Genopathy
Gene-Disorder Association · Article
Gene
CFTR
CF Transmembrane Conductance Regulator
Disorder
Male Infertility
First reported 1995
Supporting publications 36
Key publication · gene–disorder Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.The New England journal of medicine · 1995
Key publication · disorder Mumps orchitis and testicular atrophy; a factor in male sterility.Annals of internal medicine · 1950
Manually curated
Association Review

In brief

The association between CFTR (CF Transmembrane Conductance Regulator) and Male Infertility is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 1
Symptoms 3
Compounds 0
Trials 0
Publications 36
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
CFTR

The gene

2 source summaries

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

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04
Male Infertility

The disorder

6 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
Literature

Reading

36 publications

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

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07
Provenance

References & sources

13 references

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

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