IGF1R, insulin like growth factor 1 receptor, 3480

N. diseases: 556; N. variants: 92
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: 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: C0348921
Disease: Pre-existing diabetes mellitus, non-insulin-dependent
Pre-existing diabetes mellitus, non-insulin-dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C3899405
Disease: Decreased Attention
Decreased Attention 		phenotype Sign or Symptom 2 3 0.100 None 1.000 1 1 2018 2018
CUI: C2676198
Disease: Increased serum insulin-like growth factor 1
Increased serum insulin-like growth factor 1 		phenotype Finding 2 0.100 None 0
CUI: C0795855
Disease: Ring chromosome 15 syndrome
Ring chromosome 15 syndrome 		disease Disease or Syndrome 3 0.030 None 1.000 3 1995 2018
CUI: C0085677
Disease: Alcoholic Neuropathy
Alcoholic Neuropathy 		disease Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 5 0.200 None 1.000 1 2012 2012
CUI: C0854443
Disease: Vascular fragility
Vascular fragility 		phenotype Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C0684743
Disease: Malignant neoplasm of muscle
Malignant neoplasm of muscle 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 8 0.010 None 1.000 1 2011 2011
CUI: C1623258
Disease: Electrocardiography
Electrocardiography 		phenotype Diagnostic Procedure 8 16 0.100 None 1.000 1 1 2018 2018
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 0.010 None 1.000 1 2013 2013
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 12 0.010 None 1.000 1 2015 2015
CUI: C0410632
Disease: Schmorl's nodes
Schmorl's nodes 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 1 2016 2016
CUI: C1333768
Disease: Gastric Gastrointestinal Stromal Tumor
Gastric Gastrointestinal Stromal Tumor 		disease Digestive System Diseases; Neoplasms Neoplastic Process 11 1 0.010 None 1.000 1 2009 2009
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 1 0.100 None 0
CUI: C0346993
Disease: Secondary malignant neoplasm of female breast
Secondary malignant neoplasm of female breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 14 1 0.010 None 1.000 1 2010 2010
CUI: C4049259
Disease: Hormone refractory breast cancer
Hormone refractory breast cancer 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 15 0.010 None 1.000 1 2019 2019
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		disease Anatomical Abnormality 16 0.100 None 0
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		disease Disease or Syndrome 18 11 0.010 None 1.000 1 2007 2007
CUI: C1699634
Disease: HER-2 positive breast cancer
HER-2 positive breast cancer 		disease Neoplastic Process 18 1 0.010 None 1.000 1 2011 2011
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 18 8 0.010 None < 0.001 1 2013 2013
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 2 2010 2011
CUI: C0678128
Disease: Friend leukemia
Friend leukemia 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2018 2018
CUI: C0043515
Disease: Zollinger-Ellison syndrome
Zollinger-Ellison syndrome 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 0.010 None 1.000 1 2005 2005
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment 		disease Disease or Syndrome 20 1 0.010 None 1.000 1 2017 2017
CUI: C0850639
Disease: premalignant lesion
premalignant lesion 		phenotype Neoplastic Process 20 5 0.010 None 1.000 1 2009 2009