IRS1, insulin receptor substrate 1, 3667

N. diseases: 199; N. variants: 12
Source: BEFREE ×
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: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 385 97 0.010 None 1.000 1 2002 2002
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47 0.010 None 1.000 1 2002 2002
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 139 30 0.010 None 1.000 1 2010 2010
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 103 24 0.030 None 1.000 2 1 2001 2004
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 405 62 0.010 None 1.000 1 2012 2012
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 87 26 0.010 None 1.000 1 1 2002 2002
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 11 0.010 None 1.000 1 2017 2017
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: 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 23 0.010 None 1.000 1 1 2009 2009
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 74 16 0.010 None 1.000 1 2019 2019
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 372 27 0.020 None 1.000 2 1989 1990
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 230 24 0.010 None 1.000 1 2018 2018
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.010 None < 0.001 1 2008 2008
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 35 16 0.010 None 1.000 1 2011 2011
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1016 189 0.050 None 0.800 5 2008 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1053 67 0.030 None 1.000 3 2013 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 757 35 0.010 None 1.000 1 2018 2018
CUI: C0019158
Disease: Hepatitis
Hepatitis 		group Digestive System Diseases Disease or Syndrome 582 33 0.010 None 1.000 1 2005 2005
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder 		phenotype Digestive System Diseases Disease or Syndrome 345 0.010 None 1.000 1 2015 2015
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1736 316 0.090 None 1.000 9 2007 2018
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		disease Digestive System Diseases; Infections Disease or Syndrome 450 27 0.010 None 1.000 1 2005 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5011 1186 0.100 None 1.000 18 3 2004 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5541 769 0.400 None 1.000 13 1992 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2779 289 0.030 None 1.000 3 1 2004 2016
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2831 275 0.030 None 1.000 3 1 2004 2008