Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 75 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | C1S CL E G H | 716 | 1247 | OMIM:613783 | Complement component c1s deficiency | | | | 7 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | | | | 102 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:140300 | Hashimoto thyroiditis | | | | 10 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | FOXD3 CL E G H | 27022 | 3804 | OMIM:607836 | Autoimmune disease, susceptibility to, 1 | | | | 1 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040282 - Frequent | | | 3 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 11 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | | | | 464 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | | | | 948 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | | | | 60 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040282 - Frequent | | | 110 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:618985 | GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2 | | | | 12 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | TG CL E G H | 7038 | 11764 | OMIM:608175 | Autoimmune thyroid disease, susceptibility to, 3 | . | | | 155 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 26 | | |
HP:0100646 | HP:0100646 | Thyroiditis | 0 | ZFAT CL E G H | 57623 | 19899 | OMIM:608175 | Autoimmune thyroid disease, susceptibility to, 3 | . | | | 2 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | C1S CL E G H | 716 | 1247 | OMIM:613783 | Complement component c1s deficiency | . | | | 7 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | | | | 102 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | CTLA4 CL E G H | 1493 | 2505 | OMIM:140300 | Hashimoto thyroiditis | . | | | 10 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040284 - Very rare | | | 94 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | FOXD3 CL E G H | 27022 | 3804 | OMIM:607836 | Autoimmune disease, susceptibility to, 1 | . | | | 1 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 11 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | . | | | 60 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0100646 | HP:0000872 | Hashimoto thyroiditis | 1 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 26 | | |