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: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		disease Neoplasms Neoplastic Process 20 133 0.010 None 1.000 1 2019 2019
CUI: C0265700
Disease: Congenital hernia of foramen of Bochdalek
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: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		phenotype Finding 21 1 0.100 None 0
CUI: C4087397
Disease: Mammary gland tumor
Mammary gland tumor 		disease Neoplastic Process 22 2 0.010 None 1.000 1 2017 2017
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 23 7 0.100 None 0
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.300 None 1.000 1 2010 2010
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 25 7 0.010 None 1.000 1 1 2011 2011
CUI: C0279546
Disease: Adult Undifferentiated Pleomorphic Sarcoma
Adult Undifferentiated Pleomorphic Sarcoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2017 2017
CUI: C3899638
Disease: Childhood Undifferentiated Pleomorphic Sarcoma
Childhood Undifferentiated Pleomorphic Sarcoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2017 2017
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		disease Endocrine System Diseases Disease or Syndrome 30 11 0.010 None 1.000 1 2007 2007
CUI: C0582415
Disease: Acute asthma
Acute asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 30 0.010 None 1.000 1 2017 2017
CUI: C1335059
Disease: testicular nonseminoma
testicular nonseminoma 		disease Neoplastic Process 30 4 0.010 None 1.000 1 2018 2018
CUI: C0206727
Disease: Nerve Sheath Tumors
Nerve Sheath Tumors 		group Neoplasms; Nervous System Diseases Neoplastic Process 31 0.010 None 1.000 1 2007 2007
CUI: C0265706
Disease: Gastroschisis
Gastroschisis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 31 8 0.200 None 1.000 1 2013 2013
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 8 0.010 None 1.000 1 2001 2001
CUI: C1332199
Disease: Adult Desmoplastic Small Round Cell Tumor
Adult Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2007 2007
CUI: C1332966
Disease: Childhood Desmoplastic Small Round Cell Tumor
Childhood Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2007 2007
CUI: C0349534
Disease: Carcinoma of anal margin
Carcinoma of anal margin 		disease Digestive System Diseases; Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2019 2019
CUI: C0241703
Disease: High pitched voice
High pitched voice 		phenotype Finding 35 1 0.100 None 0
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding 38 4 0.100 None 0
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 1 2003 2003
CUI: C1412036
Disease: Anal squamous cell carcinoma
Anal squamous cell carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 39 0.010 None 1.000 1 2019 2019
CUI: C0238348
Disease: Squamous cell carcinoma of penis
Squamous cell carcinoma of penis 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 40 2 0.010 None 1.000 1 2017 2017
CUI: C3146254
Disease: Stage III Colon Cancer AJCC v7
Stage III Colon Cancer AJCC v7 		disease Neoplastic Process 42 3 0.010 None 1.000 1 2020 2020
CUI: C4525124
Disease: Stage III Colon Cancer AJCC v8
Stage III Colon Cancer AJCC v8 		disease Neoplastic Process 42 3 0.010 None 1.000 1 2020 2020