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: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.400 strong 0
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: 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
Symphalangism-brachydactyly syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.200 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones
phenotype Finding 23 0.100 None 0
CUI: C1261473
Disease: Sarcoma
Sarcoma
group Neoplasms Neoplastic Process 853 42 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: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 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: C1969397
Disease: Short 2nd metacarpal
Short 2nd metacarpal
phenotype Finding 3 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: C1867131
Disease: Broad hallux
Broad hallux
phenotype Finding 48 14 0.100 None 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
disease Congenital Abnormality 57 6 0.100 None 0
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
phenotype Finding 5 0.100 None 0
Short middle phalanx of the 5th finger
phenotype Finding 17 0.100 None 0
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia
phenotype Finding 9 0.100 None 0
Aplasia/Hypoplasia involving the metacarpal bones
phenotype Finding 7 0.100 None 0
CUI: C1832117
Disease: Short humerus
Short humerus
phenotype Congenital Abnormality 24 0.100 None 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 1 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C0410740
Disease: Acquired deformity of finger
Acquired deformity of finger
disease Musculoskeletal Diseases Acquired Abnormality 5 0.100 None 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose
phenotype Finding 87 1 0.100 None 0