FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 87; N. variants: 79
Source: CURATED ×
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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 31 0.900 None 1.000 5 5 1994 2020
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Congenital Abnormality 1 16 0.750 strong 0.889 6 16 2003 2019
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Congenital Abnormality 2 3 0.740 None 1.000 4 3 2009 2020
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 4 0.730 None 1.000 5 4 2003 2020
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 45 0.720 strong 0.971 18 42 1994 2017
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 15 0.710 strong 1.000 3 2 2000 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 33 0.700 strong 0.941 1 1995 2018
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 6 0.640 None 0.750 1 2000 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 289 7 0.620 None 1.000 5 2003 2018
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 2 0.610 strong 1.000 2 2 2000 2006
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 26 0.600 None 0.979 2 2003 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 538 763 0.600 None 0.977 2 1994 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1074 1390 0.600 None 0.976 2 1999 2020
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 259 88 0.510 None 0.667 4 2006 2017
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 18 42 0.500 strong 1.000 1 9 2006 2020
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 81 109 0.450 None 0.833 1 1 2004 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 25 11 0.450 None 1.000 1 5 1994 2019
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 39 253 0.430 None 1.000 1 1 2007 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.420 None 1.000 1 1 2006 2017
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 12 0.420 None 1.000 1 2012 2013
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 14 15 0.410 None 1.000 0 2009 2009
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		group Hemic and Lymphatic Diseases Neoplastic Process 12 10 0.400 None 0.975 2 1998 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 124 66 0.400 None 0.917 2 2008 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 156 132 0.400 None 0.917 2 1999 2020
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 266 173 0.400 None 0.970 1 2011 2019