Curated summary · agent-written · kb/genes/curated/hgnc_11021.md

All 14 claims checked against the KB draft

SLC35A1 across dismech

SLC35A1 (solute carrier family 35 member A1) is named by 1 disorder entry.

Normal function

ai-gene-review gives SLC35A1's core molecular functions as CMP-N-acetylneuraminate transmembrane transporter activity; and antiporter activity: it imports CMP-sialic acid into the Golgi lumen in exchange for CMP, acting in CMP-N-acetylneuraminate transmembrane transport at the Golgi membrane.

Causative record

The one entry naming SLC35A1 types it as causative, SLC35A1-Congenital Disorder of Glycosylation, with germline variants (SLC35A1-Congenital Disorder of Glycosylation) whose functional impact is recorded as loss of function. ClinGen rates the relationship moderate. The gene sits on the node SLC35A1 Transporter Loss of Function.

Where the layers agree and disagree

ClinGen classifies SLC35A1 for 1 disease. The node naming SLC35A1 carries 0 process terms, so the KB and ai-gene-review share 0 GO process terms on it; the loss of sialylation is recorded on downstream nodes.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (P78382, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; 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
SLC35A1-Congenital Disorder of Glycosylation	causative germline loss of function CLINGEN: moderate	mechanism: SLC35A1 Transporter 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
SLC35A1-congenital disorder of glycosylation MONDO:0011342	AR	Moderate 2025-11-17	SLC35A1-Congenital Disorder of Glycosylation causative