Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519566
rs1057519566
MDH2
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
dbSNP: rs1057519567
rs1057519567
MDH2
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1195505218
rs1195505218
SLC25A22
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1565035177
rs1565035177
SLC25A22
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs375002796
rs375002796
MDH2
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
dbSNP: rs796053353
rs796053353
STXBP1
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs879253748
rs879253748
GABRA1
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		T 0.700 CausalMutation CLINVAR