Genopathy
Gene-Disorder Association · Article
Gene
ASIP
Agouti Signaling Protein
Disorder
Skin/Hair/Eye Pigmentation, Variation In, 9
First reported 1995
Key publication · disorder Ectopic expression of the agouti gene in transgenic mice causes obesity, features of type II diabetes, and yellow fur.Proceedings of the National Academy of Sciences of the United States of America · 1995
Manually curated
Association Review

In brief

The association between ASIP (Agouti Signaling Protein) and Skin/Hair/Eye Pigmentation, Variation In, 9 is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a known molecular basis.

Sources 2
Clinical variants 1
Symptoms 0
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

2 sources

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

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03
ASIP

The gene

1 source summary

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

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04
Skin/Hair/Eye Pigmentation, Variation In, 9

The disorder

2 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

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06
Provenance

References & sources

4 references

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

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