DisGeNET - a database of gene-disease associations

ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION, C0796028

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

Gene

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

P60891

phosphoribosyl pyrophosphate synthetase 1

Kinase

151

0.584

0.731

0.92

0.770

None

1.000

12

4

1993

2019