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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease Congenital Abnormality 85 16 0.100 None 0
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		phenotype Finding 3 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: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease Anatomical Abnormality 40 3 0.100 None 0
CUI: C4025675
Disease: Abnormality of the radius
Abnormality of the radius 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype Anatomical Abnormality 14 0.100 None 0
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease Anatomical Abnormality 13 2 0.100 None 0
CUI: C1860111
Disease: Abnormally shaped carpal bones
Abnormally shaped carpal bones 		phenotype Finding 1 0.100 None 0
CUI: C3553754
Disease: Absent toe
Absent toe 		disease Congenital Abnormality 8 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: C1864365
Disease: Acromesomelia
Acromesomelia 		phenotype Finding 5 0.100 None 0
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: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		disease Musculoskeletal Diseases Disease or Syndrome 5 17 0.010 None 1.000 1 1998 1998
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: C0409477
Disease: Ankylosis of the elbow joint
Ankylosis of the elbow joint 		disease Musculoskeletal Diseases Disease or Syndrome 7 0.100 None 0
CUI: C4022107
Disease: Aplasia of the middle phalanges of the toes
Aplasia of the middle phalanges of the toes 		phenotype Finding 2 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: C1860182
Disease: Aplasia/Hypoplasia of metatarsal bones
Aplasia/Hypoplasia of metatarsal bones 		phenotype Finding 3 0.100 None 0
CUI: C4024098
Disease: Aplasia/Hypoplasia of the 1st metacarpal
Aplasia/Hypoplasia of the 1st metacarpal 		phenotype Finding 2 0.100 None 0
CUI: C1856732
Disease: Aplasia/Hypoplasia of the fibula
Aplasia/Hypoplasia of the fibula 		phenotype Finding 5 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
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: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb 		phenotype Musculoskeletal Diseases Finding 22 1 0.100 None 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		phenotype Finding 23 1 0.100 None 0