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: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 1 18 0.700 strong 1.000 18 18 1988 2017
CUI: C1864952
Disease: Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic Hypoglycemia, Familial, 5 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 2 0.700 strong 1.000 2 2 1994 2004
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
CUI: C0271689
Disease: Insulin Receptor, Defect in
Insulin Receptor, Defect in 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1995 1995
CUI: C0333244
Disease: Transient edema
Transient edema 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.010 None 1.000 1 1997 1997
CUI: C0263536
Disease: Hypertrophy of nail
Hypertrophy of nail 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.100 None 0
CUI: C1855513
Disease: Prominent nipples
Prominent nipples 		phenotype Finding 2 0.100 None 0
CUI: C0342311
Disease: Neuroglycopenia
Neuroglycopenia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 3 5 0.010 None 1.000 1 2019 2019
CUI: C4024615
Disease: Adipose tissue loss
Adipose tissue loss 		phenotype Finding 3 0.100 None 0
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 4 11 0.800 strong 1.000 26 11 1990 2018
CUI: C0235430
Disease: Ketonemia
Ketonemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1854013
Disease: Anisomastia
Anisomastia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 4 0.100 None 0
CUI: C4023641
Disease: Abnormality of the upper urinary tract
Abnormality of the upper urinary tract 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 6 3 0.400 None 1.000 23 3 1988 2019
CUI: C0271642
Disease: Fibrocalculous pancreatic diabetes
Fibrocalculous pancreatic diabetes 		disease Disease or Syndrome 6 3 0.010 None 1.000 1 1989 1989
CUI: C0854359
Disease: Insulin autoimmune syndrome
Insulin autoimmune syndrome 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C0022681
Disease: Medullary sponge kidney
Medullary sponge kidney 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 9 3 0.010 None 1.000 1 2012 2012
CUI: C0238394
Disease: Female Pseudohermaphroditism
Female Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.100 None 0
CUI: C1855538
Disease: Small face
Small face 		phenotype Finding 10 0.100 None 0
CUI: C1864954
Disease: Fasting hyperinsulinemia
Fasting hyperinsulinemia 		phenotype Nutritional and Metabolic Diseases Finding 10 0.100 None 0
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 11 0.020 None 1.000 2 1988 1995
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2018 2018
CUI: C0332606
Disease: Elfin facies
Elfin facies 		phenotype Sign or Symptom 11 0.100 None 0
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption 		phenotype Finding 12 0.100 None 0