Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | | | | 826 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69663 | Low phospholipid-associated cholelithiasis | HP:0040284 - Very rare | | | 111 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | | 245 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 245 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:618857 | DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3 | | | | 245 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:610374 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | | | | 245 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 245 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | | | | 245 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 245 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 85 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | | | | 175 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | | | | 95 | | |
HP:0000819 | HP:0000819 | 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:0000819 | HP:0000819 | Diabetes mellitus | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:79085 | AKT2-related familial partial lipodystrophy | | | | 12 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AKT2 CL E G H | 208 | 392 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 12 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | APOA5 CL E G H | 116519 | 17288 | OMIM:144650 | Hyperlipoproteinemia, type V | . | | | 7 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | HP:0040282 - Frequent | | | 39 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | APPL1 CL E G H | 26060 | 24035 | OMIM:616511 | Maturity-onset diabetes of the young, type 14 | . | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AR CL E G H | 367 | 644 | ORPHA:481 | Kennedy disease | | | | 125 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | | | | 6 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | | | | 29 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040282 - Frequent | | | 3267 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 169 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | | | | 114 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | | | | 97 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | | | | 182 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BLK CL E G H | 640 | 1057 | OMIM:613375 | Maturity-onset diabetes of the young, type 11 | . | | | 75 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | | | | 75 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 276 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 105 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | | | | 23 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CASR CL E G H | 846 | 1514 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 272 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 11 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:612526 | Lipodystrophy, congenital generalized, type 3 | | | | 11 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 636 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | | | | 147 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 289 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CEL CL E G H | 1056 | 1848 | OMIM:609812 | Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction | | | | 25 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | | | | 25 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CELA2A CL E G H | 63036 | 24609 | OMIM:618620 | ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4 | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CEP19 CL E G H | 84984 | 28209 | OMIM:615703 | Morbid obesity and spermatogenic failure | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | | | | 71 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 1371 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:167800 | Pancreatitis, hereditary | . | | | 1371 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | | | | 8 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | | | | 8 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CISD2 CL E G H | 493856 | 24212 | OMIM:604928 | Wolfram syndrome 2 | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | | | | 60 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | . | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | | | | 44 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | | | | 164 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | | | | 284 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040282 - Frequent | | | 115 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CPA1 CL E G H | 1357 | 2296 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | | | | 156 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | | | | 158 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CTRC CL E G H | 11330 | 2523 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 39 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CTRC CL E G H | 11330 | 2523 | OMIM:167800 | Pancreatitis, hereditary | . | | | 39 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CTRC CL E G H | 11330 | 2523 | ORPHA:103918 | Tropical pancreatitis | | | | 39 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | | | | 60 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | | | | 47 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0000819 | HP:0000819 | 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:0000819 | HP:0000819 | Diabetes mellitus | 0 | DNAJC3 CL E G H | 5611 | 9439 | ORPHA:445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DUT CL E G H | 1854 | 3078 | OMIM:620044 | | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | | | | 115 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | | | | 11 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ELMO2 CL E G H | 63916 | 17233 | ORPHA:3019 | Ramon syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 151 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | | | | 209 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | | | | 56 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2833 | Stiff skin syndrome | | | | 1361 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 172 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | | | | 11 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040283 - Occasional | | | 30 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 184 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | | | | 26 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040283 - Occasional | | | 18 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | . | | | 18 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | . | | | 37 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | | | | 37 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GCGR CL E G H | 2642 | 4192 | OMIM:619290 | MAHVASH DISEASE; MVAH | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GCK CL E G H | 2645 | 4195 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 237 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GCK CL E G H | 2645 | 4195 | OMIM:606176 | DIABETES MELLITUS, PERMANENT NEONATAL; PNDM | | | | 237 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GCK CL E G H | 2645 | 4195 | OMIM:602485 | Hyperinsulinemic hypoglycemia, familial, 3 | . | HP:0003584 - Late onset | | 237 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | | | | 237 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 237 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GCK CL E G H | 2645 | 4195 | OMIM:125851 | Maturity-onset diabetes of the young, type II | | | | 237 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | | | | 237 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 68 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2248 | Hypoplastic left heart syndrome | | | | 68 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 74 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 12 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | HP:0003623 - Neonatal onset | | 143 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GPD2 CL E G H | 2820 | 4456 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | | | | 36 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HAMP CL E G H | 57817 | 15598 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040282 - Frequent | | | 15 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040284 - Very rare | | | 580 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 21 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | | | | 86 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HJV CL E G H | 148738 | 4887 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:703 | Bullous pemphigoid | HP:0040281 - Very frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:703 | Bullous pemphigoid | HP:0040281 - Very frequent | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HMGA1 CL E G H | 3159 | 5010 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:612520 | DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20 | | | | 161 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 161 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 161 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:142330 | Hepatic adenomas, familial | | | | 161 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | | | | 161 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:600496 | Maturity-onset diabetes of the young, type III | | | | 161 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | | | | 161 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 90 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040282 - Frequent | | | 90 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 138 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | HP:0040283 - Occasional | | | 138 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:125850 | Maturity-onset diabetes of the young, type 1 | | | | 138 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | | | | 138 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HYMAI CL E G H | 57061 | 5326 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | | | | 30 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | . | | | 6 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | | | | 148 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IGF2BP2 CL E G H | 10644 | 28867 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:601942 | Diabetes mellitus, insulin-dependent, 10 | . | | | 65 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | | | | 52 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | | | | 4 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | | | | 120 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INS CL E G H | 3630 | 6081 | OMIM:125852 | Diabetes mellitus, insulin-dependent, 2 | . | | | 62 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INS CL E G H | 3630 | 6081 | OMIM:618858 | DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4 | | | | 62 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 62 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INS CL E G H | 3630 | 6081 | OMIM:613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | | | | 62 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | | | | 62 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:2297 | Insulin-resistance syndrome type A | | | | 229 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | | | | 229 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IRS1 CL E G H | 3667 | 6125 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IRS2 CL E G H | 8660 | 6126 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ITPR3 CL E G H | 3710 | 6182 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 127 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:618856 | DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2 | | | | 127 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:610582 | Diabetes mellitus, transient neonatal, 3 | | | | 127 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 127 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:616329 | Maturity-onset diabetes of the young, type 13 | | | | 127 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | | | | 127 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 127 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | | | | 11 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 4 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KLF11 CL E G H | 8462 | 11811 | OMIM:610508 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7 | | | | 78 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | | | | 78 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | | | | 42 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 196 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | HP:0040284 - Very rare | | | 46 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | | | | 88 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 35 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | | | | 7 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | . | | | 7 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMF1 CL E G H | 64788 | 14154 | OMIM:246650 | LIPASE DEFICIENCY, COMBINED | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040281 - Very frequent | | | 645 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79084 | Familial partial lipodystrophy, Köbberling type | HP:0040281 - Very frequent | | | 645 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | | | | 645 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:608709 | Lipodystrophy, partial, acquired, susceptibility to | . | | | 11 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | | | | 62 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LRP6 CL E G H | 4040 | 6698 | OMIM:610947 | Coronary artery disease, autosomal dominant 2 | . | | | 26 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | | | | 53 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MAPK8IP1 CL E G H | 9479 | 6882 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MC4R CL E G H | 4160 | 6932 | ORPHA:71529 | Obesity due to melanocortin 4 receptor deficiency | | | | 54 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | | | | 462 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | | | | 75 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:605231 | Bardet-Biedl syndrome 6 | . | | | 69 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 64 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MOG CL E G H | 4340 | 7197 | OMIM:614250 | Narcolepsy 7 | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | | | | 183 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | | | | 183 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MTNR1B CL E G H | 4544 | 7464 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 4 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 40 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 26 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 31 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 34 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 9 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 81 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 65 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 22 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 21 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 38 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 42 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NEUROD1 CL E G H | 4760 | 7762 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 32 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NEUROD1 CL E G H | 4760 | 7762 | OMIM:606394 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6 | | | | 32 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | | | | 32 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NEUROG3 CL E G H | 50674 | 13806 | ORPHA:83620 | Enteric anendocrinosis | | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:2248 | Hypoplastic left heart syndrome | | | | 90 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | | | | 58 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 79 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | | | | 30 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NSMCE2 CL E G H | 286053 | 26513 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | . | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | | | | 201 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040284 - Very rare | | | 214 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 41 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 1349 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 192 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:612227 | Diabetes mellitus, ketosis-prone | . | | | 55 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 55 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:612225 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9 | | | | 55 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | | | | 55 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PCBD1 CL E G H | 5092 | 8646 | ORPHA:1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | | | | 24 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 13 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | HP:0040283 - Occasional | | | 113 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040282 - Frequent | | | 113 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | | | | 116 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | | | | 126 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | | | | 18 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 75 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 30 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 30 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:606392 | Maturity-onset diabetes of the young, type 4 | | | | 30 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | | | | 30 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | . | HP:0003593 - Infantile onset | | 30 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | | | | 75 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 11 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | | | | 43 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PLCD1 CL E G H | 5333 | 9060 | ORPHA:2387 | Leukonychia totalis | | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PLIN1 CL E G H | 5346 | 9076 | OMIM:613877 | Lipodystrophy, familial partial, type 4 | . | | | 19 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | | | | 19 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | | | | 103 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | HP:0040283 - Occasional | | | 10 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | . | | | 731 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 464 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 45 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | | | | 180 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 42 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | | | | 42 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 42 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PPP1R3A CL E G H | 5506 | 9291 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 12 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | | | | 39 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040282 - Frequent | | | 134 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 134 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | HP:0040283 - Occasional | | | 9 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 34 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | | | | 110 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | | | | 28 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | | | | 70 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | | | | 51 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | | | | 94 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | | | | 159 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRSS1 CL E G H | 5644 | 9475 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 51 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRSS1 CL E G H | 5644 | 9475 | OMIM:167800 | Pancreatitis, hereditary | . | | | 51 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRSS2 CL E G H | 5645 | 9483 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRSS2 CL E G H | 5645 | 9483 | OMIM:167800 | Pancreatitis, hereditary | . | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PSTPIP1 CL E G H | 9051 | 9580 | ORPHA:69126 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | | | | 96 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | . | | | 22 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PTF1A CL E G H | 256297 | 23734 | ORPHA:65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | | | | 22 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PTPN1 CL E G H | 5770 | 9642 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040282 - Frequent | | | 6 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | HP:0040284 - Very rare | | | 6 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | | | | 108 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | | | | 45 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | | | | 5 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RETN CL E G H | 56729 | 20389 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | | | | 28 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | | | | 107 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | | | | 47 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | | | | 38 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | | | | 111 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | | | | 284 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | | | | 45 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | | | | 14 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | | | | 129 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | | | | 200 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 125 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | | | | 32 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC19A2 CL E G H | 10560 | 10938 | ORPHA:49827 | Thiamine-responsive megaloblastic anemia syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | . | | | 55 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 68 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 71 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC30A8 CL E G H | 169026 | 20303 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 3 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC40A1 CL E G H | 30061 | 10909 | OMIM:606069 | Hemochromatosis, type 4 | | | | 56 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | | | | 4 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 504 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | | | | 83 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 33 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 24 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 34 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SPINK1 CL E G H | 6690 | 11244 | OMIM:167800 | Pancreatitis, hereditary | . | | | 34 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SPINK1 CL E G H | 6690 | 11244 | OMIM:608189 | Tropical calcific pancreatitis | | | | 34 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:103918 | Tropical pancreatitis | | | | 34 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | HP:0040283 - Occasional | | | 89 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 110 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TCF7L2 CL E G H | 6934 | 11641 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 4 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | THRB CL E G H | 7068 | 11799 | OMIM:274300 | Thyroid hormone resistance, generalized, autosomal recessive | | | | 161 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | | | | 4 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | | | | 61 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 911 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 911 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRMT10A CL E G H | 93587 | 28403 | OMIM:616033 | Microcephaly, short stature, and impaired glucose metabolism 1 | | | | 7 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:225 | Maternally-inherited diabetes and deafness | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:225 | Maternally-inherited diabetes and deafness | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:225 | Maternally-inherited diabetes and deafness | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 26 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | | | | 41 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TTPA CL E G H | 7274 | 12404 | ORPHA:96 | Ataxia with vitamin E deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | | | | 66 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 113 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | HP:0040283 - Occasional | | | 113 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | UBR1 CL E G H | 197131 | 16808 | ORPHA:2315 | Johanson-Blizzard syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | | | | 777 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 1 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 7 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | | | | 2 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 389 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040281 - Very frequent | | | 389 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | . | | | 389 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | HP:0040281 - Very frequent | | | 389 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:614296 | Wolfram-Like syndrome, autosomal dominant | HP:0040283 - Occasional | | | 389 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | . | | | 310 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | | | | 9 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | | | | 9 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | YIPF5 CL E G H | 81555 | 24877 | OMIM:619278 | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2 | | | | | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZFP57 CL E G H | 346171 | 18791 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | | | | 30 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 30 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040283 - Occasional | | | 189 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | | | | 14 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | | | | 27 | | |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 826 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040284 - Very rare | | | 245 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 59 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 245 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 59 | OMIM:618857 | DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3 | | | | 245 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 59 | OMIM:610374 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | | | | 245 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 59 | OMIM:610374 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | | | | 245 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 245 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 245 | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | 245 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 245 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 245 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | 245 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 175 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 95 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | AKT2 CL E G H | 208 | 392 | ORPHA:79085 | AKT2-related familial partial lipodystrophy | HP:0040282 - Frequent | | | 12 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | AKT2 CL E G H | 208 | 392 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 12 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | HP:0040281 - Very frequent | | | 44 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | APPL1 CL E G H | 26060 | 24035 | OMIM:616511 | Maturity-onset diabetes of the young, type 14 | . | | | 2 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | AR CL E G H | 367 | 644 | ORPHA:481 | Kennedy disease | HP:0040283 - Occasional | | | 125 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 6 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 3 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 29 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040283 - Occasional | | | 3267 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 114 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 97 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 182 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | BLK CL E G H | 640 | 1057 | OMIM:613375 | Maturity-onset diabetes of the young, type 11 | . | | | 75 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 75 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040283 - Occasional | | | 276 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 23 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | HP:0040284 - Very rare | | | 5 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | HP:0040283 - Occasional | | | 5 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 147 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CEL CL E G H | 1056 | 1848 | OMIM:609812 | Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction | . | | | 25 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 25 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CELA2A CL E G H | 63036 | 24609 | OMIM:618620 | ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4 | | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CEP19 CL E G H | 84984 | 28209 | OMIM:615703 | Morbid obesity and spermatogenic failure | | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 71 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 8 | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | | | | 8 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 60 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 44 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 164 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | . | | | 2 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | | | | 2 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | HP:0040283 - Occasional | | | 284 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 5 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 156 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 158 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040283 - Occasional | | | 88 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CTRC CL E G H | 11330 | 2523 | ORPHA:103918 | Tropical pancreatitis | | | | 39 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CTRC CL E G H | 11330 | 2523 | ORPHA:103918 | Tropical pancreatitis | | | | 39 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 47 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | . | | | 3 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | DUT CL E G H | 1854 | 3078 | OMIM:620044 | | | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 115 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ENPP1 CL E G H | 5167 | 3356 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 151 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 209 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 56 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2833 | Stiff skin syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | HP:0040283 - Occasional | | | 5 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 172 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 11 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 26 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040281 - Very frequent | | | 3 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | | | | 37 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GCGR CL E G H | 2642 | 4192 | OMIM:619290 | MAHVASH DISEASE; MVAH | | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GCK CL E G H | 2645 | 4195 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 237 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GCK CL E G H | 2645 | 4195 | OMIM:606176 | DIABETES MELLITUS, PERMANENT NEONATAL; PNDM | | | | 237 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 237 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GCK CL E G H | 2645 | 4195 | OMIM:125851 | Maturity-onset diabetes of the young, type II | . | | | 237 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 237 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2248 | Hypoplastic left heart syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GPD2 CL E G H | 2820 | 4456 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 3 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 36 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 21 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 86 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HMGA1 CL E G H | 3159 | 5010 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HNF1A CL E G H | 6927 | 11621 | OMIM:612520 | DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20 | | | | 161 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HNF1A CL E G H | 6927 | 11621 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 161 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HNF1A CL E G H | 6927 | 11621 | OMIM:142330 | Hepatic adenomas, familial | . | | | 161 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040283 - Occasional | | | 161 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040282 - Frequent | | | 161 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HNF1A CL E G H | 6927 | 11621 | OMIM:600496 | Maturity-onset diabetes of the young, type III | . | | | 161 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HNF1A CL E G H | 6927 | 11621 | OMIM:600496 | Maturity-onset diabetes of the young, type III | . | | | 161 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 161 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HNF1B CL E G H | 6928 | 11630 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 90 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HNF4A CL E G H | 3172 | 5024 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 138 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HNF4A CL E G H | 3172 | 5024 | OMIM:125850 | Maturity-onset diabetes of the young, type 1 | . | | | 138 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 138 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HYMAI CL E G H | 57061 | 5326 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | | | | | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 30 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 148 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 48 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 3 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IGF2BP2 CL E G H | 10644 | 28867 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IL6 CL E G H | 3569 | 6018 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 2 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 52 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 4 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 120 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | INS CL E G H | 3630 | 6081 | OMIM:125852 | Diabetes mellitus, insulin-dependent, 2 | . | | | 62 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | INS CL E G H | 3630 | 6081 | OMIM:618858 | DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4 | | | | 62 | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | INS CL E G H | 3630 | 6081 | OMIM:618858 | DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4 | | | | 62 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 62 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | INS CL E G H | 3630 | 6081 | OMIM:613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | | | | 62 | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | INS CL E G H | 3630 | 6081 | OMIM:613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | | | | 62 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 62 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:2297 | Insulin-resistance syndrome type A | HP:0040281 - Very frequent | | | 229 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | . | | | 229 | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | . | | | 229 | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040282 - Frequent | | | 229 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IRS1 CL E G H | 3667 | 6125 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 5 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IRS2 CL E G H | 8660 | 6126 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 3 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040284 - Very rare | | | 127 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 127 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:618856 | DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2 | | | | 127 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:610582 | Diabetes mellitus, transient neonatal, 3 | | | | 127 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:610582 | Diabetes mellitus, transient neonatal, 3 | . | | | 127 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 127 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:616329 | Maturity-onset diabetes of the young, type 13 | . | | | 127 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:616329 | Maturity-onset diabetes of the young, type 13 | . | | | 127 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 127 | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | 127 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 127 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | 127 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 127 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 3 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | KLF11 CL E G H | 8462 | 11811 | OMIM:610508 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7 | | | | 78 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | KLF11 CL E G H | 8462 | 11811 | OMIM:610508 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7 | | | | 78 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 78 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 42 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040282 - Frequent | | | 47 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LIPC CL E G H | 3990 | 6619 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 35 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LMF1 CL E G H | 64788 | 14154 | OMIM:246650 | LIPASE DEFICIENCY, COMBINED | | | | 3 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | | | | 645 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 62 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LRP6 CL E G H | 4040 | 6698 | OMIM:610947 | Coronary artery disease, autosomal dominant 2 | | | | 26 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 53 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MAPK8IP1 CL E G H | 9479 | 6882 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MC4R CL E G H | 4160 | 6932 | ORPHA:71529 | Obesity due to melanocortin 4 receptor deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 462 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 75 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MOG CL E G H | 4340 | 7197 | OMIM:614250 | Narcolepsy 7 | . | | | 1 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MTNR1B CL E G H | 4544 | 7464 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 4 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 5 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | NEUROD1 CL E G H | 4760 | 7762 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 32 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | NEUROD1 CL E G H | 4760 | 7762 | OMIM:606394 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6 | | | | 32 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 32 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | NEUROG3 CL E G H | 50674 | 13806 | ORPHA:83620 | Enteric anendocrinosis | HP:0040282 - Frequent | | | 5 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:2248 | Hypoplastic left heart syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 58 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 30 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | NSMCE2 CL E G H | 286053 | 26513 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 201 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 41 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PAX4 CL E G H | 5078 | 8618 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 55 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PAX4 CL E G H | 5078 | 8618 | OMIM:612225 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9 | | | | 55 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 55 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PCBD1 CL E G H | 5092 | 8646 | ORPHA:1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | HP:0040284 - Very rare | | | 24 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 116 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 126 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 18 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 6107 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 30 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 30 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 6107 | OMIM:606392 | Maturity-onset diabetes of the young, type 4 | . | HP:0011462 - Young adult onset | | 30 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PDX1 CL E G H | 3651 | 6107 | OMIM:606392 | Maturity-onset diabetes of the young, type 4 | . | | | 30 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 30 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | | | | 30 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | HP:0040283 - Occasional | | | 75 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 11 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PLCD1 CL E G H | 5333 | 9060 | ORPHA:2387 | Leukonychia totalis | HP:0040283 - Occasional | | | 5 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PLIN1 CL E G H | 5346 | 9076 | OMIM:613877 | Lipodystrophy, familial partial, type 4 | | | | 19 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | | | | 19 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | HP:0040283 - Occasional | | | 103 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 180 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PPARG CL E G H | 5468 | 9236 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 42 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | | | | 42 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | . | | | 42 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | . | | | 42 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 42 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PPP1R3A CL E G H | 5506 | 9291 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 12 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 39 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 34 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 110 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 28 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 70 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 51 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 94 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 159 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PSTPIP1 CL E G H | 9051 | 9580 | ORPHA:69126 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | HP:0040283 - Occasional | | | 96 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PTF1A CL E G H | 256297 | 23734 | ORPHA:65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | | | | 22 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PTPN1 CL E G H | 5770 | 9642 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 108 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 45 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 5 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RETN CL E G H | 56729 | 20389 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 28 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 107 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 47 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 38 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 111 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 284 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 45 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 14 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 129 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 200 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 32 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 48 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 71 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SLC30A8 CL E G H | 169026 | 20303 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 3 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 4 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 83 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 33 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 24 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 48 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SPINK1 CL E G H | 6690 | 11244 | OMIM:608189 | Tropical calcific pancreatitis | | | | 34 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:103918 | Tropical pancreatitis | | | | 34 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:103918 | Tropical pancreatitis | | | | 34 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 110 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 2 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040284 - Very rare | | | 14 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040284 - Very rare | | | 14 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TCF7L2 CL E G H | 6934 | 11641 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 4 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | THRB CL E G H | 7068 | 11799 | OMIM:274300 | Thyroid hormone resistance, generalized, autosomal recessive | | | | 161 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 61 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040281 - Very frequent | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040281 - Very frequent | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040281 - Very frequent | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040281 - Very frequent | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 26 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 41 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 1 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 66 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 777 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040281 - Very frequent | | | 111 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 12762 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 389 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 12762 | OMIM:614296 | Wolfram-Like syndrome, autosomal dominant | | | | 389 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040282 - Frequent | | | 310 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ZFP57 CL E G H | 346171 | 18791 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | | | | 30 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 30 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | 30 | | |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | 30 | | |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 30 | | |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | . | | | 83 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 14 | | |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040283 - Occasional | | | 27 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ABCC8 CL E G H | 6833 | 59 | OMIM:610374 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | | | | 245 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 245 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | | | | 245 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 245 | | |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | | | | 2 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | | | | 75 | | |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | | | | 25 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CTRC CL E G H | 11330 | 2523 | ORPHA:103918 | Tropical pancreatitis | | | | 39 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 237 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | | | | 237 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | | | | 161 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | | | | 138 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HYMAI CL E G H | 57061 | 5326 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | | | | | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 62 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | | | | 62 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:610582 | Diabetes mellitus, transient neonatal, 3 | | | | 127 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 127 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | | | | 127 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 127 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | | | | 78 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | | | | 32 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | | | | 55 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 30 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | | | | 30 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | . | | | 30 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | HP:0040280 - Obligate | | | 19 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PTF1A CL E G H | 256297 | 23734 | ORPHA:65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SPINK1 CL E G H | 6690 | 11244 | OMIM:608189 | Tropical calcific pancreatitis | . | | | 34 | | |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:103918 | Tropical pancreatitis | | | | 34 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 110 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ZFP57 CL E G H | 346171 | 18791 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | | | | 30 | | |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 30 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ABCC8 CL E G H | 6833 | 59 | OMIM:610374 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | | | | 245 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 245 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 245 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 2 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 75 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 25 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 237 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 161 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 138 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HYMAI CL E G H | 57061 | 5326 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | . | | | | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 62 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:610582 | Diabetes mellitus, transient neonatal, 3 | . | | | 127 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 127 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 127 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 78 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 32 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 55 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 30 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ZFP57 CL E G H | 346171 | 18791 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | . | | | 30 | | |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 30 | | |