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: C0027019
Disease: Myelomonocytic leukemia
Myelomonocytic leukemia
disease Neoplastic Process 30 0.300 0
Dysembryoplastic neuroepithelial tumor
disease Neoplastic Process 8 1 0.300 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital Abnormality 63 1 0.100 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 104 0.100 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing
phenotype Finding 25 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 107 0.100 0
CUI: C1834386
Disease: Hypoplasia of first ribs
Hypoplasia of first ribs
disease Congenital Abnormality 3 0.100 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 66 0.100 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 282 4 0.100 0
CUI: C1840418
Disease: Thickened cortex of long bones
Thickened cortex of long bones
phenotype Finding 6 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1844505
Disease: Pointed chin
Pointed chin
phenotype Finding 49 3 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C1848654
Disease: Broad ribs
Broad ribs
phenotype Finding 15 0.100 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora
phenotype Finding 28 0.100 0
Widely patent fontanelles and sutures
phenotype Finding 14 0.100 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
disease Congenital Abnormality 179 17 0.100 0
CUI: C1398312
Disease: Narrow palate
Narrow palate
phenotype Finding 29 0.100 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
phenotype Finding 32 2 0.100 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
disease Congenital Abnormality 76 3 0.100 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple
disease Congenital Abnormality 25 0.100 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 203 1 0.100 0
CUI: C0521618
Disease: Stenosis of ureter
Stenosis of ureter
phenotype Anatomical Abnormality 3 0.100 0