Genopathy
Gene-Disorder Association · Article
Gene
SLC35D1
Solute Carrier Family 35 Member D1
Disorder
Congenital Disorder Of Glycosylation, Type Ik
First reported 1995
Key publication · disorder Biosynthesis of the side chain of yeast glycosylphosphatidylinositol anchors is operated by novel mannosyltransferases located in the endoplasmic reticulum and the Golgi apparatus.The Journal of biological chemistry · 1995
Manually curated
Association Review

In brief

The association between SLC35D1 (Solute Carrier Family 35 Member D1) and Congenital Disorder Of Glycosylation, Type Ik is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 67
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
SLC35D1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Congenital Disorder Of Glycosylation, Type Ik

The disorder

12 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

50 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

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