DisGeNET - a database of gene-disease associations

NIPAL1, NIPA like domain containing 1, 152519

N. diseases: 17; N. variants: 17

Disease: RETINITIS PIGMENTOSA 49 ×

Variant: rs62625014 ×

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:

rs62625014

Entrez Id:	1259;152519;101927157
Gene Symbol:	CNGA1;NIPAL1;LOC101927157

CNGA1;NIPAL1;LOC101927157

CUI:	C3151059
Disease:

RETINITIS PIGMENTOSA 49

0.800

GeneticVariation

UNIPROT

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

15570217

2004

dbSNP:

rs62625014

Entrez Id:	1259;152519;101927157
Gene Symbol:	CNGA1;NIPAL1;LOC101927157

CNGA1;NIPAL1;LOC101927157

CUI:	C3151059
Disease:

RETINITIS PIGMENTOSA 49

0.800

GeneticVariation

UNIPROT

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

7479749

1995

dbSNP:

rs62625014

Entrez Id:	1259;152519;101927157
Gene Symbol:	CNGA1;NIPAL1;LOC101927157

CNGA1;NIPAL1;LOC101927157

CUI:	C3151059
Disease:

RETINITIS PIGMENTOSA 49

0.800

CausalMutation

CLINVAR