eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autoimmune hepatitis | ||||
| Disease ID | 412 |
|---|---|
| Disease | autoimmune hepatitis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:53) C2364133 | infection C2242585 | interstitial granulomatous dermatitis C2186532 | liver disease C1963266 | uveitis C1801950 | g syndrome C1623038 | cirrhosis C1619727 | decompensated cirrhosis C1512411 | hepatocellular carcinoma C1373218 | immunosuppression C1334258 | intrahepatic biliary papillomatosis C0940937 | precancerous lesions C0920350 | autoimmune thyroiditis C0919715 | lupus-like syndrome C0699893 | non-melanoma skin cancer C0566602 | primary sclerosing cholangitis C0553662 | juvenile idiopathic arthritis C0524910 | chronic hepatitis c C0473221 | cryoglobulinemic glomerulonephritis C0410000 | overlap syndrome C0400928 | subfulminant hepatic failure C0345907 | hepatic angiosarcoma C0343192 | microscopic polyarteritis nodosa C0342801 | thiopurine methyltransferase deficiency C0264511 | lymphocytic interstitial pneumonitis C0239946 | liver fibrosis C0239946 | hepatic fibrosis C0220847 | hepatitis c C0162557 | fulminant hepatic failure C0162557 | acute liver failure C0151449 | primary sjogren's syndrome C0149530 | congenital heart block C0086543 | cataracts C0085652 | pyoderma gangrenosum C0085278 | antiphospholipid antibody syndrome C0042769 | viral infections C0034155 | thrombotic thrombocytopenic purpura C0030327 | lupus erythematosus panniculitis C0027813 | neuritis C0027613 | giant cell hepatitis C0026272 | mixed connective tissue disease C0023890 | liver cirrhosis C0022660 | acute renal failure C0018213 | graves' disease C0017665 | membranous glomerulonephritis C0009782 | connective tissue disorders C0009782 | connective tissue diseases C0007570 | coeliac disease C0007570 | celiac disease C0007129 | merkel cell carcinoma C0006309 | brucellosis C0004364 | autoimmune disorders C0004364 | autoimmune diseases C0002880 | autoimmune hemolytic anemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:23) C0023890 | cirrhosis | 8 C0410000 | overlap syndrome | 8 C0009450 | infection | 7 C0019204 | hepatocellular carcinoma | 6 C0007570 | celiac disease | 5 C0021079 | immunosuppression | 3 C0023890 | liver cirrhosis | 3 C0004364 | autoimmune diseases | 2 C0239946 | liver fibrosis | 2 C0566602 | primary sclerosing cholangitis | 2 C0239946 | hepatic fibrosis | 2 C0018213 | graves' disease | 2 C0019196 | hepatitis c | 2 C0002880 | autoimmune hemolytic anemia | 1 C0920350 | autoimmune thyroiditis | 1 C0151449 | primary sjogren's syndrome | 1 C0162557 | acute liver failure | 1 C0023895 | liver disease | 1 C0042164 | uveitis | 1 C0162557 | fulminant hepatic failure | 1 C0085652 | pyoderma gangrenosum | 1 C0017665 | membranous glomerulonephritis | 1 C0026272 | mixed connective tissue disease | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434254 | 11343230 | 5132 | PDC | umls:C0241910 | BeFree | Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with AIH type 1 carried a R257X mutation, and a patient with AIH type 2, diabetes mellitus type 1 (IDDM), thyroid disease, and atrophic gastritis carried a G305S mutation in the first PHD ring finger domain of the AIRE protein. | 0.000271442 | 2001 | AIRE | 21 | 44289773 | C | A,T |
| rs3184504 | 24768677 | 10019 | SH2B3 | umls:C0241910 | BeFree | We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)). | 0.000271442 | 2014 | SH2B3 | 12 | 111446804 | T | C |
| rs6000782 | 24768677 | 10019 | SH2B3 | umls:C0241910 | BeFree | We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)). | 0.000271442 | 2014 | NA | 22 | 37532179 | A | C |
| rs9266193 | 23551963 | 3106 | HLA-B | umls:C0241910 | BeFree | Cytotoxic T lymphocyte antigen-4 +49A/G polymorphism does not affect susceptibility to autoimmune hepatitis. | 0.013006804 | 2013 | HLA-B;MIR6891;LOC105375016 | 6 | 31357011 | T | A,C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:4) | |||||||||||||||||||||||||||||
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| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 4 | 107769255 | rs11943338 | A | G | rs11943338 | 24768677 | 4.30E-04 | NA | 1.5 | [1.20-1.70] | 649 European ancestry cases; 13,436 European ancestry controls | European(14085) | ALL(14085) | EUR(14085) | ALL(14085) | Autoimmune hepatitis type-1 | HPOID:0012115 | Hepatitis | DOID:2048 | autoimmune hepatitis | NA | NA | NA | NA | NA | NA | Multicenter Study | Research Support, Non-U.S. Gov't | A |
| 6 | 32605884 | rs2187668 | C | T | rs2187668 | 24768677 | 2.00E-78 | NA | 2.9 | [2.60-3.40] | 649 European ancestry cases; 13,436 European ancestry controls | European(14085) | ALL(14085) | EUR(14085) | ALL(14085) | Autoimmune hepatitis type-1 | HPOID:0012115 | Hepatitis | DOID:2048 | autoimmune hepatitis | NA | NA | NA | NA | NA | NA | Multicenter Study | Research Support, Non-U.S. Gov't | G |
| 12 | 111884608 | rs3184504 | T | C | rs3184504 | 24768677 | 8.00E-08 | NA | 1.4 | [1.20-1.60] | 649 European ancestry cases; 13,436 European ancestry controls | European(14085) | ALL(14085) | EUR(14085) | ALL(14085) | Autoimmune hepatitis type-1 | HPOID:0012115 | Hepatitis | DOID:2048 | autoimmune hepatitis | NA | NA | NA | NA | NA | NA | Multicenter Study | Research Support, Non-U.S. Gov't | C |
| 22 | 37928186 | rs6000782 | A | C | rs6000782 | 24768677 | 3.00E-06 | NA | 1.7 | [1.40-2.10] | 649 European ancestry cases; 13,436 European ancestry controls | European(14085) | ALL(14085) | EUR(14085) | ALL(14085) | Autoimmune hepatitis type-1 | HPOID:0012115 | Hepatitis | DOID:2048 | autoimmune hepatitis | NA | NA | NA | NA | NA | NA | Multicenter Study | Research Support, Non-U.S. Gov't | C |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 412 |
|---|---|
| Disease | autoimmune hepatitis |
| Case | (Waiting for update.) |