DisGeNET - a database of gene-disease associations

rs386833621, OAT

N. diseases: 2

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.

Gyrate Atrophy

CUI:	C0018425
Disease:	Gyrate Atrophy

35

1.000

0.080

10

124401788

missense variant

C/T

snv

8.0E-06

1.4E-05

0.710

1.000

1988

2013

Hyperornithinemia

CUI:	C0599035
Disease:	Hyperornithinemia

65

1.000

0.080

10

124401788

missense variant

C/T

snv

8.0E-06

1.4E-05

0.700