DisGeNET - a database of gene-disease associations

rs200946638, RHO

N. diseases: 2

Disease: Retinitis Pigmentosa ×

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

CUI:	C0035334
Disease:	Retinitis Pigmentosa

0.710

GeneticVariation

BEFREE

For example, three retinitis pigmentosa pedigrees were solved by identifying VUS which showed low expression levels (p.G18D, p.G101V, and p.P180T).

2019

Retinitis Pigmentosa

CUI:	C0035334
Disease:	Retinitis Pigmentosa

0.710

CausalMutation

CLINVAR