DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: MPS III C ×

Variant: rs1554537612 ×

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:

rs1554537612

rs1554537612

HGSNAT

CUI:	C0086649
Disease:	MPS III C

MPS III C

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1554537612

rs1554537612

HGSNAT

CUI:	C0086649
Disease:	MPS III C

MPS III C

C

0.700

GeneticVariation

CLINVAR