ALPK1, alpha kinase 1, 80216

N. diseases: 54; N. variants: 10
Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 GeneticVariation group CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019