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: C0271689
Disease: Insulin Receptor, Defect in
Insulin Receptor, Defect in
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 11 0.310 1.000 21 11 1988 2017
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
disease Endocrine System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 11 0.600 20 11 1988 2017
Type 2 diabetes mellitus with acanthosis nigricans
disease Disease or Syndrome 1 10 0.100 19 10 1956 2014
Hyperinsulinemic Hypoglycemia, Familial, 5
disease Nutritional and Metabolic Diseases Disease or Syndrome 1 2 0.700 4 2 1994 2015
CUI: C0857116
Disease: Gross obesity
Gross obesity
disease Disease or Syndrome 1 0.010 < 0.001 1 1994 1994
CUI: C0333244
Disease: Transient edema
Transient edema
phenotype Sign or Symptom 2 0.010 1.000 1 1997 1997
CUI: C0263536
Disease: Hypertrophy of nail
Hypertrophy of nail
disease Disease or Syndrome 2 0.100 0
CUI: C1855513
Disease: Prominent nipples
Prominent nipples
phenotype Finding 2 0.100 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level
phenotype Finding 2 0.100 0
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 10 0.800 1.000 27 10 1986 2018
CUI: C4024615
Disease: Adipose tissue loss
Adipose tissue loss
phenotype Finding 3 0.100 0
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
disease Disease or Syndrome 5 0.400 1.000 17 1988 2017
CUI: C0271642
Disease: Fibrocalculous pancreatic diabetes
Fibrocalculous pancreatic diabetes
disease Disease or Syndrome 5 3 0.010 1.000 1 1989 1989
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive
phenotype Finding 7 0.100 0
CUI: C1960636
Disease: Dysglycemia
Dysglycemia
disease Disease or Syndrome 8 1 0.020 1.000 2 2009 2014
CUI: C0238394
Disease: Female Pseudohermaphroditism
Female Pseudohermaphroditism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 0.100 0
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption
phenotype Finding 8 0.100 0
CUI: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia
phenotype Finding 8 0.100 0
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 9 16 0.800 0.961 64 16 1985 2018
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 16 0.010 1.000 1 2015 2015
CUI: C0269011
Disease: Increased size of penis
Increased size of penis
phenotype Finding 9 0.100 0
CUI: C1864954
Disease: Fasting hyperinsulinemia
Fasting hyperinsulinemia
phenotype Finding 9 0.100 0
INSULIN RESISTANCE, SUSCEPTIBILITY TO
phenotype Finding 10 13 0.300 3 2 1992 1995
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST
phenotype Finding 10 10 0.300 3 2 1992 1995
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 10 0.020 0.500 2 1989 1995