FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
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: C1866260
Disease: Peroxisome Biogenesis Disorder, Complementation Group H
Peroxisome Biogenesis Disorder, Complementation Group H 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2006 2006
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2017 2017
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 877 43 0.010 None 1.000 1 2017 2017
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 370 39 0.010 None 1.000 1 2004 2004
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 371 39 0.010 None 1.000 1 2004 2004
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.010 None < 0.001 1 2017 2017
CUI: C0220636
Disease: Malignant neoplasm of salivary gland
Malignant neoplasm of salivary gland 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 91 0.010 None 1.000 1 2016 2016
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 166 3 0.010 None < 0.001 1 2017 2017
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases Neoplastic Process 392 28 0.010 None 1.000 1 2014 2014
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		disease Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 36 31 0.010 None 1.000 1 2019 2019
CUI: C0178829
Disease: reproductive system disorder
reproductive system disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 70 3 0.010 None 1.000 1 2005 2005
CUI: C0086447
Disease: Ileal Pouches
Ileal Pouches 		disease Acquired Abnormality 13 0.010 None 1.000 1 2019 2019
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 11 0.010 None 1.000 1 1 2017 2017
CUI: C0151825
Disease: Bone pain
Bone pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.010 None 1.000 1 2016 2016
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder 		disease Musculoskeletal Diseases Disease or Syndrome 80 0.010 None 1.000 1 2001 2001
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.010 None 1.000 1 2015 2015
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 267 80 0.010 None 1.000 1 2016 2016
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 180 45 0.010 None 1.000 1 1997 1997
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 30 33 0.010 None 1.000 1 2015 2015
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 25 0.010 None 1.000 1 2006 2006
CUI: C1851584
Disease: Childhood Ependymoma
Childhood Ependymoma 		disease Neoplasms Neoplastic Process 147 3 0.010 None 1.000 1 2017 2017
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2018 2018
CUI: C1831619
Disease: Phosphaturic Mesenchymal Tumor
Phosphaturic Mesenchymal Tumor 		disease Neoplastic Process 6 0.010 None 1.000 1 2016 2016
CUI: C0266258
Disease: Congenital absence of liver
Congenital absence of liver 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 25 2 0.010 None 1.000 1 2009 2009