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: C0269011
Disease: Increased size of penis
Increased size of penis 		phenotype Male Urogenital Diseases Finding 12 0.100 None 0
CUI: C0597167
Disease: Islets of Langerhans hyperplasia
Islets of Langerhans hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 12 0.100 None 0
CUI: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia 		phenotype Nutritional and Metabolic Diseases Finding 13 1 0.100 None 0
CUI: C0271673
Disease: Symmetric Diabetic Proximal Motor Neuropathy
Symmetric Diabetic Proximal Motor Neuropathy 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 14 0.300 None 1.000 1 2008 2008
CUI: C0271674
Disease: Asymmetric Diabetic Proximal Motor Neuropathy
Asymmetric Diabetic Proximal Motor Neuropathy 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 14 0.300 None 1.000 1 2008 2008
CUI: C0271678
Disease: Diabetic Mononeuropathy
Diabetic Mononeuropathy 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 14 0.300 None 1.000 1 2008 2008
CUI: C0271685
Disease: Diabetic Amyotrophy
Diabetic Amyotrophy 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 14 0.300 None 1.000 1 2008 2008
CUI: C0271686
Disease: Diabetic Autonomic Neuropathy
Diabetic Autonomic Neuropathy 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 14 0.300 None 1.000 1 2008 2008
CUI: C0393835
Disease: Diabetic Asymmetric Polyneuropathy
Diabetic Asymmetric Polyneuropathy 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 14 0.300 None 1.000 1 2008 2008
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 14 11 0.010 None 1.000 1 2019 2019
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype Finding 14 4 0.100 None 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		phenotype Finding 14 0.100 None 0
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 15 22 0.800 None 0.970 66 22 1985 2018
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 23 0.020 None 1.000 2 1988 1995
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 31 0.010 None 1.000 1 2018 2018
CUI: C0263537
Disease: Onychogryposis
Onychogryposis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.100 None 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		phenotype Finding 17 0.100 None 0
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C0265699
Disease: Congenital hernia of foramen of Morgagni
Congenital hernia of foramen of Morgagni 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 19 0.300 None 1.000 1 2011 2011
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0576225
Disease: Long foot
Long foot 		phenotype Musculoskeletal Diseases Finding 19 3 0.100 None 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		phenotype Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Finding 20 0.100 None 0
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 21 2 0.130 None 1.000 3 1 1989 1990
CUI: C0342335
Disease: insulin resistance in diabetes
insulin resistance in diabetes 		disease Nutritional and Metabolic Diseases Disease or Syndrome 21 1 0.020 None 1.000 2 2016 2017