CCDC8, coiled-coil domain containing 8, 83987

N. diseases: 98; N. variants: 3
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: C3280146
Disease: THREE M SYNDROME 3
THREE M SYNDROME 3 		disease Disease or Syndrome 1 2 0.400 None 1.000 2 2 2011 2017
CUI: C1851996
Disease: Dwarfism tall vertebrae
Dwarfism tall vertebrae 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2011 2011
CUI: C2678312
Disease: Three M Syndrome 1
Three M Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 2 4 0.300 None 1.000 1 2011 2011
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height 		phenotype Finding 7 1 0.100 None 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		phenotype Finding 10 0.100 None 0
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 11 11 0.550 limited 1.000 5 2011 2017
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		phenotype Finding 13 0.100 None 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		phenotype Finding 14 0.100 None 0
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis 		disease Anatomical Abnormality 15 2 0.100 None 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		phenotype Finding 25 4 0.100 None 0
CUI: C0234213
Disease: Sensory denervation disorder
Sensory denervation disorder 		phenotype Sign or Symptom 29 0.010 None 1.000 1 2018 2018
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype Finding 35 5 0.100 None 0
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype Finding 42 1 0.100 None 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		phenotype Finding 50 0.100 None 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 50 0.100 None 0
CUI: C0426789
Disease: Short thorax
Short thorax 		phenotype Finding 51 8 0.100 None 0
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 69 20 0.100 None 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		phenotype Finding 73 3 0.100 None 0
CUI: C0035920
Disease: Rubella
Rubella 		disease Infections Disease or Syndrome 82 11 0.020 None 1.000 2 2000 2010
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2014 2014
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 96 4 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0