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: 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: C3887526
Disease: OSTEOARTHRITIS SUSCEPTIBILITY 2
OSTEOARTHRITIS SUSCEPTIBILITY 2 		phenotype Finding 1 0.300 None 1.000 1 2005 2005
CUI: C1837487
Disease: Dysplastic iliac wings
Dysplastic iliac wings 		phenotype Finding 1 0.100 None 0
CUI: C4275060
Disease: Multiple epiphyseal dysplasia type 5
Multiple epiphyseal dysplasia type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 strong 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: 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: C1846853
Disease: Delayed tarsal ossification
Delayed tarsal ossification 		phenotype Finding 2 0.100 None 0
CUI: C0341035
Disease: Temporomandibular joint internal derangement
Temporomandibular joint internal derangement 		phenotype Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 3 0.010 None 1.000 1 2016 2016
CUI: C1832988
Disease: Metaphyseal spurs
Metaphyseal spurs 		phenotype Finding 4 2 0.100 None 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping 		phenotype Finding 5 0.100 None 0
CUI: C0031111
Disease: Periostitis
Periostitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 6 0.010 None < 0.001 1 1987 1987
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: C1849016
Disease: Broad femoral neck
Broad femoral neck 		phenotype Finding 7 0.100 None 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		phenotype Finding 7 0.100 None 0
CUI: C0018862
Disease: Heberden node
Heberden node 		phenotype Musculoskeletal Diseases Disease or Syndrome 8 1 0.100 None 0
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 8 0.100 None 0
CUI: C1836688
Disease: Narrow iliac wings
Narrow iliac wings 		phenotype Finding 8 0.100 None 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		phenotype Finding 10 0.100 None 0
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		phenotype Finding 11 0.100 None 0
CUI: C1841684
Disease: Delayed ossification of carpal bones
Delayed ossification of carpal bones 		phenotype Finding 12 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: 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: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		phenotype Finding 21 0.100 None 0
CUI: C0019559
Disease: Hip joint pain
Hip joint pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 24 0.100 None 0