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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 13 3 1990 2016
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.080 None 1.000 8 2010 2019
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: C0395866
Disease: Recurrent acute otitis media
Recurrent acute otitis media
disease Disease or Syndrome 11 0.030 None 1.000 3 2013 2018
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration
disease Disease or Syndrome 20 6 0.120 None 1.000 2 2003 2013
CUI: C4477006
Disease: Membranous vitreous appearance
Membranous vitreous appearance
phenotype Anatomical Abnormality 1 0.120 None 1.000 2 2006 2010
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2018 2018
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2016 2016
CUI: C1260954
Disease: Morphologically altered structure
Morphologically altered structure
disease Anatomical Abnormality 46 0.010 None 1.000 1 2013 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1995 1995
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
disease Disease or Syndrome 34 3 0.010 None 1.000 1 2018 2018
CUI: C3899646
Disease: Childhood Pilomyxoid Astrocytoma
Childhood Pilomyxoid Astrocytoma
disease Neoplastic Process 10 2 0.010 None 1.000 1 2015 2015
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen
disease Anatomical Abnormality 1 0.010 None 1.000 1 2003 2003
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2019 2019
CUI: C4073118
Disease: Optically empty vitreous
Optically empty vitreous
disease Anatomical Abnormality 2 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
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
disease Disease or Syndrome 2 1 0.300 None 1.000 1 2005 2005
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters
phenotype Finding 4 1 0.100 None 0 1
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239479
Disease: Round face
Round face
phenotype Finding 88 3 0.100 None 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease Congenital Abnormality 113 5 0.100 None 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0 1
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 123 13 0.100 None 0 1