INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
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: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.150 None 1.000 5 1993 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.050 None 1.000 5 2014 2018
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.050 None 1.000 5 2014 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.050 None 1.000 5 2014 2018
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 179 14 0.050 None 1.000 5 1997 2010
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 0.140 None 1.000 4 2004 2018
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.040 None 0.750 4 1987 2017
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.040 None 1.000 4 2001 2006
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease Neoplasms Neoplastic Process 452 22 0.220 None 1.000 4 2000 2018
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 49 15 0.040 None 1.000 4 1988 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.040 None 1.000 4 2009 2015
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.040 None 1.000 4 2007 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.030 None 1.000 3 2012 2018
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 144 12 0.520 None 1.000 3 2008 2020
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 52 6 0.130 None 1.000 3 2004 2015
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.030 None 1.000 3 2012 2019
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 94 6 0.200 None 1.000 3 2012 2019
CUI: C1849157
Disease: Resistance to Insulin-Like Growth Factor I
Resistance to Insulin-Like Growth Factor I 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 55 4 0.030 None 1.000 3 2017 2018
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.030 None 0.667 3 2011 2019
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.020 None 1.000 2 2003 2017
CUI: C0022638
Disease: Ketosis
Ketosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 119 11 0.020 None 1.000 2 2001 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.020 None 1.000 2 2003 2009
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.020 None 1.000 2 2013 2019
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.120 None 0.500 2 1988 1995
CUI: C0342337
Disease: Insulin resistance - type B
Insulin resistance - type B 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2017 2018