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
Isolated Anophthalmia-Microphthalmia Syndrome causative
mechanism: Retinoic Acid Signalling Deficiency
subtype: MCOP8
scoped to subtype: MCOP8
Microphthalmia with Coloboma untyped
Causal biallelic variant
mechanism: Disrupted optic-cup and globe morphogenesis
subtype: ALDH1A3-MAC
scoped to subtype: ALDH1A3-MAC
Mechanism modules · computed from kb/

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