DisGeNET - a database of gene-disease associations

CHRND, cholinergic receptor nicotinic delta subunit, 1144

N. diseases: 92; N. variants: 18

Disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909503

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

18398509

2008

dbSNP:

rs121909504

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

18398509

2008

dbSNP:

rs121909509

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

18398509

2008

dbSNP:

rs121909503

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.

12499478

2002

dbSNP:

rs121909504

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.

12499478

2002

dbSNP:

rs121909509

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.

12499478

2002

dbSNP:

rs121909503

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

11435464

2001

dbSNP:

rs121909504

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

11435464

2001

dbSNP:

rs121909509

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

11435464

2001

dbSNP:

rs121909503

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909504

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909509

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909508

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.700

CausalMutation

CLINVAR

dbSNP:

rs879255564

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C4225371
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

0.700

CausalMutation

CLINVAR