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: 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
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: 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: C3887526
Disease: OSTEOARTHRITIS SUSCEPTIBILITY 2
OSTEOARTHRITIS SUSCEPTIBILITY 2
phenotype Finding 1 0.300 None 1.000 1 2005 2005
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: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 0
Multiple epiphyseal dysplasia type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 strong 0
Osteoarthrosis, localized, not specified whether primary or secondary
disease Musculoskeletal Diseases Disease or Syndrome 28 0.200 None 1.000 1 2006 2006
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: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype Finding 34 0.100 None 0
CUI: C1837487
Disease: Dysplastic iliac wings
Dysplastic iliac wings
phenotype Finding 1 0.100 None 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof
phenotype Finding 21 0.100 None 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping
phenotype Finding 5 0.100 None 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease Congenital Abnormality 32 16 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: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity
disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype Finding 31 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis
disease Musculoskeletal Diseases Disease or Syndrome 8 0.100 None 0
CUI: C1832988
Disease: Metaphyseal spurs
Metaphyseal spurs
phenotype Finding 4 2 0.100 None 0
Hypoplasia of the capital femoral epiphysis
phenotype Finding 11 0.100 None 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension
phenotype Finding 26 2 0.100 None 0