RSPH1, radial spoke head component 1, 89765

N. diseases: 47; N. variants: 14
Disease: Kartagener Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 Biomarker disease BEFREE Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia. 25473808 2014
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 GeneticVariation disease BEFREE Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568 2014
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 GeneticVariation disease BEFREE Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. 24518672 2014
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 GeneticVariation disease BEFREE Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 GermlineCausalMutation disease ORPHANET Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013