DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Deficiency of pyruvate kinase ×

Gene: PKLR ×

Results per page

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	5313
Gene Symbol:	PKLR

PKLR

pyruvate kinase L/R

0.603

0.615

3.5E-07

CUI:	C0340968
Disease:	Deficiency of pyruvate kinase

Deficiency of pyruvate kinase

disease

1.000

strong

1.000

0

1991

2019