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: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2019 2019
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2017 2017
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.010 None 1.000 1 2008 2008
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.010 None 1.000 1 2016 2016
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		group Disease or Syndrome 62 2 0.010 None 1.000 1 2013 2013
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney 		disease Congenital Abnormality 15 1 0.100 None 0
CUI: C0238210
Disease: Malrotation of kidney
Malrotation of kidney 		disease Congenital Abnormality 8 1 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1970617
Disease: Hypoplastic spleen
Hypoplastic spleen 		phenotype Finding 2 0.100 None 0
CUI: C1970625
Disease: Hypoplastic left atrium
Hypoplastic left atrium 		phenotype Finding 1 0.100 None 0
CUI: C1970630
Disease: Agenesis of pulmonary vessels
Agenesis of pulmonary vessels 		phenotype Finding 1 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3274516
Disease: Single Ventricle Defect
Single Ventricle Defect 		disease Congenital Abnormality 20 5 0.100 None 0
CUI: C3540845
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4021610
Disease: Bilateral lung agenesis
Bilateral lung agenesis 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4021968
Disease: Aplasia/Hypoplasia of the pancreas
Aplasia/Hypoplasia of the pancreas 		phenotype Finding 5 0.100 None 0
CUI: C4025695
Disease: Right aortic arch with mirror image branching
Right aortic arch with mirror image branching 		disease Anatomical Abnormality 7 0.100 None 0
CUI: C4476761
Disease: Abnormal spleen morphology
Abnormal spleen morphology 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4538849
Disease: Multilobulated spleen
Multilobulated spleen 		phenotype Finding 1 0.100 None 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2007 2007
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 106 40 0.100 None 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.050 None 1.000 5 2007 2016