Genopathy
Gene-Disorder Association · Article
Gene
SSR4
Signal Sequence Receptor Subunit 4
Disorder
Congenital Disorder Of Glycosylation, Type Iic
First reported 1975
Key publication · disorder Characterization of immune response and mixed lymphocyte reactions in selected intra-H-2 recombinant strains.Journal of immunology (Baltimore, Md. : 1950) · 1975
Manually curated
Association Review

In brief

The association between SSR4 (Signal Sequence Receptor Subunit 4) and Congenital Disorder Of Glycosylation, Type Iic is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 103
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
SSR4

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 Iic

The disorder

15 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

86 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

7 references

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

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