DisGeNET - a database of gene-disease associations

EGLN1, egl-9 family hypoxia inducible factor 1, 54583

N. diseases: 130; N. variants: 14

Disease: Erythrocytosis, Familial, 3 ×

Variant: rs119476045 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs119476045

rs119476045

Entrez Id:	54583
Gene Symbol:	EGLN1

EGLN1

CUI:	C1853286
Disease:

Erythrocytosis, Familial, 3

C

0.700

CausalMutation

CLINVAR