RSPH1, radial spoke head component 1, 89765

N. diseases: 3; N. variants: 14
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		disease Disease or Syndrome 1 7 0.700 None 1.000 0 7 2013 2014
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 27 67 0.400 None 1.000 1 6 2013 2014
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 36 402 0.100 None 1.000 4 9 2013 2015