Aliases: CD220.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Rabson-Mendenhall Syndrome | causative germline loss of function |
mechanism: Biallelic INSR Loss-of-Function
|
| Polycystic Ovary Syndrome |
untyped
Risk Factor
|
mechanism: Population-Specific Metabolic vs. Inflammatory Dysregulation
|
| Major Depressive Disorder | no genetic record |
animal model: daf-2 insulin-receptor loss-of-function immobility C. elegans
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Donohue syndrome MONDO:0009517 | AR | Definitive 2026-04-08 |
no dismech entry |
| insulin-resistance syndrome type A MONDO:0012520 | AD | Definitive 2026-06-19 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.