GANAB - dismech genes

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.

Disorder	Relationship	Where the gene appears
Autosomal dominant polycystic liver disease	causative germline	mechanism: Impaired ER protein biogenesis
Polycystic Kidney Disease	causative	mechanism: Defective Polycystin-1 Maturation in the Endoplasmic Reticulum subtype: Autosomal Dominant PKD (ADPKD) scoped to subtype: Autosomal Dominant PKD (ADPKD)
Autosomal Dominant Polycystic Kidney Disease	untyped CAUSATIVE	mechanism: Reduced GANAB glucosidase II activity
Polycystic Kidney Disease 3	untyped CAUSATIVE germline loss of function	mechanism: GANAB Loss of Function

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 disease	MOI	Classification	dismech entry
polycystic kidney disease 3 with or without polycystic liver disease MONDO:0010916	AD	Definitive 2020-09-09	Polycystic Kidney Disease 3 untyped

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