Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894884
rs104894884
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C4746984
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		0.800 GeneticVariation UNIPROT X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856 2007
dbSNP: rs104894885
rs104894885
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C4746984
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		0.800 GeneticVariation UNIPROT X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856 2007
dbSNP: rs104894884
rs104894884
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C4746984
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894885
rs104894885
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C4746984
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1257734702
rs1257734702
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs794726863
rs794726863
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C4225420
Disease:
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794726863
rs794726863
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0020796
Disease:
Profound Mental Retardation 		0.010 GeneticVariation BEFREE To date, only one pathogenic variant of RNF113A, namely c.901C>T; p.Gln301Ter, has been reported in humans by Tarpey et al. in 2009.Thereafter, Corbett et al. stated that this variant was responsible for an X-linked form of nonphotosensitive trichothiodystrophy associated with profound intellectual disability, microcephaly, partial corpus callosum agenesis, microphallus, and absent or rudimentary testes. 31793730 2020
dbSNP: rs794726863
rs794726863
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C1848901
Disease:
TESTES, RUDIMENTARY 		0.010 GeneticVariation BEFREE To date, only one pathogenic variant of RNF113A, namely c.901C>T; p.Gln301Ter, has been reported in humans by Tarpey et al. in 2009.Thereafter, Corbett et al. stated that this variant was responsible for an X-linked form of nonphotosensitive trichothiodystrophy associated with profound intellectual disability, microcephaly, partial corpus callosum agenesis, microphallus, and absent or rudimentary testes. 31793730 2020
dbSNP: rs1801316
rs1801316
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0342776
Disease:
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		0.010 GeneticVariation BEFREE Therefore, we hypothesize that the novel G32R mutation in NDUFA1 is causing complex I deficiency either by itself or in synergy with additional mtDNA variants. 19185523 2009
dbSNP: rs104894884
rs104894884
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0424605
Disease:
Developmental delay (disorder) 		0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856 2007
dbSNP: rs104894884
rs104894884
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0557874
Disease:
Global developmental delay 		0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856 2007
dbSNP: rs104894884
rs104894884
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0014550
Disease:
Myoclonic Epilepsy 		0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856 2007
dbSNP: rs104894885
rs104894885
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0557874
Disease:
Global developmental delay 		0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856 2007
dbSNP: rs104894885
rs104894885
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0424605
Disease:
Developmental delay (disorder) 		0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856 2007
dbSNP: rs104894885
rs104894885
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0023264
Disease:
Leigh Disease 		0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856 2007
dbSNP: rs104894885
rs104894885
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0014550
Disease:
Myoclonic Epilepsy 		0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856 2007