GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
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: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 8 1.000 None 0.923 13 5 1989 2016
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 3 0.970 None 1.000 10 2 1989 2017
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 6 8 0.950 None 1.000 7 2 1989 2012
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 4 0.920 None 1.000 4 3 1989 2008
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 3 0.910 None 1.000 5 3 1989 2013
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		disease Disease or Syndrome 3 1 0.900 None 1.000 2 1 2010 2013
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 5 0.810 None 1.000 3 1989 2017
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		disease Disease or Syndrome 3 3 0.700 None 1.000 3 3 2005 2008
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 15 0.510 strong 1.000 3 2 1989 2013
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.500 None 0.923 13 2 2008 2019
CUI: C1300268
Disease: Brachydactyly syndrome type C
Brachydactyly syndrome type C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 0.500 None 1.000 1 2002 2002
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 4 0.500 None 1.000 1 2006 2006
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		disease Musculoskeletal Diseases Disease or Syndrome 4 1 0.440 None 1.000 5 1 2006 2017
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		disease Musculoskeletal Diseases Disease or Syndrome 164 121 0.420 None 1.000 2 1 2007 2014
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.400 None 0.960 50 2 2007 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.400 strong 0
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		disease Musculoskeletal Diseases Disease or Syndrome 5 12 0.370 strong 1.000 8 2 1989 2019
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 5 2 0.330 None 1.000 3 2006 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.310 None 1.000 2 2008 2008
CUI: C1739384
Disease: Angel shaped phalangoepiphyseal dysplasia
Angel shaped phalangoepiphyseal dysplasia 		disease Musculoskeletal Diseases Congenital Abnormality 1 0.310 None 1.000 2 2004 2012
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 2 2008 2019
CUI: C1306065
Disease: DEVELOPMENTAL DYSPLASIA OF THE HIP 1
DEVELOPMENTAL DYSPLASIA OF THE HIP 1 		disease Congenital Abnormality 1 0.300 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 0
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.230 None 1.000 4 2012 2017
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 2007 2007