DisGeNET - a database of gene-disease associations

Gene: EGLN2 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	112398
Gene Symbol:	EGLN2

EGLN2

CUI:	C1708353
Disease:	Hereditary Paraganglioma-Pheochromocytoma Syndrome

Hereditary Paraganglioma-Pheochromocytoma Syndrome

0.300

Biomarker

CLINGEN

Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia.

2015