DisGeNET - a database of gene-disease associations

EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT, C4310632

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	11212
Gene Symbol:	PLPBP

PLPBP

0.600

Biomarker

disease

GENOMICS_ENGLAND

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B₆-Dependent Epilepsy.

27912044

2016

Entrez Id:	11212
Gene Symbol:	PLPBP

PLPBP

0.600

GeneticVariation

disease

UNIPROT

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B₆-Dependent Epilepsy.

27912044

2016

Entrez Id:	11212
Gene Symbol:	PLPBP

PLPBP

0.600

CausalMutation

disease

CLINVAR