Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 245 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | APPL1 CL E G H | 26060 | 24035 | OMIM:616511 | Maturity-onset diabetes of the young, type 14 | . | | | 2 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | BLK CL E G H | 640 | 1057 | OMIM:613375 | Maturity-onset diabetes of the young, type 11 | . | | | 75 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | CEL CL E G H | 1056 | 1848 | OMIM:609812 | Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction | . | | | 25 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | GCK CL E G H | 2645 | 4195 | OMIM:125851 | Maturity-onset diabetes of the young, type II | . | | | 237 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:142330 | Hepatic adenomas, familial | . | | | 161 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040282 - Frequent | | | 161 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:600496 | Maturity-onset diabetes of the young, type III | . | | | 161 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:125850 | Maturity-onset diabetes of the young, type 1 | . | | | 138 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | INS CL E G H | 3630 | 6081 | OMIM:613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | | | | 62 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:616329 | Maturity-onset diabetes of the young, type 13 | . | | | 127 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 127 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | KLF11 CL E G H | 8462 | 11811 | OMIM:610508 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7 | | | | 78 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | NEUROD1 CL E G H | 4760 | 7762 | OMIM:606394 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6 | | | | 32 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:612225 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9 | | | | 55 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | PCBD1 CL E G H | 5092 | 8646 | ORPHA:1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | HP:0040284 - Very rare | | | 24 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:606392 | Maturity-onset diabetes of the young, type 4 | . | | | 30 | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | | | |
HP:0004904 | HP:0004904 | Maturity-onset diabetes of the young | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 30 | | |