DisGeNET - a database of gene-disease associations

PRPS1, phosphoribosyl pyrophosphate synthetase 1, 5631

N. diseases: 151; N. variants: 26

Disease: Retinal Dystrophies ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.400

Biomarker

group

GENOMICS_ENGLAND

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

2018

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.400

Biomarker

group

HPO

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.400

GeneticVariation

group

CLINVAR