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: C4021399
Disease: Finger symphalangism
Finger symphalangism 		disease Anatomical Abnormality 2 1 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C2930865
Disease: Ramer Ladda syndrome
Ramer Ladda syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 10 2 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0
CUI: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb 		phenotype Musculoskeletal Diseases Finding 22 1 0.100 None 0
CUI: C1969397
Disease: Short 2nd metacarpal
Short 2nd metacarpal 		phenotype Finding 3 0.100 None 0
CUI: C1832117
Disease: Short humerus
Short humerus 		phenotype Congenital Abnormality 24 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 0.100 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype Finding 23 0.100 None 0
CUI: C1836192
Disease: Aplasia/Hypoplasia involving the metacarpal bones
Aplasia/Hypoplasia involving the metacarpal bones 		phenotype Finding 7 0.100 None 0
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia 		phenotype Finding 9 0.100 None 0
CUI: C1834060
Disease: Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger 		phenotype Finding 17 0.100 None 0
CUI: C1834034
Disease: Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Aplasia/Hypoplasia of the middle phalanx of the 5th finger 		phenotype Finding 5 0.100 None 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 20 1 0.100 None 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype Finding 16 0.100 None 0
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.100 None 0
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease Anatomical Abnormality 67 2 0.100 None 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		phenotype Finding 23 1 0.100 None 0
CUI: C4021390
Disease: Symphalangism affecting the phalanges of the hand
Symphalangism affecting the phalanges of the hand 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 92 11 0.100 None 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		disease Musculoskeletal Diseases Congenital Abnormality 49 3 0.100 None 0