DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder) ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	107
Gene Symbol:	ADCY1

ADCY1

adenylate cyclase 1

0.659

0.462

1.00

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

DEAFNESS, AUTOSOMAL RECESSIVE (disorder)

disease

0.300

limited

1.000

0

2014

2014