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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C0566888
Disease: Narrow sacrosciatic notch
Narrow sacrosciatic notch 		phenotype Finding 10 0.100 None 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		phenotype Finding 7 0.100 None 0
CUI: C0544755
Disease: Genu varum
Genu varum 		phenotype Musculoskeletal Diseases Finding 60 6 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 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: C0521770
Disease: Asteroid hyalosis
Asteroid hyalosis 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		phenotype Finding 14 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.100 None 0 1
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		phenotype Finding 16 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0 1
CUI: C1862102
Disease: BRACHYDACTYLY, TYPE E1
BRACHYDACTYLY, TYPE E1 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 5 3 0.100 None 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.100 None 0
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 5 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype Finding 112 18 0.100 None 0 1
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 18 2 0.100 None 0
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease Musculoskeletal Diseases Congenital Abnormality 24 0.100 None 0
CUI: C0263870
Disease: Narrowing of intervertebral disc space
Narrowing of intervertebral disc space 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 4 1 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 5 0.100 None 0