DisGeNET - a database of gene-disease associations

PREPL, prolyl endopeptidase like, 9581

N. diseases: 58; N. variants: 22

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs775827496

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

CLINVAR

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

28717662

2017

dbSNP:

rs775827496

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

CLINVAR

The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter.

26537754

2016

dbSNP:

rs1172015222

Entrez Id:	9581
Gene Symbol:	PREPL

PREPL

CUI:	C4479088
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 22

0.700

GeneticVariation

CLINVAR

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

24610330

2014

dbSNP:

rs753545038

Entrez Id:	9581
Gene Symbol:	PREPL

PREPL

CUI:	C4479088
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 22

0.700

GeneticVariation

CLINVAR

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

24610330

2014

dbSNP:

rs758019788

Entrez Id:	9581
Gene Symbol:	PREPL

PREPL

CUI:	C4479088
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 22

0.700

CausalMutation

CLINVAR

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

24610330

2014

dbSNP:

rs775517492

Entrez Id:	9581
Gene Symbol:	PREPL

PREPL

CUI:	C4479088
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 22

0.700

CausalMutation

CLINVAR

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

24610330

2014

dbSNP:

rs775827496

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

CLINVAR

Carrier subunit of plasma membrane transporter is required for oxidative folding of its helper subunit.

22493502

2012

dbSNP:

rs141944551

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

19782624

2010

dbSNP:

rs146963107

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

19782624

2010

dbSNP:

rs368796166

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

19782624

2010

dbSNP:

rs775827496

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

CLINVAR

Pathophysiology and treatment of cystinuria.

20517292

2010

dbSNP:

rs776729515

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

19782624

2010

dbSNP:

rs141944551

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

16609684

2006

dbSNP:

rs146963107

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

16609684

2006

dbSNP:

rs368796166

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

16609684

2006

dbSNP:

rs776729515

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

16609684

2006

dbSNP:

rs141944551

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

16138908

2005

dbSNP:

rs141944551

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

15635077

2005

dbSNP:

rs146963107

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

16138908

2005

dbSNP:

rs146963107

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

15635077

2005

dbSNP:

rs368796166

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

16138908

2005

dbSNP:

rs368796166

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

15635077

2005

dbSNP:

rs775827496

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

CLINVAR

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

15635077

2005

dbSNP:

rs776729515

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

16138908

2005

dbSNP:

rs776729515

Entrez Id:	6519;9581
Gene Symbol:	SLC3A1;PREPL

SLC3A1;PREPL

CUI:	C0010691
Disease:

Cystinuria

0.700

GeneticVariation

UNIPROT

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

15635077

2005