AGTPBP1, ATP/GTP binding protein 1, 23287

N. diseases: 63; N. variants: 10
Disease: Primary Ciliary Dyskinesia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.020 GeneticVariation disease BEFREE Deletion of exons encoding carboxypeptidase domain of Nna1 results in Purkinje cell degeneration (pcd) phenotype. 30225910 2018
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.020 AlteredExpression disease BEFREE Northern hybridization demonstrated that expression of Nna1, the gene responsible for the Purkinje cell degeneration (pcd) phenotype, was almost negligible in the brain of homozygous hamsters. 17464795 2007