MATN3, matrilin 3, 4148

N. diseases: 79; N. variants: 13
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 0.500 strong 1.000 16 1 2001 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.500 None 1.000 12 1 2002 2018
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 10 0.910 None 1.000 10 10 2001 2019
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		disease Musculoskeletal Diseases Disease or Syndrome 61 21 0.070 None 1.000 7 1 2003 2015
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 1 0.040 None 1.000 4 2005 2015
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 16 0.030 None 1.000 3 2005 2012
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 37 2 0.120 None 1.000 2 2013 2015
CUI: C1837481
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.600 None 1.000 2 1 2004 2005
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease Neoplasms Neoplastic Process 385 8 0.010 None 1.000 1 2008 2008
CUI: C0015302
Disease: External exotoses
External exotoses 		disease Musculoskeletal Diseases Disease or Syndrome 109 0.010 None 1.000 1 2006 2006
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2018 2018
CUI: C0031111
Disease: Periostitis
Periostitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 6 0.010 None < 0.001 1 1987 1987
CUI: C0033999
Disease: Pterygium
Pterygium 		disease Eye Diseases Disease or Syndrome 216 5 0.010 None 1.000 1 2018 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2019 2019
CUI: C0157946
Disease: Osteoarthrosis, localized, not specified whether primary or secondary
Osteoarthrosis, localized, not specified whether primary or secondary 		disease Musculoskeletal Diseases Disease or Syndrome 28 0.200 None 1.000 1 2006 2006
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 342 47 0.010 None 1.000 1 1 2006 2006
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 29 116 0.010 None 1.000 1 2018 2018
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.010 None 1.000 1 2018 2018
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal 		disease Eye Diseases Disease or Syndrome 34 28 0.010 None 1.000 1 2018 2018
CUI: C0409956
Disease: Osteoarthrosis of the carpometacarpal joint of the thumb
Osteoarthrosis of the carpometacarpal joint of the thumb 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C1704356
Disease: Enchondroma
Enchondroma 		disease Neoplasms Neoplastic Process 41 13 0.010 None 1.000 1 2008 2008
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea 		disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2018 2018
CUI: C1956089
Disease: Osteophyte
Osteophyte 		disease Musculoskeletal Diseases Disease or Syndrome 91 0.010 None 1.000 1 2006 2006
CUI: C2931073
Disease: Collagenopathy, type 2 alpha 1
Collagenopathy, type 2 alpha 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2010 2010
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye 		disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2018 2018