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:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040284 - Very rare | | | 245 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:618857 | DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3 | | | | 245 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | HP:0040284 - Very rare | | | 5 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | . | | | 2 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 5 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | . | | | 3 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | DUT CL E G H | 1854 | 3078 | OMIM:620044 | | | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 115 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 11 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | GCK CL E G H | 2645 | 4195 | OMIM:606176 | DIABETES MELLITUS, PERMANENT NEONATAL; PNDM | | | | 237 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:612520 | DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20 | | | | 161 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | INS CL E G H | 3630 | 6081 | OMIM:125852 | Diabetes mellitus, insulin-dependent, 2 | . | | | 62 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | INS CL E G H | 3630 | 6081 | OMIM:618858 | DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4 | | | | 62 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040284 - Very rare | | | 127 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:618856 | DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2 | | | | 127 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | NEUROG3 CL E G H | 50674 | 13806 | ORPHA:83620 | Enteric anendocrinosis | HP:0040282 - Frequent | | | 5 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 11 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | PSTPIP1 CL E G H | 9051 | 9580 | ORPHA:69126 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | HP:0040283 - Occasional | | | 96 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 2 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040284 - Very rare | | | 14 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040281 - Very frequent | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0100651 | HP:0100651 | Type I diabetes mellitus | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 26 | | |