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: C4054726
Disease: Infant Leukemia
Infant Leukemia
disease Neoplastic Process 23 0.040 1.000 4 2002 2005
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA
disease Neoplastic Process 184 3 0.030 1.000 3 2002 2010
CUI: C4054727
Disease: Infant Acute Lymphoblastic Leukemia
Infant Acute Lymphoblastic Leukemia
disease Neoplastic Process 33 5 0.030 1.000 3 2000 2005
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplastic Process 906 99 0.020 1.000 2 2003 2003
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital Abnormality 65 51 0.010 1.000 1 2015 2015
Precursor B-cell lymphoblastic leukemia
disease Neoplastic Process 366 18 0.010 1.000 1 2003 2003
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME
disease Disease or Syndrome 1 3 0.710 1.000 1 3 2015 2015
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.100 0
CUI: C0239479
Disease: Round face
Round face
phenotype Finding 65 0.100 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0426414
Disease: Small nose
Small nose
phenotype Finding 175 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease
group Disease or Syndrome 58 7 0.100 0
CUI: C1837760
Disease: Prominent eyes
Prominent eyes
phenotype Finding 136 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C1848490
Disease: Protruding eyes
Protruding eyes
phenotype Finding 136 0.100 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype Finding 73 2 0.100 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
phenotype Finding 56 4 0.100 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 178 4 0.100 0
CUI: C1856468
Disease: Round, full face
Round, full face
phenotype Finding 65 1 0.100 0
CUI: C1862425
Disease: Prominent globes
Prominent globes
phenotype Finding 138 2 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
phenotype Anatomical Abnormality 84 1 0.100 0