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: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.040 None 1.000 4 2004 2005
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 1987 2017
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: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.020 None 1.000 2 2018 2019
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: 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: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 32 1 0.010 None 1.000 1 2005 2005
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2019 2019
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: 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: 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: 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: 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: C0031111
Disease: Periostitis
Periostitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 6 0.010 None < 0.001 1 1987 1987
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: C0022408
Disease: Arthropathy
Arthropathy 		group Musculoskeletal Diseases Disease or Syndrome 187 10 0.010 None 1.000 1 2016 2016
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None < 0.001 1 2019 2019
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
CUI: C3887526
Disease: OSTEOARTHRITIS SUSCEPTIBILITY 2
OSTEOARTHRITIS SUSCEPTIBILITY 2 		phenotype Finding 1 0.300 None 1.000 1 2005 2005
CUI: C0033999
Disease: Pterygium
Pterygium 		disease Eye Diseases Disease or Syndrome 216 5 0.010 None 1.000 1 2018 2018
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 99 2 0.010 None 1.000 1 2017 2017
CUI: C0015302
Disease: External exotoses
External exotoses 		disease Musculoskeletal Diseases Disease or Syndrome 109 0.010 None 1.000 1 2006 2006