DisGeNET - a database of gene-disease associations

Deafness, Autosomal Recessive 7, C1832978

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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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	117531
Gene Symbol:	TMC1

TMC1

Q8TDI8

transmembrane channel like 1

Ion channel

16

0.769

0.346

9.2E-19

0.900

definitive

1.000

17

14

1980

2015