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: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C0022408
Disease: Arthropathy
Arthropathy 		group Musculoskeletal Diseases Disease or Syndrome 187 10 0.010 None 1.000 1 2016 2016
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		group Musculoskeletal Diseases Disease or Syndrome 317 10 0.010 None 1.000 1 2007 2007
CUI: C1849016
Disease: Broad femoral neck
Broad femoral neck 		phenotype Finding 7 0.100 None 0
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: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease Neoplasms Neoplastic Process 385 8 0.010 None 1.000 1 2008 2008
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 32 1 0.010 None 1.000 1 2005 2005
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: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
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: C1841684
Disease: Delayed ossification of carpal bones
Delayed ossification of carpal bones 		phenotype Finding 12 0.100 None 0
CUI: C1846853
Disease: Delayed tarsal ossification
Delayed tarsal ossification 		phenotype Finding 2 0.100 None 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 1.000 1 2005 2005
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype Finding 35 5 0.100 None 0
CUI: C1837487
Disease: Dysplastic iliac wings
Dysplastic iliac wings 		phenotype Finding 1 0.100 None 0
CUI: C1704356
Disease: Enchondroma
Enchondroma 		disease Neoplasms Neoplastic Process 41 13 0.010 None 1.000 1 2008 2008
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		phenotype Finding 7 0.100 None 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.100 None 0
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: C0015302
Disease: External exotoses
External exotoses 		disease Musculoskeletal Diseases Disease or Syndrome 109 0.010 None 1.000 1 2006 2006
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		phenotype Finding 21 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face 		phenotype Finding 83 7 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0