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.
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.900 0.930 136 16 1992 2017
Maturity-Onset Diabetes of the Young, Type 1
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 14 0.900 1.000 18 12 1990 2013
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
disease Disease or Syndrome 1 1 0.600 2 1 2012 2014
Maturity onset diabetes mellitus in young
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 82 26 0.500 0.928 83 7 1995 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 376 33 0.470 strong 1.000 8 1 2007 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 moderate 0
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 914 696 0.360 1.000 6 2008 2014
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 5 26 0.310 1.000 1 2008 2008
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST
phenotype Finding 10 10 0.300 1 1 1998 1998
INSULIN RESISTANCE, SUSCEPTIBILITY TO
phenotype Finding 10 13 0.300 1 1 1998 1998
Hyperinsulinism due to HNF4A deficiency
disease Disease or Syndrome 1 0.300 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1506 440 0.200 0.945 127 3 1994 2018
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia
disease Disease or Syndrome 27 1 0.200 1.000 12 2007 2017
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma
disease Neoplastic Process 96 0.200 1 2010 2010
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 231 13 0.160 1.000 6 2000 2017
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia
disease Disease or Syndrome 28 3 0.140 1.000 4 2007 2017
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 58 0.110 1.000 1 2014 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.110 1.000 1 1 2014 2014
CUI: C0011847
Disease: Diabetes
Diabetes
disease Disease or Syndrome 1267 349 0.100 0.939 98 3 1994 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.100 0.926 28 1992 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.100 1.000 19 1997 2016
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1320 7 0.100 0.882 17 1992 2018
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.100 1.000 16 1997 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.100 0.929 14 2000 2017
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Neoplastic Process 2090 240 0.100 1.000 13 1999 2016