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: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 3 3 2018 2019
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12
disease Disease or Syndrome 1 1 0.700 None 1.000 2 1 2015 2016
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2015 2015
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
Elevated maternal serum alpha-fetoprotein
phenotype Laboratory or Test Result 5 1 0.100 None 0 1
CUI: C1820737
Disease: Temperature instability
Temperature instability
phenotype Finding 12 8 0.100 None 0
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility
phenotype Finding 28 13 0.100 None 0 1
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0 1
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype Finding 50 25 0.100 None 0 1
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia
phenotype Finding 21 5 0.100 None 0 1
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation
phenotype Finding 14 2 0.100 None 0
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia
phenotype Finding 12 2 0.100 None 0 1
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
phenotype Finding 29 6 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination
disease Anatomical Abnormality 21 4 0.100 None 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype Finding 160 246 0.100 None 0 1
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.010 None 1.000 1 1997 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None < 0.001 1 2017 2017