DisGeNET - a database of gene-disease associations

Phosphoenolpyruvate carboxykinase deficiency, C0268194

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:	5105
Gene Symbol:	PCK1

PCK1

P35558

phosphoenolpyruvate carboxykinase 1

Kinase

73

0.608

0.538

8.7E-15

0.610

strong

1.000

3

2

2014

2017

Entrez Id:	5106
Gene Symbol:	PCK2

PCK2

Q16822

phosphoenolpyruvate carboxykinase 2, mitochondrial

Kinase

53

0.653

0.423

1.7E-23

0.300

None

1.000

1

0

1991

1991