Genopathy
Gene-Disorder Association · Article
Gene
ABL1
ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase
Disorder
Heart Disease
First reported 1950
Supporting publications 1
Key publication · disorder Statistical studies of heart disease; mortality from eight specific forms of heart disease among white persons.Public health reports (Washington, D.C. : 1896) · 1950
Manually curated
Association Review

In brief

The association between ABL1 (ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase) and Heart Disease is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 2
Symptoms 6
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.

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
ABL1

The gene

3 source summaries

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

Request access
04
Heart Disease

The disorder

18 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

Request access
06
Literature

Reading

1 publication

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

Request access
07
Provenance

References & sources

7 references

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

Request access