Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852863
rs137852863
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs137852863
rs137852863
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603 2012
dbSNP: rs137852863
rs137852863
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 20571988 2010
dbSNP: rs137852863
rs137852863
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
dbSNP: rs137852863
rs137852863
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. 19384974 2009
dbSNP: rs137852863
rs137852863
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR The unique neuroradiology of complex I deficiency due to NDUFA12L defect. 18180188 2008
dbSNP: rs137852863
rs137852863
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Bovine complex I is a complex of 45 different subunits. 16950771 2006
dbSNP: rs137852863
rs137852863
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
dbSNP: rs137852863
rs137852863
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. 10649489 2000