Genopathy
Gene-Disorder Association · Article
Gene
COL4A1
Collagen Type IV Alpha 1 Chain
Disorder
Hemorrhage, Intracerebral
First reported 2008
Supporting publications 2
Key publication · gene–disorder [Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene].Bulletin de l'Academie nationale de medecine · 2008
Key publication · disorder The surgical treatment of spontaneous and traumatic intracerebral hemorrhage.The American journal of the medical sciences · 1950
Manually curated
Association Review

In brief

The association between COL4A1 (Collagen Type IV Alpha 1 Chain) and Hemorrhage, Intracerebral is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, causative variation, and a susceptibility locus.

Sources 4
Clinical variants 301
Symptoms 13
Compounds 0
Trials 0
Publications 2
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

4 sources

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

Request access
03
COL4A1

The gene

1 source summary

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

Request access
04
Hemorrhage, Intracerebral

The disorder

7 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

301 clinical variants

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

Request access
06
Literature

Reading

2 publications

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

Request access
07
Provenance

References & sources

8 references

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

Request access