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: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 40 7 0.700 limited 1.000 14 2001 2019
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: C2675767
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
disease Disease or Syndrome 1 0.500 None 1.000 2 2001 2006
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.400 None 1.000 1 2006 2006
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.400 strong 1.000 1 2011 2011
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.400 None 1.000 1 2006 2006
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 17 8 0.350 limited 1.000 7 2 2005 2019
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.310 None 1.000 2 2001 2006
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 4 0.300 None 1.000 2 2001 2006
Spondyloepiphyseal Dysplasia Tarda, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 3 0.300 None 1.000 2 2001 2006
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 77 12 0.300 None 1.000 2 2001 2006
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 29 0.300 None 1.000 2 2001 2006
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 24 0.300 None 1.000 2 2001 2006
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 19 0.300 None 1.000 2 2001 2006
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 24 2 0.300 None 1.000 2 2001 2006
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 0.300 None 1.000 1 2006 2006
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.300 None 1.000 1 2006 2006
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
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 0.300 None 0
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.300 limited 0
Osteoarthrosis, localized, not specified whether primary or secondary
disease Musculoskeletal Diseases Disease or Syndrome 28 0.200 None 1.000 1 2001 2001
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.130 None 1.000 3 2000 2014
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 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: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012