DisGeNET - a database of gene-disease associations

SLC51A, solute carrier family 51 subunit alpha, 200931

N. diseases: 10; N. variants: 7

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:

rs540053239

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C1837073
Disease:

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

0.800

GeneticVariation

UNIPROT

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

24387991

2014

dbSNP:

rs540053239

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C1837073
Disease:

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

0.800

GeneticVariation

UNIPROT

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

24387990

2014

dbSNP:

rs587777195

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C1837073
Disease:

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

0.800

GeneticVariation

UNIPROT

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

24387990

2014

dbSNP:

rs587777195

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C1837073
Disease:

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

0.800

GeneticVariation

UNIPROT

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

24387991

2014

dbSNP:

rs540053239

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C1837073
Disease:

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777195

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C1837073
Disease:

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777192

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C1837073
Disease:

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777193

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C1837073
Disease:

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777196

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C1837073
Disease:

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

0.700

CausalMutation

CLINVAR

dbSNP:

rs712012

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C0014175
Disease:

Endometriosis

0.010

GeneticVariation

BEFREE

We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.

21429654

2011

dbSNP:

rs939883

Entrez Id:	5130;200931
Gene Symbol:	PCYT1A;SLC51A

PCYT1A;SLC51A

CUI:	C0080178
Disease:

Spina Bifida

0.010

GeneticVariation

BEFREE

The PCYT1A SNP rs939883 genotype AA was associated with a twofold increased risk of spina bifida (odds ratio = 1.89, 95% CI = 0.97-3.67).

17184542

2006