DisGeNET - a database of gene-disease associations

Proline dehydrogenase deficiency, C0268529

Variant: rs2904552 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2904552

PRODH

0.800

GeneticVariation

UNIPROT

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

17135275

2007

dbSNP:

rs2904552

PRODH

0.800

GeneticVariation

UNIPROT

Functional consequences of PRODH missense mutations.

15662599

2005

dbSNP:

rs2904552

PRODH

0.800

GeneticVariation

UNIPROT

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.

12217952

2002

dbSNP:

rs2904552

PRODH

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs2904552

PRODH

0.800

CausalMutation

CLINVAR