DisGeNET - a database of gene-disease associations

rs104894636, SGSH

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.

Mucopolysaccharidosis Type IIIA

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

69

1.000

0.120

17

80217061

missense variant

G/A

snv

1.5E-04

2.0E-04

0.810

1.000

1997

2017

Abnormality of carbohydrate metabolism/homeostasis

CUI:	C4023599
Disease:	Abnormality of carbohydrate metabolism/homeostasis

1

1.000

0.120

17

80217061

missense variant

G/A

snv

1.5E-04

2.0E-04

0.700