chr10:43572516:> Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,572,516-43,625,799 |
hg38 | chr10:43,077,068-43,130,351 |
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 |
---|---|---|---|---|---|
0.080 | brain ischemia | NA | RGD | Detail | |
<0.001 | Developmental Disabilities | NA | BeFree | Detail | |
0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
0.080 | Congenital clubfoot | NA | MGD | Detail | |
<0.001 | colorectal carcinoma | NA | BeFree | Detail | |
0.120 | Colorectal Neoplasms | NA | CTD_human | Detail | |
<0.001 | Constipation | NA | BeFree | Detail | |
<0.001 | Cyst | NA | BeFree | Detail | |
0.080 | Deafness | NA | RGD | Detail | |
0.003 | Down syndrome | NA | BeFree,GAD | Detail | |
0.002 | Endocrine System Diseases | NA | BeFree | Detail | |
0.002 | Endocrine Gland Neoplasms | NA | BeFree | Detail | |
<0.001 | Esophageal Achalasia | NA | BeFree | Detail | |
<0.001 | ganglioneuroma | NA | BeFree | Detail | |
<0.001 | Gastrointestinal Diseases | NA | BeFree | Detail | |
<0.001 | glomus tumor | NA | BeFree | Detail | |
0.002 | goiter | NA | BeFree | Detail | |
0.001 | nodular goiter | Levels of miR-146a and miR-146b expression in PTC tissues were higher compared t... | BeFree | 25524940 | Detail |
0.012 | Head and Neck Neoplasms | NA | GAD | Detail | |
0.012 | Von Hippel-Lindau syndrome | NA | BeFree,GAD | Detail | |
0.001 | Hodgkin Disease | NA | BeFree | Detail | |
<0.001 | HSAN Type IV | NA | BeFree | Detail | |
0.001 | Huntington disease | NA | BeFree | Detail | |
0.002 | hydronephrosis | NA | GAD | Detail | |
0.003 | hypercalcemia | NA | BeFree,LHGDN | Detail | |
0.005 | hyperparathyroidism | NA | BeFree | Detail | |
0.008 | Hyperplasia | NA | GAD,LHGDN | Detail | |
0.002 | Hypertensive disease | NA | GAD | Detail | |
<0.001 | hypothyroidism | NA | BeFree | Detail | |
0.003 | Inflammation | NA | LHGDN | Detail | |
<0.001 | insulinoma | NA | BeFree | Detail | |
0.002 | Kidney Diseases | NA | GAD | Detail | |
<0.001 | Kidney Failure, Chronic | NA | BeFree | Detail | |
<0.001 | 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 | liposarcoma | Accordingly, knockdown of SPIN1 or MAZ results in reduced levels of GDNF and act... | BeFree | 25749382 | Detail |
0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
<0.001 | Lung Neoplasms | The results suggest that the RET fusion functions as a driver for the developmen... | BeFree | 25064355 | Detail |
<0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
0.005 | Lymphatic Metastasis | NA | GAD | Detail | |
<0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
<0.001 | medulloblastoma | NA | BeFree | Detail | |
<0.001 | megacolon | NA | BeFree | Detail | |
<0.001 | Melanosis | NA | BeFree | Detail | |
0.002 | multiple endocrine neoplasia type 1 | NA | BeFree | Detail | |
<0.001 | Myeloproliferative disease | NA | BeFree | Detail | |
0.019 | Neoplasm Metastasis | These results indicate that TERT promoter mutations are associated with the deve... | BeFree,GAD,LHGDN | 25583906 | Detail |
0.019 | Neoplasm Metastasis | However, the prevalence, clinical characteristics, and outcome of patients with ... | BeFree,GAD,LHGDN | 25773866 | Detail |
0.007 | Neoplasm Recurrence, Local | NA | GAD | Detail | |
0.305 | multiple endocrine neoplasia | Mutation of the RET proto-oncogene is known to be responsible for development of... | BeFree,CLINVAR,CTD_human,GAD,LHGDN | 24805091 | Detail |
0.002 | Neoplasms, Multiple Primary | NA | GAD | Detail | |
0.001 | Neoplasms, Radiation-Induced | NA | BeFree | Detail | |
0.003 | nephroblastoma | NA | BeFree,LHGDN | Detail | |
<0.001 | nervous system disorder | NA | BeFree | Detail | |
<0.001 | neurilemmoma | NA | BeFree | Detail | |
0.012 | neuroblastoma | We developed a RET mini-gene reporter system, and showed that MCS+9.7 enhanced H... | BeFree,LHGDN | 24794774 | Detail |
0.003 | neurofibromatosis 1 | HNPGs in patients with rearranged during transfection (RET), neurofibromatosis t... | BeFree | 23913591 | Detail |
<0.001 | Nodule | NA | BeFree | Detail | |
0.004 | Thyroid Nodule | Elevated thyroid nodule risks were associated with the minor alleles of RET S836... | BeFree | 19138047 | Detail |
0.008 | Pancreatic Neoplasm | NA | BeFree,GAD,LHGDN | Detail | |
0.032 | paraganglioma | NA | BeFree,GAD,LHGDN | Detail | |
<0.001 | Extra-Adrenal Paraganglioma | NA | BeFree | Detail | |
<0.001 | Parathyroid Diseases | NA | BeFree | Detail | |
0.002 | Parathyroid Neoplasms | NA | BeFree | Detail | |
<0.001 | Parkinson disease | NA | BeFree | Detail | |
<0.001 | Peripheral neuropathy | NA | BeFree | Detail | |
0.001 | pituitary adenoma | NA | BeFree | Detail | |
0.002 | Pituitary Diseases | NA | BeFree | Detail | |
<0.001 | Pituitary Neoplasms | NA | BeFree | Detail | |
<0.001 | Adenomatous Polyposis Coli | We report a FAP-associated CMVPTC tumor with atypically aggressive features harb... | BeFree | 24702198 | Detail |
<0.001 | Precancerous Conditions | NA | BeFree | Detail | |
0.002 | Prostatic Neoplasms | NA | GAD | Detail | |
0.002 | schizophrenia | NA | GAD | Detail | |
<0.001 | seminoma | NA | BeFree | Detail | |
<0.001 | Skin Neoplasms | NA | BeFree | Detail | |
<0.001 | Skin nodule | NA | BeFree | Detail | |
0.120 | status epilepticus | NA | CTD_human | Detail | |
<0.001 | struma ovarii | NA | BeFree | Detail | |
<0.001 | substance dependence | NA | BeFree | Detail | |
0.004 | Thyroid Diseases | NA | BeFree,GAD | Detail | |
0.258 | Thyroid Neoplasm | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
0.004 | Thyroid Nodule | A molecular profile including BRAF and RAS mutations as well as RET/PTC rearrang... | BeFree | 25333496 | Detail |
0.002 | thyroiditis | NA | BeFree | Detail | |
0.002 | Tobacco use disorder | NA | GAD | Detail | |
<0.001 | Trisomy | NA | BeFree | Detail | |
0.003 | Urogenital Abnormalities | NA | BeFree,GAD | Detail | |
0.012 | Vesico-Ureteral Reflux | NA | BeFree,GAD,LHGDN | Detail | |
0.002 | Vitamin A Deficiency | NA | GAD | Detail | |
<0.001 | Werner syndrome | NA | BeFree | Detail | |
<0.001 | Hallopeau-Siemens Disease | NA | BeFree | Detail | |
<0.001 | Pleural Effusion, Malignant | Clinical and prognostic implications of RET rearrangements in metastatic lung ad... | BeFree | 25773866 | Detail |
<0.001 | severe combined immunodeficiency | NA | BeFree | Detail | |
0.002 | Neoplasms, Second Primary | NA | GAD | Detail | |
0.004 | Aganglionosis, Colonic | In further subgroup analysis, the RET-CSGALNACT2-RASGEF1A genomic region was obs... | BeFree | 25310821 | Detail |
0.004 | Aganglionosis, Colonic | Cumulative effects of the RET and EDNRB genes contribute to long-segment and tot... | BeFree | 25638620 | Detail |
<0.001 | benign neoplasm | NA | BeFree | Detail | |
0.001 | Small cell carcinoma of lung | RET mutation and expression in small-cell lung cancer. | BeFree | 25122427 | Detail |
0.002 | Thyroid Gland Follicular Adenoma | NA | BeFree | Detail | |
<0.001 | Atrophic condition of skin | NA | BeFree | Detail | |
0.006 | Adenocarcinoma of lung (disorder) | This study constructed and analyzed transgenic mice expressing KIF5B-RET, the pr... | BeFree | 25064355 | Detail |
0.006 | Adenocarcinoma of lung (disorder) | Further analysis of RET mRNA expression in SCLC revealed wide variability in bot... | BeFree | 25122427 | Detail |
0.006 | Adenocarcinoma of lung (disorder) | RET-rearranged lung adenocarcinomas with lymphangitic spread, psammoma bodies, a... | BeFree | 25436805 | Detail |
0.006 | Adenocarcinoma of lung (disorder) | We analyzed 214 mutations across 26 lung cancer-associated genes and three fusio... | BeFree | 25760072 | Detail |
0.006 | Adenocarcinoma of lung (disorder) | However, the prevalence, clinical characteristics, and outcome of patients with ... | BeFree | 25773866 | Detail |
0.006 | Adenocarcinoma of lung (disorder) | This report delivers a comprehensive genetic alteration profile of lung adenocar... | BeFree | 25855381 | Detail |
0.006 | Adenocarcinoma of lung (disorder) | Among these, RET fusion transcripts are detectable in about 1-2% of lung adenoca... | BeFree | 25884512 | Detail |
0.006 | Adenocarcinoma of lung (disorder) | Decoding Tumor Phenotypes for ALK, ROS1, and RET Fusions in Lung Adenocarcinoma ... | BeFree | 26469915 | Detail |
<0.001 | Malignant neoplasm of mouth | Persephin: A potential key component in human oral cancer progression through th... | BeFree | 24375483 | Detail |
<0.001 | Malignant neoplasm of brain | The majority of the observed loci do not overlap with coding sequences; however,... | BeFree | 25644941 | Detail |
<0.001 | Malignant tumor of parathyroid gland | NA | BeFree | Detail | |
0.002 | Urea Cycle Disorders, Inborn | NA | GAD | Detail | |
0.003 | Tumor Progression | Combining several agents would seem to be more promising, in particular agents t... | BeFree | 25627652 | Detail |
<0.001 | Adenocarcinoma, Oxyphilic | NA | BeFree | Detail | |
0.003 | follicular adenoma | NA | BeFree | Detail | |
<0.001 | Adenoma, Trabecular | NA | BeFree | Detail | |
0.002 | Anaplastic carcinoma | NA | BeFree | Detail | |
0.001 | Undifferentiated carcinoma | NA | BeFree | Detail | |
<0.001 | Germ cell tumor | Next generation sequencing analysis of platinum refractory advanced germ cell tu... | BeFree | 25085632 | Detail |
<0.001 | Liposarcoma, Myxoid | NA | BeFree | Detail | |
<0.001 | alveolar soft part sarcoma | NA | BeFree | Detail | |
0.005 | Follicular thyroid carcinoma | NA | BeFree | Detail | |
0.002 | Papillary and follicular adenocarcinoma | NA | GAD | Detail | |
0.158 | Medullary carcinoma | RET/PTC mutations are often discovered both in papillary and in medullary carcin... | BeFree,CTD_human,GAD,LHGDN | 25465739 | Detail |
0.002 | Neuroendocrine Tumors | Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor mainly caused by mut... | BeFree | 25435367 | Detail |
<0.001 | Lip and oral cavity carcinoma | Persephin: A potential key component in human oral cancer progression through th... | BeFree | 24375483 | Detail |
0.006 | Hyperparathyroidism, Primary | The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary... | BeFree,LHGDN | 24684035 | Detail |
0.006 | Hyperparathyroidism, Primary | MEN2A represents more than 50% of all MEN2 cases, having a regular pattern with ... | BeFree,LHGDN | 24969991 | Detail |
<0.001 | Melanosis coli | NA | BeFree | Detail | |
<0.001 | Taste bitter | NA | BeFree | Detail | |
<0.001 | Megacolon, not Hirschsprung's | NA | BeFree | Detail | |
0.002 | pancreatic carcinoma | NA | BeFree | Detail | |
0.004 | Anaplastic thyroid carcinoma | Genetically engineered models of papillary and undifferentiated (anaplastic) thy... | BeFree | 24295207 | Detail |
<0.001 | color blindness | NA | BeFree | Detail | |
0.010 | Malignant neoplasm of lung | Oncogenic fusion of the RET (rearranged during transfection) gene was recently i... | BeFree,GAD | 25064355 | Detail |
0.010 | Malignant neoplasm of lung | The decreased MARVELD1 level in lung cancer reduces NMD efficiency through dimin... | BeFree,GAD | 25520033 | Detail |
0.010 | Malignant neoplasm of lung | Oncogenic RET tyrosine kinase gene fusions and activating mutations have recentl... | BeFree,GAD | 25546157 | Detail |
0.002 | age related macular degeneration | NA | GAD | Detail | |
0.080 | Parkinsonian Disorders | NA | RGD | Detail | |
<0.001 | Multiple tumors | The mice expressed the KIF5B-RET fusion gene specifically in lung alveolar epith... | BeFree | 25064355 | Detail |
<0.001 | parathyroid adenoma | NA | BeFree | Detail | |
<0.001 | Turcot syndrome (disorder) | NA | BeFree | Detail | |
<0.001 | Autosomal dominant hereditary disorder | NA | BeFree | Detail | |
0.002 | Congenital digestive system anomalies | NA | GAD | Detail | |
<0.001 | Congenital anomaly of the kidney | NA | BeFree | Detail | |
0.120 | Unilateral agenesis of kidney | NA | ORPHANET | Detail | |
0.001 | Amyloidosis, Primary Cutaneous | NA | BeFree | Detail | |
<0.001 | Familial lichen amyloidosis | NA | BeFree | Detail | |
<0.001 | Parathyroid hyperplasia | NA | BeFree | Detail | |
<0.001 | metastatic parathyroid cancer | NA | BeFree | Detail | |
<0.001 | Solid tumour | NA | BeFree | Detail | |
<0.001 | secondary acute myeloid leukemia | NA | BeFree | Detail | |
<0.001 | Adenocarcinoma of pancreas | NA | BeFree | Detail | |
<0.001 | Dermatitis verrucosa | In vitro siRNA RET/PTC3 showed significant (p<0.001) inhibitory effects on RP3 c... | BeFree | 24759995 | Detail |
<0.001 | Adenomatous goiter | NA | BeFree | Detail | |
<0.001 | inflammatory myofibroblastic tumor | Molecular characterization of inflammatory myofibroblastic tumors with frequent ... | BeFree | 25723109 | Detail |
<0.001 | Carcinoid tumor no ICD-O subtype | NA | BeFree | Detail | |
<0.001 | Ganglioneuromatosis | NA | BeFree | Detail | |
<0.001 | psammomatous meningioma | Our findings suggest that the combination of lymphangitic spread and psammoma bo... | BeFree | 25436805 | Detail |
<0.001 | multinodular goiter | NA | BeFree | Detail | |
<0.001 | Short segment Hirschsprung's disease | NA | BeFree | Detail | |
0.002 | Total intestinal aganglionosis | NA | BeFree | Detail | |
<0.001 | Neuronal intestinal dysplasia | NA | BeFree | Detail | |
0.002 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
<0.001 | Early gastric cancer | NA | BeFree | Detail | |
<0.001 | Hematopoietic Neoplasms | NA | BeFree | Detail | |
<0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
<0.001 | Primary vesicoureteric reflux | NA | BeFree | Detail | |
<0.001 | Carney complex | NA | BeFree | Detail | |
<0.001 | Gastrointestinal symptom | In families with MEN2A and known exon 10 RET mutations, the threshold for invest... | BeFree | 24972642 | Detail |
<0.001 | Mandibuloacral dysostosis | NA | BeFree | Detail | |
<0.001 | Follicular neoplasm | NA | BeFree | Detail | |
<0.001 | Papillary neoplasm | NA | BeFree | Detail | |
<0.001 | Secondary malignant neoplasm of liver | NA | BeFree | Detail | |
<0.001 | Benign neurologic neoplasms | NA | BeFree | Detail | |
0.002 | Sleep Apnea, Obstructive | NA | GAD | Detail | |
0.001 | Congenital absence of kidney | NA | BeFree | Detail | |
0.024 | Carcinogenesis | A mouse model of KIF5B-RET fusion-dependent lung tumorigenesis. | BeFree | 25064355 | Detail |
0.024 | Carcinogenesis | Up-regulation of miR-146a and miR-146b expression in tissues was related to carc... | BeFree | 25524940 | Detail |
0.024 | Carcinogenesis | Although RET point mutation has been identified as a driver of tumorigenesis in ... | BeFree | 25546157 | Detail |
0.024 | Carcinogenesis | The presence of the PIK3CA mutation and the wild-type KRAS, BRAF, CTNNB1 genes, ... | BeFree | 26054797 | Detail |
0.006 | Hashimoto Disease | NA | BeFree,LHGDN | Detail | |
<0.001 | Progressive Neoplastic Disease | One asymptomatic carrier had de novo codon 918 mutation (MEN2B) and showed bilat... | BeFree | 26033033 | Detail |
<0.001 | Stage II Colorectal Cancer | NA | BeFree | Detail | |
0.003 | breast carcinoma | Targeting RET-interleukin-6 crosstalk to impair metastatic dissemination in brea... | BeFree | 24467886 | Detail |
0.005 | Carcinoma of lung | Oncogenic fusion of the RET (rearranged during transfection) gene was recently i... | BeFree | 25064355 | Detail |
0.005 | Carcinoma of lung | The decreased MARVELD1 level in lung cancer reduces NMD efficiency through dimin... | BeFree | 25520033 | Detail |
0.005 | Carcinoma of lung | Oncogenic RET tyrosine kinase gene fusions and activating mutations have recentl... | BeFree | 25546157 | Detail |
0.005 | Secondary malignant neoplasm of lymph node | Positive associations were found between levels of miR-146a expression in PTC ti... | BeFree | 25524940 | Detail |
0.005 | Secondary malignant neoplasm of lymph node | One asymptomatic carrier had de novo codon 918 mutation (MEN2B) and showed bilat... | BeFree | 26033033 | Detail |
<0.001 | Parathyroid Gland Adenocarcinoma | NA | BeFree | Detail | |
<0.001 | colon carcinoma | NA | BeFree | Detail | |
<0.001 | stomach carcinoma | NA | BeFree | Detail | |
<0.001 | Carcinoma of bladder | Potentially druggable kinase fusions involving ALK, ROS, RET, NTRK and FGFR gene... | BeFree | 25500544 | Detail |
0.009 | Central neuroblastoma | We developed a RET mini-gene reporter system, and showed that MCS+9.7 enhanced H... | BeFree | 24794774 | Detail |
0.120 | Amyloidosis, Familial | NA | CTD_human | Detail | |
<0.001 | thyroid nodule solitary | NA | BeFree | Detail | |
<0.001 | trisomy 2 | NA | BeFree | Detail | |
<0.001 | Marden-Walker syndrome | NA | BeFree | Detail | |
<0.001 | malignant pleural mesothelioma | NA | BeFree | Detail | |
<0.001 | Rhabdoid Tumor of the Kidney | Investigating RET RTK signaling pathways using an IAP-based activity-profiling a... | BeFree | 24942550 | Detail |
<0.001 | Adenocarcinoma of lung, stage IV | Clinical and prognostic implications of RET rearrangements in metastatic lung ad... | BeFree | 25773866 | Detail |
<0.001 | Intraepithelial Neoplasia | NA | BeFree | Detail | |
<0.001 | Mucosal neuromas | NA | BeFree | Detail | |
<0.001 | autoimmune thyroiditis | NA | BeFree | Detail | |
<0.001 | cancer recurrence | NA | BeFree | Detail | |
<0.001 | Chromosome 17 trisomy | NA | BeFree | Detail | |
0.003 | Malignant neoplasm of ovary | NA | BeFree,GAD | Detail | |
<0.001 | Pheochromocytoma, Extra-Adrenal | NA | BeFree | Detail | |
<0.001 | Poorly Differentiated Thyroid Carcinoma | NA | BeFree | Detail | |
<0.001 | Papillary microcarcinoma | NA | BeFree | Detail | |
0.241 | Congenital central hypoventilation | NA | BeFree,CTD_human,UNIPROT | Detail | |
<0.001 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
<0.001 | Single tumor | NA | BeFree | Detail | |
<0.001 | Non-toxic nodular goiter | Levels of miR-146a and miR-146b expression in PTC tissues were higher compared t... | BeFree | 25524940 | Detail |
<0.001 | Adenocarcinoma of large intestine | NA | BeFree | Detail | |
<0.001 | Desmoplastic melanoma | We investigated the expression of p75NGFR and TrkA, and the presence of function... | BeFree | 25752716 | Detail |
0.002 | Hereditary Malignant Neoplasm | NA | BeFree | Detail | |
<0.001 | Paragangliomas, head and neck | NA | BeFree | Detail | |
0.002 | Necrotic changes (finding) | NA | GAD | Detail | |
<0.001 | Neuroblastic Tumor | NA | BeFree | Detail | |
<0.001 | thyroid hyalinizing trabecular adenoma | NA | BeFree | Detail | |
0.002 | differentiated thyroid gland carcinoma | The aim of this case-control study was to determine the effect of four well know... | BeFree | 25330015 | Detail |
0.002 | C-cell hyperplasia | NA | GAD | Detail | |
0.003 | Mammary Neoplasms | NA | LHGDN | Detail | |
<0.001 | drug dependence | NA | BeFree | Detail | |
<0.001 | Benign Struma Ovarii | NA | BeFree | Detail | |
<0.001 | Malignant Conversion | NA | BeFree | Detail | |
<0.001 | Xenograft Model | NA | BeFree | Detail | |
0.001 | colorectal cancer | NA | BeFree | Detail | |
0.241 | Congenital absence of kidneys syndrome | NA | BeFree,CTD_human,ORPHANET | Detail | |
<0.001 | RENAL ADYSPLASIA | NA | BeFree | Detail | |
<0.001 | androgen independent prostate cancer | NA | BeFree | Detail | |
0.001 | Hyperparathyroidism-Jaw Tumor Syndrome | NA | BeFree | Detail | |
<0.001 | Neonatal Deformity | NA | BeFree | Detail | |
<0.001 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET... | BeFree | 24375508 | Detail |
0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
0.522 | familial medullary thyroid carcinoma | Mutation of the RET proto-oncogene is known to be responsible for development of... | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 24805091 | Detail |
0.522 | familial medullary thyroid carcinoma | Systematic prophylactic total thyroidectomy in patients with a RET proto-oncogen... | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 24993783 | Detail |
0.522 | familial medullary thyroid carcinoma | Children belonging to families with FMTC are usually identified by RET genetic s... | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 25231454 | Detail |
0.522 | familial medullary thyroid carcinoma | The American Thyroid Association (ATA) medullary thyroid cancer (MTC) guidelines... | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 25733075 | Detail |
0.002 | Thyroid carcinoma, sporadic medullary | NA | GAD | Detail | |
<0.001 | Bulbo-Spinal Atrophy, X-Linked | NA | BeFree | Detail | |
<0.001 | Waardenburg syndrome type 1 | NA | BeFree | Detail | |
<0.001 | WAARDENBURG SYNDROME, TYPE 4A | NA | BeFree | Detail | |
<0.001 | Myeloproliferative disorder, chronic, with eosinophilia | Metastatic RET-rearranged lung adenocarcinoma patients with MPE might have favor... | BeFree | 25773866 | Detail |
<0.001 | PITUITARY ADENOMA PREDISPOSITION (disorder) | NA | BeFree | Detail | |
0.001 | HYPERPARATHYROIDISM 3 | NA | BeFree | Detail | |
0.001 | Multiple endocrine neoplasia (MEN) Syndrome | NA | BeFree | Detail | |
<0.001 | liver carcinoma | Overexpression of miR-218 inhibits hepatocellular carcinoma cell growth through ... | BeFree | 25374061 | Detail |
<0.001 | Neural crest tumor | NA | BeFree | Detail | |
<0.001 | aggressive cancer | NA | BeFree | Detail | |
<0.001 | Stage II Colorectal Cancer AJCC v7 | NA | BeFree | Detail | |
0.003 | Hypoventilation | NA | LHGDN | Detail | |
<0.001 | Nonmedullary Thyroid Carcinoma | NA | BeFree | Detail | |
<0.001 | Progressive cGVHD | One asymptomatic carrier had de novo codon 918 mutation (MEN2B) and showed bilat... | BeFree | 26033033 | Detail |
<0.001 | Congenital Intestinal Aganglionosis | NA | BeFree | Detail | |
0.002 | Cutaneous lichen amyloidosis | NA | GAD | Detail | |
<0.001 | Experimental Organism Basal Cell Carcinoma | NA | BeFree | Detail | |
<0.001 | Papillary carcinoma of the breast | NA | BeFree | Detail | |
0.002 | Medullary sponge kidney disease | NA | GAD | Detail | |
0.003 | Congenital Abnormality | NA | BeFree | Detail | |
<0.001 | Apert syndrome | NA | BeFree | Detail | |
0.004 | adenocarcinoma | NA | BeFree | Detail | |
0.002 | papillary adenocarcinoma | NA | GAD | Detail | |
0.007 | adenoma | NA | BeFree,LHGDN | Detail | |
0.027 | Adrenal Gland Neoplasms | NA | BeFree,GAD | Detail | |
<0.001 | Primary myelofibrosis | NA | BeFree | Detail | |
<0.001 | Alcoholic Intoxication, Chronic | NA | BeFree | Detail | |
<0.001 | amyotrophic lateral sclerosis | NA | BeFree | Detail | |
<0.001 | Anaplasia | This review will cover several cellular signaling pathways and mechanisms, inclu... | BeFree | 25260367 | Detail |
<0.001 | supravalvular aortic stenosis | NA | BeFree | Detail | |
0.002 | atherosclerosis | NA | GAD | Detail | |
<0.001 | Basal Cell Nevus Syndrome | NA | BeFree | Detail | |
0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
<0.001 | Brain Neoplasms | NA | BeFree | Detail | |
0.002 | Malignant neoplasm of breast | Targeting RET-interleukin-6 crosstalk to impair metastatic dissemination in brea... | BeFree | 24467886 | Detail |
0.120 | Burkitt lymphoma | NA | CTD_human | Detail | |
<0.001 | Carcinoid Tumor | NA | BeFree | Detail | |
<0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
0.005 | Non-small cell lung carcinoma | Coupled with the presence of RET fusion proteins in non-small-cell lung cancer, ... | BeFree | 25122427 | Detail |
0.005 | Non-small cell lung carcinoma | Alectinib shows potent antitumor activity against RET-rearranged non-small cell ... | BeFree | 25349307 | Detail |
0.005 | Non-small cell lung carcinoma | A mass spectrometry assay to simultaneously analyze ROS1 and RET fusion gene exp... | BeFree | 25384172 | Detail |
0.005 | Non-small cell lung carcinoma | Multiplex RT-PCR from specimens of MPE is feasible for the screening of RET rear... | BeFree | 25773866 | Detail |
0.005 | Non-small cell lung carcinoma | To evaluate the frequency and clinicopathological features of ROS1 and RET rearr... | BeFree | 25905642 | Detail |
0.029 | Carcinoma, Papillary | NA | BeFree,GAD,LHGDN | Detail |
Annotation
Annotations
Descrption | Source | Links |
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NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Levels of miR-146a and miR-146b expression in PTC tissues were higher compared to the nodular goiter... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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Accordingly, knockdown of SPIN1 or MAZ results in reduced levels of GDNF and activated RET explainin... | DisGeNET | Detail |
NA | DisGeNET | Detail |
The results suggest that the RET fusion functions as a driver for the development of lung tumors, wh... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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These results indicate that TERT promoter mutations are associated with the development of distant m... | DisGeNET | Detail |
However, the prevalence, clinical characteristics, and outcome of patients with RET-rearranged lung ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Mutation of the RET proto-oncogene is known to be responsible for development of FMTC and for multip... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We developed a RET mini-gene reporter system, and showed that MCS+9.7 enhanced HOXB5 trans-activatio... | DisGeNET | Detail |
HNPGs in patients with rearranged during transfection (RET), neurofibromatosis type 1 (NF1), and MYC... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Elevated thyroid nodule risks were associated with the minor alleles of RET S836S (rs1800862, P = 0.... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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We report a FAP-associated CMVPTC tumor with atypically aggressive features harboring a RAS mutation... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
A molecular profile including BRAF and RAS mutations as well as RET/PTC rearrangement evaluation has... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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Clinical and prognostic implications of RET rearrangements in metastatic lung adenocarcinoma patient... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
In further subgroup analysis, the RET-CSGALNACT2-RASGEF1A genomic region was observed to have differ... | DisGeNET | Detail |
Cumulative effects of the RET and EDNRB genes contribute to long-segment and total colonic aganglion... | DisGeNET | Detail |
NA | DisGeNET | Detail |
RET mutation and expression in small-cell lung cancer. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
This study constructed and analyzed transgenic mice expressing KIF5B-RET, the predominant form of RE... | DisGeNET | Detail |
Further analysis of RET mRNA expression in SCLC revealed wide variability in both cells and tumors, ... | DisGeNET | Detail |
RET-rearranged lung adenocarcinomas with lymphangitic spread, psammoma bodies, and clinical response... | DisGeNET | Detail |
We analyzed 214 mutations across 26 lung cancer-associated genes and three fusion genes using the Ma... | DisGeNET | Detail |
However, the prevalence, clinical characteristics, and outcome of patients with RET-rearranged lung ... | DisGeNET | Detail |
This report delivers a comprehensive genetic alteration profile of lung adenocarcinomas (LADC) drive... | DisGeNET | Detail |
Among these, RET fusion transcripts are detectable in about 1-2% of lung adenocarcinomas and might r... | DisGeNET | Detail |
Decoding Tumor Phenotypes for ALK, ROS1, and RET Fusions in Lung Adenocarcinoma Using a Radiomics Ap... | DisGeNET | Detail |
Persephin: A potential key component in human oral cancer progression through the RET receptor tyros... | DisGeNET | Detail |
The majority of the observed loci do not overlap with coding sequences; however, several observed ge... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Combining several agents would seem to be more promising, in particular agents that target RET with ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Next generation sequencing analysis of platinum refractory advanced germ cell tumor sensitive to Sun... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
RET/PTC mutations are often discovered both in papillary and in medullary carcinomas, while B-RAF mu... | DisGeNET | Detail |
Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor mainly caused by mutations in the rearra... | DisGeNET | Detail |
Persephin: A potential key component in human oral cancer progression through the RET receptor tyros... | DisGeNET | Detail |
The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (... | DisGeNET | Detail |
MEN2A represents more than 50% of all MEN2 cases, having a regular pattern with medullary thyroid ca... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Genetically engineered models of papillary and undifferentiated (anaplastic) thyroid carcinoma (PTC ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Oncogenic fusion of the RET (rearranged during transfection) gene was recently identified as a novel... | DisGeNET | Detail |
The decreased MARVELD1 level in lung cancer reduces NMD efficiency through diminishing the associati... | DisGeNET | Detail |
Oncogenic RET tyrosine kinase gene fusions and activating mutations have recently been identified in... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The mice expressed the KIF5B-RET fusion gene specifically in lung alveolar epithelial cells, and dev... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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NA | DisGeNET | Detail |
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NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
In vitro siRNA RET/PTC3 showed significant (p<0.001) inhibitory effects on RP3 cell viability (MTT a... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Molecular characterization of inflammatory myofibroblastic tumors with frequent ALK and ROS1 gene fu... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Our findings suggest that the combination of lymphangitic spread and psammoma bodies may be characte... | 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 |
In families with MEN2A and known exon 10 RET mutations, the threshold for investigation for HSCR in ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
A mouse model of KIF5B-RET fusion-dependent lung tumorigenesis. | DisGeNET | Detail |
Up-regulation of miR-146a and miR-146b expression in tissues was related to carcinogenesis and deter... | DisGeNET | Detail |
Although RET point mutation has been identified as a driver of tumorigenesis in medullary thyroid ca... | DisGeNET | Detail |
The presence of the PIK3CA mutation and the wild-type KRAS, BRAF, CTNNB1 genes, and the intact PTEN ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
One asymptomatic carrier had de novo codon 918 mutation (MEN2B) and showed bilateral microcarcinoma ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Targeting RET-interleukin-6 crosstalk to impair metastatic dissemination in breast cancer. | DisGeNET | Detail |
Oncogenic fusion of the RET (rearranged during transfection) gene was recently identified as a novel... | DisGeNET | Detail |
The decreased MARVELD1 level in lung cancer reduces NMD efficiency through diminishing the associati... | DisGeNET | Detail |
Oncogenic RET tyrosine kinase gene fusions and activating mutations have recently been identified in... | DisGeNET | Detail |
Positive associations were found between levels of miR-146a expression in PTC tissues and gender (fe... | DisGeNET | Detail |
One asymptomatic carrier had de novo codon 918 mutation (MEN2B) and showed bilateral microcarcinoma ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Potentially druggable kinase fusions involving ALK, ROS, RET, NTRK and FGFR gene families were detec... | DisGeNET | Detail |
We developed a RET mini-gene reporter system, and showed that MCS+9.7 enhanced HOXB5 trans-activatio... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Investigating RET RTK signaling pathways using an IAP-based activity-profiling approach. | DisGeNET | Detail |
Clinical and prognostic implications of RET rearrangements in metastatic lung adenocarcinoma patient... | 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 |
Levels of miR-146a and miR-146b expression in PTC tissues were higher compared to the nodular goiter... | DisGeNET | Detail |
NA | DisGeNET | Detail |
We investigated the expression of p75NGFR and TrkA, and the presence of functional RET polymorphism ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The aim of this case-control study was to determine the effect of four well known RET single nucleot... | 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 |
Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations. | DisGeNET | Detail |
NA | DisGeNET | Detail |
Mutation of the RET proto-oncogene is known to be responsible for development of FMTC and for multip... | DisGeNET | Detail |
Systematic prophylactic total thyroidectomy in patients with a RET proto-oncogene mutation allowed e... | DisGeNET | Detail |
Children belonging to families with FMTC are usually identified by RET genetic screening shortly aft... | DisGeNET | Detail |
The American Thyroid Association (ATA) medullary thyroid cancer (MTC) guidelines group RET variants,... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Metastatic RET-rearranged lung adenocarcinoma patients with MPE might have favorable survival compar... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overexpression of miR-218 inhibits hepatocellular carcinoma cell growth through RET. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
One asymptomatic carrier had de novo codon 918 mutation (MEN2B) and showed bilateral microcarcinoma ... | 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 |
This review will cover several cellular signaling pathways and mechanisms, including RET/PTC, RAS, B... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Targeting RET-interleukin-6 crosstalk to impair metastatic dissemination in breast cancer. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Coupled with the presence of RET fusion proteins in non-small-cell lung cancer, our data indicate an... | DisGeNET | Detail |
Alectinib shows potent antitumor activity against RET-rearranged non-small cell lung cancer. | DisGeNET | Detail |
A mass spectrometry assay to simultaneously analyze ROS1 and RET fusion gene expression in non-small... | DisGeNET | Detail |
Multiplex RT-PCR from specimens of MPE is feasible for the screening of RET rearrangements in NSCLC. | DisGeNET | Detail |
To evaluate the frequency and clinicopathological features of ROS1 and RET rearrangements in N2 node... | 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
- rs386545546 dbSNP
- Genome
- hg19
- Position
- chr10:43,572,516-43,625,799
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1690
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