chr10:123237846:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:123,237,846-123,357,972 |
| hg38 | chr10:121,478,332-121,598,458 |
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 |
|---|---|---|---|---|---|
| <0.001 | Adenocarcinoma, Scirrhous | NA | BeFree | Detail | |
| 0.006 | squamous cell carcinoma | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Carcinoma, Transitional Cell | NA | BeFree | Detail | |
| <0.001 | carcinosarcoma | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| 0.003 | chondrosarcoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | chordoma | NA | BeFree | Detail | |
| <0.001 | choriocarcinoma | NA | BeFree | Detail | |
| 0.120 | cleft lip | NA | CTD_human | Detail | |
| 0.121 | cleft palate | NA | BeFree,CTD_human | Detail | |
| <0.001 | Colonic Neoplasms | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | FGFR2 is amplified in the NCI-H716 colorectal cancer cell line and is required f... | BeFree | 24968263 | Detail |
| <0.001 | colorectal carcinoma | Fibroblast growth factor (FGF) receptor (FGFR) signaling is frequently dysregula... | BeFree | 25691251 | Detail |
| 0.003 | Colorectal Neoplasms | NA | LHGDN | Detail | |
| 0.160 | craniosynostosis | Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 c... | BeFree,CTD_human,GAD,LHGDN | 25045033 | Detail |
| 0.160 | craniosynostosis | In addition, we describe findings from a sequence analysis of all coding exons a... | BeFree,CTD_human,GAD,LHGDN | 25425289 | Detail |
| 0.160 | craniosynostosis | Of note, tracheal cartilaginous sleeves have been reported in other FGFR2-relate... | BeFree,CTD_human,GAD,LHGDN | 25706251 | Detail |
| 0.160 | craniosynostosis | Crouzon syndrome is an autosomal dominant craniosynostosis syndrome caused by mu... | BeFree,CTD_human,GAD,LHGDN | 25759925 | Detail |
| 0.160 | craniosynostosis | It has been known for several years that mutations in the fibroblast growth fact... | BeFree,CTD_human,GAD,LHGDN | 25759927 | Detail |
| <0.001 | double outlet right ventricle | NA | BeFree | Detail | |
| <0.001 | Dwarfism | NA | BeFree | Detail | |
| 0.003 | Pathological accumulation of air in tissues | NA | LHGDN | Detail | |
| 0.003 | Endocardial Cushion Defects | NA | LHGDN | Detail | |
| 0.120 | Endometrial Neoplasms | NA | CTD_human | Detail | |
| 0.003 | endometriosis | NA | BeFree,LHGDN | Detail | |
| <0.001 | Exophthalmos | NA | BeFree | Detail | |
| 0.001 | glioblastoma | The percentages of cells expressing FGFR-2, FGFR-2 IIIb and FGFR-2 IIIc and the ... | BeFree | 24968791 | Detail |
| 0.002 | Glioma | These findings suggest that the decrease or loss of FGFR-2, FGFR-2 IIIb and FGFR... | BeFree | 24968791 | Detail |
| 0.120 | gout | NA | GWASCAT | Detail | |
| <0.001 | Graft-vs-Host Disease | NA | BeFree | Detail | |
| 0.120 | Hamartoma Syndrome, Multiple | NA | CTD_human | Detail | |
| <0.001 | cardiac arrest | Only one death was deemed to be treatment-related: one patient in the FGFR2(non-... | BeFree | 25981814 | Detail |
| <0.001 | congenital heart defects | NA | BeFree | Detail | |
| <0.001 | Ventricular Septal Defects | NA | BeFree | Detail | |
| 0.031 | breast carcinoma | Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs19... | BeFree | 20640597 | Detail |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| 0.230 | Malignant neoplasm of breast | Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs19... | BeFree | 20640597 | Detail |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| <0.001 | Huntington disease | NA | BeFree | Detail | |
| <0.001 | hydrocephalus | Hydrocephalus in FGFR2-related Crouzon and Pfeiffer syndromes is statistically a... | BeFree | 25886248 | Detail |
| 0.003 | ovarian carcinoma | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... | BeFree | 22926736 | Detail |
| 0.007 | Malignant neoplasm of ovary | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... | BeFree | 22926736 | Detail |
| 0.002 | Immediate hypersensitivity | NA | GAD | Detail | |
| 0.002 | Hypertensive disease | NA | GAD | Detail | |
| <0.001 | Inflammatory Bowel Diseases | These findings gain significance from reports that miR-595 impairs epithelial ti... | BeFree | 25628040 | Detail |
| <0.001 | seborrheic keratosis | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | liposarcoma | NA | BeFree | Detail | |
| 0.123 | liver cirrhosis | NA | BeFree,CTD_human,LHGDN | Detail | |
| 0.120 | Lung Neoplasms | NA | CTD_human | Detail | |
| 0.009 | Malignant neoplasm of stomach | FGFR2 is amplified in breast and gastric cancer, and we report here the first ch... | BeFree | 24968263 | Detail |
| 0.009 | Malignant neoplasm of stomach | Copy number gain of MIR17HG gene (13q31.3) was rare, with an overall frequency o... | BeFree | 25047501 | Detail |
| 0.009 | Malignant neoplasm of stomach | Deep-sequencing of a primary tumor and metastasis from a single patient, and fun... | BeFree | 25222187 | Detail |
| 0.009 | Malignant neoplasm of stomach | Pazopanib, a novel multitargeted kinase inhibitor, shows potent in vitro antitum... | BeFree | 25249557 | Detail |
| 0.009 | Malignant neoplasm of stomach | Multiple receptor tyrosine kinase activation attenuates therapeutic efficacy of ... | BeFree | 25576915 | Detail |
| 0.009 | Malignant neoplasm of stomach | FGFR2 Assessment in Gastric Cancer Using Quantitative Real-Time Polymerase Chain... | BeFree | 25972329 | Detail |
| 0.002 | Animal Mammary Neoplasms | NA | GAD | Detail | |
| 0.007 | melanoma | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Mesothelioma | NA | BeFree | Detail | |
| <0.001 | Mixed Salivary Gland Tumor | NA | BeFree | Detail | |
| 0.120 | Motor Skills Disorders | NA | CTD_human | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| <0.001 | myoma | NA | BeFree | Detail | |
| 0.003 | Neoplasm Metastasis | Nuclear FGFR2 expression was associated with increased risk of metastasis (odds ... | BeFree | 24390213 | Detail |
| 0.003 | Neoplasm Metastasis | Deep-sequencing of a primary tumor and metastasis from a single patient, and fun... | BeFree | 25222187 | Detail |
| 0.003 | Neoplasm Metastasis | While the primary tumor exhibits amplification of the Fibroblast growth factor r... | BeFree | 25315765 | Detail |
| <0.001 | Lobular carcinoma in situ of breast | Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... | BeFree | 24743323 | Detail |
| <0.001 | Non-infiltrating lobular carcinoma | Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... | BeFree | 24743323 | Detail |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Nodule | NA | BeFree | Detail | |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| 0.004 | osteosarcoma | NA | BeFree,LHGDN | Detail | |
| 0.003 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.005 | Pancreatic Neoplasm | NA | GAD,LHGDN | Detail | |
| <0.001 | pituitary adenoma | NA | BeFree | Detail | |
| 0.001 | Pituitary Diseases | NA | BeFree | Detail | |
| <0.001 | Pituitary Neoplasms | NA | BeFree | Detail | |
| <0.001 | Prader-Willi syndrome | NA | BeFree | Detail | |
| 0.080 | Prostatic Neoplasms | NA | BeFree,RGD | Detail | |
| <0.001 | pulmonary embolism | Only one death was deemed to be treatment-related: one patient in the FGFR2(non-... | BeFree | 25981814 | Detail |
| <0.001 | retinoblastoma | NA | BeFree | Detail | |
| 0.003 | Kaposi sarcoma | NA | LHGDN | Detail | |
| 0.003 | schizophrenia | NA | BeFree,GAD | Detail | |
| 0.120 | Skin Abnormalities | NA | CTD_human | Detail | |
| 0.120 | Dermatologic disorders | NA | CTD_human | Detail | |
| 0.003 | Skin Neoplasms | NA | BeFree,GAD | Detail | |
| <0.001 | gastric ulcer | NA | BeFree | Detail | |
| <0.001 | strabismus | NA | BeFree | Detail | |
| 0.005 | syndactyly | NA | BeFree,LHGDN | Detail | |
| <0.001 | Congenital abnormal Synostosis | NA | BeFree | Detail | |
| <0.001 | synovial sarcoma | NA | BeFree | Detail | |
| <0.001 | syringomyelia | NA | BeFree | Detail | |
| <0.001 | Testicular Neoplasms | NA | BeFree | Detail | |
| <0.001 | thanatophoric dysplasia | NA | BeFree | Detail | |
| <0.001 | Thyroid Neoplasm | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| 0.120 | Tooth Abnormalities | NA | CTD_human | Detail | |
| <0.001 | Unipolar Depression | NA | BeFree | Detail | |
| <0.001 | Urogenital Abnormalities | NA | BeFree | Detail | |
| <0.001 | Virus Diseases | NA | BeFree | Detail | |
| <0.001 | Precursor cell lymphoblastic lymphoma | NA | BeFree | Detail | |
| 0.120 | spina bifida | NA | CTD_human | Detail | |
| 0.002 | Bronchial Hyperreactivity | NA | GAD | Detail | |
| <0.001 | seasonal affective disorder | NA | BeFree | Detail | |
| 0.003 | Polycystic Kidney, Autosomal Dominant | NA | LHGDN | Detail | |
| <0.001 | cataract | NA | BeFree | Detail | |
| <0.001 | benign neoplasm | Copy number gain of MIR17HG gene (13q31.3) was rare, with an overall frequency o... | BeFree | 25047501 | Detail |
| 0.001 | Squamous cell carcinoma of lung | FGFR2 and other FGFR kinase family gene alterations have been found in both lung... | BeFree | 25035393 | Detail |
| <0.001 | Atrophic condition of skin | NA | BeFree | Detail | |
| <0.001 | Periosteal Disorder | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | Kinase domain activation of FGFR2 yields high-grade lung adenocarcinoma sensitiv... | BeFree | 25035393 | Detail |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| <0.001 | congenital heart disease | NA | BeFree | Detail | |
| 0.003 | polydactyly | NA | LHGDN | Detail | |
| <0.001 | Malignant neoplasm of testis | 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 |
| <0.001 | Kallmann syndrome | NA | BeFree | Detail | |
| 0.241 | Saethre-Chotzen syndrome | NA | BeFree,CLINVAR,ORPHANET | Detail | |
| 0.002 | Tumor Progression | In addition, we studied the role of FGFR2 in Twist1-promoted cancer progression,... | BeFree | 25561797 | Detail |
| 0.002 | Tumor Progression | The importance of the FGFR2-Mre11-DSBR link in cancer progression is suggested b... | BeFree | 25788520 | Detail |
| <0.001 | Germ cell tumor | NA | BeFree | Detail | |
| <0.001 | Giant Cell Tumor of Bone | NA | BeFree | Detail | |
| 0.003 | Histiocytoma, Benign Fibrous | NA | LHGDN | Detail | |
| <0.001 | teratocarcinoma | NA | BeFree | Detail | |
| 0.121 | cholangiocarcinoma | Fibroblast growth factor receptor 2 fusions as a target for treating cholangioca... | BeFree,CTD_human | 25763789 | Detail |
| <0.001 | Cervical Intraepithelial Neoplasia | NA | BeFree | Detail | |
| 0.120 | Limb Deformities, Congenital | NA | CTD_human | Detail | |
| 0.332 | Pfeiffer syndrome | The clinical and genetic aspects of these families confirm that this syndrome ca... | BeFree,CLINVAR,GAD,MGD,UNIPROT | 25129254 | Detail |
| 0.332 | Pfeiffer syndrome | It has been known for several years that mutations in the fibroblast growth fact... | BeFree,CLINVAR,GAD,MGD,UNIPROT | 25759927 | Detail |
| 0.332 | Pfeiffer syndrome | Hydrocephalus in FGFR2-related Crouzon and Pfeiffer syndromes is statistically a... | BeFree,CLINVAR,GAD,MGD,UNIPROT | 25886248 | Detail |
| <0.001 | Congenital defects | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of female breast | NA | BeFree | Detail | |
| <0.001 | Skull malformation | NA | BeFree | Detail | |
| 0.001 | pancreatic carcinoma | KGFR expression levels revealed by SC-101 mAb resulted to increase proportionall... | BeFree | 24899248 | Detail |
| <0.001 | Carcinoma of male breast | NA | BeFree | Detail | |
| <0.001 | Gastrointestinal Stromal Tumors | In this study, we address this patient subset in reporting a functional dependen... | BeFree | 25432174 | Detail |
| <0.001 | Deformity of limb | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | This is the first FGFR2-driven lung cancer GEMM, which can be applied across dif... | BeFree | 25035393 | Detail |
| <0.001 | Malignant neoplasm of male breast | NA | BeFree | Detail | |
| <0.001 | parathyroid adenoma | NA | BeFree | Detail | |
| <0.001 | Disorder of skeletal system | Analysis of the FGFR2-skeletal disorder bent bone dysplasia syndrome (BBDS) demo... | BeFree | 24908667 | Detail |
| 0.360 | Lacrimoauriculodentodigital syndrome | NA | CTD_human,ORPHANET,UNIPROT | Detail | |
| 0.010 | ACROCEPHALOPOLYSYNDACTYLY TYPE IV | The clinical and genetic aspects of these families confirm that this syndrome ca... | BeFree | 25129254 | Detail |
| 0.010 | ACROCEPHALOPOLYSYNDACTYLY TYPE IV | It has been known for several years that mutations in the fibroblast growth fact... | BeFree | 25759927 | Detail |
| 0.010 | ACROCEPHALOPOLYSYNDACTYLY TYPE IV | Hydrocephalus in FGFR2-related Crouzon and Pfeiffer syndromes is statistically a... | BeFree | 25886248 | Detail |
| <0.001 | Plagiocephaly | NA | BeFree | Detail | |
| <0.001 | Scaphycephaly | NA | BeFree | Detail | |
| <0.001 | Congenital clinodactyly | NA | BeFree | Detail | |
| <0.001 | Uhl anomaly | NA | BeFree | Detail | |
| <0.001 | Overriding aorta | NA | BeFree | Detail | |
| <0.001 | Congenital duodenal obstruction due to malrotation of intestine | NA | BeFree | Detail | |
| <0.001 | Endometrioma | NA | BeFree | Detail | |
| <0.001 | Carcinoma breast stage IV | We developed a targeted 23-amplicon next-generation sequencing (NGS) panel for d... | BeFree | 25979954 | Detail |
| <0.001 | Malignant neoplasm of stomach stage IV | FGFR2 amplification was 6.6% in stage IV gastric cancers, and 42% of these showe... | BeFree | 25972329 | Detail |
| <0.001 | gastric adenocarcinoma | Expression profiles of HER2, EGFR, MET and FGFR2 in a large cohort of patients w... | BeFree | 24626858 | Detail |
| <0.001 | gastric adenocarcinoma | Twist1 correlates with poor differentiation and progression in gastric adenocarc... | BeFree | 25561797 | Detail |
| <0.001 | Endometrial neoplasm malignant metastatic | Second-line dovitinib in FGFR2(mut) and FGFR2(non-mut) advanced or metastatic en... | BeFree | 25981814 | Detail |
| <0.001 | Recurrent Endometrial Cancer | NA | BeFree | Detail | |
| <0.001 | Lobular carcinoma in situ of breast | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | Resistance to cetuximab in EGFR-overexpressing esophageal squamous cell carcinom... | BeFree | 25242085 | Detail |
| <0.001 | Adenocarcinoma of salivary gland | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Congenital premature fusion | NA | BeFree | Detail | |
| <0.001 | NEVUS, EPIDERMAL (disorder) | NA | BeFree | Detail | |
| <0.001 | Non-infiltrating lobular carcinoma | NA | BeFree | Detail | |
| <0.001 | anaplastic astrocytoma | NA | BeFree | Detail | |
| <0.001 | intrahepatic cholangiocarcinoma | NA | BeFree | Detail | |
| <0.001 | Breast Cancer, Familial | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of pancreas | KGFR expression levels revealed by SC-101 mAb resulted to increase proportionall... | BeFree | 24899248 | Detail |
| 0.003 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| 0.121 | Craniofacial Abnormalities | NA | BeFree,CTD_human | Detail | |
| <0.001 | Chronic rejection of renal transplant | NA | BeFree | Detail | |
| <0.001 | Hay-Wells syndrome | NA | BeFree | Detail | |
| <0.001 | Skeletal dysplasia | NA | BeFree | Detail | |
| <0.001 | Hypochondroplasia (disorder) | NA | BeFree | Detail | |
| <0.001 | Unicoronal craniosynostosis | NA | BeFree | Detail | |
| <0.001 | Osteoglophonic dwarfism | NA | BeFree | Detail | |
| 0.125 | endometrial carcinoma | Of 248 patients with FGFR2 prescreening results, 27 (11%) had FGFR2(mut) endomet... | BeFree,CLINVAR | 25981814 | Detail |
| <0.001 | Secondary malignant neoplasm of liver | Although FGFR2 amplification is not common in primary colon cancer or lymph node... | BeFree | 24968263 | Detail |
| <0.001 | Congenital neurologic anomalies | NA | BeFree | Detail | |
| 0.002 | Sleep Apnea, Obstructive | NA | GAD | Detail | |
| <0.001 | Recurrent tumor | NA | BeFree | Detail | |
| <0.001 | Bilateral cataracts (disorder) | NA | BeFree | Detail | |
| 0.002 | Thyroid carcinoma | In addition, SC-101 mAb was able to detect KGFR down-modulation in thyroid cance... | BeFree | 24899248 | Detail |
| 0.002 | Squamous cell carcinoma of skin | NA | GAD | Detail | |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| <0.001 | Osteosarcoma of bone | NA | BeFree | Detail | |
| 0.005 | Carcinogenesis | Fibroblast growth factor (FGF) receptor (FGFR) signaling is frequently dysregula... | BeFree | 25691251 | Detail |
| 0.005 | Carcinogenesis | FGFR2 regulates Mre11 expression and double-strand break repair via the MEK-ERK-... | BeFree | 25788520 | Detail |
| 0.004 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Epithelial ovarian cancer | The expression of SDC- 1, fibroblast growth factor 2 (FGF-2), and FGF receptor 1... | BeFree | 26513873 | Detail |
| <0.001 | Carcinoma of lung | This is the first FGFR2-driven lung cancer GEMM, which can be applied across dif... | BeFree | 25035393 | Detail |
| <0.001 | Muscular ventricular septum defect | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| <0.001 | Acrocephalopolysyndactyly | Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 c... | BeFree | 25045033 | Detail |
| 0.001 | colon carcinoma | These results suggest that emerging FGFR inhibitor therapeutics may have efficac... | BeFree | 24968263 | Detail |
| 0.001 | colon carcinoma | For example, we identified both known and new endometrial cancer hotspots in the... | BeFree | 25794154 | Detail |
| 0.009 | stomach carcinoma | FGFR2 is amplified in breast and gastric cancer, and we report here the first ch... | BeFree | 24968263 | Detail |
| 0.009 | stomach carcinoma | Copy number gain of MIR17HG gene (13q31.3) was rare, with an overall frequency o... | BeFree | 25047501 | Detail |
| 0.009 | stomach carcinoma | Deep-sequencing of a primary tumor and metastasis from a single patient, and fun... | BeFree | 25222187 | Detail |
| 0.009 | stomach carcinoma | Pazopanib, a novel multitargeted kinase inhibitor, shows potent in vitro antitum... | BeFree | 25249557 | Detail |
| 0.009 | stomach carcinoma | Multiple receptor tyrosine kinase activation attenuates therapeutic efficacy of ... | BeFree | 25576915 | Detail |
| 0.009 | stomach carcinoma | FGFR2 Assessment in Gastric Cancer Using Quantitative Real-Time Polymerase Chain... | BeFree | 25972329 | Detail |
| 0.002 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Cardiac defects | NA | BeFree | Detail | |
| <0.001 | early pregnancy | NA | BeFree | Detail | |
| <0.001 | Arnold-Chiari Malformation, Type I | NA | BeFree | Detail | |
| <0.001 | impaired motor coordination | NA | BeFree | Detail | |
| 0.003 | acanthoma | NA | LHGDN | Detail | |
| 0.003 | hypospadias | NA | BeFree,GAD | Detail | |
| <0.001 | Carcinoma in situ of uterine cervix | NA | BeFree | Detail | |
| <0.001 | Invasive breast carcinoma | NA | BeFree | Detail | |
| 0.004 | ovarian neoplasm | NA | BeFree,LHGDN | Detail | |
| <0.001 | Contralateral breast cancer | NA | BeFree | Detail | |
| <0.001 | Thyroid hyperplasia | NA | BeFree | Detail | |
| 0.007 | Malignant neoplasm of ovary | NA | BeFree,GAD | Detail | |
| <0.001 | endometrial adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | sarcoma | NA | BeFree | Detail | |
| 0.003 | major depressive disorder | NA | BeFree,GAD | Detail | |
| <0.001 | Thanatophoric dysplasia, type 2 | NA | BeFree | Detail | |
| <0.001 | Hormone refractory prostate cancer | NA | BeFree | Detail | |
| <0.001 | Infiltrating Cervical Carcinoma | NA | BeFree | Detail | |
| <0.001 | pancreatic ductal adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Primary Carcinoma | NA | BeFree | Detail | |
| <0.001 | Epithelioma | NA | BeFree | Detail | |
| 0.120 | Plagiocephaly, Nonsynostotic | NA | CTD_human | Detail | |
| 0.146 | Mammary Neoplasms | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.142 | acrocephalosyndactylia | NA | CTD_human,LHGDN | Detail | |
| <0.001 | cervical keratinizing squamous cell carcinoma | NA | BeFree | Detail | |
| 0.001 | colorectal cancer | FGFR2 is amplified in the NCI-H716 colorectal cancer cell line and is required f... | BeFree | 24968263 | Detail |
| 0.001 | colorectal cancer | Fibroblast growth factor (FGF) receptor (FGFR) signaling is frequently dysregula... | BeFree | 25691251 | Detail |
| <0.001 | Non-Malignant Ascites Adverse Event | Although FGFR2 amplification is not common in primary colon cancer or lymph node... | BeFree | 24968263 | Detail |
| <0.001 | Fleck corneal dystrophy | NA | BeFree | Detail | |
| <0.001 | Cirrhosis | NA | BeFree | Detail | |
| <0.001 | Penile hypospadias | NA | BeFree | Detail | |
| 0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | Synostotic Posterior Plagiocephaly | NA | BeFree | Detail | |
| <0.001 | Mammographic Density | NA | BeFree | Detail | |
| <0.001 | Isolated hypoplasia of the right ventricle | NA | BeFree | Detail | |
| 0.562 | Cutis Gyrata Syndrome of Beare And Stevenson | Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndr... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 25706251 | Detail |
| <0.001 | Brooke-Spiegler syndrome | Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndr... | BeFree | 25706251 | Detail |
| <0.001 | Antley-Bixler syndrome with disordered steroidogenesis | NA | BeFree | Detail | |
| <0.001 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | NA | BeFree | Detail | |
| 0.003 | uterine corpus cancer | Of 248 patients with FGFR2 prescreening results, 27 (11%) had FGFR2(mut) endomet... | BeFree | 25981814 | Detail |
| <0.001 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree | Detail | |
| <0.001 | low grade glioma | Quantitative PCR analysis confirmed that the mRNA levels of FGFR-2 IIIb and FGFR... | BeFree | 24968791 | Detail |
| <0.001 | Urothelial Carcinoma | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | Inhibition of FGFR2 phosphorylation in HCC abolished FGF1-stimulated MMP7 and MM... | BeFree | 25091573 | Detail |
| 0.120 | Antley-Bixler Syndrome Phenotype | NA | CTD_human | Detail | |
| 0.120 | Pfeiffer type acrocephalosyndactyly | NA | CTD_human | Detail | |
| <0.001 | Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME | NA | BeFree | Detail | |
| 0.360 | BENT BONE DYSPLASIA SYNDROME | Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal D... | BeFree,CLINVAR,ORPHANET,UNIPROT | 24908667 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Tissue microarrays constructed from TNBCs were immunostained with FGFR1 and FGFR... | BeFree | 25868865 | Detail |
| 0.120 | intellectual disability | NA | BeFree,CTD_human | Detail | |
| <0.001 | Experimental Organism Basal Cell Carcinoma | NA | BeFree | Detail | |
| 0.002 | Congenital Abnormality | NA | BeFree | Detail | |
| 0.031 | breast carcinoma | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.230 | Malignant neoplasm of breast | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| <0.001 | acanthosis nigricans | NA | BeFree | Detail | |
| <0.001 | achondroplasia | NA | BeFree | Detail | |
| 0.455 | Apert syndrome | Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 c... | BeFree,CLINVAR,MGD,ORPHANET,UNIPROT | 25045033 | Detail |
| 0.455 | Apert syndrome | Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. | BeFree,CLINVAR,MGD,ORPHANET,UNIPROT | 25867380 | Detail |
| <0.001 | acute pancreatitis | NA | BeFree | Detail | |
| 0.007 | adenocarcinoma | NA | BeFree,LHGDN | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| <0.001 | ameloblastoma | Our findings suggest that activating FGFR2-RAS-BRAF mutations play a critical ro... | BeFree | 24993163 | Detail |
| 0.031 | breast carcinoma | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.230 | Malignant neoplasm of breast | Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... | BeFree | 22532573 | Detail |
| 0.120 | ankylosis | NA | CTD_human | Detail | |
| <0.001 | Anosmia | NA | BeFree | Detail | |
| <0.001 | arteriosclerosis | We further explored the link between disrupted FGF endothelial signaling and pro... | BeFree | 26517696 | Detail |
| <0.001 | Astrocytoma | NA | BeFree | Detail | |
| <0.001 | atherosclerosis | We further explored the link between disrupted FGF endothelial signaling and pro... | BeFree | 26517696 | Detail |
| <0.001 | Mental disorders | NA | BeFree | Detail | |
| <0.001 | bipolar disorder | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| <0.001 | Bladder Neoplasm | NA | BeFree | Detail | |
| <0.001 | borderline personality disorder | NA | BeFree | Detail | |
| <0.001 | bronchopulmonary dysplasia | NA | BeFree | Detail | |
| 0.001 | Malignant tumor of colon | These results suggest that emerging FGFR inhibitor therapeutics may have efficac... | BeFree | 24968263 | Detail |
| 0.001 | Malignant tumor of colon | For example, we identified both known and new endometrial cancer hotspots in the... | BeFree | 25794154 | Detail |
| 0.003 | Malignant neoplasm of endometrium | Of 248 patients with FGFR2 prescreening results, 27 (11%) had FGFR2(mut) endomet... | BeFree | 25981814 | Detail |
| <0.001 | female breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of skin | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of thyroid | In addition, SC-101 mAb was able to detect KGFR down-modulation in thyroid cance... | BeFree | 24899248 | Detail |
| 0.002 | basal cell carcinoma | NA | GAD | Detail | |
| 0.002 | Non-small cell lung carcinoma | Kinase domain activation of FGFR2 yields high-grade lung adenocarcinoma sensitiv... | BeFree | 25035393 | Detail |
| 0.002 | Non-small cell lung carcinoma | Activation of FGF receptor signaling promotes invasion of non-small-cell lung ca... | BeFree | 25566961 | Detail |
| <0.001 | Carcinoma, Papillary | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| FGFR2 is amplified in the NCI-H716 colorectal cancer cell line and is required for growth and surviv... | DisGeNET | Detail |
| Fibroblast growth factor (FGF) receptor (FGFR) signaling is frequently dysregulated and/or constitut... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations i... | DisGeNET | Detail |
| In addition, we describe findings from a sequence analysis of all coding exons and exon/intron bound... | DisGeNET | Detail |
| Of note, tracheal cartilaginous sleeves have been reported in other FGFR2-related craniosynostosis s... | DisGeNET | Detail |
| Crouzon syndrome is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibrob... | DisGeNET | Detail |
| It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The percentages of cells expressing FGFR-2, FGFR-2 IIIb and FGFR-2 IIIc and the intensities of their... | DisGeNET | Detail |
| These findings suggest that the decrease or loss of FGFR-2, FGFR-2 IIIb and FGFR-2 III in high-grade... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Only one death was deemed to be treatment-related: one patient in the FGFR2(non-mut) group died from... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and F... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and F... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Hydrocephalus in FGFR2-related Crouzon and Pfeiffer syndromes is statistically associated with a sma... | DisGeNET | Detail |
| The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... | DisGeNET | Detail |
| The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These findings gain significance from reports that miR-595 impairs epithelial tight junctions, where... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| FGFR2 is amplified in breast and gastric cancer, and we report here the first characterization of FG... | DisGeNET | Detail |
| Copy number gain of MIR17HG gene (13q31.3) was rare, with an overall frequency of 2% in gastric canc... | DisGeNET | Detail |
| Deep-sequencing of a primary tumor and metastasis from a single patient, and functional validation i... | DisGeNET | Detail |
| Pazopanib, a novel multitargeted kinase inhibitor, shows potent in vitro antitumor activity in gastr... | DisGeNET | Detail |
| Multiple receptor tyrosine kinase activation attenuates therapeutic efficacy of the fibroblast growt... | DisGeNET | Detail |
| FGFR2 Assessment in Gastric Cancer Using Quantitative Real-Time Polymerase Chain Reaction, Fluoresce... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Nuclear FGFR2 expression was associated with increased risk of metastasis (odds ratio (OR)=7.61, P=0... | DisGeNET | Detail |
| Deep-sequencing of a primary tumor and metastasis from a single patient, and functional validation i... | DisGeNET | Detail |
| While the primary tumor exhibits amplification of the Fibroblast growth factor receptor 2 (FGFR2) ge... | DisGeNET | Detail |
| Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... | DisGeNET | Detail |
| Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Only one death was deemed to be treatment-related: one patient in the FGFR2(non-mut) group died from... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Copy number gain of MIR17HG gene (13q31.3) was rare, with an overall frequency of 2% in gastric canc... | DisGeNET | Detail |
| FGFR2 and other FGFR kinase family gene alterations have been found in both lung squamous cell carci... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Kinase domain activation of FGFR2 yields high-grade lung adenocarcinoma sensitive to a Pan-FGFR inhi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TGFβ, FGA, PDGFc, PDGFRa, FGF, FGFR1, FGFR2 growth factors as well as MMP and TIMP2 proteolytic enzy... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In addition, we studied the role of FGFR2 in Twist1-promoted cancer progression, including prolifera... | DisGeNET | Detail |
| The importance of the FGFR2-Mre11-DSBR link in cancer progression is suggested by the finding that g... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Fibroblast growth factor receptor 2 fusions as a target for treating cholangiocarcinoma. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The clinical and genetic aspects of these families confirm that this syndrome can be clinically vari... | DisGeNET | Detail |
| It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) ... | DisGeNET | Detail |
| Hydrocephalus in FGFR2-related Crouzon and Pfeiffer syndromes is statistically associated with a sma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| KGFR expression levels revealed by SC-101 mAb resulted to increase proportionally with tumor grade i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this study, we address this patient subset in reporting a functional dependence of GIST on the FG... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This is the first FGFR2-driven lung cancer GEMM, which can be applied across different cancer indica... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Analysis of the FGFR2-skeletal disorder bent bone dysplasia syndrome (BBDS) demonstrates that FGFR2,... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The clinical and genetic aspects of these families confirm that this syndrome can be clinically vari... | DisGeNET | Detail |
| It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) ... | DisGeNET | Detail |
| Hydrocephalus in FGFR2-related Crouzon and Pfeiffer syndromes is statistically associated with a sma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We developed a targeted 23-amplicon next-generation sequencing (NGS) panel for detection of hot-spot... | DisGeNET | Detail |
| FGFR2 amplification was 6.6% in stage IV gastric cancers, and 42% of these showed heterogeneous ampl... | DisGeNET | Detail |
| Expression profiles of HER2, EGFR, MET and FGFR2 in a large cohort of patients with gastric adenocar... | DisGeNET | Detail |
| Twist1 correlates with poor differentiation and progression in gastric adenocarcinoma via elevation ... | DisGeNET | Detail |
| Second-line dovitinib in FGFR2(mut) and FGFR2(non-mut) advanced or metastatic endometrial cancer had... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Resistance to cetuximab in EGFR-overexpressing esophageal squamous cell carcinoma xenografts due to ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| KGFR expression levels revealed by SC-101 mAb resulted to increase proportionally with tumor grade i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Of 248 patients with FGFR2 prescreening results, 27 (11%) had FGFR2(mut) endometrial cancer. | DisGeNET | Detail |
| Although FGFR2 amplification is not common in primary colon cancer or lymph node and liver metastase... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In addition, SC-101 mAb was able to detect KGFR down-modulation in thyroid cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Fibroblast growth factor (FGF) receptor (FGFR) signaling is frequently dysregulated and/or constitut... | DisGeNET | Detail |
| FGFR2 regulates Mre11 expression and double-strand break repair via the MEK-ERK-POU1F1 pathway in br... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The expression of SDC- 1, fibroblast growth factor 2 (FGF-2), and FGF receptor 1 (FGFRI) and their t... | DisGeNET | Detail |
| This is the first FGFR2-driven lung cancer GEMM, which can be applied across different cancer indica... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations i... | DisGeNET | Detail |
| These results suggest that emerging FGFR inhibitor therapeutics may have efficacy in a subset of col... | DisGeNET | Detail |
| For example, we identified both known and new endometrial cancer hotspots in the tyrosine kinase dom... | DisGeNET | Detail |
| FGFR2 is amplified in breast and gastric cancer, and we report here the first characterization of FG... | DisGeNET | Detail |
| Copy number gain of MIR17HG gene (13q31.3) was rare, with an overall frequency of 2% in gastric canc... | DisGeNET | Detail |
| Deep-sequencing of a primary tumor and metastasis from a single patient, and functional validation i... | DisGeNET | Detail |
| Pazopanib, a novel multitargeted kinase inhibitor, shows potent in vitro antitumor activity in gastr... | DisGeNET | Detail |
| Multiple receptor tyrosine kinase activation attenuates therapeutic efficacy of the fibroblast growt... | DisGeNET | Detail |
| FGFR2 Assessment in Gastric Cancer Using Quantitative Real-Time Polymerase Chain Reaction, Fluoresce... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| FGFR2 is amplified in the NCI-H716 colorectal cancer cell line and is required for growth and surviv... | DisGeNET | Detail |
| Fibroblast growth factor (FGF) receptor (FGFR) signaling is frequently dysregulated and/or constitut... | DisGeNET | Detail |
| Although FGFR2 amplification is not common in primary colon cancer or lymph node and liver metastase... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndrome with a higher ra... | DisGeNET | Detail |
| Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndrome with a higher ra... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Of 248 patients with FGFR2 prescreening results, 27 (11%) had FGFR2(mut) endometrial cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Quantitative PCR analysis confirmed that the mRNA levels of FGFR-2 IIIb and FGFR-2 IIIc in a high-gr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Inhibition of FGFR2 phosphorylation in HCC abolished FGF1-stimulated MMP7 and MMP26 expression, sugg... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. | DisGeNET | Detail |
| Tissue microarrays constructed from TNBCs were immunostained with FGFR1 and FGFR2, and scored by int... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations i... | DisGeNET | Detail |
| Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our findings suggest that activating FGFR2-RAS-BRAF mutations play a critical role in the pathogenes... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We further explored the link between disrupted FGF endothelial signaling and progression of atherosc... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We further explored the link between disrupted FGF endothelial signaling and progression of atherosc... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These results suggest that emerging FGFR inhibitor therapeutics may have efficacy in a subset of col... | DisGeNET | Detail |
| For example, we identified both known and new endometrial cancer hotspots in the tyrosine kinase dom... | DisGeNET | Detail |
| Of 248 patients with FGFR2 prescreening results, 27 (11%) had FGFR2(mut) endometrial cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In addition, SC-101 mAb was able to detect KGFR down-modulation in thyroid cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Kinase domain activation of FGFR2 yields high-grade lung adenocarcinoma sensitive to a Pan-FGFR inhi... | DisGeNET | Detail |
| Activation of FGF receptor signaling promotes invasion of non-small-cell lung cancer. | DisGeNET | Detail |
| NA | 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
- rs104548 dbSNP
- Genome
- hg19
- Position
- chr10:123,237,846-123,357,972
- Variant Type
- snv
Genome browser