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: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 1.000 1 1 2018 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 1 1 2018 2018
CUI: C1856732
Disease: Aplasia/Hypoplasia of the fibula
Aplasia/Hypoplasia of the fibula 		phenotype Finding 5 0.100 None 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype Finding 65 1 0.100 None 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 50 0.100 None 0
CUI: C1860606
Disease: Short proximal phalanx of finger
Short proximal phalanx of finger 		phenotype Congenital Abnormality 3 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 84 3 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: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 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: C1842229
Disease: Broad metacarpals
Broad metacarpals 		phenotype Finding 12 0.100 None 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype Finding 39 3 0.100 None 0
CUI: C1844709
Disease: Radial deviation of the 2nd finger
Radial deviation of the 2nd finger 		phenotype Finding 7 1 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: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		phenotype Finding 20 2 0.100 None 0
CUI: C1848453
Disease: Poor motor coordination
Poor motor coordination 		phenotype Finding 6 1 0.100 None 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
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: C1855091
Disease: Short proximal phalanx of thumb
Short proximal phalanx of thumb 		phenotype Finding 2 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype Finding 23 0.100 None 0
CUI: C1862142
Disease: Short 2nd finger
Short 2nd finger 		phenotype Finding 7 0.100 None 0