DisGeNET - a database of gene-disease associations

PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12

Disease: Agenesis of corpus callosum ×

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:	C0175754
Disease:	Agenesis of corpus callosum

Agenesis of corpus callosum

0.110

GeneticVariation

disease

BEFREE

Corpus callosum dysgenesis was associated with PYCR1 and ALDH18A1 mutations.

23963297

2014

CUI:	C0175754
Disease:	Agenesis of corpus callosum

Agenesis of corpus callosum

0.110

Biomarker

disease

HPO