DisGeNET - a database of gene-disease associations

rs1563366896, HGSNAT

N. diseases: 3

Disease: RETINITIS PIGMENTOSA 73 ×

Source: ALL

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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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

RETINITIS PIGMENTOSA 73

CUI:	C4225287
Disease:	RETINITIS PIGMENTOSA 73

0.700

CausalMutation

CLINVAR

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

2008