Gene

EPAS1

HGNC: HGNC:3374 | GeneCards: EPAS1
Saudi human-genetics coreAll Saudi-affiliated records

Overview

Approved name
Cytogenetic location
-
Locus type
-
In SaudiVarKB
5 articles, 5 mentions

Synonyms

None recorded

External resources

ClinVar ↗PubMed ↗
5Publications17Co-reported phenotypes
0Reported variants
0ClinVar pathogenic / likely pathogenic
1Saudi regionsOpenLiterature network

Co-reported phenotypes

Phenotypes named in the same articles as EPAS1. Co-mention, not a proven association.

PhenotypeArticlesEvidence
Alstrom syndrome1View sentences
Down syndrome1View sentences
autism spectrum disorder1View sentences
breast cancer1View sentences
colorectal cancer1View sentences
congenital heart disease1View sentences
diabetes mellitus1View sentences
familial hypercholesterolemia1View sentences
hepatocellular carcinoma1View sentences
hypertension1View sentences
inflammatory bowel disease1View sentences
leukemia1View sentences
lung cancer1View sentences
obesity1View sentences
ovarian cancer1View sentences
polycystic kidney disease1View sentences
prostate cancer1View sentences

Reported variants

Variants linked to EPAS1 through dbSNP or LitVar2. ClinVar status is shown for core-subset variants.

No variants with a confirmed gene link.

Saudi regions

Regions or cities named in the abstracts of articles that mention EPAS1.

RegionArticles
Hail1