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: C3150834
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0349578
Disease: Complex Endometrial Hyperplasia
Complex Endometrial Hyperplasia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 7 0.300 None 1.000 1 2012 2012
CUI: C0456483
Disease: Simple Endometrial Hyperplasia
Simple Endometrial Hyperplasia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 8 0.300 None 1.000 1 2012 2012
CUI: C0265553
Disease: Polysyndactyly
Polysyndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 1 0.100 None 0 1
CUI: C0220624
Disease: Adult Brain Neoplasm
Adult Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 15 0.010 None 1.000 1 2007 2007
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 15 2 0.100 None 0 1
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		phenotype Neoplasms; Stomatognathic Diseases Finding 18 1 0.100 None 0 1
CUI: C0349579
Disease: Atypical Endometrial Hyperplasia
Atypical Endometrial Hyperplasia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 32 0.300 None 1.000 1 2012 2012
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.100 None 0 1
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		phenotype Laboratory Procedure 39 568 0.100 None 1.000 1 4 2011 2011
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 46 17 0.010 None 1.000 1 2017 2017
CUI: C0431128
Disease: Papillary craniopharyngioma
Papillary craniopharyngioma 		disease Neoplasms Neoplastic Process 65 2 0.010 None 1.000 1 2018 2018
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 67 3 0.010 None 1.000 1 2017 2017
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 69 6 0.010 None 1.000 1 1 2009 2009
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2016 2016
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		phenotype Finding 89 111 0.100 None 1.000 1 1 2016 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 95 187 0.020 None 0.500 2 2017 2017
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		phenotype Laboratory Procedure 135 624 0.100 None 1.000 1 2 2016 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C0014173
Disease: Endometrial Hyperplasia
Endometrial Hyperplasia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 143 6 0.300 None 1.000 1 2012 2012
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.010 None 1.000 1 2017 2017
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.010 None 1.000 1 2017 2017
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 180 5 0.010 None 1.000 1 2018 2018
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.010 None 1.000 1 2015 2015
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.010 None 1.000 1 2015 2015