ISCA1, iron-sulfur cluster assembly 1, 81689

N. diseases: 23; N. variants: 6
Disease: Multiple Mitochondrial Dysfunctions Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 		0.110 CausalMutation disease CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 		0.110 GeneticVariation disease BEFREE Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017