ARMC4, armadillo repeat containing 4, 55130

N. diseases: 3; N. variants: 13
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: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23
disease Disease or Syndrome 1 13 0.900 None 1.000 2 13 2013 2014
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 2 2013 2013
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 1 1 2013 2013