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: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 1 0.090 None 1.000 9 1996 2016
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: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.130 None 1.000 3 2006 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: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 59 4 0.030 None 1.000 3 2008 2016
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: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 2 2008 2019
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 69 20 0.020 None 0.500 2 2005 2009
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		disease Musculoskeletal Diseases Disease or Syndrome 77 43 0.020 None 1.000 2 2014 2016
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		group Musculoskeletal Diseases Anatomical Abnormality 66 5 0.020 None 1.000 2 2005 2009
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: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.020 None 1.000 2 2017 2018
CUI: C0039075
Disease: Syndactyly
Syndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 127 26 0.020 None 1.000 2 2005 2006
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: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype Nervous System Diseases Sign or Symptom 92 6 0.010 None 1.000 1 2018 2018
CUI: C0038018
Disease: Spondylolysis
Spondylolysis 		disease Musculoskeletal Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2011 2011
CUI: C0239399
Disease: Short extremities
Short extremities 		phenotype Congenital Abnormality 38 10 0.010 None 1.000 1 2013 2013
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
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: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 63 12 0.010 None 1.000 1 2014 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2005 2005
CUI: C1384584
Disease: Generalized osteoarthritis
Generalized osteoarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 63 10 0.010 None 1.000 1 2014 2014
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: 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: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.010 None < 0.001 1 2013 2013