RSPH1, radial spoke head component 1, 89765

N. diseases: 47; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 GeneticVariation disease UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 GeneticVariation disease UNIPROT Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 Biomarker disease CTD_human
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 CausalMutation disease CLINVAR
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 Biomarker disease GENOMICS_ENGLAND
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
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.360 Biomarker disease BEFREE Individuals with PCD caused by mutations in <i>RSPH1</i> (radial spoke head 1 homolog) have been reported to have a milder phenotype than other individuals with PCD, as evidenced by a lower incidence of neonatal respiratory distress, higher nasal nitric oxide concentrations, and better lung function. 30896965 2019
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.360 GeneticVariation disease BEFREE We report 21 individuals with PCD (16 families) with biallelic mutations in RSPH9, RSPH4A, and RSPH1, including seven novel mutations comprising missense variants, and performed high-resolution immunofluorescence analysis of human respiratory cilia. 25789548 2015
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.360 GeneticVariation disease BEFREE The 16 individuals with RSPH1 mutations had some features of PCD; however, nasal nitric oxide levels were higher than in patients with PCD with other gene mutations (98.3 vs. 20.7 nl/min; P < 0.0003). 24568568 2014
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.360 Biomarker disease BEFREE Our data provide evidence for structural and functional heterogeneity in radial spokes, suggest a mechanism for the milder RSPH1 PCD phenotype and demonstrate that cryo-electron tomography can be applied to human disease by directly imaging patient samples. 25473808 2014
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.360 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: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.360 GeneticVariation disease BEFREE Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.360 GermlineCausalMutation disease ORPHANET 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 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
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation disease ORPHANET Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013
CUI: C0010200
Disease: Coughing
Coughing 		0.110 GeneticVariation phenotype BEFREE Additionally, individuals with RSPH1 mutations had a lower prevalence (8 of 16) of neonatal respiratory distress, and later onset of daily wet cough than typical for PCD, and better lung function (FEV1), compared with 75 age- and sex-matched PCD cases (73.0 vs. 61.8, FEV1 % predicted; P = 0.043). 24568568 2014
CUI: C0010200
Disease: Coughing
Coughing 		0.110 Biomarker phenotype HPO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845 2015