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: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		disease Disease or Syndrome 1 5 0.600 None 1.000 3 5 2005 2015
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 2 2018 2019
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2020 2020
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		disease Disease or Syndrome 1 3 0.700 strong 1.000 1 3 2015 2015
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		phenotype Finding 31 0.100 None 0
CUI: C0239594
Disease: Short finger
Short finger 		phenotype Finding 37 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis 		disease Congenital Abnormality 15 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		phenotype Finding 41 1 0.100 None 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype Finding 16 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: C1834060
Disease: Short middle phalanx of the 5th finger
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
CUI: C1836192
Disease: Aplasia/Hypoplasia involving the metacarpal bones
Aplasia/Hypoplasia involving the metacarpal bones 		phenotype Finding 7 0.100 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype Finding 23 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 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