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: C0015697
Disease: Arterial Fatty Streak
Arterial Fatty Streak 		phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 5 0.300 None 1.000 1 2018 2018
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.010 None 1.000 1 2007 2007
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2016 2016
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		disease Acquired Abnormality 115 15 0.010 None 1.000 1 2018 2018
CUI: C2936351
Disease: Fibroatheroma
Fibroatheroma 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 8 0.300 None 1.000 1 2018 2018
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.010 None 1.000 1 2018 2018
CUI: C0031094
Disease: Periodontal Pocket
Periodontal Pocket 		disease Stomatognathic Diseases Anatomical Abnormality 28 0.010 None 1.000 1 2017 2017
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0596028
Disease: Overjet, Dental
Overjet, Dental 		phenotype Stomatognathic Diseases Anatomical Abnormality 4 0.010 None 1.000 1 2018 2018
CUI: C0597984
Disease: Biliary stricture
Biliary stricture 		disease Digestive System Diseases Anatomical Abnormality 17 0.010 None 1.000 1 2019 2019
CUI: C1285498
Disease: Vegetation
Vegetation 		disease Anatomical Abnormality 67 0.010 None 1.000 1 2017 2017
CUI: C1305740
Disease: Overbite
Overbite 		disease Stomatognathic Diseases Anatomical Abnormality 13 5 0.010 None 1.000 1 2018 2018
CUI: C2936350
Disease: Plaque, Atherosclerotic
Plaque, Atherosclerotic 		phenotype Pathological Conditions, Signs and Symptoms Body Substance 5 0.300 None 1.000 1 2018 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.070 None 1.000 7 1997 2014
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 1.000 2 2017 2018
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.010 None 1.000 1 1 2012 2012
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 54 26 0.010 None 1.000 1 2013 2013
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.010 None 1.000 1 2006 2006
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.010 None 1.000 1 2012 2012
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 62 0.010 None 1.000 1 2013 2013
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.010 None 1.000 1 2012 2012
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.100 None 0.963 27 3 2002 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.400 None 1.000 14 2010 2020
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 1.000 12 2014 2020
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.100 None 1.000 11 7 2004 2017