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:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | HP:0040281 - Very frequent | | | 237 | | |
HP:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040281 - Very frequent | | | 41 | | |
HP:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | . | | | 229 | | |
HP:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:263458 | Hyperinsulinism due to INSR deficiency | HP:0040281 - Very frequent | | | 229 | | |
HP:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040282 - Frequent | | | 229 | | |
HP:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | PAPPA2 CL E G H | 60676 | 14615 | OMIM:619489 | SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA | | | | 2 | | |
HP:0008283 | HP:0008283 | Fasting hyperinsulinemia | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 7 | | |