ALG5

ALG5 dolichyl-phosphate beta-glucosyltransferase

2 disorders 1 untyped 1 causative 13q13.3 gene with protein product

HGNC:20266 Monarch NCBI Gene 29880 ENSG00000120697 UniProt Q9Y673 OMIM 604565

Aliases: bA421P11.2.

Normal function · from ai-gene-review (Q9Y673, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.

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
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 ALG5 dolichyl-phosphate glucosyltransferase activity subtype: PKD7

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
autosomal dominant polycystic kidney disease MONDO:0004691	AD	Moderate 2023-03-22	Autosomal Dominant Polycystic Kidney Disease untyped Polycystic Kidney Disease causative

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