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: C0341117
Disease: Esophageal erosions
Esophageal erosions 		disease Digestive System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1836023
Disease: Drug Metabolism, Poor, CYP2C19-Related
Drug Metabolism, Poor, CYP2C19-Related 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0021296
Disease: Infant, Small for Gestational Age
Infant, Small for Gestational Age 		phenotype Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0149821
Disease: ACUTE ALCOHOL WITHDRAWAL
ACUTE ALCOHOL WITHDRAWAL 		disease Disease or Syndrome 4 0.010 None 1.000 1 2016 2016
CUI: C4324584
Disease: Periprocedural myocardial infarction
Periprocedural myocardial infarction 		disease Disease or Syndrome 6 1 0.020 None 1.000 2 2012 2016
CUI: C1955743
Disease: Mineralocorticoid deficiency
Mineralocorticoid deficiency 		disease Endocrine System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2016 2016
CUI: C3494522
Disease: Hypergonadotropic Ovarian Failure, X-Linked
Hypergonadotropic Ovarian Failure, X-Linked 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2004 2004
CUI: C1844680
Disease: DEAFNESS-HYPOGONADISM SYNDROME
DEAFNESS-HYPOGONADISM SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C4552079
Disease: Premature Ovarian Failure 1
Premature Ovarian Failure 1 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 7 2 0.300 None 1.000 1 2004 2004
CUI: C0086367
Disease: Gonadotropin-Resistant Ovary Syndrome
Gonadotropin-Resistant Ovary Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 9 4 0.300 None 1.000 1 2004 2004
CUI: C3203672
Disease: CYP2C19 polymorphism
CYP2C19 polymorphism 		disease Disease or Syndrome 10 4 0.050 None 0.800 5 3 2003 2016
CUI: C0861155
Disease: Rhinoconjunctivitis
Rhinoconjunctivitis 		disease Eye Diseases Disease or Syndrome 14 16 0.010 None 1.000 1 2015 2015
CUI: C3696962
Disease: Coronary microvascular dysfunction
Coronary microvascular dysfunction 		disease Cardiovascular Diseases Disease or Syndrome 14 0.010 None 1.000 1 2016 2016
CUI: C0333291
Disease: Bleeding ulcer
Bleeding ulcer 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 1 0.010 None 1.000 1 2014 2014
CUI: C4699508
Disease: Cardioembolism (high-risk/medium-risk)
Cardioembolism (high-risk/medium-risk) 		disease Disease or Syndrome 16 4 0.010 None 1.000 1 2019 2019
CUI: C2242528
Disease: Non-erosive reflux disease
Non-erosive reflux disease 		disease Disease or Syndrome 17 0.010 None 1.000 1 2016 2016
CUI: C0020595
Disease: Hypoaldosteronism
Hypoaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 18 0.010 None 1.000 1 2016 2016
CUI: C0242429
Disease: Sore Throat
Sore Throat 		phenotype Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Sign or Symptom 18 2 0.010 None 1.000 1 2013 2013
CUI: C1394891
Disease: Intrinsic Factor Deficiency
Intrinsic Factor Deficiency 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 18 6 0.010 None 1.000 1 2015 2015
CUI: C1536221
Disease: Non ST segment elevation myocardial infarction
Non ST segment elevation myocardial infarction 		disease Disease or Syndrome 18 0.010 None 1.000 1 2010 2010
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 3 0.010 None 1.000 1 2017 2017
CUI: C0024586
Disease: Malignant Carcinoid Syndrome
Malignant Carcinoid Syndrome 		disease Neoplasms Disease or Syndrome 25 0.010 None 1.000 1 2019 2019
CUI: C0031350
Disease: Pharyngitis
Pharyngitis 		disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 30 0.010 None 1.000 1 2013 2013
CUI: C0085635
Disease: Photopsia
Photopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 0.010 None 1.000 1 2008 2008
CUI: C0014742
Disease: Erythema Multiforme
Erythema Multiforme 		disease Skin and Connective Tissue Diseases Disease or Syndrome 38 2 0.020 None 1.000 2 2010 2012