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: C4551826
Disease: Symphalangism-brachydactyly syndrome
Symphalangism-brachydactyly syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.200 None 0
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 3 0.200 None 0
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: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.110 None 1.000 1 2008 2008
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.110 None 1.000 1 2017 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.110 None 1.000 1 2008 2008
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.110 None 1.000 1 2009 2009
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 7 3 2010 2019
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 3 3 2008 2013
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 2 1 2019 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 2 1 2018 2019
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0231749
Disease: Knee pain
Knee pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 38 6 0.100 None 1.000 1 2 2019 2019
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		phenotype Laboratory Procedure 62 522 0.100 None 1.000 1 4 2010 2010
CUI: C0562350
Disease: Hip circumference
Hip circumference 		phenotype Clinical Attribute 68 116 0.100 None 1.000 1 1 2015 2015
CUI: C0424678
Disease: Lean body mass
Lean body mass 		phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		phenotype Laboratory Procedure 62 522 0.100 None 1.000 1 4 2010 2010
CUI: C0455806
Disease: Infant length
Infant length 		phenotype Finding 10 14 0.100 None 1.000 1 1 2015 2015
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		phenotype Laboratory Procedure 74 119 0.100 None 1.000 1 1 2019 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2019 2019
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
CUI: C1840555
Disease: Hip Dysplasia, Congenital, Nonsyndromic
Hip Dysplasia, Congenital, Nonsyndromic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.100 None 1.000 1 1 2018 2018
CUI: C0005910
Disease: Body Weight
Body Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 57 92 0.100 None 1.000 1 1 2017 2017
CUI: C1862142
Disease: Short 2nd finger
Short 2nd finger 		phenotype Finding 7 0.100 None 0
CUI: C1862144
Disease: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 		phenotype Finding 5 0.100 None 0