DisGeNET - a database of gene-disease associations

rs386833996, SLC17A5

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.

Sialic Acid Storage Disease, Finnish Type (disorder)

CUI:	C1096903
Disease:	Sialic Acid Storage Disease, Finnish Type (disorder)

44

0.925

0.120

6

73615443

missense variant

C/T

snv

0.700

Free sialic acid storage disease

CUI:	C2931872
Disease:	Free sialic acid storage disease

2

0.925

0.120

6

73615443

missense variant

C/T

snv

0.010

1.000

2007

2007