Genopathy
Gene-Disorder Association · Article
Gene
ADCY1
Adenylate Cyclase 1
Disorder
Deafness, Autosomal Recessive 44
First reported 2004
Key publication · gene–disorder DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.Human heredity · 2004
Manually curated
Association Review

In brief

The association between ADCY1 (Adenylate Cyclase 1) and Deafness, Autosomal Recessive 44 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording a known molecular basis.

Sources 2
Clinical variants 7
Symptoms 2
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
ADCY1

The gene

2 source summaries

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

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04
Deafness, Autosomal Recessive 44

The disorder

8 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

1 clinical feature

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

7 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
Provenance

References & sources

6 references

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

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