DisGeNET - a database of gene-disease associations

Gene: KMT2D ×

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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:	8085
Gene Symbol:	KMT2D

KMT2D

CUI:	C1708353
Disease:	Hereditary Paraganglioma-Pheochromocytoma Syndrome

Hereditary Paraganglioma-Pheochromocytoma Syndrome

0.300

Biomarker

CLINGEN

Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.

2015