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: 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 6 3 2012 2018
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		disease Disease or Syndrome 2 2 0.100 None 1.000 5 2 2012 2018
CUI: C4022986
Disease: Absent inner and outer dynein arms
Absent inner and outer dynein arms 		phenotype Finding 3 2 0.100 None 0 1
CUI: C4022990
Disease: Dynein arm defect of respiratory motile cilia
Dynein arm defect of respiratory motile cilia 		phenotype Finding 3 2 0.100 None 0 1
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 9 8 0.100 None 0 1
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 0.100 None 0 2