DisGeNET - a database of gene-disease associations

C17orf100, chromosome 17 open reading frame 100, 388327

N. diseases: 3; N. variants: 8

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA ×

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:

rs587777578

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.800

GeneticVariation

UNIPROT

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

26384929

2015

dbSNP:

rs863225448

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.800

GeneticVariation

UNIPROT

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

26384929

2015

dbSNP:

rs587777578

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.800

GeneticVariation

UNIPROT

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

24995870

2014

dbSNP:

rs863225448

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.800

GeneticVariation

UNIPROT

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

24995870

2014

dbSNP:

rs548065551

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.800

GeneticVariation

UNIPROT

dbSNP:

rs548065551

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777578

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.800

GeneticVariation

CLINVAR

dbSNP:

rs587777578

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.800

CausalMutation

CLINVAR

dbSNP:

rs863225448

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057519449

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.700

GeneticVariation

CLINVAR

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.

28673551

2017

dbSNP:

rs1057519449

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.700

GeneticVariation

CLINVAR

Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay.

27261973

2016

dbSNP:

rs1057519449

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

0.700

CausalMutation

CLINVAR

dbSNP:

rs863225447

Entrez Id:	284111;388327;100652883
Gene Symbol:	SLC13A5;C17orf100;ALOX15P1

SLC13A5;C17orf100;ALOX15P1

CUI:	C4014621
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

CACTTTCTCCTG

0.700

CausalMutation

CLINVAR