DisGeNET - a database of gene-disease associations

Gene: ADCY1 ×

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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:	107
Gene Symbol:	ADCY1

ADCY1

CUI:	C1846647
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE (disorder)

0.300

Biomarker

CLINGEN

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.

2014