DisGeNET - a database of gene-disease associations

rs2078087, NMNAT2

N. diseases: 4

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Alanine aminotransferase measurement

CUI:	C0201836
Disease:	Alanine aminotransferase measurement

77

1

183389270

intron variant

C/T

snv

0.16

0.700

1.000

2012

2012

Aspartate aminotransferase measurement

CUI:	C0201899
Disease:	Aspartate aminotransferase measurement

76

1

183389270

intron variant

C/T

snv

0.16

0.700

1.000

2012

2012

Polysomnography

CUI:	C0162701
Disease:	Polysomnography

249

1

183389270

intron variant

C/T

snv

0.16

0.700

1.000

2012

2012

Serum Alanine Aminotransferase Measurement

CUI:	C1883008
Disease:	Serum Alanine Aminotransferase Measurement

77

1

183389270

intron variant

C/T

snv

0.16

0.700

1.000

2012

2012