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PedAM

Pediatric Disease Annotations & Medicines



   gastrointestinal stromal tumor
  

Disease ID 52
Disease gastrointestinal stromal tumor
Definition
All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).
Synonym
gant
gants
gastrointestinal pacemaker cell tumor
gastrointestinal pacemaker cell tumour
gastrointestinal stroma tumor
gastrointestinal stromal neoplasm
gastrointestinal stromal neoplasms
gastrointestinal stromal tumor (disorder)
gastrointestinal stromal tumor (gist)
gastrointestinal stromal tumor (morphologic abnormality)
gastrointestinal stromal tumors
gastrointestinal stromal tumors [disease/finding]
gastrointestinal stromal tumour
gastrointestinal stromal tumours
gist
gist - gastrointestinal stromal tumor
gist - gastrointestinal stromal tumour
gists
neoplasm, gastrointestinal stromal
neoplasms, gastrointestinal stromal
stromal neoplasm, gastrointestinal
stromal neoplasms, gastrointestinal
stromal tumor, gastrointestinal
stromal tumors, gastrointestinal
tumor, gastrointestinal stromal
tumors, gastrointestinal stromal
Orphanet
OMIM
DOID
UMLS
C0238198
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:49)
C0085113  |  neurofibromatosis  |  8
C0278701  |  gastric adenocarcinoma  |  3
C0021933  |  intussusception  |  3
C0027726  |  nephrotic syndrome  |  3
C0001418  |  adenocarcinomas  |  3
C0015230  |  rash  |  2
C0023418  |  leukemia  |  2
C0494165  |  liver metastases  |  2
C0023269  |  leiomyosarcoma  |  2
C0001418  |  adenocarcinoma  |  2
C0024623  |  gastric cancer  |  2
C0030807  |  pemphigus  |  1
C0018553  |  cowden syndrome  |  1
C0011991  |  diarrhea  |  1
C0494165  |  liver metastasis  |  1
C0338106  |  colon adenocarcinoma  |  1
C0000889  |  acanthosis nigricans  |  1
C1266119  |  solitary fibrous tumor  |  1
C0014859  |  esophageal tumor  |  1
C0238246  |  liver hemangioma  |  1
C0936248  |  chondroma  |  1
C0030809  |  pemphigus vulgaris  |  1
C0023903  |  liver tumor  |  1
C0079744  |  diffuse large b-cell lymphoma  |  1
C0279651  |  gallbladder adenocarcinoma  |  1
C0376545  |  hematologic neoplasms  |  1
C0023470  |  myelogenous leukemia  |  1
C0025037  |  meckel's diverticulum  |  1
C0030421  |  paraganglioma  |  1
C0686619  |  lymph node metastases  |  1
C0278678  |  metastatic renal cell carcinoma  |  1
C0021933  |  intestinal intussusception  |  1
C0023895  |  liver disease  |  1
C0023470  |  myeloid leukemia  |  1
C0021843  |  bowel obstruction  |  1
C0032580  |  adenomatous polyposis  |  1
C0020255  |  hydrocephalus  |  1
C0001339  |  acute pancreatitis  |  1
C0018916  |  hemangioma  |  1
C0032580  |  familial adenomatous polyposis  |  1
C0021845  |  bowel perforation  |  1
C0549423  |  obstructive hydrocephalus  |  1
C0023467  |  acute myeloid leukemia  |  1
C1368066  |  pancreatic gastrinoma  |  1
C0870082  |  hyperkeratosis  |  1
C0012569  |  diplopia  |  1
C0279682  |  bladder adenocarcinoma  |  1
C0001824  |  agranulocytosis  |  1
C0027947  |  neutropenia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:10)
SDHA  |  6389  |  ORPHANET;GHR
KIT  |  3815  |  CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
PDGFRA  |  5156  |  CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
DMD  |  1756  |  CTD_human
MTHFR  |  4524  |  CLINVAR
BRAF  |  673  |  GHR
MTRR  |  4552  |  CLINVAR
SDHD  |  6392  |  GHR
SDHB  |  6390  |  CLINVAR;ORPHANET;GHR
SDHC  |  6391  |  CLINVAR;ORPHANET;GHR
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:17)
673  |  BRAF  |  infer
834  |  CASP1  |  infer
843  |  CASP10  |  infer
23581  |  CASP14  |  infer
835  |  CASP2  |  infer
836  |  CASP3  |  infer
837  |  CASP4  |  infer
838  |  CASP5  |  infer
839  |  CASP6  |  infer
840  |  CASP7  |  infer
841  |  CASP8  |  infer
842  |  CASP9  |  infer
3162  |  HMOX1  |  infer
3815  |  KIT  |  infer
3845  |  KRAS  |  infer
4893  |  NRAS  |  infer
5156  |  PDGFRA  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:193)
928  |  CD9  |  DISEASES
6515  |  SLC2A3  |  DISEASES
770  |  CA11  |  DISEASES
26469  |  PTPN18  |  DISEASES
1113  |  CHGA  |  DISEASES
1577  |  CYP3A5  |  DISEASES
595  |  CCND1  |  DISEASES
4254  |  KITLG  |  DISEASES
83892  |  KCTD10  |  DISEASES
1027  |  CDKN1B  |  DISEASES
2026  |  ENO2  |  DISEASES
3196  |  TLX2  |  DISEASES
9429  |  ABCG2  |  DISEASES
22865  |  SLITRK3  |  DISEASES
2322  |  FLT3  |  DISEASES
4656  |  MYOG  |  DISEASES
10212  |  DDX39A  |  DISEASES
23002  |  DAAM1  |  DISEASES
8139  |  GAN  |  DISEASES
968  |  CD68  |  DISEASES
6320  |  CLEC11A  |  DISEASES
55821  |  ALLC  |  DISEASES
25796  |  PGLS  |  DISEASES
79652  |  TMEM204  |  DISEASES
3845  |  KRAS  |  DISEASES
5156  |  PDGFRA  |  DISEASES
1019  |  CDK4  |  DISEASES
5037  |  PEBP1  |  DISEASES
999  |  CDH1  |  DISEASES
5159  |  PDGFRB  |  DISEASES
2324  |  FLT4  |  DISEASES
5874  |  RAB27B  |  DISEASES
23361  |  ZNF629  |  DISEASES
6598  |  SMARCB1  |  DISEASES
5588  |  PRKCQ  |  DISEASES
6855  |  SYP  |  DISEASES
23264  |  ZC3H7B  |  DISEASES
10254  |  STAM2  |  DISEASES
3791  |  KDR  |  DISEASES
6774  |  STAT3  |  DISEASES
8626  |  TP63  |  DISEASES
6389  |  SDHA  |  DISEASES
5243  |  ABCB1  |  DISEASES
29999  |  FSCN3  |  DISEASES
8034  |  SLC25A16  |  DISEASES
6252  |  RTN1  |  DISEASES
4123  |  MAN2C1  |  DISEASES
3480  |  IGF1R  |  DISEASES
7157  |  TP53  |  DISEASES
2064  |  ERBB2  |  DISEASES
207  |  AKT1  |  DISEASES
6502  |  SKP2  |  DISEASES
1956  |  EGFR  |  DISEASES
54539  |  NDUFB11  |  DISEASES
4103  |  MAGEA4  |  DISEASES
5805  |  PTS  |  DISEASES
3742  |  KCNA6  |  DISEASES
2321  |  FLT1  |  DISEASES
2697  |  GJA1  |  DISEASES
7345  |  UCHL1  |  DISEASES
9947  |  MAGEC1  |  DISEASES
1436  |  CSF1R  |  DISEASES
6750  |  SST  |  DISEASES
3815  |  KIT  |  DISEASES
3837  |  KPNB1  |  DISEASES
58500  |  ZNF250  |  DISEASES
213  |  ALB  |  DISEASES
84191  |  FAM96A  |  DISEASES
348093  |  RBPMS2  |  DISEASES
7644  |  ZNF91  |  DISEASES
558  |  AXL  |  DISEASES
54949  |  SDHAF2  |  DISEASES
55106  |  SLFN12  |  DISEASES
3479  |  IGF1  |  DISEASES
169044  |  COL22A1  |  DISEASES
1493  |  CTLA4  |  DISEASES
8436  |  SDPR  |  DISEASES
84376  |  HOOK3  |  DISEASES
4884  |  NPTX1  |  DISEASES
3265  |  HRAS  |  DISEASES
947  |  CD34  |  DISEASES
80818  |  ZNF436  |  DISEASES
23512  |  SUZ12  |  DISEASES
115207  |  KCTD12  |  DISEASES
4233  |  MET  |  DISEASES
4684  |  NCAM1  |  DISEASES
5315  |  PKM  |  DISEASES
6867  |  TACC1  |  DISEASES
3039  |  HBA1  |  DISEASES
283518  |  KCNRG  |  DISEASES
5518  |  PPP2R1A  |  DISEASES
148266  |  ZNF569  |  DISEASES
3326  |  HSP90AB1  |  DISEASES
5494  |  PPM1A  |  DISEASES
64764  |  CREB3L2  |  DISEASES
7639  |  ZNF85  |  DISEASES
6753  |  SSTR3  |  DISEASES
5155  |  PDGFB  |  DISEASES
7490  |  WT1  |  DISEASES
1485  |  CTAG1B  |  DISEASES
5138  |  PDE2A  |  DISEASES
3320  |  HSP90AA1  |  DISEASES
887  |  CCKBR  |  DISEASES
1576  |  CYP3A4  |  DISEASES
23583  |  SMUG1  |  DISEASES
9402  |  GRAP2  |  DISEASES
6776  |  STAT5A  |  DISEASES
653145  |  ANXA8  |  DISEASES
7743  |  ZNF189  |  DISEASES
259197  |  NCR3  |  DISEASES
1499  |  CTNNB1  |  DISEASES
4771  |  NF2  |  DISEASES
538  |  ATP7A  |  DISEASES
5154  |  PDGFA  |  DISEASES
7594  |  ZNF43  |  DISEASES
55107  |  ANO1  |  DISEASES
5979  |  RET  |  DISEASES
51710  |  ZNF44  |  DISEASES
6752  |  SSTR2  |  DISEASES
5887  |  RAD23B  |  DISEASES
54879  |  ST7L  |  DISEASES
6714  |  SRC  |  DISEASES
4763  |  NF1  |  DISEASES
4149  |  MAX  |  DISEASES
5139  |  PDE3A  |  DISEASES
55243  |  KIRREL  |  DISEASES
4311  |  MME  |  DISEASES
6663  |  SOX10  |  DISEASES
4916  |  NTRK3  |  DISEASES
6772  |  STAT1  |  DISEASES
2475  |  MTOR  |  DISEASES
800  |  CALD1  |  DISEASES
8678  |  BECN1  |  DISEASES
58  |  ACTA1  |  DISEASES
6580  |  SLC22A1  |  DISEASES
9926  |  LPGAT1  |  DISEASES
6004  |  RGS16  |  DISEASES
6391  |  SDHC  |  DISEASES
3298  |  HSF2  |  DISEASES
8799  |  PEX11B  |  DISEASES
116442  |  RAB39B  |  DISEASES
3897  |  L1CAM  |  DISEASES
5728  |  PTEN  |  DISEASES
7422  |  VEGFA  |  DISEASES
25  |  ABL1  |  DISEASES
5303  |  PIN4  |  DISEASES
253430  |  IPMK  |  DISEASES
6390  |  SDHB  |  DISEASES
727837  |  SSX2B  |  DISEASES
6392  |  SDHD  |  DISEASES
7088  |  TLE1  |  DISEASES
158471  |  PRUNE2  |  DISEASES
6756  |  SSX1  |  DISEASES
10082  |  GPC6  |  DISEASES
1787  |  TRDMT1  |  DISEASES
11332  |  ACOT7  |  DISEASES
644096  |  SDHAF1  |  DISEASES
4739  |  NEDD9  |  DISEASES
7010  |  TEK  |  DISEASES
284390  |  ZNF763  |  DISEASES
2315  |  MLANA  |  DISEASES
29126  |  CD274  |  DISEASES
6624  |  FSCN1  |  DISEASES
51244  |  CCDC174  |  DISEASES
388698  |  FLG2  |  DISEASES
238  |  ALK  |  DISEASES
10203  |  CALCRL  |  DISEASES
3965  |  LGALS9  |  DISEASES
4239  |  MFAP4  |  DISEASES
115560  |  ZNF501  |  DISEASES
272  |  AMPD3  |  DISEASES
144195  |  SLC2A14  |  DISEASES
5609  |  MAP2K7  |  DISEASES
2115  |  ETV1  |  DISEASES
23132  |  RAD54L2  |  DISEASES
3481  |  IGF2  |  DISEASES
55743  |  CHFR  |  DISEASES
2260  |  FGFR1  |  DISEASES
1029  |  CDKN2A  |  DISEASES
960  |  CD44  |  DISEASES
2130  |  EWSR1  |  DISEASES
147372  |  CCBE1  |  DISEASES
6760  |  SS18  |  DISEASES
8842  |  PROM1  |  DISEASES
6513  |  SLC2A1  |  DISEASES
4193  |  MDM2  |  DISEASES
84623  |  KIRREL3  |  DISEASES
55733  |  HHAT  |  DISEASES
5134  |  PDCD2  |  DISEASES
91750  |  LIN52  |  DISEASES
84033  |  OBSCN  |  DISEASES
8148  |  TAF15  |  DISEASES
767558  |  LUZP6  |  DISEASES
Locus
Symbol | Locus(Total Locus:5)
KIT  |  4q12
PDGFRA  |  4q12
SDHA  |  5p15.33
SDHB  |  1p36.13
SDHC  |  1q23.3
Disease ID 52
Disease gastrointestinal stromal tumor
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:18)
HP:0001392  |  Abnormality of the liver
HP:0001903  |  Anemia
HP:0005214  |  Intestinal obstruction
HP:0007400  |  Irregular hyperpigmentation
HP:0002239  |  Gastrointestinal hemorrhage
HP:0100242  |  Sarcoma
HP:0012378  |  Fatigue
HP:0000988  |  Skin rash
HP:0002015  |  Dysphagia
HP:0002019  |  Constipation
HP:0100273  |  Neoplasm of the colon
HP:0100743  |  Neoplasm of the rectum
HP:0100723  |  Gastrointestinal stroma tumor
HP:0002017  |  Nausea and vomiting
HP:0100751  |  Esophageal neoplasm
HP:0006753  |  Neoplasm of the stomach
HP:0007378  |  Neoplasm of the gastrointestinal tract
HP:0100833  |  Neoplasm of the small intestine
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:39)
HP:0001067  |  Neurofibromas  |  8
HP:0002664  |  Neoplasia  |  8
HP:0002584  |  Intestinal hemorrhage  |  4
HP:0002239  |  Gastrointestinal hemorrhage  |  4
HP:0002576  |  Intussusception  |  3
HP:0000100  |  Nephrosis  |  3
HP:0011854  |  Hemoperitoneum  |  2
HP:0012126  |  Gastric cancer  |  2
HP:0100243  |  Leiomyosarcoma  |  2
HP:0100523  |  Hepatic abscess  |  2
HP:0001909  |  Leukemia  |  2
HP:0002896  |  Liver cancer  |  1
HP:0002014  |  Diarrhea  |  1
HP:0005214  |  Bowel obstruction  |  1
HP:0100751  |  Esophageal neoplasm  |  1
HP:0000651  |  Diplopia  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0001875  |  Neutropenia  |  1
HP:0002018  |  Nausea  |  1
HP:0000956  |  Keratosis nigricans  |  1
HP:0001028  |  Strawberry mark  |  1
HP:0005203  |  Spontaneous esophageal rupture  |  1
HP:0001289  |  Confusion  |  1
HP:0030731  |  Carcinoma  |  1
HP:0002835  |  Aspiration  |  1
HP:0012324  |  Myeloid leukemia  |  1
HP:0002202  |  Pleural effusion  |  1
HP:0000718  |  Aggressive behaviour  |  1
HP:0000238  |  Nonsyndromal hydrocephalus  |  1
HP:0001945  |  Fever  |  1
HP:0001880  |  Eosinophilia  |  1
HP:0000988  |  Exanthem  |  1
HP:0000962  |  Hyperkeratosis  |  1
HP:0010765  |  Palmar hyperkeratosis  |  1
HP:0001907  |  Thromboembolic disease  |  1
HP:0004808  |  Acute myelogenous leukemia  |  1
HP:0002668  |  Paragangliomas  |  1
HP:0001747  |  Accessory spleen  |  1
HP:0012234  |  Agranulocytosis  |  1
Disease ID 52
Disease gastrointestinal stromal tumor
Manually Symptom
UMLS  | Name(Total Manually Symptoms:11)
C1963106  |  esophagitis
C1527249  |  colorectal cancer
C1519670  |  tumor angiogenesis
C0521610  |  emphysematous cholecystitis
C0494165  |  liver metastases
C0341215  |  gastroduodenal intussusception
C0149927  |  pulmonary hamartoma
C0026764  |  multiple myeloma
C0023321  |  lentigines
C0018802  |  congestive heart failure
C0010043  |  ulcerative keratitis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:64)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1056836236379771545CYP1B1umls:C0238198BeFreeAlthough none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836).0.0002714422013CYP1B1238071060GC
rs1056836236379773815KITumls:C0238198BeFreeAlthough none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836).0.7602395442013CYP1B1238071060GC
rs11348802219561230673BRAFumls:C0238198BeFreeV600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours.0.0118014842009BRAF7140753336AT,G,C
rs113488022200232706635SNRPEumls:C0238198BeFreeBRAF V600E detection in the tumor does not induce a higher expression of the B-raf protein or the preferential activation of the p42/44 mitogen-activated protein kinase (MAPK) signaling pathway compared with GISTs without the BRAF mutation.0.0002714422010BRAF7140753336AT,G,C
rs11348802218615679673BRAFumls:C0238198BeFreeNovel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors.0.0118014842008BRAF7140753336AT,G,C
rs11348802223343956673BRAFumls:C0238198BeFreeWe constructed tissue microarrays of formalin-fixed and paraffin-embedded specimens of 534 gastroesophageal tumors (119 squamous cell cancers and 72 adenocarcinomas of the esophagus, 63 cancers of the gastroesophageal junction/cardia, 199 gastric cancers of the corpus or antrum, 81 gastric gastrointestinal stromal tumors) and performed anti-BRAF-V600E immunostaining using the mutation-specific antibody VE1.0.0118014842014BRAF7140753336AT,G,C
rs113488022195612305156PDGFRAumls:C0238198BeFreeV600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours.0.6156472942009BRAF7140753336AT,G,C
rs11348802226486743673BRAFumls:C0238198BeFreeUtility of BRAF V600E mutation-specific immunohistochemistry in detecting BRAF V600E-mutated gastrointestinal stromal tumors.0.0118014842016BRAF7140753336AT,G,C
rs121908585NA5156PDGFRAumls:C0238198CLINVARNA0.615647294NAPDGFRA454285926AT
rs121908585241246083342HTC2umls:C0238198BeFreeWe performed an association study between copy number alterations (CNAs) identified from array CGH and gene expression analyses results for four wild-type GISTs and an imatinib-resistant PDGFRA D842V mutant GIST, and compared the results to those obtained from 27 GISTs with KIT mutations.0.0010857672013PDGFRA454285926AT
rs121908585227437605156PDGFRAumls:C0238198BeFreeThe choice also should be personalized on the basis of genotype: generally, PDGFRA D842V mutated and wild-type GIST are excluded.0.6156472942012PDGFRA454285926AT
rs121908585152219573815KITumls:C0238198BeFreePreviously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp842 to Val, in about half of GISTs without c-kit gene mutations.0.7602395442004PDGFRA454285926AT
rs121908585227451055156PDGFRAumls:C0238198BeFreeCrenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors.0.6156472942012PDGFRA454285926AT
rs121908585156138565156PDGFRAumls:C0238198BeFreePDGFRA exon 18 mutations (total 86 cases) were common in epithelioid GISTs and most commonly represented a D842V point mutation; none of these was prognostically significant.0.6156472942005PDGFRA454285926AT
rs1219085852412460810993SDSumls:C0238198BeFreemRNA expression levels of all SDH gene subunits were significantly lower (P≤0.041), whereas mRNA expression levels of VEGF (P=0.025), IGF1R (P=0.026), and ZNFs (P<0.05) were significantly higher in GISTs with wild-type/PDGFRA D842V mutations than GISTs with KIT mutations.0.0024429772013PDGFRA454285926AT
rs121908585241246086390SDHBumls:C0238198BeFreemRNA expression levels of all SDH gene subunits were significantly lower (P≤0.041), whereas mRNA expression levels of VEGF (P=0.025), IGF1R (P=0.026), and ZNFs (P<0.05) were significantly higher in GISTs with wild-type/PDGFRA D842V mutations than GISTs with KIT mutations.0.2495103972013PDGFRA454285926AT
rs121908585152219575156PDGFRAumls:C0238198BeFreePreviously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp842 to Val, in about half of GISTs without c-kit gene mutations.0.6156472942004PDGFRA454285926AT
rs121908585241246081757SARDHumls:C0238198BeFreemRNA expression levels of all SDH gene subunits were significantly lower (P≤0.041), whereas mRNA expression levels of VEGF (P=0.025), IGF1R (P=0.026), and ZNFs (P<0.05) were significantly higher in GISTs with wild-type/PDGFRA D842V mutations than GISTs with KIT mutations.0.0024429772013PDGFRA454285926AT
rs121908585241246087422VEGFAumls:C0238198BeFreemRNA expression levels of all SDH gene subunits were significantly lower (P≤0.041), whereas mRNA expression levels of VEGF (P=0.025), IGF1R (P=0.026), and ZNFs (P<0.05) were significantly higher in GISTs with wild-type/PDGFRA D842V mutations than GISTs with KIT mutations.0.0054387692013PDGFRA454285926AT
rs121908585241246083480IGF1Rumls:C0238198BeFreemRNA expression levels of all SDH gene subunits were significantly lower (P≤0.041), whereas mRNA expression levels of VEGF (P=0.025), IGF1R (P=0.026), and ZNFs (P<0.05) were significantly higher in GISTs with wild-type/PDGFRA D842V mutations than GISTs with KIT mutations.0.0032573022013PDGFRA454285926AT
rs1219085852461808181608FIP1L1umls:C0238198BeFreeActivated forms of the platelet derived growth factor receptor alpha (PDGFRα) have been described in various tumors, including FIP1L1-PDGFRα in patients with myeloproliferative diseases associated with hypereosinophilia and the PDGFRα(D842V) mutant in gastrointestinal stromal tumors and inflammatory fibroid polyps.0.0002714422014PDGFRA454285926AT
rs121908585246180815156PDGFRAumls:C0238198BeFreeActivated forms of the platelet derived growth factor receptor alpha (PDGFRα) have been described in various tumors, including FIP1L1-PDGFRα in patients with myeloproliferative diseases associated with hypereosinophilia and the PDGFRα(D842V) mutant in gastrointestinal stromal tumors and inflammatory fibroid polyps.0.6156472942014PDGFRA454285926AT
rs121908585241246085156PDGFRAumls:C0238198BeFreeqRT-PCR validation of the GSTT1 results in this cohort and 11 additional malignant GISTs showed a significant increase in the frequency of GSTT1 CN gain and increased mRNA expression of GSTT1 in wild-type/PDGFRA D842V GISTs than KIT-mutant GISTs (P=0.033).0.6156472942013PDGFRA454285926AT
rs121908586NA5156PDGFRAumls:C0238198CLINVARNA0.615647294NAPDGFRA454274869TA
rs121908586175660865156PDGFRAumls:C0238198BeFreeThe patient was found to carry a germline PDGFRA mutation (V561D) in the heterozygote state; it has only been seen rarely before and only in the somatic state in sporadic GISTs.0.6156472942007PDGFRA454274869TA
rs121908586152219575156PDGFRAumls:C0238198BeFreePreviously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp842 to Val, in about half of GISTs without c-kit gene mutations.0.6156472942004PDGFRA454274869TA
rs121908586152219573815KITumls:C0238198BeFreePreviously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp842 to Val, in about half of GISTs without c-kit gene mutations.0.7602395442004PDGFRA454274869TA
rs121913234NA3815KITumls:C0238198CLINVARNA0.760239544NAKIT454727416AAACCCATGTATGAAGTACAGTGGAAG-
rs121913235232919695156PDGFRAumls:C0238198BeFreeOverall, we identified six novel mutations in KIT (p.K550_M552delinsL, p.Q556_W557delinsG p.Q556_G575del, p.W557_V559delinsQ p.P573_R588dup, p.G592_K593dup) and one novel mutation in PDGFRA (p.D842_N848delinsVDV), thus contributing to widening the spectrum of known mutations in GIST tumors and confirming the most frequently altered regions underlying GIST development.0.6156472942012KIT454727437TA,C,G
rs121913235232919693815KITumls:C0238198BeFreeOverall, we identified six novel mutations in KIT (p.K550_M552delinsL, p.Q556_W557delinsG p.Q556_G575del, p.W557_V559delinsQ p.P573_R588dup, p.G592_K593dup) and one novel mutation in PDGFRA (p.D842_N848delinsVDV), thus contributing to widening the spectrum of known mutations in GIST tumors and confirming the most frequently altered regions underlying GIST development.0.7602395442012KIT454727437TA,C,G
rs121913271NA5156PDGFRAumls:C0238198CLINVARNA0.615647294NAPDGFRA454274883AGCCCAGATGGACATGAACGC
rs121913506234806383815KITumls:C0238198BeFreeIntermittent and continuous imatinib in a human GIST xenograft model carrying KIT exon 17 resistance mutation D816H.0.7602395442013KIT454733154GC,T
rs121913507169122243815KITumls:C0238198BeFreeWhereas KIT juxtamembrane domain mutations seen in most patients with GIST are highly sensitive to imatinib, the kinase activation loop mutant D816V, frequently encountered in SM, hampers the binding ability of imatinib.0.7602395442007KIT454733155AT
rs121913507241280843815KITumls:C0238198BeFreeA KIT mutation was identified in six cases (67%), including three with the D816V mutation typical of adult-onset disease, and another three with an internal tandem duplication (p.A502_Y503dup) in exon 9, previously described in gastrointestinal stromal tumour.0.7602395442013KIT454733155AT
rs121913512178247953815KITumls:C0238198BeFreeImatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation.0.7602395442007KIT454728055AG
rs121913513197238933815KITumls:C0238198BeFreeActivate and resist: L576P-KIT in GIST.0.7602395442009KIT454727495TC
rs121913513235989633815KITumls:C0238198BeFreeA novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis.0.7602395442013KIT454727495TC
rs121913516237731533815KITumls:C0238198BeFreeHerein, by introducing adaptive elements into the inhibitor core structure, we undertake the structure-based development of type II hybrid inhibitors to overcome gatekeeper drug-resistant mutations in cSrc-T338M, as well as clinically relevant tyrosine kinase KIT-T670I and Abl-T315I variants, as essential targets in gastrointestinal stromal tumors (GISTs) and chronic myelogenous leukemia (CML).0.7602395442014KIT454729353CT
rs121913516159465893815KITumls:C0238198BeFreeThe reported mechanism of imatinib resistance in GISTs involves missense mutation in the kinase domain of KIT, including Thr670Ile, Tyr823Asp, and Val654Ala.0.7602395442005KIT454729353CT
rs121913517173635093815KITumls:C0238198BeFreeWe expressed c-KIT cDNA constructs encoding the V654A substitution alone and in combination with a typical activating exon 11 mutation characteristic of GIST, V560G, in factor-dependent FDC-P1 cells.0.7602395442007KIT454727444TA,C,G
rs121913517NA3815KITumls:C0238198CLINVARNA0.760239544NAKIT454727444TA,C,G
rs121913520172599983815KITumls:C0238198BeFreeThese results suggest that different mutations, even at the same codon, in juxtamembrane domain of the c-kit gene show different inhibitory effects of imatinib, and that patients with GISTs or mast cell neoplasms possessing this Val559Ile mutation are resistant to imatinib therapy.0.7602395442007KIT454727443GA
rs121913521173635093815KITumls:C0238198BeFreeWe expressed c-KIT cDNA constructs encoding the V654A substitution alone and in combination with a typical activating exon 11 mutation characteristic of GIST, V560G, in factor-dependent FDC-P1 cells.0.7602395442007KIT454727447TA,G
rs121913521152219575156PDGFRAumls:C0238198BeFreePreviously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp842 to Val, in about half of GISTs without c-kit gene mutations.0.6156472942004KIT454727447TA,G
rs121913521152219573815KITumls:C0238198BeFreePreviously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp842 to Val, in about half of GISTs without c-kit gene mutations.0.7602395442004KIT454727447TA,G
rs121913523159465893815KITumls:C0238198BeFreeThe reported mechanism of imatinib resistance in GISTs involves missense mutation in the kinase domain of KIT, including Thr670Ile, Tyr823Asp, and Val654Ala.0.7602395442005KIT454728092TC
rs121913523173635093815KITumls:C0238198BeFreeWe expressed c-KIT cDNA constructs encoding the V654A substitution alone and in combination with a typical activating exon 11 mutation characteristic of GIST, V560G, in factor-dependent FDC-P1 cells.0.7602395442007KIT454728092TC
rs1800440236379771545CYP1B1umls:C0238198BeFreeAlthough none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836).0.0002714422013CYP1B1238070996TG,C
rs1800440236379773815KITumls:C0238198BeFreeAlthough none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836).0.7602395442013CYP1B1238070996TG,C
rs1801131NA4524MTHFRumls:C0238198CLINVARNA0.12NAMTHFR111794419TG
rs1801133NA4524MTHFRumls:C0238198CLINVARNA0.12NAMTHFR111796321GA
rs1801394NA4552MTRRumls:C0238198CLINVARNA0.12NAMTRR;FASTKD357870860AG
rs2855658236379771545CYP1B1umls:C0238198BeFreeAlthough none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836).0.0002714422013CYP1B1;RMDN2238069747TC
rs2855658236379773815KITumls:C0238198BeFreeAlthough none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836).0.7602395442013CYP1B1;RMDN2238069747TC
rs2893396894388543815KITumls:C0238198UNIPROTGISTs may originate from the interstitial cells of Cajal (ICCs) because the development of ICCs is dependent on the SCF-KIT interaction and because, like GISTs, these cells express both KIT and CD34.0.7602395441998NANANANANA
rs397516835NA6390SDHBumls:C0238198CLINVARNA0.249510397NASDHB117024040CT,G
rs587776653NA6391SDHCumls:C0238198CLINVARNA0.244624443NASDHC1161356841GA,T
rs587776792NA5156PDGFRAumls:C0238198CLINVARNA0.615647294NAPDGFRA454285927CATCATGCATGA-
rs587776793NA5156PDGFRAumls:C0238198CLINVARNA0.615647294NAPDGFRA454285934CATGATTCGAAC-
rs587776794NA5156PDGFRAumls:C0238198CLINVARNA0.615647294NAPDGFRA454274868-AGAGGG
rs587776795NA5156PDGFRAumls:C0238198CLINVARNA0.615647294NAPDGFRA454274866GGGTCATTGAATCAA-
rs587776803NA3815KITumls:C0238198CLINVARNA0.760239544NAKIT454727444TTGTTG-
rs587776804NA3815KITumls:C0238198CLINVARNA0.760239544NAKIT454727420CCATGTATGAAGTAC-
rs74315368NA6390SDHBumls:C0238198CLINVARNA0.249510397NASDHB117022648CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:2)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0238198imatinib mesylateD000068877-gastrointestinal stromal tumorsMESH:D046152therapeutic16772838
C0238198sorafenibC471405-gastrointestinal stromal tumorsMESH:D046152therapeutic19139124
FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
(Waiting for update.)