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:0040216 | HP:0040216 | Hypoinsulinemia | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 245 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 245 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 2 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 75 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 25 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 237 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 161 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 138 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040281 - Very frequent | | | | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 62 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 127 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 127 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 78 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 32 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 55 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 30 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040281 - Very frequent | | | | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | 1 | | |
HP:0040216 | HP:0040216 | Hypoinsulinemia | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 30 | | |