DisGeNET - a database of gene-disease associations

SLC25A24, solute carrier family 25 member 24, 29957

N. diseases: 141; N. variants: 5

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:

rs1553253989

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C2676780
Disease:

Progeroid Syndrome, Congenital, Petty Type

0.810

GeneticVariation

BEFREE

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.

30329211

2018

dbSNP:

rs1553253989

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C2676780
Disease:

Progeroid Syndrome, Congenital, Petty Type

0.810

GeneticVariation

UNIPROT

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

29100093

2017

dbSNP:

rs1553253989

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C2676780
Disease:

Progeroid Syndrome, Congenital, Petty Type

0.810

CausalMutation

CLINVAR

dbSNP:

rs1553253990

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C2676780
Disease:

Progeroid Syndrome, Congenital, Petty Type

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

29100093

2017

dbSNP:

rs1553253990

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C2676780
Disease:

Progeroid Syndrome, Congenital, Petty Type

0.800

CausalMutation

CLINVAR

dbSNP:

rs547364

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0023508
Disease:

White Blood Cell Count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs663045

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0023508
Disease:

White Blood Cell Count procedure

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs663045

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0200633
Disease:

Neutrophil count (procedure)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs663045

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0200641
Disease:

Blood basophil count (lab test)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs663045

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs663045

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0857490
Disease:

Granulocyte count

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs10494090

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0017638
Disease:

Glioma

0.700

GeneticVariation

GWASDB

Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

19578366

2009

dbSNP:

rs10494090

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0085136
Disease:

Central Nervous System Neoplasms

0.700

GeneticVariation

GWASDB

Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

19578366

2009

dbSNP:

rs1553253989

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0345382
Disease:

Gorlin Chaudhry Moss syndrome

0.010

GeneticVariation

BEFREE

Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS.

29100093

2017

dbSNP:

rs1553253990

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0345382
Disease:

Gorlin Chaudhry Moss syndrome

0.010

GeneticVariation

BEFREE

Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS.

29100093

2017