RSPH1, radial spoke head component 1, 89765

N. diseases: 47; N. variants: 14
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 CausalMutation disease CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568 2014
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation disease ORPHANET Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013