In the knowledge base · computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere the gene appears
Early-Infantile Developmental and Epileptic Encephalopathy causative de novo
GNAO1-Related Developmental and Epileptic Encephalopathy causative de novogermline loss of function
mechanism: GNAO1 Pathogenic Variant (Gao)
subtype: DEE17; NEDIM
dataset: geo:GSE241258; geo:GSE263736
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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 diseaseMOIClassificationdismech entry
movement disorder MONDO:0005395 AD Definitive
2019-02-19
no dismech entry
genetic developmental and epileptic encephalopathy MONDO:0100062 AD Definitive
2018-12-18

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.