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.
Resistance to Insulin-Like Growth Factor I
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 55 4 0.700 strong 0.977 43 4 2001 2019
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.700 None 1.000 13 2 1991 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.560 None 1.000 9 2005 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.510 None 1.000 3 2009 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.420 strong 1.000 3 2013 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.400 None 1.000 104 5 1992 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.400 None 1.000 95 5 1994 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.400 None 1.000 36 1 1996 2020
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.400 None 1.000 26 1992 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.400 None 1.000 2 2 2018 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.370 None 1.000 8 1999 2019
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.370 None 1.000 8 2004 2016
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.330 None 0.750 4 2005 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.320 strong 1.000 3 2013 2017
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.320 None 1.000 2 2018 2018
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.310 None 1.000 3 2010 2017
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.310 None 1.000 2 2010 2015
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.300 None 1.000 42 2 2001 2019
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: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 157 1 0.300 None 1.000 2 2018 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.300 None 1.000 2 2018 2018
Congenital hernia of foramen of Bochdalek
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 21 0.300 None 1.000 2 2010 2011
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.300 None 1.000 2 2010 2011
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 156 0.300 None 1.000 2 2018 2018
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 261 32 0.300 None 1.000 1 2011 2011