Genopathy
Gene-Disorder Association · Article
Gene
SASH1
SAM And SH3 Domain Containing 1
Disorder
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
First reported 2015
Supporting publications 1
Key publication · disorder Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.European journal of human genetics : EJHG · 2015
Manually curated
Association Review

In brief

The association between SASH1 (SAM And SH3 Domain Containing 1) and Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 9
Symptoms 23
Compounds 0
Trials 0
Publications 1
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

4 sources

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

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03
SASH1

The gene

1 source summary

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

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04
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma

The disorder

7 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

13 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

9 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

7 references

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

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