SLC25A22, solute carrier family 25 member 22, 79751

N. diseases: 106; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918334
rs121918334
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy
A 0.800 GeneticVariation CLINVAR Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 15592994 2005
dbSNP: rs121918334
rs121918334
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy
0.800 GeneticVariation UNIPROT Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 15592994 2005
dbSNP: rs121918334
rs121918334
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy
A 0.800 CausalMutation CLINVAR
dbSNP: rs4963153
rs4963153
Entrez Id: 51286;79751
Gene Symbol: CEND1;SLC25A22
CEND1;SLC25A22
CUI: C0040420
Disease:
Tonometry
G 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs1195505218
rs1195505218
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy
T 0.700 CausalMutation CLINVAR
dbSNP: rs1195505218
rs1195505218
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0036572
Disease:
Seizures
T 0.700 CausalMutation CLINVAR
dbSNP: rs1195505218
rs1195505218
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0557874
Disease:
Global developmental delay
T 0.700 CausalMutation CLINVAR
dbSNP: rs1195505218
rs1195505218
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C1856408
Disease:
Infantile encephalopathy
T 0.700 CausalMutation CLINVAR
dbSNP: rs121918335
rs121918335
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554965669
rs1554965669
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554965669
rs1554965669
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C4552072
Disease:
X-linked infantile spasms
A 0.700 CausalMutation CLINVAR
dbSNP: rs1565035177
rs1565035177
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0557874
Disease:
Global developmental delay
G 0.700 CausalMutation CLINVAR
dbSNP: rs1565035177
rs1565035177
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy
G 0.700 CausalMutation CLINVAR
dbSNP: rs1565035177
rs1565035177
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0036572
Disease:
Seizures
G 0.700 CausalMutation CLINVAR
dbSNP: rs1565035177
rs1565035177
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C1856408
Disease:
Infantile encephalopathy
G 0.700 CausalMutation CLINVAR
dbSNP: rs587777243
rs587777243
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy
G 0.700 CausalMutation CLINVAR
dbSNP: rs796053242
rs796053242
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
C 0.700 CausalMutation CLINVAR
dbSNP: rs797045969
rs797045969
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0270855
Disease:
Early myoclonic encephalopathy
A 0.700 CausalMutation CLINVAR
dbSNP: rs936639741
rs936639741
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C4552072
Disease:
X-linked infantile spasms
A 0.700 CausalMutation CLINVAR