IRS1, insulin receptor substrate 1, 3667

N. diseases: 233; N. variants: 15
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: C1840169
Disease: CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO
CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO 		disease Finding 2 3 0.100 None 0 1
CUI: C1852091
Disease: INSULIN RESISTANCE, SUSCEPTIBILITY TO
INSULIN RESISTANCE, SUSCEPTIBILITY TO 		disease Finding 3 3 0.100 None 0 1
CUI: C3896643
Disease: New Onset Diabetes After Transplant
New Onset Diabetes After Transplant 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 1 2015 2015
CUI: C3887611
Disease: Restlessness
Restlessness 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 9 4 0.010 None 1.000 1 2015 2015
CUI: C0271066
Disease: Choroidal retinal neovascularization
Choroidal retinal neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2012 2012
CUI: C1706412
Disease: Lipidemias
Lipidemias 		phenotype Nutritional and Metabolic Diseases Finding 18 0.300 None 1.000 1 1999 1999
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 22 0.010 None 1.000 1 2017 2017
CUI: C1257963
Disease: Endogenous Hyperinsulinism
Endogenous Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0.300 None 1.000 1 2009 2009
CUI: C1257964
Disease: Exogenous Hyperinsulinism
Exogenous Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0.300 None 1.000 1 2009 2009
CUI: C4703555
Disease: Decreased waist to hip ratio
Decreased waist to hip ratio 		phenotype Finding 28 0.100 None 0
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		disease Endocrine System Diseases Disease or Syndrome 30 11 0.020 None 1.000 2 1 2001 2002
CUI: C1257965
Disease: Compensatory Hyperinsulinemia
Compensatory Hyperinsulinemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 30 2 0.300 None 1.000 1 2009 2009
CUI: C1257958
Disease: Glucose Metabolism Disorders
Glucose Metabolism Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 32 0.010 None 1.000 1 2019 2019
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		disease Nervous System Diseases Disease or Syndrome 35 14 0.010 None 1.000 1 2014 2014
CUI: C4331921
Disease: Obesity-Associated Insulin Resistance
Obesity-Associated Insulin Resistance 		disease Disease or Syndrome 36 0.020 None 1.000 2 2001 2018
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		disease Disease or Syndrome 36 7 0.010 None 1.000 1 2011 2011
CUI: C4285910
Disease: Obstructive sleep apnea hypopnea syndrome
Obstructive sleep apnea hypopnea syndrome 		disease Disease or Syndrome 41 7 0.010 None 1.000 1 1 2016 2016
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 47 27 0.010 None 1.000 1 2011 2011
CUI: C1392786
Disease: Cognitive changes
Cognitive changes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 50 15 0.010 None 1.000 1 2019 2019
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 62 0.010 None 1.000 1 1 2009 2009
CUI: C2363142
Disease: T-Cell Prolymphocytic Leukemia
T-Cell Prolymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 52 4 0.010 None 1.000 1 2018 2018
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 54 26 0.010 None 1.000 1 1 2009 2009
CUI: C1257763
Disease: Overnutrition
Overnutrition 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 54 0.010 None 1.000 1 2015 2015
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding) 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 2019 2019
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		disease Disease or Syndrome 55 28 0.010 None 1.000 1 1 2009 2009