DisGeNET - a database of gene-disease associations

Gene: ECHS1 ×

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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:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C0018784
Disease:	Sensorineural Hearing Loss (disorder)

Sensorineural Hearing Loss (disorder)

0.100

GeneticVariation

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

2016