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: 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: 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: 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: C1856742
Disease: Malaligned carpal bone
Malaligned carpal bone 		phenotype Finding 1 0.100 None 0
CUI: C1856746
Disease: Deformed tarsal bones
Deformed tarsal bones 		phenotype Finding 1 0.100 None 0
CUI: C1860111
Disease: Abnormally shaped carpal bones
Abnormally shaped carpal bones 		phenotype Finding 1 0.100 None 0
CUI: C1860179
Disease: Valgus hand deformity
Valgus hand deformity 		phenotype Finding 1 0.100 None 0
CUI: C3554614
Disease: Ulnar deviation of the 3rd finger
Ulnar deviation of the 3rd finger 		phenotype Finding 1 0.100 None 0
CUI: C4021432
Disease: Triangular shaped proximal phalanx of the 2nd finger
Triangular shaped proximal phalanx of the 2nd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021454
Disease: Triangular epiphysis of the proximal phalanx of the 2nd finger
Triangular epiphysis of the proximal phalanx of the 2nd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021455
Disease: Enlarged epiphysis of the proximal phalanx of the 2nd finger
Enlarged epiphysis of the proximal phalanx of the 2nd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021469
Disease: Short 3rd finger
Short 3rd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021474
Disease: Short middle phalanx of the 3rd finger
Short middle phalanx of the 3rd finger 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4021480
Disease: Pseudoepiphyses of the 3rd finger
Pseudoepiphyses of the 3rd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021487
Disease: Triangular epiphysis of the proximal phalanx of the 3rd finger
Triangular epiphysis of the proximal phalanx of the 3rd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021488
Disease: Enlarged epiphysis of the proximal phalanx of the 3rd finger
Enlarged epiphysis of the proximal phalanx of the 3rd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021490
Disease: Triangular epiphysis of the middle phalanx of the 3rd finger
Triangular epiphysis of the middle phalanx of the 3rd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021497
Disease: Short middle phalanx of the 4th finger
Short middle phalanx of the 4th finger 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4023122
Disease: Hypersegmentation of proximal phalanx of third finger
Hypersegmentation of proximal phalanx of third finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4024310
Disease: Triangular epiphysis of the middle phalanx of the 2nd finger
Triangular epiphysis of the middle phalanx of the 2nd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4024317
Disease: Enlarged epiphysis of the middle phalanx of the 2nd finger
Enlarged epiphysis of the middle phalanx of the 2nd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4024349
Disease: Triangular shaped proximal phalanx of the 3rd finger
Triangular shaped proximal phalanx of the 3rd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4024362
Disease: Triangular shaped middle phalanx of the 3rd finger
Triangular shaped middle phalanx of the 3rd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4024441
Disease: Enlarged epiphysis of the middle phalanx of the 3rd finger
Enlarged epiphysis of the middle phalanx of the 3rd finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025080
Disease: Hypersegmentation of proximal phalanx of second finger
Hypersegmentation of proximal phalanx of second finger 		disease Anatomical Abnormality 1 0.100 None 0