CCDC39, coiled-coil domain containing 39, 339829

N. diseases: 2; N. variants: 33
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: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 4 0.900 None 1.000 3 4 2011 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 9 33 1990 2016