DisGeNET - a database of gene-disease associations

TOPORS, TOP1 binding arginine/serine rich protein, 10210

N. diseases: 54; N. variants: 5

Disease: Retinitis Pigmentosa 31 ×

Variant: rs527236116 ×

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs527236116

rs527236116

Entrez Id:	10210
Gene Symbol:	TOPORS

TOPORS

CUI:	C1835923
Disease:

Retinitis Pigmentosa 31

G

0.700

CausalMutation

CLINVAR