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: 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: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
disease Neoplasms Neoplastic Process 504 42 0.300 None 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.300 None 0 1
CUI: C1261473
Disease: Sarcoma
Sarcoma
group Neoplasms Neoplastic Process 853 42 0.100 None 0
CUI: C1848453
Disease: Poor motor coordination
Poor motor coordination
phenotype Finding 6 1 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
Disproportionate short-limb short stature
phenotype Finding 35 5 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1850259
Disease: Short tibia
Short tibia
phenotype Finding 17 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
phenotype Finding 49 2 0.100 None 0
CUI: C1855091
Disease: Short proximal phalanx of thumb
Short proximal phalanx of thumb
phenotype Finding 2 0.100 None 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones
phenotype Congenital Abnormality 63 5 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: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility
phenotype Finding 84 3 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype Finding 146 7 0.100 None 0
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger
phenotype Finding 20 2 0.100 None 0
CUI: C1844891
Disease: Ulnar deviation of the 2nd finger
Ulnar deviation of the 2nd finger
phenotype Finding 6 1 0.100 None 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia
phenotype Finding 16 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: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype Finding 31 0.100 None 0
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia
phenotype Finding 9 0.100 None 0
CUI: C1836187
Disease: Widened proximal tibial metaphyses
Widened proximal tibial metaphyses
phenotype Finding 1 0.100 None 0
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger
phenotype Finding 42 0.100 None 0
Aplasia/Hypoplasia involving the metacarpal bones
phenotype Finding 7 0.100 None 0