rs376281345, NDUFS4

N. diseases: 2
Disease: Leigh Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570 2008
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. 12616398 2003