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: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 20 108 1.000 strong 0.984 61 34 2001 2018
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 50 0.700 strong 1.000 23 28 1995 2016
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.200 None 0.985 66 15 2003 2019
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 15 0.700 strong 1.000 18 15 2001 2016
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.900 strong 0.943 106 14 1996 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 0.981 54 12 2003 2019
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 42 33 0.500 None 0.988 80 11 2004 2019
CUI: C1833102
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 9 0.300 None 0 8
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		disease Nervous System Diseases Disease or Syndrome 3 8 0.490 strong 1.000 10 7 2007 2017
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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.060 None 1.000 6 7 2005 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.090 None 0.889 9 6 2004 2015
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		phenotype Finding 10 6 0.100 None 0 6
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: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 62 27 0.700 None 1.000 47 4 2001 2019
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 4 5 0.570 None 1.000 11 4 2006 2018
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.150 None 1.000 9 4 2002 2016
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.190 None 0.889 9 2 2003 2019
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.060 None 1.000 6 2 2004 2010
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 205 16 0.230 None 1.000 4 2 2007 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 3 2 2017 2019
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 445 293 0.030 None 1.000 3 2 2011 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.110 None 1.000 2 2 2006 2011
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.110 None 1.000 1 2 2004 2004
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.010 None 1.000 1 2 2009 2009