FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 330; N. variants: 67
Source: INFERRED ×
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: 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 4 0.720 strong 0.971 16 21 1994 2017
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.900 None 1.000 14 5 1994 2020
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 0.750 strong 0.889 2 16 2003 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 21 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 165 0.430 None 1.000 1 1 2007 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 446 0.450 None 0.833 1 1 2004 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 33 0.200 None 0.882 1 2 1994 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 26 0.100 None 1.000 1 5 2016 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 687 0.420 None 1.000 1 1 2006 2017
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 33 0.110 None 1.000 1 3 2015 2016
Transitional cell carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 39 0.110 None 1.000 1 2 2016 2017
Idiopathic hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 13 0.500 strong 1.000 1 9 2006 2020
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 10 0.100 None 1.000 1 3 2016 2016
Acute lymphoblastic leukemia with lymphomatous features
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 6 0.100 None 1.000 1 2 2016 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 93 0.190 None 1.000 1 2 2006 2020
Hypogonadism, Isolated Hypogonadotropic
disease Endocrine System Diseases Disease or Syndrome 1 0.160 None 1.000 1 1 2006 2013
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 261 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 336 0.100 None 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 64 0.100 None 0
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 47 0.100 None 0
CUI: C0003537
Disease: Aphasia
Aphasia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 56 0.100 None 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 43 0.100 None 0
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 446 0.100 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 244 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 574 0.100 None 0