ARMC9, armadillo repeat containing 9, 80210

N. diseases: 80; N. variants: 9
Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.020 GeneticVariation disease BEFREE Our report of variant in ARMC9 Leading to Joubert syndrome phenotype (JS30), elucidates the genetic heterogeneity of Joubert syndrome, and expands the gene list for ciliopathies. 29159890 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.020 GeneticVariation disease BEFREE Identifying ARMC9 mutations as a cause of JS takes us one step closer to a full genetic understanding of this important disorder and enables future functional work to define the central biological mechanisms underlying JS and other ciliopathies. 28625504 2017