COL9A1, collagen type IX alpha 1 chain, 1297

N. diseases: 116; N. variants: 24
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: C2675767
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 		disease Disease or Syndrome 1 0.500 None 1.000 2 2001 2006
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV 		disease Disease or Syndrome 1 2 0.600 None 1.000 2 2 2001 2006
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		disease Mental or Behavioral Dysfunction 108 21 0.010 None 1.000 1 2019 2019
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 14 2013 2013
CUI: C0877430
Disease: Asthma chronic
Asthma chronic 		disease Disease or Syndrome 36 0.010 None 1.000 1 2018 2018
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		disease Anatomical Abnormality 11 5 0.010 None 1.000 1 2013 2013
CUI: C3160814
Disease: Cannabis use
Cannabis use 		disease Mental or Behavioral Dysfunction 74 44 0.010 None 1.000 1 2019 2019
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		disease Disease or Syndrome 20 6 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype Finding 56 0.100 None 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype Finding 24 2 0.100 None 0
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis 		phenotype Finding 11 0.100 None 0
CUI: C1843486
Disease: Degenerative vitreoretinopathy
Degenerative vitreoretinopathy 		disease Disease or Syndrome 2 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		phenotype Finding 15 0.100 None 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		phenotype Finding 15 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face 		phenotype Finding 83 7 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 84 3 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
CUI: C4020825
Disease: Irregular capital femoral epiphysis
Irregular capital femoral epiphysis 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4021599
Disease: Flat distal femoral epiphysis
Flat distal femoral epiphysis 		disease Anatomical Abnormality 1 0.100 None 0