chr8:38268656:> Detail (hg19) (FGFR1)

Information

Genome

Assembly Position
hg19 chr8:38,268,656-38,326,352
hg38 chr8:38,411,138-38,468,834 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.127 squamous cell carcinoma One hundred twelve primary tumors (including squamous cell carcinoma [SCC], carc... BeFree,CTD_human,LHGDN 23913758 Detail
<0.001 Carcinoma, Transitional Cell NA BeFree Detail
0.080 Transient ischemic attack NA RGD Detail
<0.001 chondrosarcoma In the present study, we found that bFGF induced VEGF (vascular endothelial grow... BeFree 25735814 Detail
<0.001 chordoma NA BeFree Detail
<0.001 choriocarcinoma NA BeFree Detail
0.002 Chromosome Aberrations NA GAD Detail
<0.001 Congenital chromosomal disease NA BeFree Detail
0.130 cleft lip NA CTD_human,GAD,LHGDN Detail
0.128 cleft palate NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 cleidocranial dysplasia Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dy... BeFree 25738174 Detail
0.002 colorectal carcinoma Finally we found that cells overexpressing SOX2 in vitro showed enhanced express... BeFree 25010701 Detail
0.002 colorectal carcinoma AZD-4547 was cytotoxic and pro-apoptotic in FGFR-1/2-expressed CRC cell lines (N... BeFree 25691251 Detail
0.003 Colorectal Neoplasms NA LHGDN Detail
<0.001 Coronary Arteriosclerosis The extent of coronary atherosclerosis in this patient set strongly correlated w... BeFree 26517696 Detail
0.002 Craniofacial Dysostosis NA GAD Detail
0.014 craniosynostosis NA BeFree,GAD,LHGDN Detail
<0.001 cryptorchidism NA BeFree Detail
0.080 Dementia, Vascular NA RGD Detail
<0.001 Demyelinating Diseases NA BeFree Detail
0.120 depressive disorder NA CTD_human Detail
<0.001 dermatitis FLG mutations affected the lifetime prevalence of hand and foot dermatitis in pa... BeFree 25659224 Detail
0.005 Dermatitis, Atopic Patients (n = 43) were classified according to their FLG status: AD with FLG+/+ ... BeFree 24330146 Detail
0.005 Dermatitis, Atopic FLG mutations affected the lifetime prevalence of hand and foot dermatitis in pa... BeFree 25659224 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
0.007 Eczema Patients (n = 43) were classified according to their FLG status: AD with FLG+/+ ... BeFree 24330146 Detail
0.007 Eczema FLG deficiency predisposes to eczema vaccinatum. BeFree 25649082 Detail
0.007 Eczema FLG mutations affected the lifetime prevalence of hand and foot dermatitis in pa... BeFree 25659224 Detail
<0.001 endometriosis Increased expression of fibroblast growth factor receptor 1 in endometriosis and... BeFree 25500535 Detail
0.002 Eosinophilia NA BeFree Detail
0.008 glioblastoma NA BeFree,LHGDN Detail
0.121 Glioma NA BeFree,CTD_human Detail
<0.001 goiter NA BeFree Detail
<0.001 Hay fever NA BeFree Detail
<0.001 Sensorineural Hearing Loss (disorder) NA BeFree Detail
<0.001 Hematological Disease NA BeFree Detail
<0.001 Hyperparathyroidism, Secondary NA BeFree Detail
0.002 Immediate hypersensitivity NA GAD Detail
0.002 Hypertensive disease NA GAD Detail
0.080 pulmonary hypertension NA BeFree,RGD Detail
0.010 hypogonadism NA GAD,LHGDN Detail
0.002 Hypothalamic Diseases NA GAD Detail
<0.001 influenza A Functional Role of Fibroblast Growth Factor Receptor 1 (FGFR1) in the Suppress... BeFree 25909503 Detail
0.002 Klinefelter syndrome A female patient with normosmic idiopathic hypogonadotropic hypogonadism carryin... BeFree 25501157 Detail
0.002 Klinefelter syndrome Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotr... BeFree 26277103 Detail
0.003 Fibroid Tumor NA LHGDN Detail
0.002 leukemia Interestingly, unlike the prototypical leukaemia-inducing FGFR1 fusion genes, wh... BeFree 25319834 Detail
<0.001 Acute Erythroblastic Leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
0.002 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 Myeloid Leukemia, Chronic NA BeFree Detail
<0.001 Leukemia, Myelomonocytic, Chronic NA BeFree Detail
<0.001 acute promyelocytic leukemia NA BeFree Detail
<0.001 Liver neoplasms NA BeFree Detail
0.120 Lung Neoplasms A tissue microarray composed of resected lung tumors was submitted to FGFR1 GCN,... BeFree,CTD_human 24771645 Detail
<0.001 lymphocytic choriomeningitis NA BeFree Detail
0.002 lymphoma NA BeFree Detail
<0.001 Malignant neoplasm of stomach Identification of gastric cancers harboring FGFR1 amplification may be important... BeFree 26239623 Detail
0.002 Marijuana Abuse NA GAD Detail
0.004 melanoma NA BeFree,LHGDN Detail
<0.001 meningioma NA BeFree Detail
<0.001 Mesothelioma Furthermore, RNAi-mediated silencing confirmed the requirement for FGFR1 in spec... BeFree 24966347 Detail
<0.001 Mesothelioma The aim of this study was to evaluate the amplification of the FGFR1 gene in pat... BeFree 25138167 Detail
0.080 Mouth Diseases NA RGD Detail
<0.001 multiple myeloma NA BeFree Detail
0.131 Myeloproliferative disease NA BeFree,CTD_human,LHGDN Detail
0.006 Neoplasm Metastasis Amplification of the FGFR1 gene is a rare but noticeable event that can be found... BeFree,LHGDN 26239623 Detail
<0.001 neuroblastoma NA BeFree Detail
0.083 obesity NA BeFree,GAD,RGD Detail
<0.001 Degenerative polyarthritis NA BeFree Detail
<0.001 osteomalacia Compared to Hyp mice, compound Hyp;Fgfr1Dmp1-cKO-null mice had significant impro... BeFree 25089825 Detail
<0.001 osteosarcoma FGFR1 amplification is present disproportionately in the rarer histological vari... BeFree 24861215 Detail
<0.001 ovarian carcinoma Both epidermal growth factor receptor (EGFR) and fibroblast growth factor recept... BeFree 25919378 Detail
<0.001 paraganglioma NA BeFree Detail
0.001 Pituitary Diseases NA BeFree Detail
0.002 polycystic ovary syndrome NA GAD Detail
0.003 Prostatic Neoplasms NA LHGDN Detail
<0.001 psoriasis NA BeFree Detail
0.002 Psychoses, Substance-Induced NA GAD Detail
0.005 Delayed puberty NA GAD,LHGDN Detail
0.002 Precocious Puberty NA GAD Detail
<0.001 retinal degeneration NA BeFree Detail
0.080 retinal detachment NA RGD Detail
<0.001 retinoblastoma NA BeFree Detail
0.003 rhabdomyosarcoma NA BeFree,LHGDN Detail
<0.001 rickets Compared to Hyp mice, compound Hyp;Fgfr1Dmp1-cKO-null mice had significant impro... BeFree 25089825 Detail
0.123 schizophrenia NA BeFree,CTD_human,GAD Detail
0.080 Seizures NA RGD Detail
<0.001 Dermatologic disorders NA BeFree Detail
<0.001 gastric ulcer NA BeFree Detail
<0.001 syndactyly NA BeFree Detail
0.002 Tobacco use disorder NA GAD Detail
<0.001 Unipolar Depression NA BeFree Detail
<0.001 Virus Diseases Here, we investigated four members of the fibroblast growth factor receptor (FGF... BeFree 25909503 Detail
<0.001 Werner syndrome NA BeFree Detail
0.002 ichthyosis vulgaris Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgari... BeFree 24330146 Detail
<0.001 Ichthyosis, X-Linked NA BeFree Detail
<0.001 B-Cell Lymphomas NA BeFree Detail
0.001 Precursor cell lymphoblastic lymphoma NA BeFree Detail
<0.001 T-Cell Lymphoma NA BeFree Detail
<0.001 Tooth Loss NA BeFree Detail
0.002 Bronchial Hyperreactivity NA GAD Detail
0.002 Ovarian Failure, Premature NA GAD Detail
<0.001 acute leukemia NA BeFree Detail
0.005 Squamous cell carcinoma of lung The purpose of this study was to elucidate if these tumors harbor amplifications... BeFree 23913758 Detail
0.005 Squamous cell carcinoma of lung Importantly, only 46% of SCCs with increased FGFR1 GCN expressed high mRNA. BeFree 24771645 Detail
0.005 Squamous cell carcinoma of lung FGFR1 amplification in lung squamous cell carcinoma: a systematic review with me... BeFree 25433983 Detail
0.121 Small cell carcinoma of lung The frequency and impact of FGFR1 amplification on clinical outcomes in Korean p... BeFree,CTD_human 25819384 Detail
0.080 sciatic neuropathy NA RGD Detail
<0.001 Dry skin Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgari... BeFree 24330146 Detail
<0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
<0.001 Malignant neoplasm of brain NA BeFree Detail
<0.001 Secondary malignant neoplasm of bone Prostate cancer cell-stromal cell crosstalk via FGFR1 mediates antitumor activit... BeFree 25186177 Detail
<0.001 Hearing Loss, Mixed Conductive-Sensorineural NA BeFree Detail
<0.001 allergic asthma NA BeFree Detail
<0.001 Cleft palate with cleft lip TGFβ, FGA, PDGFc, PDGFRa, FGF, FGFR1, FGFR2 growth factors as well as MMP and TI... BeFree 25176321 Detail
0.263 Kallmann syndrome Childhood growth of females with Kallmann syndrome and FGFR1 mutations. BeFree,CTD_human,GAD,LHGDN,ORPHANET 24841555 Detail
0.263 Kallmann syndrome Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been repo... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25501157 Detail
0.263 Kallmann syndrome Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotr... BeFree,CTD_human,GAD,LHGDN,ORPHANET 26277103 Detail
0.001 Tumor Progression NA BeFree Detail
<0.001 Idiopathic hypereosinophilic syndrome NA BeFree Detail
0.080 Tympanic Membrane Perforation NA RGD Detail
<0.001 alveolar rhabdomyosarcoma NA BeFree Detail
<0.001 embryonal carcinoma NA BeFree Detail
<0.001 Carcinoma, Lobular NA BeFree Detail
<0.001 Carcinoma, Large Cell NA BeFree Detail
<0.001 inverted papilloma FGFR1 amplification was found in subsets of sinonasal SCCs (20%), carcinomas ass... BeFree 23913758 Detail
0.120 gliosarcoma NA ORPHANET Detail
<0.001 uveal melanoma NA BeFree Detail
<0.001 Metastatic malignant neoplasm to brain NA BeFree Detail
<0.001 Synkinesis NA BeFree Detail
0.002 pancreatic carcinoma NA BeFree Detail
<0.001 Gastrointestinal Stromal Tumors Here, we report that ligands from the FGF family reduced the effectiveness of im... BeFree 25673643 Detail
<0.001 panhypopituitarism NA BeFree Detail
0.004 Malignant neoplasm of lung The aim of this study was to investigate the prevalence of fibroblast growth fac... BeFree 24762544 Detail
0.004 Malignant neoplasm of lung FGFR1 mRNA and protein expression, not gene copy number, predict FGFR TKI sensit... BeFree 24771645 Detail
0.004 Malignant neoplasm of lung FGFR1 activation is an escape mechanism in human lung cancer cells resistant to ... BeFree 25115383 Detail
0.004 Malignant neoplasm of lung Kinome RNAi Screens Reveal Synergistic Targeting of MTOR and FGFR1 Pathways for ... BeFree 26359452 Detail
<0.001 Disorder of skeletal system NA BeFree Detail
<0.001 disseminated eosinophilic collagen disease NA BeFree Detail
<0.001 Trigonocephaly NA BeFree Detail
<0.001 Ectrodactyly NA BeFree Detail
<0.001 Congenital clinodactyly NA BeFree Detail
<0.001 Congenital anomaly of face NA BeFree Detail
0.007 hypogonadotropic hypogonadism A female patient with normosmic idiopathic hypogonadotropic hypogonadism carryin... BeFree,GAD 25501157 Detail
0.007 hypogonadotropic hypogonadism Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotr... BeFree,GAD 26277103 Detail
<0.001 Carcinoma breast stage IV NA BeFree Detail
<0.001 Breast cancer recurrent NA BeFree Detail
<0.001 gastric adenocarcinoma Fibroblast growth factor receptor 1 gene amplification in gastric adenocarcinoma... BeFree 26239623 Detail
<0.001 Invasive lobular breast carcinoma NA BeFree Detail
<0.001 Squamous cell carcinoma of esophagus Fibroblast growth factor receptor 1 gene amplification is associated with poor s... BeFree 25537505 Detail
<0.001 Solid tumour The FGFR1 is a therapeutic target under investigation in multiple solid tumors a... BeFree 26359452 Detail
<0.001 stage, non-small cell lung cancer NA BeFree Detail
<0.001 diffuse astrocytoma Pediatric LGG show alterations in FGFR1 and BRAF in pilocytic astrocytomas and F... BeFree 25664944 Detail
<0.001 Tumor necrosis NA BeFree Detail
0.121 pilocytic astrocytoma Pediatric LGG show alterations in FGFR1 and BRAF in pilocytic astrocytomas and F... BeFree,ORPHANET 25664944 Detail
0.121 pilocytic astrocytoma KIAA1549: BRAF Gene Fusion and FGFR1 Hotspot Mutations Are Prognostic Factors in... BeFree,ORPHANET 26083571 Detail
0.120 giant cell glioblastoma NA ORPHANET Detail
0.121 Septo-Optic Dysplasia NA BeFree,ORPHANET Detail
<0.001 Hypothalamic amenorrhea NA BeFree Detail
0.120 Idiopathic hypogonadotropic hypogonadism NA CTD_human Detail
<0.001 Human papilloma virus infection NA BeFree Detail
<0.001 chronic eosinophilic leukemia NA BeFree Detail
0.002 Malignant neoplasm of pancreas NA BeFree Detail
0.002 Malignant neoplasm of prostate NA BeFree Detail
0.002 Hematologic Neoplasms NA BeFree Detail
0.120 Craniofacial Abnormalities NA CTD_human Detail
<0.001 Developmental absence of tooth NA BeFree Detail
<0.001 Chronic Kidney Insufficiency NA BeFree Detail
<0.001 Dysmorphic features NA BeFree Detail
<0.001 Secondary malignant neoplasm of liver Finally we found that cells overexpressing SOX2 in vitro showed enhanced express... BeFree 25010701 Detail
<0.001 atopic eczema/dermatitis (non-specific) NA BeFree Detail
0.002 Sleep Apnea, Obstructive NA GAD Detail
<0.001 Thyroid carcinoma NA BeFree Detail
<0.001 Chronic idiopathic urticaria NA BeFree Detail
<0.001 Osteosarcoma of bone FGFR1 amplification is present disproportionately in the rarer histological vari... BeFree 24861215 Detail
0.002 Carcinogenesis NA BeFree Detail
<0.001 Leukemogenesis NA BeFree Detail
<0.001 Lymphoid neoplasm Myeloid and lymphoid neoplasm with abnormalities of FGFR1 presenting with trilin... BeFree 25873510 Detail
0.002 lymphoma It is hoped that the same will happen in other MPN with specific genetic alterat... BeFree 19175693 Detail
0.002 prostate carcinoma NA BeFree Detail
0.006 breast carcinoma NA BeFree Detail
0.004 Carcinoma of lung The aim of this study was to investigate the prevalence of fibroblast growth fac... BeFree 24762544 Detail
0.004 Carcinoma of lung FGFR1 mRNA and protein expression, not gene copy number, predict FGFR TKI sensit... BeFree 24771645 Detail
0.004 Carcinoma of lung FGFR1 activation is an escape mechanism in human lung cancer cells resistant to ... BeFree 25115383 Detail
0.004 Carcinoma of lung Kinome RNAi Screens Reveal Synergistic Targeting of MTOR and FGFR1 Pathways for ... BeFree 26359452 Detail
0.001 Secondary malignant neoplasm of lymph node One hundred twelve primary tumors (including squamous cell carcinoma [SCC], carc... BeFree 23913758 Detail
0.001 Secondary malignant neoplasm of lymph node FGFR1 amplification trends to correlate with lymph node metastasis and smoking. BeFree 25433983 Detail
<0.001 Parathyroid Gland Adenocarcinoma NA BeFree Detail
<0.001 stomach carcinoma Identification of gastric cancers harboring FGFR1 amplification may be important... BeFree 26239623 Detail
0.001 Carcinoma of bladder NA BeFree Detail
<0.001 Central neuroblastoma NA BeFree Detail
<0.001 Congenital pes cavus NA BeFree Detail
<0.001 colon cancer liver metastasis NA BeFree Detail
<0.001 Central Core Myopathy (disorder) Therefore, RUNX2 signaling pathways with their partners TCF7 and FGFR1/2 may not... BeFree 25738174 Detail
<0.001 malignant pleural mesothelioma Nonamplified FGFR1 is a growth driver in malignant pleural mesothelioma. BeFree 24966347 Detail
<0.001 malignant pleural mesothelioma Absence of amplification of the FGFR1-gene in human malignant mesothelioma of th... BeFree 25138167 Detail
<0.001 impaired motor coordination NA BeFree Detail
<0.001 Renal ischaemia HK-2 cells were subjected to oxygen and glucose deprivation followed by re-oxyge... BeFree 25766531 Detail
<0.001 Thyroid hyperplasia NA BeFree Detail
<0.001 Malignant neoplasm of ovary Both epidermal growth factor receptor (EGFR) and fibroblast growth factor recept... BeFree 25919378 Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
<0.001 sarcoma Canine and human sarcomas exhibit predominant FGFR1 expression and impaired viab... BeFree 24719266 Detail
<0.001 Nonseminomatous germ cell tumor NA BeFree Detail
<0.001 major depressive disorder NA BeFree Detail
0.001 Precursor T-cell lymphoblastic lymphoma NA BeFree Detail
<0.001 Precursor B-cell lymphoblastic leukemia NA BeFree Detail
0.007 Chronic myeloproliferative disorder NA BeFree Detail
<0.001 Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma NA BeFree Detail
0.002 Eosinophilic disorder NA BeFree Detail
<0.001 pancreatic ductal adenocarcinoma NA BeFree Detail
<0.001 Refractory Neoplasm NA BeFree Detail
<0.001 thalamic neoplasm NA BeFree Detail
0.002 Plagiocephaly, Nonsynostotic NA GAD Detail
0.127 Mammary Neoplasms NA BeFree,CTD_human,LHGDN Detail
0.002 acrocephalosyndactylia NA GAD Detail
<0.001 Angiogenic Switch NA BeFree Detail
<0.001 Hepatocarcinogenesis NA BeFree Detail
<0.001 Mammary Tumorigenesis NA BeFree Detail
<0.001 Tumor Angiogenesis NA BeFree Detail
<0.001 Xenograft Model NA BeFree Detail
0.001 colorectal cancer Finally we found that cells overexpressing SOX2 in vitro showed enhanced express... BeFree 25010701 Detail
0.001 colorectal cancer AZD-4547 was cytotoxic and pro-apoptotic in FGFR-1/2-expressed CRC cell lines (N... BeFree 25691251 Detail
<0.001 hypereosinophilic syndrome NA BeFree Detail
<0.001 Chronic Kidney Diseases NA BeFree Detail
<0.001 Kallmann Syndrome 1 NA BeFree Detail
<0.001 RENAL ADYSPLASIA NA BeFree Detail
<0.001 Glioblastoma multiforme NA BeFree Detail
0.002 Disorder characterized by eosinophilia NA BeFree Detail
<0.001 Benign Prostatic Hyperplasia NA BeFree Detail
<0.001 Hyperparathyroidism-Jaw Tumor Syndrome NA BeFree Detail
<0.001 Meningioma, benign, no ICD-O subtype NA BeFree Detail
0.080 OTITIS MEDIA, SUSCEPTIBILITY TO (finding) NA MGD Detail
0.361 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndro... BeFree,CLINVAR,ORPHANET,UNIPROT 24888332 Detail
<0.001 HYPERTRICHOSIS, CONGENITAL GENERALIZED NA BeFree Detail
<0.001 campomelic dysplasia NA BeFree Detail
<0.001 Inverted Squamous Cell Papilloma FGFR1 amplification was found in subsets of sinonasal SCCs (20%), carcinomas ass... BeFree 23913758 Detail
<0.001 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree Detail
0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
<0.001 low grade glioma Pediatric LGG show alterations in FGFR1 and BRAF in pilocytic astrocytomas and F... BeFree 25664944 Detail
<0.001 Urothelial Carcinoma NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
<0.001 Allergic rhinitis (disorder) NA BeFree Detail
<0.001 Metastatic Lobular Breast Carcinoma NA BeFree Detail
<0.001 Split-Hand/Foot Malformation NA BeFree Detail
<0.001 Placental Steroid Sulfatase Deficiency NA BeFree Detail
0.007 Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement NA BeFree Detail
<0.001 Split hand foot deformity 1 NA BeFree Detail
0.120 Pfeiffer type acrocephalosyndactyly NA CTD_human Detail
0.080 Neointima NA RGD Detail
0.120 Antley-Bixler Syndrome, Autosomal Dominant NA CTD_human Detail
0.122 CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME NA BeFree,ORPHANET Detail
<0.001 Triple Negative Breast Neoplasms Expression of FGFR1 is an independent prognostic factor in triple-negative breas... BeFree 25868865 Detail
<0.001 Allergic disposition Prediction of food allergy improved when FLG LOF variants were included in the m... BeFree 25620092 Detail
<0.001 Phosphaturic mesenchymal tumor, benign Identification of a novel FN1-FGFR1 genetic fusion as a frequent event in phosph... BeFree 25319834 Detail
<0.001 Congenital Abnormality NA BeFree Detail
<0.001 acanthosis nigricans NA BeFree Detail
<0.001 Apert syndrome NA BeFree Detail
<0.001 acute pancreatitis NA BeFree Detail
0.006 adenocarcinoma In resected tumors, 22% of adenocarcinomas and 28% of SCCs expressed high FGFR1 ... BeFree,LHGDN 24771645 Detail
0.002 Alzheimer's disease NA GAD Detail
<0.001 ameloblastoma NA BeFree Detail
0.002 amenorrhea NA GAD Detail
<0.001 Anaplasia NA BeFree Detail
0.002 Anosmia NA BeFree Detail
<0.001 arteriosclerosis Here, we investigated the role played by endothelial-to-mesenchymal transition (... BeFree 26517696 Detail
<0.001 rheumatoid arthritis NA BeFree Detail
0.002 asthma NA BeFree Detail
0.121 Astrocytoma NA BeFree,CTD_human Detail
<0.001 atherosclerosis Here, we investigated the role played by endothelial-to-mesenchymal transition (... BeFree 26517696 Detail
0.001 Malignant neoplasm of urinary bladder NA BeFree Detail
0.003 Bladder Neoplasm NA LHGDN Detail
<0.001 Brain Neoplasms NA BeFree Detail
0.008 Malignant neoplasm of breast NA BeFree,GAD Detail
<0.001 Adenocarcinoma of prostate NA BeFree Detail
<0.001 Malignant neoplasm of thyroid NA BeFree Detail
<0.001 Bronchioloalveolar Adenocarcinoma NA BeFree Detail
0.124 Non-small cell lung carcinoma Increased SOX2 gene copy number is associated with FGFR1 and PIK3CA gene gain in... BeFree,CTD_human 24736592 Detail
0.124 Non-small cell lung carcinoma FGFR1/3 tyrosine kinase fusions define a unique molecular subtype of non-small c... BeFree,CTD_human 24850843 Detail
0.124 Non-small cell lung carcinoma Although FGFR1 amplification is rare in SCLC compared to non-small cell lung can... BeFree,CTD_human 25819384 Detail
Annotation

Annotations

DescrptionSourceLinks
One hundred twelve primary tumors (including squamous cell carcinoma [SCC], carcinoma associated wit... DisGeNET Detail
NA DisGeNET Detail
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In the present study, we found that bFGF induced VEGF (vascular endothelial growth factor) expressio... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia. DisGeNET Detail
Finally we found that cells overexpressing SOX2 in vitro showed enhanced expression of FGFR1, which ... DisGeNET Detail
AZD-4547 was cytotoxic and pro-apoptotic in FGFR-1/2-expressed CRC cell lines (NCI-H716 and HCT-116)... DisGeNET Detail
NA DisGeNET Detail
The extent of coronary atherosclerosis in this patient set strongly correlated with loss of endothel... DisGeNET Detail
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FLG mutations affected the lifetime prevalence of hand and foot dermatitis in participants with a hi... DisGeNET Detail
Patients (n = 43) were classified according to their FLG status: AD with FLG+/+ (n = 14), AD with FL... DisGeNET Detail
FLG mutations affected the lifetime prevalence of hand and foot dermatitis in participants with a hi... DisGeNET Detail
NA DisGeNET Detail
Patients (n = 43) were classified according to their FLG status: AD with FLG+/+ (n = 14), AD with FL... DisGeNET Detail
FLG deficiency predisposes to eczema vaccinatum. DisGeNET Detail
FLG mutations affected the lifetime prevalence of hand and foot dermatitis in participants with a hi... DisGeNET Detail
Increased expression of fibroblast growth factor receptor 1 in endometriosis and its correlation wit... DisGeNET Detail
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A Functional Role of Fibroblast Growth Factor Receptor 1 (FGFR1) in the Suppression of Influenza A V... DisGeNET Detail
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation i... DisGeNET Detail
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: e... DisGeNET Detail
NA DisGeNET Detail
Interestingly, unlike the prototypical leukaemia-inducing FGFR1 fusion genes, which are ligand-indep... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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A tissue microarray composed of resected lung tumors was submitted to FGFR1 GCN, and mRNA analyses a... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Identification of gastric cancers harboring FGFR1 amplification may be important in preselecting pat... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Furthermore, RNAi-mediated silencing confirmed the requirement for FGFR1 in specific mesothelioma ce... DisGeNET Detail
The aim of this study was to evaluate the amplification of the FGFR1 gene in patients suffering from... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Amplification of the FGFR1 gene is a rare but noticeable event that can be found in 2% (6/293) of ca... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Compared to Hyp mice, compound Hyp;Fgfr1Dmp1-cKO-null mice had significant improvement in rickets an... DisGeNET Detail
FGFR1 amplification is present disproportionately in the rarer histological variants of osteosarcoma... DisGeNET Detail
Both epidermal growth factor receptor (EGFR) and fibroblast growth factor receptor 1 (FGFR1) are ove... DisGeNET Detail
NA DisGeNET Detail
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Compared to Hyp mice, compound Hyp;Fgfr1Dmp1-cKO-null mice had significant improvement in rickets an... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here, we investigated four members of the fibroblast growth factor receptor (FGFR) family; FGFR1 to ... DisGeNET Detail
NA DisGeNET Detail
Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin,... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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The purpose of this study was to elucidate if these tumors harbor amplifications of the fibroblast g... DisGeNET Detail
Importantly, only 46% of SCCs with increased FGFR1 GCN expressed high mRNA. DisGeNET Detail
FGFR1 amplification in lung squamous cell carcinoma: a systematic review with meta-analysis. DisGeNET Detail
The frequency and impact of FGFR1 amplification on clinical outcomes in Korean patients with small c... DisGeNET Detail
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Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin,... DisGeNET Detail
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Prostate cancer cell-stromal cell crosstalk via FGFR1 mediates antitumor activity of dovitinib in bo... DisGeNET Detail
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TGFβ, FGA, PDGFc, PDGFRa, FGF, FGFR1, FGFR2 growth factors as well as MMP and TIMP2 proteolytic enzy... DisGeNET Detail
Childhood growth of females with Kallmann syndrome and FGFR1 mutations. DisGeNET Detail
Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients wit... DisGeNET Detail
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: e... DisGeNET Detail
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FGFR1 amplification was found in subsets of sinonasal SCCs (20%), carcinomas associated with an inve... DisGeNET Detail
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Here, we report that ligands from the FGF family reduced the effectiveness of imatinib in GIST cells... DisGeNET Detail
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The aim of this study was to investigate the prevalence of fibroblast growth factor receptor 1 (FGFR... DisGeNET Detail
FGFR1 mRNA and protein expression, not gene copy number, predict FGFR TKI sensitivity across all lun... DisGeNET Detail
FGFR1 activation is an escape mechanism in human lung cancer cells resistant to afatinib, a pan-EGFR... DisGeNET Detail
Kinome RNAi Screens Reveal Synergistic Targeting of MTOR and FGFR1 Pathways for Treatment of Lung Ca... DisGeNET Detail
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A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation i... DisGeNET Detail
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: e... DisGeNET Detail
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Fibroblast growth factor receptor 1 gene amplification in gastric adenocarcinoma. DisGeNET Detail
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Fibroblast growth factor receptor 1 gene amplification is associated with poor survival in patients ... DisGeNET Detail
The FGFR1 is a therapeutic target under investigation in multiple solid tumors and clinical trials o... DisGeNET Detail
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Pediatric LGG show alterations in FGFR1 and BRAF in pilocytic astrocytomas and FGFR1 alterations in ... DisGeNET Detail
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Pediatric LGG show alterations in FGFR1 and BRAF in pilocytic astrocytomas and FGFR1 alterations in ... DisGeNET Detail
KIAA1549: BRAF Gene Fusion and FGFR1 Hotspot Mutations Are Prognostic Factors in Pilocytic Astrocyto... DisGeNET Detail
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Finally we found that cells overexpressing SOX2 in vitro showed enhanced expression of FGFR1, which ... DisGeNET Detail
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FGFR1 amplification is present disproportionately in the rarer histological variants of osteosarcoma... DisGeNET Detail
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Myeloid and lymphoid neoplasm with abnormalities of FGFR1 presenting with trilineage blasts and RUNX... DisGeNET Detail
It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia v... DisGeNET Detail
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The aim of this study was to investigate the prevalence of fibroblast growth factor receptor 1 (FGFR... DisGeNET Detail
FGFR1 mRNA and protein expression, not gene copy number, predict FGFR TKI sensitivity across all lun... DisGeNET Detail
FGFR1 activation is an escape mechanism in human lung cancer cells resistant to afatinib, a pan-EGFR... DisGeNET Detail
Kinome RNAi Screens Reveal Synergistic Targeting of MTOR and FGFR1 Pathways for Treatment of Lung Ca... DisGeNET Detail
One hundred twelve primary tumors (including squamous cell carcinoma [SCC], carcinoma associated wit... DisGeNET Detail
FGFR1 amplification trends to correlate with lymph node metastasis and smoking. DisGeNET Detail
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Identification of gastric cancers harboring FGFR1 amplification may be important in preselecting pat... DisGeNET Detail
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Therefore, RUNX2 signaling pathways with their partners TCF7 and FGFR1/2 may not be involved in CCD ... DisGeNET Detail
Nonamplified FGFR1 is a growth driver in malignant pleural mesothelioma. DisGeNET Detail
Absence of amplification of the FGFR1-gene in human malignant mesothelioma of the pleura: a pilot st... DisGeNET Detail
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HK-2 cells were subjected to oxygen and glucose deprivation followed by re-oxygenation (OGD/R) to mi... DisGeNET Detail
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Both epidermal growth factor receptor (EGFR) and fibroblast growth factor receptor 1 (FGFR1) are ove... DisGeNET Detail
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Canine and human sarcomas exhibit predominant FGFR1 expression and impaired viability after inhibiti... DisGeNET Detail
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Finally we found that cells overexpressing SOX2 in vitro showed enhanced expression of FGFR1, which ... DisGeNET Detail
AZD-4547 was cytotoxic and pro-apoptotic in FGFR-1/2-expressed CRC cell lines (NCI-H716 and HCT-116)... DisGeNET Detail
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Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonada... DisGeNET Detail
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FGFR1 amplification was found in subsets of sinonasal SCCs (20%), carcinomas associated with an inve... DisGeNET Detail
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Pediatric LGG show alterations in FGFR1 and BRAF in pilocytic astrocytomas and FGFR1 alterations in ... DisGeNET Detail
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Expression of FGFR1 is an independent prognostic factor in triple-negative breast cancer. DisGeNET Detail
Prediction of food allergy improved when FLG LOF variants were included in the model. DisGeNET Detail
Identification of a novel FN1-FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal t... DisGeNET Detail
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In resected tumors, 22% of adenocarcinomas and 28% of SCCs expressed high FGFR1 mRNA. DisGeNET Detail
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Here, we investigated the role played by endothelial-to-mesenchymal transition (EndMT) and its key r... DisGeNET Detail
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Here, we investigated the role played by endothelial-to-mesenchymal transition (EndMT) and its key r... DisGeNET Detail
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Increased SOX2 gene copy number is associated with FGFR1 and PIK3CA gene gain in non-small cell lung... DisGeNET Detail
FGFR1/3 tyrosine kinase fusions define a unique molecular subtype of non-small cell lung cancer. DisGeNET Detail
Although FGFR1 amplification is rare in SCLC compared to non-small cell lung cancer or other maligna... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386626619 dbSNP
Genome
hg19
Position
chr8:38,268,656-38,326,352
Variant Type
snv
Variant (CIViC) (CIViC Variant)
MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2641
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