DisGeNET - a database of gene-disease associations

NMNAT1, nicotinamide nucleotide adenylyltransferase 1, 64802

N. diseases: 57; N. variants: 27

Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder) ×

Variant: rs142968179 ×

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:

rs142968179

Entrez Id:	64802
Gene Symbol:	NMNAT1

NMNAT1

CUI:	C1837873
Disease:

LEBER CONGENITAL AMAUROSIS 9 (disorder)

0.800

GeneticVariation

UNIPROT

NMNAT1 mutations cause Leber congenital amaurosis.

22842227

2012

dbSNP:

rs142968179

Entrez Id:	64802
Gene Symbol:	NMNAT1

NMNAT1

CUI:	C1837873
Disease:

LEBER CONGENITAL AMAUROSIS 9 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

22842229

2012

dbSNP:

rs142968179

Entrez Id:	64802
Gene Symbol:	NMNAT1

NMNAT1

CUI:	C1837873
Disease:

LEBER CONGENITAL AMAUROSIS 9 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

22842230

2012

dbSNP:

rs142968179

Entrez Id:	64802
Gene Symbol:	NMNAT1

NMNAT1

CUI:	C1837873
Disease:

LEBER CONGENITAL AMAUROSIS 9 (disorder)

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.

22842231

2012

dbSNP:

rs142968179

Entrez Id:	64802
Gene Symbol:	NMNAT1

NMNAT1

CUI:	C1837873
Disease:

LEBER CONGENITAL AMAUROSIS 9 (disorder)

0.800

CausalMutation

CLINVAR