DisGeNET - a database of gene-disease associations

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, C4084823

Source: ALL

Results per page

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:	1134
Gene Symbol:	CHRNA1

CHRNA1

P02708

cholinergic receptor nicotinic alpha 1 subunit

Ion channel

109

0.615

0.577

2.1E-08

0.600

strong

1.000

6

8

1995

2006

Entrez Id:	1140
Gene Symbol:	CHRNB1

CHRNB1

P11230

cholinergic receptor nicotinic beta 1 subunit

Ion channel

54

0.700

0.462

5.0E-08

0.300

strong

1.000

1

0

1977

1977

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

Q07001

cholinergic receptor nicotinic delta subunit

Ion channel

92

0.641

0.462

5.4E-09

0.300

strong

1.000

1

0

2001

2001

Entrez Id:	1145
Gene Symbol:	CHRNE

CHRNE

Q04844

cholinergic receptor nicotinic epsilon subunit

Ion channel

97

0.636

0.577

4.7E-09

0.300

strong

1.000

1

0

2011

2011