COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
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: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.400 limited 0
CUI: C0524595
Disease: Aseptic Necrosis of Femur Head
Aseptic Necrosis of Femur Head
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 3 0.300 None 0
CUI: C0426817
Disease: Short ribs
Short ribs
phenotype Finding 60 27 0.100 None 0 1
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 22 3 0.100 None 0
CUI: C1850658
Disease: Irregular femoral epiphysis
Irregular femoral epiphysis
phenotype Finding 3 0.100 None 0
CUI: C1851542
Disease: Limited hip movement
Limited hip movement
phenotype Finding 10 2 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face
phenotype Finding 83 7 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease Musculoskeletal Diseases Finding 210 32 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone
phenotype Finding 42 19 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies
phenotype Finding 25 0.100 None 0
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip
phenotype Finding 13 4 0.100 None 0 1
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 1
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 112 18 0.100 None 0 1
CUI: C0426789
Disease: Short thorax
Short thorax
phenotype Finding 51 8 0.100 None 0
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained
phenotype Finding 4 4 0.100 None 0 1
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype Finding 91 16 0.100 None 0 1
CUI: C0410632
Disease: Schmorl's nodes
Schmorl's nodes
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 11 2 0.100 None 0