CCDC39, coiled-coil domain containing 39, 339829

N. diseases: 56; N. variants: 49
Source: ALL
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: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2017 2017
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
disease Disease or Syndrome 39 5 0.200 None 0
CUI: C1855672
Disease: Immotile cilia
Immotile cilia
phenotype Finding 41 0.100 None 0
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
disease Disease or Syndrome 29 2 0.200 None 0
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
disease Disease or Syndrome 30 3 0.200 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
disease Disease or Syndrome 30 2 0.200 None 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility
disease Anatomical Abnormality 9 5 0.100 None 0
Abnormal axonemal organization of respiratory motile cilia
disease Anatomical Abnormality 3 0.100 None 0
CUI: C4022988
Disease: Absent inner dynein arms
Absent inner dynein arms
phenotype Finding 2 0.100 None 0
Impaired nasal mucociliary clearance
phenotype Finding 41 0.100 None 0
CUI: C0037369
Disease: Smoking
Smoking
phenotype Behavior and Behavior Mechanisms Individual Behavior 391 765 0.100 None 1.000 1 1 2017 2017
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.100 None 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 80 6 0.100 None 0
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.100 None 0
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 30 17 0.200 None 0
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 29 0.200 None 0
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 39 8 0.200 None 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
Other specified congenital malformations of respiratory system
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 13 0.200 None 0
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 59 402 0.100 None 1.000 9 33 1990 2016
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 2 5 0.900 None 1.000 7 5 2011 2014
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.350 strong 1.000 5 2011 2014