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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   lynch syndrome
  

Disease ID 28
Disease lynch syndrome
Definition
An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.
Synonym
colon cancer, familial nonpolyposis
colorectal cancer hereditary nonpolyposis
familial non-polyposis colon cancer (hmsh2, hmlh1, hpms1, hpms2)
hereditary colorectal endometrial cancer syndrome
hereditary defective mismatch repair syndrome
hereditary non-polyposis colon cancer (hmsh2, hmlh1, hpms1, hpms2)
hereditary nonpolyposis colon cancer
hereditary nonpolyposis colon cancer (disorder)
hereditary nonpolyposis colon cancer (hmsh2, hmlh1, hpms1, hpms2)
hereditary nonpolyposis colorectal cancer
hnpcc - hereditary nonpolyposis colon cancer
hnpcc - hereditary nonpolyposis colorectal cancer
lynch cancer family syndrome i
lynch syndrome (disorder)
lynch syndrome i
syndrome, lynch
Orphanet
OMIM
DOID
UMLS
C1333990
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:45)
C0007113  |  rectal cancer  |  45
C0009402  |  colorectal cancer  |  44
C0476089  |  endometrial ca  |  32
C0476089  |  endometrial cancer  |  29
C1140680  |  ovarian ca  |  11
C0007102  |  colon cancer  |  9
C1140680  |  ovarian cancer  |  9
C1527249  |  colorectal cancers  |  8
C0001430  |  adenoma  |  4
C0476089  |  endometrial cancers  |  4
C1302401  |  colorectal adenoma  |  4
C0007138  |  urothelial carcinoma  |  3
C1140680  |  ovarian cancers  |  3
C0006142  |  breast cancer  |  3
C0476089  |  endometrial carcinoma  |  3
C0005684  |  bladder cancer  |  3
C0009402  |  colorectal carcinoma  |  2
C0007102  |  colon cancers  |  2
C0036503  |  sebaceous neoplasm  |  2
C0001418  |  adenocarcinoma  |  2
C0376358  |  prostate cancer  |  2
C0024623  |  gastric cancer  |  2
C0029925  |  ovarian carcinoma  |  2
C0007113  |  rectal carcinoma  |  2
C0007102  |  colonic cancer  |  2
C0740277  |  bile duct cancer  |  1
C0279672  |  adenocarcinoma of the cervix  |  1
C0021390  |  inflammatory bowel disease  |  1
C0035412  |  rhabdomyosarcoma  |  1
C0021831  |  bowel disease  |  1
C0007114  |  skin cancer  |  1
C0027859  |  acoustic neuroma  |  1
C0750952  |  biliary tract cancer  |  1
C0027859  |  acoustic neuromas  |  1
C0334480  |  pleomorphic rhabdomyosarcoma  |  1
C0279672  |  cervical adenocarcinoma  |  1
C0017636  |  glioblastoma  |  1
C0027858  |  neuromas  |  1
C0011570  |  depression  |  1
C0153619  |  ureteral cancer  |  1
C0031511  |  pheochromocytoma  |  1
C0009402  |  colorectal carcinomas  |  1
C0678222  |  breast carcinoma  |  1
C0034885  |  rectal neoplasms  |  1
C0302592  |  carcinoma of the cervix  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:14)
3845  |  KRAS  |  ORPHANET
2956  |  MSH6  |  CLINVAR;GHR;ORPHANET;UNIPROT;UniProtKB-KW
4436  |  MSH2  |  CLINVAR;GHR;ORPHANET;UNIPROT;UniProtKB-KW
5290  |  PIK3CA  |  ORPHANET;UNIPROT
7048  |  TGFBR2  |  ORPHANET;UNIPROT;UniProtKB-KW
6224  |  RPS20  |  ORPHANET
4292  |  MLH1  |  CLINVAR;GHR;ORPHANET;UNIPROT;UniProtKB-KW
5395  |  PMS2  |  CLINVAR;GHR;ORPHANET;UNIPROT;UniProtKB-KW
4072  |  EPCAM  |  CLINVAR;ORPHANET;GHR;UniProtKB-KW
657  |  BMPR1A  |  ORPHANET
27030  |  MLH3  |  ORPHANET;UNIPROT;UniProtKB-KW
5157  |  PDGFRL  |  UNIPROT
9209  |  LRRFIP2  |  ORPHANET
5378  |  PMS1  |  ORPHANET;UNIPROT;UniProtKB-KW
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:4)
4292  |  MLH1  |  CIPHER
4436  |  MSH2  |  CIPHER
6035  |  RNASE1  |  CIPHER
7157  |  TP53  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:72)
60312  |  AFAP1  |  2.341  |  DISEASES
9447  |  AIM2  |  1.843  |  DISEASES
11199  |  ANXA10  |  1.024  |  DISEASES
147495  |  APCDD1  |  1.725  |  DISEASES
8289  |  ARID1A  |  1.72  |  DISEASES
672  |  BRCA1  |  4.716  |  DISEASES
675  |  BRCA2  |  4.67  |  DISEASES
339883  |  C3orf35  |  1.805  |  DISEASES
731  |  C8A  |  1.54  |  DISEASES
838  |  CASP5  |  3.253  |  DISEASES
1029  |  CDKN2A  |  2.785  |  DISEASES
1111  |  CHEK1  |  1.243  |  DISEASES
11200  |  CHEK2  |  2.79  |  DISEASES
1291  |  COL6A1  |  1.072  |  DISEASES
27297  |  CRCP  |  1.815  |  DISEASES
1499  |  CTNNB1  |  3.187  |  DISEASES
2919  |  CXCL1  |  1.079  |  DISEASES
1874  |  E2F4  |  2.616  |  DISEASES
9852  |  EPM2AIP1  |  2.782  |  DISEASES
2159  |  F10  |  2.457  |  DISEASES
80204  |  FBXO11  |  1.04  |  DISEASES
2271  |  FH  |  1.62  |  DISEASES
2272  |  FHIT  |  1.079  |  DISEASES
11226  |  GALNT6  |  1.279  |  DISEASES
3066  |  HDAC2  |  1.266  |  DISEASES
3231  |  HOXD1  |  1.291  |  DISEASES
3482  |  IGF2R  |  1.146  |  DISEASES
92105  |  INTS4  |  1.983  |  DISEASES
9665  |  KIAA0430  |  2.759  |  DISEASES
3981  |  LIG4  |  1.156  |  DISEASES
9209  |  LRRFIP2  |  3.505  |  DISEASES
26046  |  LTN1  |  2.264  |  DISEASES
4082  |  MARCKS  |  1.053  |  DISEASES
27030  |  MLH3  |  4.89  |  DISEASES
4439  |  MSH5  |  2.618  |  DISEASES
4520  |  MTF1  |  1.162  |  DISEASES
4583  |  MUC2  |  1.11  |  DISEASES
4595  |  MUTYH  |  5.642  |  DISEASES
10004  |  NAALADL1  |  1.44  |  DISEASES
9  |  NAT1  |  1.088  |  DISEASES
4763  |  NF1  |  1.769  |  DISEASES
4521  |  NUDT1  |  2.974  |  DISEASES
51227  |  PIGP  |  1.261  |  DISEASES
5378  |  PMS1  |  6.252  |  DISEASES
87178  |  PNPT1  |  1.16  |  DISEASES
5424  |  POLD1  |  3.464  |  DISEASES
5425  |  POLD2  |  1.548  |  DISEASES
5426  |  POLE  |  3.819  |  DISEASES
54107  |  POLE3  |  2.428  |  DISEASES
56655  |  POLE4  |  2.342  |  DISEASES
5728  |  PTEN  |  2.755  |  DISEASES
5743  |  PTGS2  |  1.547  |  DISEASES
5794  |  PTPRH  |  1.778  |  DISEASES
5889  |  RAD51C  |  2.344  |  DISEASES
5892  |  RAD51D  |  2.445  |  DISEASES
9462  |  RASAL2  |  1.167  |  DISEASES
9182  |  RASSF9  |  2.29  |  DISEASES
7905  |  REEP5  |  4.677  |  DISEASES
5983  |  RFC3  |  2.332  |  DISEASES
8635  |  RNASET2  |  1.142  |  DISEASES
54894  |  RNF43  |  1.443  |  DISEASES
11231  |  SEC63  |  2.058  |  DISEASES
26054  |  SENP6  |  1.187  |  DISEASES
160728  |  SLC5A8  |  1.41  |  DISEASES
84189  |  SLITRK6  |  1.581  |  DISEASES
4089  |  SMAD4  |  2.232  |  DISEASES
6794  |  STK11  |  2.78  |  DISEASES
7048  |  TGFBR2  |  4.307  |  DISEASES
5756  |  TWF1  |  1.639  |  DISEASES
9706  |  ULK2  |  1.415  |  DISEASES
51352  |  WT1-AS  |  1.038  |  DISEASES
7516  |  XRCC2  |  2.489  |  DISEASES
Locus
Symbol | Locus(Total Locus:11)
PMS1  |  2q32.2
KRAS  |  12p12.1
PIK3CA  |  3q26.32
EPCAM  |  2p21
MSH2  |  2p21-p16.3
FAN1  |  15q13.3
MSH6  |  2p16.3
PMS2  |  7p22.1
MLH1  |  3p22.2
TGFBR2  |  3p24.1
MLH3  |  14q24.3
Disease ID 28
Disease lynch syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:52)
HP:0002239  |  Gastrointestinal hemorrhage
HP:0100576  |  Amaurosis fugax
HP:0010622  |  Neoplasm of the skeletal system
HP:0200008  |  Intestinal polyposis
HP:0012378  |  Fatigue
HP:0100571  |  Cardiac diverticulum
HP:0007256  |  Abnormal pyramidal signs
HP:0100660  |  Dyskinesia
HP:0002019  |  Constipation
HP:0002027  |  Abdominal pain
HP:0001824  |  Weight loss
HP:0002354  |  Memory impairment
HP:0002376  |  Developmental regression
HP:0001260  |  Dysarthria
HP:0002671  |  Basal cell carcinoma
HP:0003401  |  Paresthesia
HP:0001371  |  Flexion contracture
HP:0002167  |  Neurological speech impairment
HP:0002516  |  Increased intracranial pressure
HP:0002017  |  Nausea and vomiting
HP:0001522  |  Death in infancy
HP:0004374  |  Hemiplegia/hemiparesis
HP:0000739  |  Anxiety
HP:0001276  |  Hypertonia
HP:0003003  |  Colon cancer
HP:0002024  |  Malabsorption
HP:0100743  |  Neoplasm of the rectum
HP:0006725  |  Pancreatic adenocarcinoma
HP:0000708  |  Behavioral abnormality
HP:0001250  |  Seizures
HP:0100031  |  Neoplasm of the thyroid gland
HP:0012113  |  Abnormality of creatine metabolism
HP:0001288  |  Gait disturbance
HP:0001402  |  Hepatocellular carcinoma
HP:0002893  |  Pituitary adenoma
HP:0010786  |  Urinary tract neoplasm
HP:0007018  |  Attention deficit hyperactivity disorder
HP:0100843  |  Glioblastoma
HP:0002076  |  Migraine
HP:0100615  |  Ovarian neoplasm
HP:0010526  |  Dysgraphia
HP:0003006  |  Neuroblastoma
HP:0000505  |  Visual impairment
HP:0001123  |  Visual field defect
HP:0002894  |  Neoplasm of the pancreas
HP:0000738  |  Hallucinations
HP:0000716  |  Depression
HP:0000737  |  Irritability
HP:0010524  |  Agnosia
HP:0001252  |  Muscular hypotonia
HP:0100835  |  Benign neoplasm of the central nervous system
HP:0100613  |  Death in early adulthood
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:16)
HP:0003003  |  Colon cancer  |  10
HP:0002664  |  Neoplasia  |  8
HP:0030731  |  Carcinoma  |  8
HP:0012114  |  Endometrial carcinoma  |  3
HP:0003002  |  Breast carcinoma  |  3
HP:0009725  |  Bladder neoplasm  |  3
HP:0100743  |  Rectal tumor  |  2
HP:0012125  |  Prostate cancer  |  2
HP:0012126  |  Gastric cancer  |  2
HP:0000716  |  Depression  |  1
HP:0002666  |  Pheochromocytoma  |  1
HP:0009588  |  Vestibular Schwannoma  |  1
HP:0002015  |  Swallowing difficulty  |  1
HP:0100843  |  Glioblastoma  |  1
HP:0002859  |  Rhabdomyosarcoma  |  1
HP:0030153  |  Cholangiocarcinoma  |  1
Disease ID 28
Disease lynch syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:9)
C2697424  |  gastric cancer
C2697384  |  colon cancer
C1527249  |  colorectal cancer
C1140680  |  ovarian cancer
C0476089  |  endometrial carcinoma
C0346627  |  bowel cancer
C0007102  |  colonic cancers
C0007102  |  colonic cancer
C0001430  |  adenoma
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:9)
C0009402  |  colorectal cancer  |  42
C0007102  |  colon cancer  |  10
C1140680  |  ovarian cancer  |  10
C0001430  |  adenoma  |  4
C0476089  |  endometrial carcinoma  |  3
C0024623  |  gastric cancer  |  2
C0007102  |  colonic cancers  |  1
C0476089  |  endometrial cancer  |  1
C0007102  |  colonic cancer  |  1
Manually Genotype(Total Manually Genotypes:70)
Gene Mutation DOI Article Title
MLH1c.1778_1779delCA, p.Pro593ArgfsX16doi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MLH1 or PMS2Known mutation in family, Unknowndoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MLH1IVS4-1G>A, Splice sitedoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MLH1c.36_38delCGA, p.Asp12deldoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MLH1c.1489delC, p.Arg497GlyfsX11doi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MLH1c.1664T>G, p. Leu555Argdoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MLH1Exon 16-19 deldoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MLH1Exon 12-13 deldoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MLH1c.790+1G>A, Splice sitedoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MLH1c. 503dupA, p.Asn168LysfsX4doi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MLH1Exon 6-12 dupdoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH2c.942+3A>T, Skip exon 5doi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH2c.1147C>T, p.Arg383Xdoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH2Exon 1 deldoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH2Exon 1-6 deldoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH2c.943 -1G>A, Splice sitedoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH2c.1308_1309InsT, Frameshiftdoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH2c.425C>G, p.Ser142Xdoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH2c. 830T>G, p.Leu277Xdoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH2c. 182delA, Frameshiftdoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH6c.3261_3262InsC, p.Phe1088LeufsX5doi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH6c.3920_3923DUP, p.Pro1309SerfsX11doi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH6c.3261delC, p.Phe1088SerfsX2doi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH6IVS5-2A>G, Splice sitedoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH6c.3261delC, p. Phe1088SerfsX2doi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
PMS2c.736_741del6ins11, p.Pro246CysfsX3doi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
PMS2c.137G>T, p.Ser46Asndoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
PMS2Exon 1 deldoi:10.1038/gim.2015.184Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses
MSH2c.339G>A, p.Lys113Lysdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.965G>A, p.Gly322Aspdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.984C>T, p.Ala328Aladoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.1046C>G, p.Pro349Argdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.1216C>T, p.Arg406Terdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.1666T>C, p.Leu556Leudoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.1737A>G, p.Lys579Lysdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.2063T>G, p.Met688Argdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.2089T>C, p.Cys697Argdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.2442T>G, p.Leu814Leudoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.2500G>A, p.Ala834Thrdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.1077-10T>Cdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2c.1387-8G>Tdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.199G>A, p.Gly67Argdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.244A>G, p.Thr82Aladoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.655A>G, p.Ile219Valdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.794G>A, p.Arg265Hisdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.977T>C, p.Val326Aladoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.1063C>G, p.Pro355Aladoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.1217G>A, p.Ser406Asndoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.1463A>C, p.Lys488Thrdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.1852-3AA>GC, p.Lys618Aladoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.1959G>T, p.Leu653Leudoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.2146G>A, p.Val716Metdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.116+8G>Adoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.307–29C>Adoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.790+10A>Gdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.884+4A>Gdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MLH1c.1039-8T>Adoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH6c.2949G>C, p.Glu983Glndoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH6c.3246G>T, p.Pro1082Prodoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH6c.3706G>C, p.Ala1236Prodoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
PMS2c.59G>A, p.Arg20Glndoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
PMS2c.137G>T, p.Ser46Iledoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
PMS2c.1531A>G, p.Thr511Aladoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
PMS2c.1789A>T, p.Thr597Serdoi:10.1097/GIM.0b013e3182011489Integrated analysis of unclassified variants in mismatch repair genes
MSH2NM_000251.1 c.592dupGdoi:10.1038/gim.2012.112An informatics approach to analyzing the incidentalome
MSH6c.2690dupAdoi:10.1038/gim.2015.123Expanded genetic screening panel for the Ashkenazi Jewish population
MSH6c.3261delCdoi:10.1038/gim.2015.123Expanded genetic screening panel for the Ashkenazi Jewish population
MSH2p.A636P43doi:10.1038/gim.2015.123Expanded genetic screening panel for the Ashkenazi Jewish population
MSH6c.3984_3987dupGTCA44doi:10.1038/gim.2015.123Expanded genetic screening panel for the Ashkenazi Jewish population
MSH6c.3959_3962delCAAGdoi:10.1038/gim.2015.123Expanded genetic screening panel for the Ashkenazi Jewish population
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1180)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1042522172242356041RNASELumls:C1333990BeFreeThe additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.0.0002714422007TP53177676154GT,C
rs1042522172242357157TP53umls:C1333990BeFreeWe have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients.0.0053528932007TP53177676154GT,C
rs1042522163531347248TSC1umls:C1333990BeFreeRecently a polymorphism at codon 72 (R72P) in the tumour suppressor gene TP53 has been implicated in the age of disease onset in HNPCC.0.0010857672006TP53177676154GT,C
rs1042522163531347157TP53umls:C1333990BeFreeAge of diagnosis of CRC in HNPCC patients is therefore more complex than that predicted by the R72P TP53 polymorphism alone, suggesting an inter-relationship with other genetic and/or environmental factors.0.0053528932006TP53177676154GT,C
rs1042821246228852956MSH6umls:C1333990BeFreeAlthough the MSH6 G39E polymorphism is considered to be a biomarker of hereditary nonpolyposis colorectal cancer (HNPCC), many studies have also found that it may be associated with increased risks of lung, breast, and pancreatic cancers, with inconsistent estimated risks.0.2771115922014MSH6247783349GC,A
rs1048943187685091543CYP1A1umls:C1333990BeFreeOur results suggest that the I462V and Msp1 polymorphisms in CYP1A1 may be an additional susceptibility factor for disease expression in Lynch syndrome because they modify the age of colorectal cancer onset by up to 4 years.0.0008143262008CYP1A11574720644TG,C,A
rs111052004NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993549TA,C,G
rs113488022241967863845KRASumls:C1333990BeFreeHER2 overexpression (3+) was observed in 2 out of 62 patients, overexpression of p53 in 26 out of 62, abnormal expression of β-catenin in 12 out of 61, KRAS mutation in 21 out of 49, BRAF V600E mutation in 1 out of 40 patients, MMR deficiency (dMMR) in 14 out of 61 and was consistent with Lynch syndrome in 9 out of 14 patients.0.1224429772013BRAF7140753336AT,G,C
rs113488022153426964436MSH2umls:C1333990BeFreeThe BRAF-V600E hotspot mutation was found in 40% (82/206) of the sporadic MSI-H tumours analysed but in none of the 111 tested HNPCC tumours or in the 45 cases showing abnormal MSH2 immunostaining.0.331835162004BRAF7140753336AT,G,C
rs113488022241967862064ERBB2umls:C1333990BeFreeHER2 overexpression (3+) was observed in 2 out of 62 patients, overexpression of p53 in 26 out of 62, abnormal expression of β-catenin in 12 out of 61, KRAS mutation in 21 out of 49, BRAF V600E mutation in 1 out of 40 patients, MMR deficiency (dMMR) in 14 out of 61 and was consistent with Lynch syndrome in 9 out of 14 patients.0.0002714422013BRAF7140753336AT,G,C
rs11348802217942460673BRAFumls:C1333990BeFreeThe BRAF V600E mutation is associated with sporadic MSI-H colorectal cancers (CRCs) harboring hMLH1 methylation but not Lynch syndrome-related CRCs.0.0100433492008BRAF7140753336AT,G,C
rs11348802217566669673BRAFumls:C1333990BeFreeFrequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for Hereditary Nonpolyposis Colorectal Cancer.0.0100433492007BRAF7140753336AT,G,C
rs11348802224034859673BRAFumls:C1333990BeFreeMSI-H colorectal carcinomas were divided into sporadic (112/1292, 8.7%) and LS/probable LS-associated (38/1292, 2.9%) groups based on BRAF V600E mutation, MLH1 promoter hypermethylation, cancer history, and germline mismatch repair gene mutation.0.0100433492013BRAF7140753336AT,G,C
rs113488022170654215894RAF1umls:C1333990BeFreeMutation V600E of BRAF, a kinase-encoding gene from the RAS/RAF/MAPK pathway, in colorectal carcinoma (CRC) suggests a sporadic origin of the disease, providing an exclusion criterion for hereditary nonpolyposis colorectal cancer.0.0002714422006BRAF7140753336AT,G,C
rs1134880221706542122882ZHX2umls:C1333990BeFreeMutation V600E of BRAF, a kinase-encoding gene from the RAS/RAF/MAPK pathway, in colorectal carcinoma (CRC) suggests a sporadic origin of the disease, providing an exclusion criterion for hereditary nonpolyposis colorectal cancer.0.0002714422006BRAF7140753336AT,G,C
rs11348802223897252673BRAFumls:C1333990BeFreeBRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome.0.0100433492013BRAF7140753336AT,G,C
rs11348802223553055673BRAFumls:C1333990BeFreeBRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer.0.0100433492013BRAF7140753336AT,G,C
rs11348802219213871673BRAFumls:C1333990BeFreeBRAF V600E is the predominantly occurring mutation of the cytoplasmic kinase BRAF, and, in colorectal cancer, its determination provides a diagnostic exclusion criterion for hereditary nonpolyposis colorectal cancer.0.0100433492009BRAF7140753336AT,G,C
rs113488022256027935395PMS2umls:C1333990BeFreeWe defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.0.2622582342015BRAF7140753336AT,G,C
rs113488022256027934292MLH1umls:C1333990BeFreeWe defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.0.3294681282015BRAF7140753336AT,G,C
rs11348802225602793673BRAFumls:C1333990BeFreeWe defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.0.0100433492015BRAF7140753336AT,G,C
rs11348802215342696673BRAFumls:C1333990BeFreeThe BRAF-V600E hotspot mutation was found in 40% (82/206) of the sporadic MSI-H tumours analysed but in none of the 111 tested HNPCC tumours or in the 45 cases showing abnormal MSH2 immunostaining.0.0100433492004BRAF7140753336AT,G,C
rs11348802218556776673BRAFumls:C1333990BeFreeIn addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes.0.0100433492008BRAF7140753336AT,G,C
rs113488022240348594292MLH1umls:C1333990BeFreeMSI-H colorectal carcinomas were divided into sporadic (112/1292, 8.7%) and LS/probable LS-associated (38/1292, 2.9%) groups based on BRAF V600E mutation, MLH1 promoter hypermethylation, cancer history, and germline mismatch repair gene mutation.0.3294681282013BRAF7140753336AT,G,C
rs113488022179424604292MLH1umls:C1333990BeFreeThe BRAF V600E mutation is associated with sporadic MSI-H colorectal cancers (CRCs) harboring hMLH1 methylation but not Lynch syndrome-related CRCs.0.3294681282008BRAF7140753336AT,G,C
rs11348802217119056673BRAFumls:C1333990BeFreeTo evaluate the role of oncogenic BRAF mutations in non-hereditary nonpolyposis colorectal cancer/non-familial adenomatous polyposis familial colorectal cancer, we did a mutation screening of the most common BRAF mutation, the V600E mutation, in 194 colorectal tumors from patients with a positive family history of the disease.0.0100433492006BRAF7140753336AT,G,C
rs113488022241967867157TP53umls:C1333990BeFreeHER2 overexpression (3+) was observed in 2 out of 62 patients, overexpression of p53 in 26 out of 62, abnormal expression of β-catenin in 12 out of 61, KRAS mutation in 21 out of 49, BRAF V600E mutation in 1 out of 40 patients, MMR deficiency (dMMR) in 14 out of 61 and was consistent with Lynch syndrome in 9 out of 14 patients.0.0053528932013BRAF7140753336AT,G,C
rs11348802217545526673BRAFumls:C1333990BeFreeThe detection of a BRAF V600E mutation further supports the exclusion of HNPCC.0.0100433492007BRAF7140753336AT,G,C
rs11348802224196786673BRAFumls:C1333990BeFreeHER2 overexpression (3+) was observed in 2 out of 62 patients, overexpression of p53 in 26 out of 62, abnormal expression of β-catenin in 12 out of 61, KRAS mutation in 21 out of 49, BRAF V600E mutation in 1 out of 40 patients, MMR deficiency (dMMR) in 14 out of 61 and was consistent with Lynch syndrome in 9 out of 14 patients.0.0100433492013BRAF7140753336AT,G,C
rs11348802217312306673BRAFumls:C1333990BeFreeTumors were also screened for BRAF V600E mutations; patients with the mutation were considered as non-HNPCC.0.0100433492007BRAF7140753336AT,G,C
rs11348802217065421673BRAFumls:C1333990BeFreeMutation V600E of BRAF, a kinase-encoding gene from the RAS/RAF/MAPK pathway, in colorectal carcinoma (CRC) suggests a sporadic origin of the disease, providing an exclusion criterion for hereditary nonpolyposis colorectal cancer.0.0100433492006BRAF7140753336AT,G,C
rs11540654163531347248TSC1umls:C1333990BeFreeRecently a polymorphism at codon 72 (R72P) in the tumour suppressor gene TP53 has been implicated in the age of disease onset in HNPCC.0.0010857672006TP53177676040CT,G,A
rs11540654163531347157TP53umls:C1333990BeFreeAge of diagnosis of CRC in HNPCC patients is therefore more complex than that predicted by the R72P TP53 polymorphism alone, suggesting an inter-relationship with other genetic and/or environmental factors.0.0053528932006TP53177676040CT,G,A
rs11540654172242357157TP53umls:C1333990BeFreeWe have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients.0.0053528932007TP53177676040CT,G,A
rs11540654172242356041RNASELumls:C1333990BeFreeThe additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.0.0002714422007TP53177676040CT,G,A
rs11541859NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337001012GC,T
rs121434629NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS276005918CT,A
rs121912965NA4292MLH1umls:C1333990CLINVARNA0.329468128NANANANANANA
rs12476364NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416295GA,C
rs137937003191336954292MLH1umls:C1333990BeFreeWe describe a somatic mosaicism in a Lynch syndrome patient with a MLH1 gene mutation (c.1050delA).0.3294681282009MLH1337025648AG
rs143277125NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275992012GA,T
rs146816935NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798875CT
rs148317871NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050595GA
rs1799977230605574292MLH1umls:C1333990BeFreeEvaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome.0.3294681282012MLH1337012077AC,G
rs1799977169827454292MLH1umls:C1333990BeFreeThe approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R).0.3294681282006MLH1337012077AC,G
rs1799977230605574436MSH2umls:C1333990BeFreeTo evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features.0.331835162012MLH1337012077AC,G
rs1800937NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798625CA,G,T
rs180115515929773324APCumls:C1333990BeFreeIn addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined.0.0076003722005APC5112839514TA
rs1801155159297734436MSH2umls:C1333990BeFreeIn addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined.0.331835162005APC5112839514TA
rs193922343NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806256AGAA-
rs193922370NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008813GA,C,T
rs193922372NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429673CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT-
rs193922375NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414336-G
rs193922376NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414421AT
rs200640585NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275992018GA
rs201451115NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275986826TA
rs2020912NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800616TC,G
rs2075786229480244360MRC1umls:C1333990BeFreeIn conclusion, MMR gene mutation carriers with hTERT rs2075786 are at high risk to develop a LS-related tumor at an early age.0.082013TERT51266195AG
rs267607689NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410373GA,T
rs267607690NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478298-A,AAT
rs267607691NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475046-CT
rs267607693NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429762-A
rs267607694NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247470970-A
rs267607696NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445611-GG
rs267607699NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040291-AAGT
rs267607702NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993566GTTATTCGGCGGCTGGA-
rs267607706NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993661CG
rs267607709NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993664GA
rs267607710NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993668GA,C
rs267607712NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996617AG,T
rs267607713NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996623GC
rs267607713250606794292MLH1umls:C1333990BeFreeDetailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.0.3294681282014MLH1336996623GC
rs267607715NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996697C-
rs267607716NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000953AC,G
rs267607717NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000954GA
rs267607718NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996710GA,T
rs267607719NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996710GT-
rs267607720NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000952CG
rs267607722NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996711TC
rs267607723NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000957AGAA-
rs267607728NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337001008C-
rs267607729NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000991-A
rs267607732NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004399AC
rs267607734NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337001054GA
rs267607735NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337001058GA
rs267607736NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004400GC
rs267607738NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337001055-T
rs267607739NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004440-A
rs267607742NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004476TA,C
rs267607743NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337006989AG
rs267607745NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004475GA
rs267607746NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337006992GCAAGTTACTCAGATGGAAAAT
rs267607750NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007064GT
rs267607751NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007065TC
rs267607753NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008812AG
rs267607754NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008848G-
rs267607755NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008857TA
rs267607756NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008862AA-
rs267607758NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008828TT-
rs267607759NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011818AC,G
rs267607760NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008908AG
rs267607765NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008906GA
rs267607767NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012009AG
rs267607768NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011867GA,C
rs267607772NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011863GT
rs267607773NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011863G-
rs267607774NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012095AGTC-
rs267607777NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017603AG
rs267607778NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012100GA,T
rs267607779NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012100G-
rs267607780NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012102AG,C
rs267607783NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014429TA-
rs267607784NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014431GT,C
rs267607787NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014481AATG-
rs267607788NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017501TG
rs267607789NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014545GT,C,A
rs267607790NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014546TA,C
rs267607791NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014546-T
rs267607794NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017504AG
rs267607795NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017505GA,C,T
rs267607798NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014545G-
rs267607799NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017506ATCG-
rs267607801NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017523ACTT-
rs267607805NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020308AG
rs267607806NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017601TC
rs267607809NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020313A-
rs267607815NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025635AT,G
rs267607816NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020464GC
rs267607819NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025636GC,A
rs267607821NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025960-G
rs267607822NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025644-T
rs267607825NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337026008GC,A
rs267607831NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028934TG
rs267607832NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028933GT
rs267607836NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040184AC,G,T
rs267607837NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040185GA,C,T
rs267607842NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040241GA
rs267607845NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042267GA,T
rs267607849NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042290CTCA-
rs267607850NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042336GA
rs267607851NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042334AT
rs267607852NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047517AG,T
rs267607853NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042332GT,C,A
rs267607854NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047518GA
rs267607856NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042333TG
rs267607864NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047610CA,T
rs267607867NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047684GA,T
rs267607868NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047684G-
rs267607869NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047685TC
rs267607871NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048515AG
rs267607873NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048606TGAGGC
rs267607877NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048608A-
rs267607879NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048610GA,C,T
rs267607881NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048888AATTTCTTTGGACCA-
rs267607883NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048902AG
rs267607884NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048903GT,A
rs267607888NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337049018GT,C,A
rs267607889NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050484AG,T
rs267607892NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050651-T,TGTT
rs267607894NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050628TA,C
rs267607895NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050647GC
rs267607896NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050606C-
rs267607897NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050605GCAGCTTGCTA-
rs267607898NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050561CACA-
rs267607903NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050580-AACA
rs267607906NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050576AT
rs267607907NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050634AA-
rs267607911NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403192AC,G,T
rs267607914NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408400GA
rs267607915NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403211A-
rs267607917NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408399AG
rs267607920NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408452TT-
rs267607921NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408444TG-
rs267607924NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408556GT
rs267607925NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410093GA,T
rs267607928NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410278T-
rs267607929NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412411TAGATAATTCAA-
rs267607930NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412411TC,G
rs267607931NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412527GAAT-
rs267607933NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414267AC
rs267607934NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412561GA
rs267607939NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416398CG
rs267607940NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416430GA,T
rs267607943NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429740AC,G,T
rs267607944NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429741GC,T
rs267607948NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445547GA,C
rs267607949NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445546AC,G
rs267607950NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429942GA,C,T
rs267607953NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429943TA,C
rs267607954NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445625GA,T
rs267607955NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445616AAGT-
rs267607956NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463030GT
rs267607957NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445658GA,C,T
rs267607961NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463089GAGAA-
rs267607962NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466656AG
rs267607969NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466809GA,T
rs267607970NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247470964GA
rs267607971NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247470963AG
rs267607974NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471020G-
rs267607976NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471064TA,C
rs267607977NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475036-A
rs267607979NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478271GT
rs267607983NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475220CA
rs267607984NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475118C-
rs267607985NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475073AG
rs267607986NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475271GA,C,T
rs267607987NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475272TC
rs267607988NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476366GC
rs267607990NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476362TA
rs267607991NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476365AG
rs267607994NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476448CT
rs267607995NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476408GA,T
rs267607996NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476382GA,C
rs267608000NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476382GT-
rs267608001NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478270AC,G,T
rs267608002NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476572GA,C
rs267608009NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478322C-
rs267608010NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478520GA
rs267608017NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480876GC,T
rs267608019NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480872GA,T
rs267608020NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247482778GT
rs267608024NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247482884GT
rs267608035NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247795893GA
rs267608036NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247791125TA
rs267608037NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247795958AG-
rs267608042NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247801102TT-
rs267608046NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799460GT
rs267608048NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798738CG
rs267608049NA2956MSH6umls:C1333990CLINVARNA0.277111592NANANANANANA
rs267608050NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799767T-
rs267608055NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799282TA
rs267608056NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799068C-
rs267608057NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800028CT-
rs267608058NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800133TCAG-
rs267608059NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247801050GT
rs267608062NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798828-GGG,T
rs267608063NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800751-A
rs267608064NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799615AAAA-
rs267608065NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800331GT-
rs267608066NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798713CT
rs267608068NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800044TA
rs267608072NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798745TG-
rs267608076NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799620AG-
rs267608077NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799118AGAGA-
rs267608078NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803508C-
rs267608082NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799884TG-
rs267608084NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803602GT
rs267608085NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803442CTAT-
rs267608086NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803614GT
rs267608087NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803508-C,CC
rs267608088NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803571-T
rs267608090NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803468T-
rs267608091NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803510-T
rs267608092NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803558TT-
rs267608093NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803559T-
rs267608094NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806641CT
rs267608095NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803520-T
rs267608096NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803686GA
rs267608098NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247804908AG
rs267608099NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247804987AGTG-
rs267608101NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247804993-GTTT
rs267608106NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247805707GGTA-
rs267608111NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806202AC
rs267608112NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806198TAACAG-
rs267608114NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806356AT-
rs267608118NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806454-A
rs267608120NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806609CAAG-
rs267608121NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806637-GTCA
rs267608122NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806651GA
rs267608124NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806634-ATCA
rs267608126NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806591-TTCA
rs267608127NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806585-AAGT
rs267608128NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806500-ATTA
rs267608130NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806537AAAGCTA-
rs267608131NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806653TC
rs267608140240403392956MSH6umls:C1333990BeFreeWe recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q, and found all three to behave like wild type MSH6.0.2771115922013MSH6;FBXO11247806838TA,C
rs267608147NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275999107CA
rs267608148NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275999219-A
rs267608149NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275997326-A
rs267608150NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275997388AGGGGGNNNNNNNNNNN,CTTCACACACA
rs267608153NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275995534CT,A
rs267608154NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275995573CTGT-
rs267608156NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275989867-A
rs267608158NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275989798AT
rs267608160NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275977669GAAG-
rs267608161NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275982885CT
rs267608169NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275987027TA
rs267608170NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275982992CT
rs267608172NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275982823CT,A
rs267608173NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275978625TTCT-
rs281864936NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028787GAGA-
rs281864937NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028789GA-
rs281864938NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048566C-
rs281864940NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050537-ATGTGTTCCACA,CA
rs281864941NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471009-GA,T
rs281864942NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403378-G,GG
rs281864943NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403212-G,GCGGTGCAGCCGAAGGAG
rs281864944NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412472AA-
rs281864945NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412473A-
rs28929483NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475130CT
rs28929484NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475180CT
rs28930073NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007004GC
rs3211299NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247791097GT
rs34986638NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478483GT
rs35001569NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047639AG,T
rs35502531224262354292MLH1umls:C1333990BeFreeThe germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.0.3294681282012NANANANANA
rs367543283NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047545-C
rs369521379NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007063GA
rs3864484891519344527030MLH3umls:C1333990BeFreeRecently we identified a new variant, S845G, in the MLH3 gene in 7 out of 327 patients suspected of hereditary nonpolyposis colorectal cancer but not fulfilling the Amsterdam criteria and in 1 out of 188 control subjects.0.1221715352004NANANANANA
rs386596027172242356041RNASELumls:C1333990BeFreeThe additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.0.0002714422007NANANANANA
rs386596027172242357157TP53umls:C1333990BeFreeWe have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients.0.0053528932007NANANANANA
rs397507444178556934524MTHFRumls:C1333990BeFreeInfluence of methylenetetrahydrofolate reductase gene polymorphisms C677T and A1298C on age-associated risk for colorectal cancer in a caucasian lynch syndrome population.0.0002714422007MTHFR111794407TG
rs398123232NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247804987AG-
rs41295282117934425395PMS2umls:C1333990BeFreeIn contrast, the third amino-terminal mutation S93G did not affect the heterodimerization, and the MLH1(S93G)/PMS2 variant was functional in the in vitro MMR assay, given thus the nature of the HNPCC family in question.0.2622582342002MLH1337001024AG
rs486907172242356041RNASELumls:C1333990BeFreeThe additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.0.0002714422007RNASEL1182585422CT
rs486907172242357157TP53umls:C1333990BeFreeWe have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients.0.0053528932007RNASEL1182585422CT
rs551060742NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247482929CT
rs573125799NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275997364GA,T
rs587776529NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408479-AAGATCTTCTTCTGGTTCGTCA
rs587776530NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463101ATGA-
rs587776705NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803633GTG-
rs587776715NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275987544C-
rs587778617NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275987504GA
rs587778881NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020451-G
rs587778882NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993651-AA
rs587778883NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025648A-
rs587778884NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025669GGAGATGG-
rs587778885NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025670G-
rs587778887NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025730GTCA
rs587778888NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993660AG
rs587778889NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025743-A
rs587778893NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025761-NNNN
rs587778894NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025769CT
rs587778896NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996621T-
rs587778898NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025808-C
rs587778899NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025821-GTCAGCC
rs587778900NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025816T-
rs587778903NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025923CCAAAAATCAGAGCTTGGAGGGNNNNN
rs587778905NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025945GGATACAACAAAGGGGACTTCTAAA
rs587778906NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025946-G
rs587778907NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025960G-
rs587778908NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025975A-
rs587778909NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025978GA-
rs587778911NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337026009TG
rs587778912NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028789GACATCGGGAAGA-
rs587778913NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996644CT
rs587778914NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996645AC
rs587778915NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028823A-
rs587778918NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028836AT
rs587778919NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028838GGAAA-
rs587778921NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028894T-
rs587778922NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996655-T
rs587778923NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996657AAGA-
rs587778924NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028926-T
rs587778925NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028926C-
rs587778926NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028931-T
rs587778927NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996658A-
rs587778928NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040199GT-
rs587778929NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040201TA
rs587778930NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040215TTC-
rs587778931NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040219TG-
rs587778932NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996663GAGG-
rs587778933NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040240GA
rs587778934NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040270-TTATA
rs587778937NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040291TC
rs587778938NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040296TAAATCAATTT
rs587778939NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042268T-
rs587778942NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047532T-
rs587778943NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047535TT-
rs587778944NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996677-A
rs587778946NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047587AGATGGTCCCAAAGAAGGA-
rs587778947NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047608-T
rs587778948NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047619-ACAT
rs587778949NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047640ATTCTT
rs587778950NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047653T-
rs587778953NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047667CTTT-
rs587778954NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047680T-
rs587778955NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996691CA,T
rs587778956NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048522G-
rs587778957NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048524-A
rs587778958NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048546-GATTACCCCTTCTG
rs587778959NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048562-ATTACCCCTTCTGATTGACAACTATGTGC
rs587778960NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048536-T
rs587778961NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048540-T
rs587778962NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048550G-
rs587778964NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048604AC
rs587778966NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996700-C
rs587778968NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996703G-
rs587778971NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048949GT
rs587778973NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000954GA-
rs587778975NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337049007CG
rs587778978NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050485GT
rs587778979NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050487GTGAAGTGCC-
rs587778980NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050493TGCCTGG-
rs587778981NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050529TG-
rs587778982NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050577-GAACACATTGTCTATAAAGCCTTGCGCTCACACATTCTGCCTCCTAA
rs587778984NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050539-T
rs587778987NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050563CA-
rs587778989NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050600-A
rs587778990NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050603CTGCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
rs587778992NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050606CT
rs587778996NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993569-A
rs587778997NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000979G-
rs587778998NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000991AG
rs587779001NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993521CA,T
rs587779006NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004466TG-
rs587779008NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993584GA,T
rs587779009NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337006998T-
rs587779012NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337006999A-
rs587779013NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993587-GA
rs587779014NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007014TGAA-
rs587779015NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007030A-
rs587779018NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008857T-
rs587779019NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008884-GA
rs587779021NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008905GA,C
rs587779022NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011819GA
rs587779023NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011848TTCTCAGTTAAAAAAGT-
rs587779024NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011864TA
rs587779027NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012010GT
rs587779029NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993552CA,T
rs587779031NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012094T-
rs587779032NA4292MLH1umls:C1333990CLINVARNA0.329468128NANANANANANA
rs587779033NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012099-T
rs587779035NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014430AG
rs587779036NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014423TTCTAATAGAGAACTGATAGAAATT-
rs587779037NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014485GTTA-
rs587779040NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993625G-
rs587779041NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017502TTAGATCGT-
rs587779042NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017499TA
rs587779043NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017526TCCTT-
rs587779045NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993631A-
rs587779046NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017575A-
rs587779047NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017581AC-
rs587779048NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017582-AC
rs587779050NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017599GGTA-
rs587779052NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020326C-
rs587779055NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020353A-
rs587779058NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020407CT
rs587779063NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416353AT
rs587779064NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416360C-
rs587779065NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416366GA
rs587779066NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416371-A
rs587779067NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416399CG,T
rs587779068NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416412G-
rs587779070NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416428AT
rs587779073NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429764G-
rs587779075NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429830CT
rs587779076NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429886CT-
rs587779079NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429914GTTAT-
rs587779083NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445589CT-
rs587779084NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445590TC
rs587779087NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463022TA
rs587779088NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463034G-
rs587779089NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463043GT
rs587779091NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463078-TC
rs587779092NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463088AT
rs587779093NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463131TA
rs587779094NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463144-C
rs587779097NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466675CT
rs587779100NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247470970T-
rs587779102NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403357GA,T
rs587779103NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247470990-T
rs587779104NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247470996AT
rs587779105NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471005-A
rs587779106NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471008-T
rs587779108NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471063GA
rs587779110NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475024GA
rs587779111NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475052-A
rs587779112NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475092T-
rs587779114NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475162-A
rs587779117NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475189GT-
rs587779118NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475235-ACTT
rs587779119NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475245TA-
rs587779120NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475247AACA-
rs587779121NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475249CA-
rs587779122NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475251GA-
rs587779123NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475272TAAAAAACCTG-
rs587779124NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475272T-
rs587779129NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476396AT-
rs587779131NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476407TG-
rs587779133NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476421TC
rs587779135NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476435GGGTGTTT-
rs587779136NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476457CG
rs587779138NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247407923TG
rs587779139NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476513CT
rs587779140NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476528-T
rs587779143NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478352GA
rs587779144NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478479-C
rs587779145NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408433AT
rs587779146NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480735-CATGTTGCAGAGCT
rs587779147NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480758A-
rs587779148NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480762AG-
rs587779149NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480782C-
rs587779151NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480830ATCAT-
rs587779152NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480859TA
rs587779157NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408490GAAGTT-
rs587779159NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408541-T
rs587779163NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410220TG
rs587779164NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410255TG-
rs587779165NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410298CTC-
rs587779169NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412412AG
rs587779170NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412420CT
rs587779172NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412443AGAAATAAT
rs587779173NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412453AT
rs587779174NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412459G-
rs587779175NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403262-A
rs587779176NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412493-A
rs587779177NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403264-C
rs587779179NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412529A-
rs587779181NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412536-CT
rs587779182NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403114TG-
rs587779183NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412560GC
rs587779185NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414287TCTG-
rs587779188NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403273G-
rs587779189NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414339A-
rs587779190NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414344GT
rs587779191NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414349GACT-
rs587779192NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414364C-
rs587779193NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414419GT
rs587779194NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414420T-
rs587779195NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414420TC,G
rs587779197NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414418GA
rs587779198NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416294AG
rs587779199NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416323-NNNN
rs587779203NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799084T-
rs587779206NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799122ATGAG-
rs587779208NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799176TA
rs587779209NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799259T-
rs587779212NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799466CT
rs587779215NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799555CG
rs587779216NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799573T-
rs587779217NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799579-T
rs587779218NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799597TCG
rs587779219NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799611AA-
rs587779221NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799802-A
rs587779226NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800034-CT
rs587779227NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800040GA
rs587779231NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800100TC
rs587779232NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800110TA
rs587779234NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800313GA
rs587779237NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800362TG-
rs587779241NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800518-T
rs587779243NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800552GATT-
rs587779244NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800655TCTC
rs587779245NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800697TA
rs587779246NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800747CT
rs587779247NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800748G-
rs587779250NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800928C-
rs587779251NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800959A-
rs587779252NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247801003GA
rs587779255NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247801156GT
rs587779256NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803419GA-
rs587779258NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803506-T
rs587779259NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803515GAGCTTA-
rs587779260NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803588-C
rs587779263NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247804909GT
rs587779267NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247804958GT
rs587779274NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247805670TGCA-
rs587779279NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806203GA
rs587779287NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806282GTACATTATTTTC-
rs587779288NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806289-ATTA
rs587779289NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806314-A
rs587779291NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806355TATGGTATGTGCAAATTGTTTTTTTCCACA-
rs587779295NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806568-T
rs587779296NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806577-ATCTCCCA
rs587779297NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806603-A,NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
rs587779299NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806619TGAGAAGATGA-
rs587779301NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806650-ATTTC
rs587779315NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798635AT
rs587779318NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798677CT
rs587779319NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798693G-
rs587779320NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798721-T
rs587779324NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS276004060TC
rs587779326NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275989831ATTAAA
rs587779327NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275987595-NNNNNNNNNNNNNNNNNNNN
rs587779329NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS276005890AG
rs587779330NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275987034-T
rs587779333NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS2;AIMP276009019TC,A
rs587779335NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275978684GA-
rs587779336NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS276004001-CA
rs587779337NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275978622CT
rs587779340NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS276003794TC,A
rs587779343NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275999116GC,A
rs587779344NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275997349G-
rs587779347NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275989957TC
rs587780538NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799350GA
rs587780670NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799773-A
rs587780683NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050572T-
rs587780724NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275987389GT
rs587781554NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020396-A
rs587782712NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247801020AAGAA-
rs63749795NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028833CT
rs63749802NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476552GT
rs63749804NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993599C-
rs63749811NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476474G-
rs63749813NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993649GA-
rs63749814NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429773G-
rs63749816NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993578C-
rs63749818NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007002CA
rs63749820NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007046CT
rs63749821NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803446-TA
rs63749827NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993623CT
rs63749828NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993623C-
rs63749829NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000958GC,T
rs63749830NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480812GA,T
rs63749831NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475051AAT-
rs63749832NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412514A-
rs63749837NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020448G-
rs63749838NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993620AT
rs63749839NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993620A-
rs63749843NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803449CG,T
rs63749845NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025932A-
rs63749848NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408418AG-
rs63749849NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429812CT
rs63749850NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429862-CA
rs63749852NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416311-A
rs63749854NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478336GT
rs63749859NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000976TC
rs63749863NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047545C-
rs63749867NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048954CA,T
rs63749868NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047559ATAG-
rs63749872NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408467TT-
rs63749873NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247795903CG
rs63749874NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799617AAGA-
rs63749876NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028837A-
rs63749878NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476432-A
rs63749897NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412455A-
rs63749900NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048596GA,C,T
rs63749902NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414271T-
rs63749906NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993651TG
rs63749909NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028891TC
rs63749913NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478351T-
rs63749914NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414381TA
rs63749915NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414377AT
rs63749916NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028894-T
rs63749917NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478507CT
rs63749920NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445616AT
rs63749923NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028902CT
rs63749926NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020379C-
rs63749929NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475251G-
rs63749930NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466699CA-
rs63749932NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476399CG,T
rs63749938NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800967A-
rs63749939191421834292MLH1umls:C1333990BeFreeThe G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.0.3294681282009MLH1336996702GA
rs63749939NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996702GA
rs63749942NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806281CGT-
rs63749944NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008873A-
rs63749945NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416326-T
rs63749947NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463091GT
rs63749950NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017557CT
rs63749956NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996652-T
rs63749959NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008863-A
rs63749963NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463141A-
rs63749965NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025748G-
rs63749975NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480766TG-
rs63749979NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047556T-
rs63749980NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798725CA,G,T
rs63749981NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025941A-
rs63749983NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478449T-
rs63749984NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410340GC,T
rs63749986NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047642G-
rs63749990NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000985TG
rs63749991NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414318CA,G
rs63749993227390244360MRC1umls:C1333990BeFreeThe hMSH2(M688R) mismatch repair (MMR) gene mutation has been found in five large families from Tenerife, Spain, suggesting it is a Lynch syndrome or hereditary non-polyposis colorectal cancer (LS/HNPCC) founder mutation.0.082012MSH2247476424TG
rs63749993NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476424TG
rs63749993212254644436MSH2umls:C1333990BeFreeHere we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS.0.331835162011MSH2247476424TG
rs63749993227390244436MSH2umls:C1333990BeFreeThe hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.0.331835162012MSH2247476424TG
rs63749995NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048998CA,G
rs63749999NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247801086CT
rs63750005NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000992CT
rs63750006NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429920CA,T
rs63750008NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480744T-
rs63750016NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047553CA
rs63750019NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798701CA,T
rs63750020NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025975-A
rs63750028NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996658-A
rs63750034NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017574AA-
rs63750035NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047570AG-
rs63750036NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040247GG-
rs63750037NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410274CT
rs63750039NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429804T-
rs63750042NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408415CG,T
rs63750046NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414398-AGCAGTCA
rs63750047NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475066CT
rs63750049NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275989923T-
rs63750052NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000978TG-
rs63750057NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993585-CCCA
rs63750059NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042276TG
rs63750060NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478469CA-
rs63750061NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048920AAAAG-
rs63750068NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463088A-
rs63750069NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410245T-
rs63750071NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025952A-
rs63750075NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800045GT-
rs63750081NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993584G-
rs63750084NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247482791A-
rs63750086NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429891AG-
rs63750087NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403357G-
rs63750091NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414315-T
rs63750094NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466723A-
rs63750097NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414338CT
rs63750098NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996648TA
rs63750103NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475025G-
rs63750104NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466741-G
rs63750106NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275987458-T
rs63750107NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412503-G
rs63750111NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800914CG
rs63750113NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475044GACA-
rs63750114NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337049015CA,T
rs63750115NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048591T-
rs63750131NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048595CG-
rs63750138181768514292MLH1umls:C1333990BeFreeComprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.0.3294681282008MSH6247800297CA,T
rs63750138NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800297CA,T
rs63750138181768512956MSH6umls:C1333990BeFreeComprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.0.2771115922008MSH6247800297CA,T
rs63750138181768514436MSH2umls:C1333990BeFreeComprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.0.331835162008MSH6247800297CA,T
rs63750139NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806488CT
rs63750140NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800798CT
rs63750144NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017599GA,C
rs63750145NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247482791-A
rs63750149NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478396-A
rs63750150NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047618AT-
rs63750152NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047664T-
rs63750160NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403378G-
rs63750161NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463091GA-
rs63750192NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040251CT
rs63750193NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040276TC
rs63750194NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247804984-A,TA
rs63750196NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803429T-
rs63750199NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403395G-
rs63750200NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475042CT
rs63750203NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475150CT
rs63750206169827454292MLH1umls:C1333990BeFreeThe approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R).0.3294681282006MLH1336996701GA,T
rs63750206NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996701GA,T
rs63750210NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410095C-
rs63750211NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008904AG
rs63750211227731734292MLH1umls:C1333990BeFreeClinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.0.3294681282012MLH1337008904AG
rs63750212NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017571-T
rs63750214NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410215TA,G
rs63750216NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993633CG
rs63750217NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048955GA
rs63750224NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466713CG
rs63750232NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476435GC
rs63750233NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478408C-
rs63750234NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476381GA,C
rs63750245NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416383CA,T
rs63750246NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275995574TG-
rs63750250NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275986933-T
rs63750253240403392956MSH6umls:C1333990BeFreeWe recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q, and found all three to behave like wild type MSH6.0.2771115922013MSH6247803531GA
rs63750258NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800966GT
rs63750261NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275999110GA
rs63750262NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806474-AATG
rs63750267NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429794CG,T
rs63750276NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414335GT
rs63750280164264474436MSH2umls:C1333990BeFreeWe identified in the HNPCC family a novel germline missense (c.1864C>A) mutation in exon 12 of hMSH2 gene, leading to a proline 622 to threonine (p.Pro622Thr) amino acid substitution.0.331835162006MSH2247475129CA,G
rs63750281NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996705TA
rs63750282NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048914-A
rs63750291NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480818CT
rs63750293NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025859A-
rs63750296NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247804990-A
rs63750300NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040267TA
rs63750302NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429848CT
rs63750303NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014485GA,T
rs63750305NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025727-TA
rs63750309NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047536T-
rs63750312NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475122TG
rs63750316NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025874CT
rs63750317NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028916-T
rs63750318NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408490GT
rs63750319NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020360-A
rs63750329NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412531AGTGTT
rs63750334NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403336GA-
rs63750337NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403354C-
rs63750339NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020442C-
rs63750342NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247791092GA
rs63750346NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478355C-
rs63750347NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412522CG,T
rs63750352NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403345-G
rs63750356NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803683CT
rs63750357NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800597-ATTA
rs63750362NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463138-T
rs63750364NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412455-A
rs63750375NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047565CA-
rs63750377NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803567A-
rs63750380NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012071C-
rs63750382NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410256GA,T
rs63750384NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463052G-
rs63750385NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012087-A
rs63750386NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047597AT
rs63750393NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471008GA-
rs63750396NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416388GA
rs63750398NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476451GA,T
rs63750401NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410143A-
rs63750403NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478292TG
rs63750406NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247470986A-
rs63750408NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410135T-
rs63750420NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048981GTACATA-
rs63750426NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412464TT-
rs63750434NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020432G-
rs63750436NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463088-A
rs63750437NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000977GA
rs63750439NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799173AT-
rs63750451NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275986883GA
rs63750458NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408552TG
rs63750463NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478423-A
rs63750464NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042289-A
rs63750466NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403195GA
rs63750469NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996692AA-
rs63750472NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025659G-
rs63750474NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471003AAACA-
rs63750477NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275986997T-
rs63750482NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028794C-
rs63750483NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025790CG,T
rs63750484NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050545TA
rs63750486NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047622TTG-
rs63750488NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412483CT
rs63750489NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020326CT
rs63750490NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275986925TA
rs63750493NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475100CG
rs63750495NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475053TG-
rs63750496NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429809-C
rs63750499NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050518GA,T
rs63750500NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011860AT
rs63750501NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408536ATTG-
rs63750502NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416323CT
rs63750507NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004414TG
rs63750508NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475126CG,T
rs63750515NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011828TA,G
rs63750516NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429784G-
rs63750521NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445644TG
rs63750523NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806263-AATAGCAAATGCAGTTGTTAAAGAACTTG
rs63750533NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020419A-
rs63750539NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004426CT
rs63750540NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025979AT
rs63750542NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004461AT
rs63750545NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476502-C
rs63750547NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020312TC,G
rs63750549NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048532GA,T
rs63750551NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410257AA-
rs63750552NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798797GT
rs63750554NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806329CG,T
rs63750558NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429785CT
rs63750561NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050517GA,T
rs63750563NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800996CT
rs63750564NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799818CA
rs63750572NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476565T-
rs63750574NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410337GA,T
rs63750580NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993659AC,G
rs63750581NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993608G-
rs63750582NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410217GA,T
rs63750583NA4436MSH2umls:C1333990CLINVARNA0.33183516NANANANANANA
rs63750586NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429868-A
rs63750589NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403220-A
rs63750597NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466808GA,C
rs63750603NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337049017GA,C
rs63750604NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047577GA
rs63750610NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048563CT
rs63750611NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429854CG,T
rs63750614NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403225-G
rs63750615NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403333GT
rs63750617NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247803473CG,T
rs63750618NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478395CA
rs63750623NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480707CG,T
rs63750624NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410211GA
rs63750630NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416342TC
rs63750633NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247470979T-
rs63750636NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476492CT
rs63750639NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048912GA
rs63750640NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414405TC,G
rs63750641NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000997AG
rs63750644NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403336G-
rs63750645NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004435C-
rs63750656NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993632GT
rs63750658NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004449-AA
rs63750662NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466786-GA
rs63750663NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048925GT
rs63750675NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466774G-
rs63750677NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020436-C
rs63750682NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410314C-
rs63750690NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412485GGACCTTA
rs63750691NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017521CG
rs63750693NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047652TA,C
rs63750695NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275978675AGTTA-
rs63750697NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445629TA
rs63750701NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414330A-
rs63750703NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416370AA-
rs63750704NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410115CA-
rs63750706NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993609CA,T
rs63750710NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020411AC
rs63750712NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408412CT-
rs63750713NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025996C-
rs63750715NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025699C-
rs63750722NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476521AGGA-
rs63750726NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048581CT
rs63750726237124824292MLH1umls:C1333990BeFreeEvidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family.0.3294681282014MLH1337048581CT
rs63750728NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403285ACCACAGTGC-
rs63750731NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247805696-T
rs63750735NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799789AAAG-
rs63750736NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020314GA,T
rs63750737NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247470999AA-
rs63750738NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466725C-
rs63750740NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048923A-
rs63750741NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799329TC
rs63750745NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993556C-
rs63750748NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025908C-
rs63750749NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025788T-
rs63750753240403392956MSH6umls:C1333990BeFreeWe recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q, and found all three to behave like wild type MSH6.0.2771115922013MSH6247803507CA,G,T
rs63750760NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025751CT
rs63750764NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014447T-
rs63750767NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806607-TCAAAAGGGACATAGAAAA
rs63750769NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048990TG-
rs63750778NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416362CT
rs63750780NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466699CT
rs63750781NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004444CG,T
rs63750786NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410319-G
rs63750792NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993630CT
rs63750793NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS276004040T-
rs63750796NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020380GA,T
rs63750803NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478422-T,TT
rs63750806NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475124-GT
rs63750807NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445592-A
rs63750808NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247482797CT
rs63750809NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048952TC,G
rs63750814NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017575-A
rs63750819NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014499-G
rs63750822NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993614G-
rs63750823NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993614GA,T
rs63750824NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040249C-
rs63750828NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416351GA
rs63750833NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247801138AG-
rs63750843NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410235CG,T
rs63750844NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475029TC,G
rs63750845NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466734A-
rs63750849NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480816CA,T
rs63750850NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996689GA
rs63750853NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020436C-
rs63750854NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799405-TG
rs63750855NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028863C-
rs63750857NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480773CT
rs63750859NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337049006TC-
rs63750865NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337006992G-
rs63750866NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337006992GC
rs63750871NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS276002590GA
rs63750872NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476452TA
rs63750875NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475171GC
rs6375087515929773324APCumls:C1333990BeFreeIn addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined.0.0076003722005MSH2247475171GC
rs63750875214197714436MSH2umls:C1333990BeFreeThe MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lynch syndrome, with a prevalence of 0.4%-0.7%.0.331835162011MSH2247475171GC
rs63750875159297734436MSH2umls:C1333990BeFreeIn addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined.0.331835162005MSH2247475171GC
rs63750875186746564436MSH2umls:C1333990BeFreeA founder mutation A636P in the MSH2 gene was found to be related to hereditary nonpolyposis colorectal cancer in Ashkenazi Jews.0.331835162008MSH2247475171GC
rs63750875174146044436MSH2umls:C1333990BeFreeWe previously described a founder mutation, MSH2*1906G >C (A636P) that causes HNPCC in 8/1345 (0.59%) of Ashkenazim with colorectal cancer.0.331835162007MSH2247475171GC
rs63750881NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412504AC,T
rs63750885NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414375-AT
rs63750889NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017566TA
rs63750891NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337008824TG
rs63750893NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475176C-
rs63750894NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403320TA,G
rs63750896NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478366T-
rs63750899151390044292MLH1umls:C1333990BeFreeHNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.0.3294681282004MLH1337048562CT
rs63750899NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048562CT
rs63750903NA4292MLH1umls:C1333990CLINVARNA0.329468128NANANANANANA
rs63750904NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800702GT-
rs63750906NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004440A-
rs63750908NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012054-T
rs63750909NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799427CA,T
rs63750910NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410152CG
rs63750924NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410114TC-
rs63750933NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410240G-
rs63750934NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414368CT
rs63750936NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463121CT
rs63750938NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017555TA
rs63750940NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800834CTCCTGGA-
rs63750948NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014493TC,G
rs63750951NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403372CT
rs63750952NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996693AG
rs63750955NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798634-T
rs63750957NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445623AG-
rs63750960NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475154GAAG-
rs63750961NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476450TC
rs63750962NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020347-GC
rs63750970NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408478CT
rs63750971NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050536CA-
rs63750984NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403310G-
rs63750986NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463101A-
rs63750993NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020336AG,T
rs63750995NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410343-A
rs63750996NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247798689CT
rs63751007NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247482806C-
rs63751012NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993656GA,T
rs63751013NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410233TACA-
rs63751015NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025808CT-
rs63751017NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800714CT
rs63751018NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478493TG
rs63751022NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050523GA
rs63751027NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416387GA
rs63751029NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275999270A-
rs63751031NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028863-C
rs63751036NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478301TA-
rs63751044NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416323CA-
rs63751045NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007038-C
rs63751056NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403301T-
rs63751058NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247806325TG
rs63751059NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429914G-
rs63751077NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247796035CA
rs63751079NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478488-G
rs63751081NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042272GT
rs63751087NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040271CG
rs63751090NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799563T-
rs63751094NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996624AG
rs63751099NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403219CA,T
rs63751105NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478353GA,C
rs63751108NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429881CT
rs63751109NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996633CT
rs63751110NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410322TC
rs63751115NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414357TT-
rs63751117NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480722C-
rs63751118NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025850GA-
rs63751119NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478312GA
rs63751120NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247470968A-
rs63751123NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476371C-
rs63751124NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007007GT
rs63751127NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800177CA,T
rs63751129NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475074T-
rs63751131NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993591-T
rs63751133NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414286GT-
rs63751140NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471062GC
rs63751142NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429887-T
rs63751143NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478356T-
rs63751147NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416375TC
rs63751149NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471002AG,T
rs63751153NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337025823CT
rs63751155NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478289CA,G
rs63751156NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478289CATT-
rs63751158NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408444-T
rs63751159NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247414312T-
rs63751160NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412527G-
rs63751161NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476376T-
rs63751167NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799943-GTGA
rs63751169NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429857-G
rs63751192NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429884-CGAC
rs63751194NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017508CA,T
rs63751195NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408533A-
rs63751200NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048596GA-
rs63751206NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429908CCTA-
rs6375120779377954436MSH2umls:C1333990BeFreeWe have identified the source of the genetic instability in one ovarian tumor as a point mutation (R524P) in the human mismatch-repair gene MSH2 (Salmonella MutS homologue), which has recently been shown to be involved in hereditary nonpolyposis colorectal cancer.0.331835161994MSH2247466718GA,C,T
rs63751207NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466718GA,C,T
rs63751219NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429793-TA
rs63751221NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337001045CT
rs63751226NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410199CT
rs63751227NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410107AT-
rs63751236220869744436MSH2umls:C1333990BeFreePathogenicity of A600V variant in exon 12 of the MSH2 gene detected in a Japanese kindred with Lynch syndrome.0.331835162012MSH2247475064CT
rs63751240NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047599-A
rs63751244NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042269GT
rs63751246NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403273GA,T
rs63751247NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047639AAG-
rs63751255NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996693-A
rs63751259NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020364-A
rs63751266NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996663G-
rs63751271NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429880CA
rs63751274NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410370CT
rs63751275NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048973CT
rs63751277NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040236CT
rs63751283NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014533TG
rs63751286NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012087A-
rs63751288NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412479TTAT-
rs63751290NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410126C-
rs63751298NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471023CT
rs63751299NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471023C-
rs63751301NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048573GGGA-
rs63751302NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337007055CT
rs63751310NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048595CT
rs63751315NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445563TA
rs63751317NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475233CG
rs63751319NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806490GGAGACT-
rs63751321NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800486CG,T
rs63751326NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410304CT
rs63751327NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247804985-A
rs63751328NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247805638GA
rs63751393NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042283CG
rs63751396NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993617G-
rs63751403NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463062CG,T
rs63751405NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799287TC
rs63751407NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247801035CT-
rs63751410NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247804982GA-
rs63751411NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247471041GT
rs63751412NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429869CA,T
rs63751413NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429869C-
rs63751415NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047662TG
rs63751419NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800088CG,T
rs63751421NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337001003CT
rs63751422NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275986838GA
rs63751426NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410205CT
rs63751428NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996686CA,T
rs63751429NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408466CT
rs63751431NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996633-AATC
rs63751435NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028865G-
rs63751439NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017539-AAGC
rs63751442NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800174CT
rs63751444NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410287TC,G
rs63751447NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480739TAATTTC-
rs63751449NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410181A-
rs63751453NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476496-T
rs63751460NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042284CT
rs63751465NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996696GA,T
rs63751466NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275977629GA
rs63751468NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028788-A
rs63751469NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247482779CA,T
rs63751472NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028908GT
rs63751477NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478306GA,T
rs63751480NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011852CG
rs63751482NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247403327CACGGCGAGGACGCGCTGCTGGCCGCCCG-
rs63751483NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247416391-TT
rs63751486NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047551T-
rs63751592NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028785AAGA-
rs63751594NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047664TCTCTTT-
rs63751595NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004474GA,T
rs63751596NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040294GC,T
rs63751598NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017598AC,G
rs63751600NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463154GC,T
rs63751602NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412418TTCAA-
rs63751606NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004472CG,T
rs63751607NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337004472C-
rs63751608NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042321TC
rs63751613NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337040200TT-
rs63751614NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412556AT-
rs63751615NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012098CT
rs63751616NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047532TC
rs63751617NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429742AT
rs63751618NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480870AG-
rs63751620NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020312-T,TCCTGACAGTTT
rs63751621NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480703TG-
rs63751622NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410365TG-
rs63751624NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247480871GA,C
rs63751626NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445558-G
rs63751632NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047683GA
rs63751637NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012019GA-
rs63751639NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337047671GGAAA-
rs63751640NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247476367GA,C,T
rs63751642NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337000960AGA-
rs63751646NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445559AT
rs63751651NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337050486AG-
rs63751652NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337049013AGCA-
rs63751653NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337011862A-
rs63751656NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247466807AC,G,T
rs63751657NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042331GA,C
rs63751659NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337014437-T
rs63751662NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048609GA,T
rs63751665NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337001053GA,C,T
rs63751667NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429934-A
rs63751668NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475270GA,C
rs63751677NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028786-A
rs63751682NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337048608AC,G
rs63751685NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042325G-
rs63751689NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028928-T
rs63751691NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337001040GCTTTCGAGGTG-
rs63751693NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247445556CT
rs63751695NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247410369ACAG-
rs63751700NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247475261AT-
rs63751701NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993663GA,T
rs63751704NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1336996707A-
rs63751705NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337028923GC,T
rs63751707NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337017597CG,T
rs63751709NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337042317GT-
rs63751710NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337006995AGGTT
rs63751711NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337012099GA,T
rs63751712NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247429929GT
rs63751715NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020463GA,C,T
rs63751891NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993562AGGGGTTATTCGGC-
rs63751892NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1;EPM2AIP1336993565GGTTATTCGGCGGCTGG-
rs71539659NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799852C-
rs758048239NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275987525-T,TTT
rs786201042NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247783243CT
rs786201050NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800213-G
rs786203036NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247463086TA,G
rs786204048NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247800127AC-
rs786204050NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247478342G-
rs786204104NA5395PMS2umls:C1333990CLINVARNA0.262258234NAPMS275987580G-
rs786204144NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247412550-A
rs786204180NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6;FBXO11247806628-AATC
rs786204252NA2956MSH6umls:C1333990CLINVARNA0.277111592NAMSH6247799090TT-
rs786204257NA4436MSH2umls:C1333990CLINVARNA0.33183516NAMSH2247408450-T
rs786204317NA4292MLH1umls:C1333990CLINVARNA0.329468128NAMLH1337020401G-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:17)
HP ID HP Name MP ID MP Name Annotation
HP:0012113Abnormality of creatine metabolismMP:0010062decreased creatine levelreduction in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized
HP:0002893Pituitary adenomaMP:0013383increased sebaceous gland adenoma incidencegreater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period
HP:0007256Abnormal pyramidal signsMP:0009940abnormal hippocampus pyramidal cell morphologyany structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from
HP:0002239Gastrointestinal hemorrhageMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0001402Hepatocellular carcinomaMP:0010367increased spindle cell carcinoma incidencegreater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s
HP:0002671Basal cell carcinomaMP:0013696increased granulocyte monocyte progenitor cell numberincrease in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0010622Neoplasm of the skeletal systemMP:0010287increased reproductive system tumor incidencegreater than the expected number of tumors originating in the reproductive system in a given population in a given time period
HP:0001123Visual field defectMP:0010402ventricular septal defectabnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions
HP:0001252Muscular hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0100835Benign neoplasm of the central nervous systemMP:0003125abnormal septation of the cloacaabsence of or reduction in the separation of the single opening of the digestive, urinary, and reproductive tracts (cloaca) into multiple isolated openings during development, may result in hypospadia, reduced anogenital distance, or persistent cloaca
HP:0001522Death in infancyMP:0000790abnormal stratification in cerebral cortexabnormal formation or pattern of the layers of the cerebral cortex
HP:0007018Attention deficit hyperactivity disorderMP:0001399hyperactivitygeneral restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity
HP:0100031Neoplasm of the thyroid glandMP:0010316increased thyroid tumor incidencegreater than the expected number of neoplams in the thyroid occurring in a specific population in a given time period
HP:0002017Nausea and vomitingMP:0010426abnormal heart and great artery attachmentany anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
HP:0100743Neoplasm of the rectumMP:0008261arrest of male meiosiscessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell
HP:0002894Neoplasm of the pancreasMP:0008261arrest of male meiosiscessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell
HP:0001824Weight lossMP:0005114premature hair lossrelease of fur at an earlier than expected time
Mapped by homologous gene(Total Items:49)
HP ID HP Name MP ID MP Name Annotation
HP:0001252Muscular hypotoniaMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000739AnxietyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002516Increased intracranial pressureMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0002893Pituitary adenomaMP:0014167ectopic bonethe appearance of an extra bone structure at an atypical location
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001522Death in infancyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000708Behavioral abnormalityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001288Gait disturbanceMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003401ParesthesiaMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001371Flexion contractureMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0004374Hemiplegia/hemiparesisMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002024MalabsorptionMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002671Basal cell carcinomaMP:0013956decreased colon lengthreduced length of the portion of the large intestine between the cecum and the rectum
HP:0007018Attention deficit hyperactivity disorderMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0003006NeuroblastomaMP:0014130thymus cystspresence of fluid-filled spaces lined by epithelium within the thymus; thymic cysts are rare mediastinal lesions and are thought to result from the congenital persistence of thymopharyngeal tracts and acquired, progressive cystic degeneration of thymic (H
HP:0100576Amaurosis fugaxMP:0014071increased cardiac muscle glycogen levelgreater than the normal concentration of a readily converted carbohydrate reserve in heart muscle
HP:0001260DysarthriaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002239Gastrointestinal hemorrhageMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0002017Nausea and vomitingMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001123Visual field defectMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0012378FatigueMP:0013659abnormal erythroid lineage cell morphologyany structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0002894Neoplasm of the pancreasMP:0014126increased mammary gland apoptosisincrease in the number of any cells of a mammary gland undergoing programmed cell death
HP:0000737IrritabilityMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0007256Abnormal pyramidal signsMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001824Weight lossMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0100031Neoplasm of the thyroid glandMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0001276HypertoniaMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002027Abdominal painMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0100615Ovarian neoplasmMP:0014126increased mammary gland apoptosisincrease in the number of any cells of a mammary gland undergoing programmed cell death
HP:0100835Benign neoplasm of the central nervous systemMP:0011865abnormal podocyte motilityany anomaly in the ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM); motility refers to the dynamic reorganization of the interdigitating FP structure in vivo , and to the
HP:0002376Developmental regressionMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001402Hepatocellular carcinomaMP:0013745abnormal eyelid margin morphologyany structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium
HP:0010524AgnosiaMP:0012727abnormal uterine spiral artery remodelingany anomaly of the physiological conversion of the uterine spiral arteries into highly dilated vessels by the action of invading trophoblast; in pregnancy, trophoblast invasion and uterine spiral artery remodeling are important for lowering maternal vascu
HP:0100613Death in early adulthoodMP:0013659abnormal erythroid lineage cell morphologyany structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0012113Abnormality of creatine metabolismMP:0011471decreased urine creatinine levela reduced amount of creatinine in the urine compared to the normal state
HP:0002076MigraineMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0200008Intestinal polyposisMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0002167Neurological speech impairmentMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0100843GlioblastomaMP:0012431increased lymphoma incidencegreater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
HP:0010622Neoplasm of the skeletal systemMP:0014179abnormal blood-retinal barrier functionanomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0003003Colon cancerMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0002354Memory impairmentMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0100743Neoplasm of the rectumMP:0014083blunted small intestinal villiabnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal d
HP:0000738HallucinationsMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000716DepressionMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002019ConstipationMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0000505Visual impairmentMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0006725Pancreatic adenocarcinomaMP:0012431increased lymphoma incidencegreater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
HP:0100660DyskinesiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
Disease ID 28
Disease lynch syndrome
Case(Waiting for update.)