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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.170 None 1.000 7 7 2005 2016
CUI: C4225365
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 		disease Disease or Syndrome 1 5 0.610 None 1.000 5 5 2011 2017
CUI: C4321446
Disease: K ATP Permanent Neonatal Diabetes
K ATP Permanent Neonatal Diabetes 		disease Disease or Syndrome 8 2 0.050 None 1.000 5 1 2005 2010
CUI: C0342273
Disease: Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus 		disease Disease or Syndrome 23 0.130 None 1.000 3 2008 2012
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 3 2 2017 2019
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.020 None 1.000 2 2003 2013
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2018 2018
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		phenotype Finding 146 344 0.100 None 1.000 1 1 2016 2016
CUI: C0745153
Disease: Hypoglycaemic episode
Hypoglycaemic episode 		disease Disease or Syndrome 8 2 0.010 None 1.000 1 1 2017 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2016 2016
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
[D]Sleep disturbances (& [hypersomnia] or [insomnia]) 		phenotype Sign or Symptom 69 23 0.010 None 1.000 1 2017 2017
CUI: C1504532
Disease: Post transplant diabetes mellitus
Post transplant diabetes mellitus 		disease Disease or Syndrome 21 11 0.010 None < 0.001 1 2017 2017
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger 		phenotype Finding 42 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance 		phenotype Finding 15 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells 		phenotype Finding 7 0.100 None 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype Finding 39 2 0.100 None 0
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		phenotype Finding 12 3 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype Anatomical Abnormality 122 14 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype Finding 87 0.100 None 0
CUI: C1969875
Disease: Beta-cell dysfunction
Beta-cell dysfunction 		phenotype Finding 6 0.100 None 0
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture 		phenotype Finding 10 1 0.100 None 0