Aliases: hGH, GH-N, GHN, GH, hGH-N.
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 |
|---|---|---|
| Isolated Growth Hormone Deficiency | causative germline dominant negativeloss of function |
mechanism: GH1 Intron-3 Splice-Site or Splicing-Enhancer Variant; GHRHR or GH1 Partial Loss-of-Function Variant
subtype: Type IA; Type IB; Type II
|
| Isolated Growth Hormone Deficiency Type IA | causative |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.