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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   autoimmune thyroiditis
  

Disease ID 66
Disease autoimmune thyroiditis
Definition
progressive enlargement of the thyroid gland, often associated with hypothyroidism.
Synonym
autoimmune lymphocytic chronic thyroiditis
autoimmune thyroiditides
chr lymphocyt thyroidit
chronic lymphocytic thyroiditides
chronic lymphocytic thyroiditis
disease, hashimoto
disease, hashimoto's
hashimoto dis
hashimoto disease
hashimoto disease [disease/finding]
hashimoto struma
hashimoto syndrome
hashimoto thyroiditides
hashimoto thyroiditis
hashimoto thyroiditis (disorder)
hashimoto's disease
hashimoto's struma
hashimoto's syndrome
hashimoto's syndromes
hashimoto's thyroiditis
hashimoto's thyroiditis (disorder)
hashimotos dis
hashimotos disease
hashimotos syndrome
lymphocytic thyroiditides, chronic
lymphocytic thyroiditis
lymphocytic thyroiditis, chronic
lymphomatous thyroiditis
struma lymphomatosa
struma lymphomatosis
struma lymphomatosis (disorder)
syndrome, hashimoto's
syndromes, hashimoto's
thyroiditides, chronic lymphocytic
thyroiditides, hashimoto
thyroiditis chronic lymphocytic
thyroiditis chronic lymphocytic hashimotos
thyroiditis, chronic lymphadenoid
thyroiditis, chronic lymphocytic
thyroiditis, hashimoto
thyroiditis, lymphoid
OMIM
DOID
ICD10
UMLS
C0677607
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:139)
C0020676  |  hypothyroidism  |  45
C0007115  |  thyroid ca  |  41
C0549473  |  thyroid carcinoma  |  27
C0238463  |  papillary thyroid carcinoma  |  20
C0007115  |  thyroid cancer  |  15
C0040137  |  thyroid nodule  |  14
C0040137  |  thyroid nodules  |  12
C0011847  |  diabetes  |  12
C0020676  |  hypothyroid  |  11
C0024299  |  lymphoma  |  8
C0011849  |  diabetes mellitus  |  7
C0011854  |  type 1 diabetes  |  7
C0007133  |  papillary carcinoma  |  6
C0010403  |  cryoglobulinemia  |  5
C0238463  |  papillary thyroid cancer  |  5
C0019158  |  hepatitis  |  5
C0019196  |  hepatitis c  |  4
C0020550  |  hyperthyroidism  |  4
C0021053  |  immune disorder  |  4
C0017152  |  gastritis  |  4
C0011854  |  type 1 diabetes mellitus  |  4
C1336753  |  thyroid lymphoma  |  3
C0032460  |  polycystic ovary syndrome  |  3
C0007570  |  celiac disease  |  3
C0042900  |  vitiligo  |  3
C0032460  |  polycystic ovary  |  3
C0021053  |  immune disease  |  3
C0018021  |  goiter  |  3
C0040147  |  thyroiditis  |  2
C0242647  |  malt lymphoma  |  2
C0001403  |  addison's disease  |  2
C0238462  |  medullary thyroid carcinoma  |  2
C0241910  |  autoimmune hepatitis  |  2
C0745140  |  hyperthyroid  |  2
C0001430  |  adenoma  |  2
C0040128  |  thyroid disease  |  2
C0011633  |  dermatomyositis  |  2
C0162855  |  mucinosis  |  2
C0018021  |  struma  |  2
C0042164  |  uveitis  |  2
C0027145  |  myxedema  |  2
C0038478  |  struma ovarii  |  2
C0042769  |  virus infection  |  2
C0002171  |  alopecia areata  |  2
C0024299  |  lymphomas  |  2
C0040156  |  thyrotoxicosis  |  2
C0021053  |  immune disorders  |  2
C0238463  |  thyroid papillary carcinoma  |  2
C0001623  |  hypoadrenalism  |  2
C0409974  |  lupus erythematosus  |  2
C0042109  |  urticaria  |  1
C0003469  |  anxiety disorder  |  1
C0020428  |  aldosteronism  |  1
C0000809  |  recurrent miscarriages  |  1
C0037198  |  sinus thrombosis  |  1
C0003467  |  anxiety  |  1
C0022658  |  nephropathy  |  1
C0149925  |  small cell lung cancer  |  1
C0948265  |  metabolic syndrome  |  1
C0017658  |  glomerulonephritis  |  1
C0027538  |  necrobiosis lipoidica  |  1
C1384514  |  primary aldosteronism  |  1
C0677607  |  hashimoto's disease  |  1
C0003469  |  anxiety disorders  |  1
C0038220  |  status epilepticus  |  1
C0003873  |  rheumatoid arthritis  |  1
C0041408  |  turner's syndrome  |  1
C0242647  |  mucosa-associated lymphoid tissue lymphoma  |  1
C0031039  |  pericardial effusion  |  1
C0014038  |  encephalitis  |  1
C0342388  |  adrenocorticotropic hormone deficiency  |  1
C0011570  |  depression  |  1
C0314719  |  dry eye  |  1
C0037928  |  myelopathy  |  1
C0000786  |  miscarriage  |  1
C0036421  |  systemic sclerosis  |  1
C1527336  |  sjogren's syndrome  |  1
C0235618  |  proliferative glomerulonephritis  |  1
C0018021  |  goitre  |  1
C0040053  |  thrombosis  |  1
C0026848  |  myopathy  |  1
C0002170  |  alopecia  |  1
C0020541  |  portal hypertension  |  1
C0086692  |  benign neoplasms  |  1
C0040149  |  subacute thyroiditis  |  1
C0042769  |  viral infection  |  1
C0022951  |  lactose intolerance  |  1
C0162836  |  hidradenitis suppurativa  |  1
C0346303  |  tshoma  |  1
C0003864  |  arthritis  |  1
C0085253  |  adult-onset still's disease  |  1
C0000809  |  recurrent miscarriage  |  1
C0020640  |  hypoprothrombinemia  |  1
C0018022  |  simple goiter  |  1
C0013338  |  growth hormone deficiency  |  1
C0878544  |  cardiomyopathy  |  1
C0039446  |  telangiectasia  |  1
C0004134  |  ataxia  |  1
C0002871  |  anaemia  |  1
C0018213  |  graves' disease  |  1
C1336753  |  lymphoma of the thyroid gland  |  1
C0085655  |  polymyositis  |  1
C0023522  |  metachromatic leukodystrophy  |  1
C0029089  |  ophthalmoplegia  |  1
C0206138  |  crest syndrome  |  1
C0025235  |  melkersson-rosenthal syndrome  |  1
C0151468  |  thyroid adenoma  |  1
C0007133  |  papillary carcinomas  |  1
C0152113  |  sydenham's chorea  |  1
C0272126  |  evans syndrome  |  1
C0085113  |  neurofibromatosis  |  1
C0242379  |  lung cancer  |  1
C0011644  |  scleroderma  |  1
C0010068  |  coronary heart disease  |  1
C0033806  |  pseudohypoparathyroidism  |  1
C0002892  |  pernicious anaemia  |  1
C0018378  |  guillain barre syndrome  |  1
C0085215  |  premature ovarian failure  |  1
C0339143  |  thyroid-associated ophthalmopathy  |  1
C0086692  |  benign neoplasm  |  1
C0017665  |  membranous nephropathy  |  1
C0004135  |  ataxia telangiectasia  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0085273  |  parvovirus b19 infection  |  1
C0000786  |  miscarriages  |  1
C0085160  |  hidradenitis  |  1
C0015464  |  facial palsy  |  1
C0017154  |  atrophic gastritis  |  1
C0011854  |  insulin-dependent diabetes  |  1
C0677607  |  hashimoto's thyroiditis  |  1
C0023520  |  leukodystrophy  |  1
C0018799  |  heart disease  |  1
C0085293  |  hepatitis e  |  1
C0079774  |  peripheral t-cell lymphoma  |  1
C0242647  |  mucosa-associated lymphoid tissue  |  1
C0262587  |  parathyroid adenoma  |  1
C0017662  |  membranoproliferative glomerulonephritis  |  1
C0011854  |  insulin-dependent diabetes mellitus  |  1
C0011649  |  dermoid cyst  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:8)
3123  |  HLA-DRB1  |  GHR
7038  |  TG  |  CTD_human;GHR
1493  |  CTLA4  |  CTD_human;GHR
7253  |  TSHR  |  CTD_human
115352  |  FCRL3  |  CTD_human
716  |  C1S  |  CTD_human
2215  |  FCGR3B  |  UNIPROT
57623  |  ZFAT  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:20)
1734  |  DIO2  |  CIPHER
3117  |  HLA-DQA1  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
3553  |  IL1B  |  CIPHER
3557  |  IL1RN  |  CIPHER
3569  |  IL6  |  CIPHER
7124  |  TNF  |  CIPHER
7421  |  VDR  |  CIPHER
1493  |  CTLA4  |  CIPHER;CTD_human
3126  |  HLA-DRB4  |  CIPHER
7038  |  TG  |  CIPHER;CTD_human
115352  |  FCRL3  |  CTD_human
716  |  C1S  |  CTD_human
7253  |  TSHR  |  CTD_human
140805  |  HT  |  CTD_human
387579  |  AITD2  |  CTD_human
387578  |  AITD1  |  CTD_human
387581  |  AITD4  |  CTD_human
57623  |  ZFAT  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:134)
58  |  ACTA1  |  1.132  |  DISEASES
164  |  AP1G1  |  1.235  |  DISEASES
54828  |  BCAS3  |  1.279  |  DISEASES
440603  |  BCL2L15  |  1.774  |  DISEASES
65980  |  BRD9  |  1.415  |  DISEASES
721  |  C4B  |  1.185  |  DISEASES
796  |  CALCA  |  3.757  |  DISEASES
844  |  CASQ1  |  3.446  |  DISEASES
1235  |  CCR6  |  1.047  |  DISEASES
930  |  CD19  |  2.239  |  DISEASES
917  |  CD3G  |  1.521  |  DISEASES
958  |  CD40  |  3.288  |  DISEASES
959  |  CD40LG  |  3.453  |  DISEASES
921  |  CD5  |  2.504  |  DISEASES
965  |  CD58  |  1.039  |  DISEASES
942  |  CD86  |  1.313  |  DISEASES
1041  |  CDSN  |  1.912  |  DISEASES
23274  |  CLEC16A  |  1.261  |  DISEASES
441521  |  CT45A5  |  3.465  |  DISEASES
4283  |  CXCL9  |  2.944  |  DISEASES
2833  |  CXCR3  |  2.6  |  DISEASES
51428  |  DDX41  |  4.124  |  DISEASES
1734  |  DIO2  |  1.937  |  DISEASES
135656  |  DPCR1  |  1.259  |  DISEASES
50506  |  DUOX2  |  1.094  |  DISEASES
6993  |  DYNLT1  |  1.691  |  DISEASES
116496  |  FAM129A  |  1.295  |  DISEASES
355  |  FAS  |  1.612  |  DISEASES
356  |  FASLG  |  3.904  |  DISEASES
2214  |  FCGR3A  |  1.549  |  DISEASES
115350  |  FCRL1  |  1.843  |  DISEASES
115352  |  FCRL3  |  2.221  |  DISEASES
84824  |  FCRLA  |  1.106  |  DISEASES
2316  |  FLNA  |  1.225  |  DISEASES
2317  |  FLNB  |  2.794  |  DISEASES
27022  |  FOXD3  |  1.076  |  DISEASES
2304  |  FOXE1  |  1.946  |  DISEASES
50943  |  FOXP3  |  3.581  |  DISEASES
2520  |  GAST  |  1.782  |  DISEASES
2638  |  GC  |  1.977  |  DISEASES
51738  |  GHRL  |  1.504  |  DISEASES
2878  |  GPX3  |  1.225  |  DISEASES
51696  |  HECA  |  2.111  |  DISEASES
8346  |  HIST1H2BI  |  1.24  |  DISEASES
8337  |  HIST2H2AA3  |  2.963  |  DISEASES
317772  |  HIST2H2AB  |  3.289  |  DISEASES
8338  |  HIST2H2AC  |  2.963  |  DISEASES
8349  |  HIST2H2BE  |  2.051  |  DISEASES
3105  |  HLA-A  |  2.928  |  DISEASES
3115  |  HLA-DPB1  |  2.127  |  DISEASES
3117  |  HLA-DQA1  |  3.165  |  DISEASES
3118  |  HLA-DQA2  |  1.735  |  DISEASES
3119  |  HLA-DQB1  |  2.173  |  DISEASES
3120  |  HLA-DQB2  |  1.404  |  DISEASES
3122  |  HLA-DRA  |  2.079  |  DISEASES
3123  |  HLA-DRB1  |  2.487  |  DISEASES
3127  |  HLA-DRB5  |  1.208  |  DISEASES
3305  |  HSPA1L  |  1.559  |  DISEASES
3339  |  HSPG2  |  1.794  |  DISEASES
3384  |  ICAM2  |  1.099  |  DISEASES
3456  |  IFNB1  |  1.656  |  DISEASES
100885789  |  IFNG-AS1  |  2.466  |  DISEASES
3586  |  IL10  |  3.369  |  DISEASES
3605  |  IL17A  |  2.715  |  DISEASES
3559  |  IL2RA  |  3.051  |  DISEASES
3570  |  IL6R  |  1.08  |  DISEASES
3683  |  ITGAL  |  1.21  |  DISEASES
3684  |  ITGAM  |  1.356  |  DISEASES
3880  |  KRT19  |  2.873  |  DISEASES
3898  |  LAD1  |  1.739  |  DISEASES
79168  |  LILRA6  |  1.576  |  DISEASES
348120  |  LINC01193  |  3.446  |  DISEASES
4049  |  LTA  |  2.18  |  DISEASES
4311  |  MME  |  1.031  |  DISEASES
143662  |  MUC15  |  2.174  |  DISEASES
4593  |  MUSK  |  1.664  |  DISEASES
83463  |  MXD3  |  1.444  |  DISEASES
10004  |  NAALADL1  |  1.482  |  DISEASES
8031  |  NCOA4  |  3.667  |  DISEASES
7080  |  NKX2-1  |  1.707  |  DISEASES
170685  |  NUDT10  |  2.522  |  DISEASES
4942  |  OAT  |  1.692  |  DISEASES
5125  |  PCSK5  |  1.201  |  DISEASES
10745  |  PHTF1  |  1.734  |  DISEASES
8301  |  PICALM  |  3.587  |  DISEASES
5406  |  PNLIP  |  1.252  |  DISEASES
5646  |  PRSS3  |  6.41  |  DISEASES
11168  |  PSIP1  |  1.711  |  DISEASES
5696  |  PSMB8  |  1.468  |  DISEASES
5698  |  PSMB9  |  1.323  |  DISEASES
5727  |  PTCH1  |  2.893  |  DISEASES
5728  |  PTEN  |  1.355  |  DISEASES
5783  |  PTPN13  |  1.236  |  DISEASES
26191  |  PTPN22  |  4.458  |  DISEASES
5788  |  PTPRC  |  1.65  |  DISEASES
84109  |  QRFPR  |  1.964  |  DISEASES
5979  |  RET  |  3.644  |  DISEASES
6023  |  RMRP  |  1.43  |  DISEASES
8635  |  RNASET2  |  1.184  |  DISEASES
6279  |  S100A8  |  1.42  |  DISEASES
80274  |  SCUBE1  |  1.274  |  DISEASES
51150  |  SDF4  |  2.489  |  DISEASES
10500  |  SEMA6C  |  1.051  |  DISEASES
866  |  SERPINA6  |  1.839  |  DISEASES
6906  |  SERPINA7  |  2.623  |  DISEASES
55532  |  SLC30A10  |  2.256  |  DISEASES
169026  |  SLC30A8  |  1.979  |  DISEASES
153201  |  SLC36A2  |  1.268  |  DISEASES
64094  |  SMOC2  |  1.207  |  DISEASES
23583  |  SMUG1  |  1.827  |  DISEASES
26812  |  SNORD37  |  1.756  |  DISEASES
26807  |  SNORD43  |  1.404  |  DISEASES
692076  |  SNORD7  |  1.58  |  DISEASES
26770  |  SNORD79  |  1.741  |  DISEASES
692225  |  SNORD94  |  2.519  |  DISEASES
6693  |  SPN  |  2.047  |  DISEASES
6430  |  SRSF5  |  1.876  |  DISEASES
6775  |  STAT4  |  1.031  |  DISEASES
3703  |  STT3A  |  1.206  |  DISEASES
27004  |  TCL6  |  1.763  |  DISEASES
7052  |  TGM2  |  2.952  |  DISEASES
7068  |  THRB  |  1.841  |  DISEASES
7124  |  TNF  |  3.347  |  DISEASES
8784  |  TNFRSF18  |  1.692  |  DISEASES
8718  |  TNFRSF25  |  4.525  |  DISEASES
7293  |  TNFRSF4  |  1.07  |  DISEASES
10673  |  TNFSF13B  |  1.589  |  DISEASES
1861  |  TOR1A  |  2.542  |  DISEASES
10587  |  TXNRD2  |  2.387  |  DISEASES
7306  |  TYRP1  |  1.063  |  DISEASES
7421  |  VDR  |  2.722  |  DISEASES
8875  |  VNN2  |  1.404  |  DISEASES
57623  |  ZFAT  |  2.426  |  DISEASES
162239  |  ZFP1  |  1.139  |  DISEASES
Locus(Waiting for update.)
Disease ID 66
Disease autoimmune thyroiditis
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:2)
HP:0030057  |  Autoimmune antibody positivity
HP:0000872  |  Hashimoto's thyroiditis
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:85)
HP:0000821  |  Underactive thyroid  |  50
HP:0001298  |  Encephalopathy  |  28
HP:0002890  |  Thyroid carcinoma  |  27
HP:0030731  |  Carcinoma  |  24
HP:0002895  |  Papillary thyroid carcinoma  |  21
HP:0002665  |  Lymphoma  |  10
HP:0002960  |  Autoimmune condition  |  8
HP:0000832  |  Primary hypothyroidism  |  8
HP:0000819  |  Diabetes mellitus  |  8
HP:0000836  |  Overactive thyroid  |  5
HP:0012115  |  Liver inflammation  |  5
HP:0100778  |  Cryoglobulinemia  |  5
HP:0005263  |  Gastritis  |  4
HP:0000853  |  Goitre  |  4
HP:0100646  |  Thyroiditis  |  4
HP:0002608  |  Celiac disease  |  3
HP:0002664  |  Neoplasia  |  3
HP:0001045  |  Blotchy loss of skin color  |  3
HP:0000147  |  Sclerocystic ovaries  |  3
HP:0100028  |  Abnormal thryoid location  |  2
HP:0008207  |  Addison's disease  |  2
HP:0001903  |  Anemia  |  2
HP:0000820  |  Thyroid abnormality  |  2
HP:0002865  |  Medullary thyroid carcinoma  |  2
HP:0012190  |  T cell lymphoma  |  2
HP:0000554  |  Uveitis  |  2
HP:0200123  |  Chronic liver inflammation  |  2
HP:0000846  |  Hypoadrenalism  |  2
HP:0002835  |  Aspiration  |  2
HP:0001025  |  Hives  |  2
HP:0002229  |  Alopecia areata  |  2
HP:0002716  |  Lymph node hyperplasia  |  2
HP:0002897  |  Parathyroid adenoma  |  1
HP:0008209  |  Premature ovarian failure  |  1
HP:0010628  |  Facial palsy, unilateral or bilateral  |  1
HP:0000854  |  Thyroid adenoma  |  1
HP:0001596  |  Hair loss  |  1
HP:0003201  |  Rhabdomyolysis  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0200040  |  Epidermal inclusion cyst  |  1
HP:0000716  |  Depression  |  1
HP:0000739  |  Anxiety  |  1
HP:0030833  |  Neck pain  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0002133  |  Status epilepticus  |  1
HP:0000602  |  Ophthalmoplegia  |  1
HP:0001009  |  Telangiectases  |  1
HP:0200028  |  Pretibial myxedema  |  1
HP:0001067  |  Neurofibromas  |  1
HP:0002930  |  Resistance to thyroid hormone  |  1
HP:0003198  |  Myopathic changes  |  1
HP:0001369  |  Arthritis  |  1
HP:0100324  |  Progressive systemic scleroderma  |  1
HP:0003002  |  Breast carcinoma  |  1
HP:0001698  |  Pericardial effusions  |  1
HP:0000872  |  Hashimoto's thyroiditis  |  1
HP:0040154  |  Hidradenitis suppurativa  |  1
HP:0000793  |  Membranoproliferative glomerulonephritis  |  1
HP:0000852  |  Pseudohypoparathyroidism  |  1
HP:0000099  |  Glomerular nephritis  |  1
HP:0100029  |  Lingual thyroid  |  1
HP:0004789  |  Lactose intolerance  |  1
HP:0003493  |  Elevated antinuclear antibody  |  1
HP:0000870  |  Hyperprolactinemia  |  1
HP:0011780  |  Thyroid hemiagenesis  |  1
HP:0000112  |  Nephropathy  |  1
HP:0012578  |  Membranous glomerulonephritis  |  1
HP:0002072  |  Chorea  |  1
HP:0001251  |  Ataxia  |  1
HP:0002383  |  Encephalitis  |  1
HP:0001409  |  Portal hypertension  |  1
HP:0002415  |  Degeneration of white matter of brain  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0012531  |  Pain  |  1
HP:0000544  |  CPEO  |  1
HP:0000824  |  Growth hormone deficiency  |  1
HP:0005202  |  Helicobacter pylori infection  |  1
HP:0011748  |  Adrenocorticotropic hormone deficiency  |  1
HP:0001919  |  Acute renal failure  |  1
HP:0100315  |  Lewy bodies  |  1
HP:0006846  |  Acute encephalopathy  |  1
HP:0002196  |  Myelopathy  |  1
HP:0200058  |  Angiosarcoma  |  1
HP:0030357  |  Small cell lung carcinoma  |  1
HP:0001638  |  Cardiomyopathy  |  1
Disease ID 66
Disease autoimmune thyroiditis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:33)
C2186740  |  urticaria
C2062356  |  idiopathic portal hypertension
C1963101  |  encephalopathy
C1527336  |  sjogren's disease
C0700502  |  primary hypothyroidism
C0549473  |  thyroid cancer
C0348024  |  thyroid dysfunction
C0342122  |  diffuse toxic goiter
C0271795  |  transient hypothyroidism
C0271791  |  severe hypothyroidism
C0271790  |  subclinical hypothyroidism
C0264005  |  eosinophilic fasciitis
C0262548  |  maternal hypothyroidism
C0238463  |  papillary thyroid carcinoma
C0220847  |  hepatitis c
C0085655  |  polymyositis
C0040156  |  thyrotoxicosis
C0040137  |  thyroid nodules
C0039263  |  takayasu's disease
C0039263  |  takayasu's arteritis
C0036421  |  systemic sclerosis
C0029401  |  paget's disease of bone
C0021053  |  immune disorders
C0020676  |  hypothyroidism
C0020555  |  hypertrichosis
C0020550  |  hyperthyroidism
C0020097  |  htlv-i infection
C0017662  |  membranoproliferative glomerulonephritis
C0013080  |  trisomy 21
C0011860  |  diabetes
C0011854  |  insulin-dependent diabetes mellitus
C0007570  |  coeliac disease
C0007570  |  celiac disease
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:43)
C0020676  |  hypothyroidism  |  48
C0085584  |  encephalopathy  |  27
C0549473  |  thyroid carcinoma  |  20
C0238463  |  papillary thyroid carcinoma  |  16
C0271790  |  subclinical hypothyroidism  |  12
C0040137  |  thyroid nodules  |  11
C0011847  |  diabetes  |  11
C0007115  |  thyroid cancer  |  9
C0700502  |  primary hypothyroidism  |  8
C0020676  |  hypothyroid  |  6
C0007133  |  papillary carcinoma  |  5
C0024299  |  lymphoma  |  5
C0009450  |  infection  |  4
C1336753  |  lymphoma of the thyroid  |  4
C0271791  |  severe hypothyroidism  |  3
C0007570  |  celiac disease  |  3
C0019196  |  hepatitis c  |  3
C0042109  |  urticaria  |  2
C0040137  |  thyroid nodule  |  2
C0018021  |  goiter  |  2
C0022658  |  nephropathy  |  1
C0024228  |  lymphadenopathy  |  1
C0850666  |  helicobacter pylori infection  |  1
C0086776  |  parvovirus  |  1
C0011854  |  insulin-dependent diabetes mellitus  |  1
C0017662  |  membranoproliferative glomerulonephritis  |  1
C0021053  |  immune disorder  |  1
C0339143  |  thyroid-associated ophthalmopathy  |  1
C0013338  |  growth hormone deficiency  |  1
C0037928  |  myelopathy  |  1
C0006142  |  breast cancer  |  1
C0029089  |  ophthalmoplegia  |  1
C0348024  |  thyroid dysfunction  |  1
C0036421  |  systemic sclerosis  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0003873  |  rheumatoid arthritis  |  1
C0079772  |  t-cell lymphoma  |  1
C0020514  |  hyperprolactinemia  |  1
C0241910  |  autoimmune hepatitis  |  1
C0206138  |  crest syndrome  |  1
C0020550  |  hyperthyroidism  |  1
C0085273  |  parvovirus b19 infection  |  1
C0001430  |  adenoma  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:17)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1042031255872054547MTTPumls:C0677607BeFreeWe analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients.0.0002714422014APOB221002881CT,A
rs11348802219014278673BRAFumls:C0677607BeFreeClinical and pathological features and the BRAF(V600E) mutation in patients with papillary thyroid carcinoma with and without concurrent Hashimoto thyroiditis.0.0090011892009BRAF7140753336AT,G,C
rs11348802224721322673BRAFumls:C0677607BeFreeWe analyzed the correlation between the presence/absence of the BRAF(V600E) mutation in the fine-needle aspiration (FNA) and the clinical-pathological features: age, gender, extension of surgery, node dissection, rate of cervical lymph node involvement, tumor size, TNM stage, variant of histotype, mono/plurifocality, association with lymphocitary chronic thyroiditis, radioactive iodine ablation doses, and outcome.0.0090011892014BRAF7140753336AT,G,C
rs11348802218426810673BRAFumls:C0677607BeFreeScreening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis.0.0090011892008BRAF7140753336AT,G,C
rs11348802218426810673BRAFumls:C0920350BeFreeScreening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis.0.0005428842008BRAF7140753336AT,G,C
rs1799883255872054547MTTPumls:C0677607BeFreeWe analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients.0.0002714422014FABP24119320747TG,C,A
rs1800588255872054547MTTPumls:C0677607BeFreeWe analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients.0.0002714422014LIPC;LOC1027247661558431476CT
rs1800591255872054547MTTPumls:C0677607BeFreeWe analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients.0.0002714422014MTTP499574331GT
rs231775215036161493CTLA4umls:C0677607BeFreeCTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and Hashimoto thyroiditis-results and the review of the literature.0.1491811522011CTLA42203867991AG,T
rs24766012043878726191PTPN22umls:C0920350BeFreeTo evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabetes patients with or without autoimmune thyroiditis.0.007643982010PTPN22;AP4B1-AS11113834946AG
rs24766012043878726191PTPN22umls:C0677607BeFreeTo evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabetes patients with or without autoimmune thyroiditis.0.0052769482010PTPN22;AP4B1-AS11113834946AG
rs3087243246973611493CTLA4umls:C0677607BeFreeTaken together, our study suggested that the CT60 polymorphism (rs3087243) in CTLA-4 gene might confer susceptibility to the AITDs (GD/HT).0.1491811522015CTLA42203874196GA
rs308724324697361348120LINC01193umls:C0677607BeFreeTaken together, our study suggested that the CT60 polymorphism (rs3087243) in CTLA-4 gene might confer susceptibility to the AITDs (GD/HT).0.0008143262015CTLA42203874196GA
rs3135506255872054547MTTPumls:C0677607BeFreeWe analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients.0.0002714422014APOA511116791691GA,C
rs328255872054547MTTPumls:C0677607BeFreeWe analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients.0.0002714422014LPL819962213CG
rs3792876263294036583SLC22A4umls:C0677607BeFreeThe aim of this study is to investigate whether SNP rs3792876 in the SLC22A4 gene is associated with GD, HT and AITD in a Chinese Han population.0.0002714422015SLC22A45132301616CT
rs5925255872054547MTTPumls:C0677607BeFreeWe analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients.0.0002714422014LDLR1911120205TC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0000872Hashimoto thyroiditisMP: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
Disease ID 66
Disease autoimmune thyroiditis
Case(Waiting for update.)