DisGeNET - a database of gene-disease associations

Gene: MITF ×

Results per page

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:	4286
Gene Symbol:	MITF

MITF

CUI:	C1708353
Disease:	Hereditary Paraganglioma-Pheochromocytoma Syndrome

Hereditary Paraganglioma-Pheochromocytoma Syndrome

0.300

Biomarker

CLINGEN

The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.

2016