CRTAP, cartilage associated protein, 10491

N. diseases: 66; N. variants: 15
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: C1853162
Disease: Osteogenesis Imperfecta Type VII
Osteogenesis Imperfecta Type VII 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2 13 0.920 strong 1.000 6 13 2006 2012
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.600 None 1.000 23 1 2006 2018
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 8 93 0.310 None 1.000 2 2009 2011
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 13 257 0.300 None 1.000 1 2008 2008
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		disease Disease or Syndrome; Congenital Abnormality 12 65 0.300 None 1.000 1 2011 2011
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 18 67 0.300 None 1.000 1 2011 2011
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		disease Congenital Abnormality 57 6 0.110 None 1.000 1 2010 2010
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.110 None 1.000 1 1 2018 2018
CUI: C0265905
Disease: Agenesis of pulmonary artery
Agenesis of pulmonary artery 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 1 0.100 None 0
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		phenotype Finding 41 0.100 None 0
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease Anatomical Abnormality 10 2 0.100 None 0
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype Finding 123 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype Finding 112 18 0.100 None 0
CUI: C1970501
Disease: Hypoplastic pulmonary veins
Hypoplastic pulmonary veins 		phenotype Finding 3 0.100 None 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		phenotype Finding 6 1 0.100 None 0
CUI: C1970461
Disease: Externally rotated/abducted legs
Externally rotated/abducted legs 		phenotype Finding 2 0.100 None 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype Finding 71 5 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		phenotype Finding 15 1 0.100 None 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		phenotype Finding 10 1 0.100 None 0
CUI: C0544755
Disease: Genu varum
Genu varum 		phenotype Musculoskeletal Diseases Finding 60 6 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0