Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692037
rs1131692037
Entrez Id: 4832;65993;197342
Gene Symbol: NME3;MRPS34;EME2
NME3;MRPS34;EME2
CUI: C4540029
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		T 0.800 GeneticVariation CLINVAR Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. 28777931 2017
dbSNP: rs1131692037
rs1131692037
Entrez Id: 4832;65993;197342
Gene Symbol: NME3;MRPS34;EME2
NME3;MRPS34;EME2
CUI: C4540029
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		0.800 GeneticVariation UNIPROT
dbSNP: rs1131692037
rs1131692037
Entrez Id: 4832;65993;197342
Gene Symbol: NME3;MRPS34;EME2
NME3;MRPS34;EME2
CUI: C4540029
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		T 0.800 CausalMutation CLINVAR
dbSNP: rs763672163
rs763672163
Entrez Id: 4832;65993;197342
Gene Symbol: NME3;MRPS34;EME2
NME3;MRPS34;EME2
CUI: C4540029
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		A 0.700 GeneticVariation CLINVAR Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. 28777931 2017
dbSNP: rs1161932777
rs1161932777
Entrez Id: 4832;65993;197342
Gene Symbol: NME3;MRPS34;EME2
NME3;MRPS34;EME2
CUI: C0023264
Disease:
Leigh Disease 		A 0.700 CausalMutation CLINVAR Specific binding of Leu-enkephalin to small and large intestinal epithelial cells from guinea-pig. 2877793 1986
dbSNP: rs1131692037
rs1131692037
Entrez Id: 4832;65993;197342
Gene Symbol: NME3;MRPS34;EME2
NME3;MRPS34;EME2
CUI: C0023264
Disease:
Leigh Disease 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1161932777
rs1161932777
Entrez Id: 4832;65993;197342
Gene Symbol: NME3;MRPS34;EME2
NME3;MRPS34;EME2
CUI: C4540029
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		A 0.700 CausalMutation CLINVAR
dbSNP: rs563189672
rs563189672
Entrez Id: 4832;65993;197342
Gene Symbol: NME3;MRPS34;EME2
NME3;MRPS34;EME2
CUI: C4540029
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		T 0.700 CausalMutation CLINVAR
dbSNP: rs763672163
rs763672163
Entrez Id: 4832;65993;197342
Gene Symbol: NME3;MRPS34;EME2
NME3;MRPS34;EME2
CUI: C4540029
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		A 0.700 CausalMutation CLINVAR