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: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 9 0.710 None 1.000 9 9 1989 2018
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.730 None 1.000 8 4 1989 2016
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 4 0.730 None 1.000 7 4 1993 2016
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		disease Disease or Syndrome 1 6 0.710 moderate 1.000 5 6 1991 2016
CUI: C0158564
Disease: Congenital vitreous anomaly
Congenital vitreous anomaly 		disease Congenital Abnormality 1 0.030 None 1.000 3 1996 2010
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 4 0.700 None 1.000 3 4 1998 2012
CUI: C4302548
Disease: Dysspondyloenchondromatosis
Dysspondyloenchondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 1 0.320 None 1.000 3 2011 2015
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2 0.410 None 1.000 2 2 2003 2005
CUI: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.400 None 1.000 2 1 2008 2012
CUI: C4477006
Disease: Membranous vitreous appearance
Membranous vitreous appearance 		phenotype Anatomical Abnormality 1 0.120 None 1.000 2 2006 2010
CUI: C0006262
Disease: Bronchial Fistula
Bronchial Fistula 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Anatomical Abnormality 1 0.200 None 1.000 1 2014 2014
CUI: C0268357
Disease: Osteogenesis imperfecta, type 1A
Osteogenesis imperfecta, type 1A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 1 0.010 None 1.000 1 1985 1985
CUI: C0701825
Disease: Acute mastoiditis
Acute mastoiditis 		disease Infections; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C1866688
Disease: Spondylometaphyseal dysplasia, Algerian type
Spondylometaphyseal dysplasia, Algerian type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen 		disease Anatomical Abnormality 1 0.010 None 1.000 1 2003 2003
CUI: C4286047
Disease: Deforming arthritis
Deforming arthritis 		disease Disease or Syndrome 1 0.010 None 1.000 1 1994 1994
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 1 1 0.100 None 0 1
CUI: C1834953
Disease: Lumbar kyphoscoliosis
Lumbar kyphoscoliosis 		phenotype Finding 1 0.100 None 0
CUI: C1834961
Disease: Flattened, squared-off epiphyses of tubular bones
Flattened, squared-off epiphyses of tubular bones 		phenotype Finding 1 0.100 None 0
CUI: C1835442
Disease: Decreased cranial base ossification
Decreased cranial base ossification 		phenotype Finding 1 0.100 None 0
CUI: C1835444
Disease: Disc-like vertebral bodies
Disc-like vertebral bodies 		phenotype Finding 1 0.100 None 0
CUI: C1835446
Disease: Severe limb shortening
Severe limb shortening 		phenotype Finding 1 0.100 None 0
CUI: C1860191
Disease: Absent vertebral body mineralization
Absent vertebral body mineralization 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4020907
Disease: Metaphyseal dappling
Metaphyseal dappling 		phenotype Finding 1 0.100 None 0
CUI: C4020953
Disease: Abnormality of vertebral epiphysis morphology
Abnormality of vertebral epiphysis morphology 		disease Anatomical Abnormality 1 0.100 None 0