Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894705
rs104894705
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C4748752
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
0.800 GeneticVariation UNIPROT Human mitochondrial complex I in health and disease. 10330338 1999
dbSNP: rs104894705
rs104894705
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C4748752
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
0.800 GeneticVariation UNIPROT Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. 10360771 1999
dbSNP: rs104894705
rs104894705
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C4748752
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
A 0.800 CausalMutation CLINVAR
dbSNP: rs121434479
rs121434479
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C4748752
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
A 0.700 CausalMutation CLINVAR
dbSNP: rs1568985256
rs1568985256
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C4748752
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
G 0.700 CausalMutation CLINVAR
dbSNP: rs2074898
rs2074898
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0004936
Disease:
Mental disorders
0.010 GeneticVariation BEFREE To test whether this gene can confer a wide variety of psychiatric disorders, we carried out a case-control association analysis of three tagging single-nucleotide polymorphisms (rs2074896, rs2074897, and rs2074898) in the NDUFS7 gene by sequencing 330 Han Chinese patients with schizophrenia and 330 well-matched healthy controls. 22935918 2013
dbSNP: rs2074898
rs2074898
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0233514
Disease:
Abnormal behavior
0.010 GeneticVariation BEFREE To test whether this gene can confer a wide variety of psychiatric disorders, we carried out a case-control association analysis of three tagging single-nucleotide polymorphisms (rs2074896, rs2074897, and rs2074898) in the NDUFS7 gene by sequencing 330 Han Chinese patients with schizophrenia and 330 well-matched healthy controls. 22935918 2013
dbSNP: rs2074898
rs2074898
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE To test whether this gene can confer a wide variety of psychiatric disorders, we carried out a case-control association analysis of three tagging single-nucleotide polymorphisms (rs2074896, rs2074897, and rs2074898) in the NDUFS7 gene by sequencing 330 Han Chinese patients with schizophrenia and 330 well-matched healthy controls. 22935918 2013
dbSNP: rs776254971
rs776254971
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.010 GeneticVariation BEFREE The m.3376G>A transition leading to p.E24K substitution in ND1 with LHON/MELAS phenotype was modeled here in a homologous position (NuoH-E36K) in the Escherichia coli enzyme and it almost totally abolished complex I activity. 22079202 2012
dbSNP: rs776254971
rs776254971
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0162671
Disease:
MELAS Syndrome
0.010 GeneticVariation BEFREE The m.3376G>A transition leading to p.E24K substitution in ND1 with LHON/MELAS phenotype was modeled here in a homologous position (NuoH-E36K) in the Escherichia coli enzyme and it almost totally abolished complex I activity. 22079202 2012
dbSNP: rs104894705
rs104894705
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0023264
Disease:
Leigh Disease
0.010 GeneticVariation BEFREE While homozygosity for a V122M substitution in NDUFS7 (PSST) has been found in two siblings with neuropathologically proven Leigh syndrome (R. Triepels et al., Ann.Neurol. 11004438 2000