RSPH3, radial spoke head 3, 83861

N. diseases: 44; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225311
Disease: CILIARY DYSKINESIA, PRIMARY, 32
CILIARY DYSKINESIA, PRIMARY, 32 		0.600 Biomarker disease GENOMICS_ENGLAND RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 2015
CUI: C4225311
Disease: CILIARY DYSKINESIA, PRIMARY, 32
CILIARY DYSKINESIA, PRIMARY, 32 		0.600 Biomarker disease CTD_human
CUI: C4225311
Disease: CILIARY DYSKINESIA, PRIMARY, 32
CILIARY DYSKINESIA, PRIMARY, 32 		0.600 CausalMutation disease CLINVAR
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 RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 2015
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
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GermlineCausalMutation disease ORPHANET RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 2015
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GeneticVariation disease BEFREE RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 2015
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 GermlineCausalMutation disease ORPHANET Overall, this study shows that RSPH3 mutations contribute to disease in more than 10% of PCD-affected individuals with CC/RS defects, thereby allowing an accurate diagnosis to be made in such cases. 26073779 2015
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 GeneticVariation disease BEFREE Overall, this study shows that RSPH3 mutations contribute to disease in more than 10% of PCD-affected individuals with CC/RS defects, thereby allowing an accurate diagnosis to be made in such cases. 26073779 2015
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation disease ORPHANET RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 2015
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1879645
Disease: Adverse Event by CTCAE Category
Adverse Event by CTCAE Category 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.100 Biomarker phenotype HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease HPO
CUI: C0004144
Disease: Atelectasis
Atelectasis 		0.100 Biomarker phenotype HPO
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.100 Biomarker disease HPO
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		0.100 Biomarker disease HPO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 Biomarker group HPO
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		0.100 Biomarker disease HPO
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.100 Biomarker disease HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0018520
Disease: Halitosis
Halitosis 		0.100 Biomarker phenotype HPO
CUI: C0018681
Disease: Headache
Headache 		0.100 Biomarker phenotype HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO