chr3:10183462:> Detail (hg19) (VHL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,183,462-10,195,351 |
| hg38 | chr3:10,141,778-10,153,667 |
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
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| von Hippel-Lindau disease | C |
Predisposing
|
Supports
|
Uncertain Significance | Rare Germline | 2 | 8707293 | Detail | |
| von Hippel-Lindau disease | C |
Predisposing
|
Supports
|
Uncertain Significance | Rare Germline | 2 | 9829912 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | squamous cell carcinoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | Cardiovascular Diseases | NA | BeFree | Detail | |
| 0.002 | Cerebellar Neoplasms | NA | GAD | Detail | |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.003 | colorectal carcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | cystadenoma | NA | BeFree | Detail | |
| <0.001 | Cyst | NA | BeFree | Detail | |
| <0.001 | Endocrine Gland Neoplasms | NA | BeFree | Detail | |
| 0.003 | Disorder of eye | NA | LHGDN | Detail | |
| <0.001 | Fenestration (morphologic abnormality) | NA | BeFree | Detail | |
| 0.001 | Glioma | NA | BeFree | Detail | |
| <0.001 | glomerulonephritis | NA | BeFree | Detail | |
| 0.009 | Head and Neck Neoplasms | NA | GAD | Detail | |
| 0.002 | hemangioma | NA | BeFree | Detail | |
| <0.001 | Hemangiosarcoma | NA | BeFree | Detail | |
| <0.001 | hepatitis B | All of these results show that HBV up-regulated miR-331-3p expression in HCC cel... | BeFree | 25750939 | Detail |
| 0.658 | Von Hippel-Lindau syndrome | Mutations in the von Hippel-Lindau (VHL) gene are pathogenic in VHL disease, con... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT | 24969085 | Detail |
| 0.658 | Von Hippel-Lindau syndrome | Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germ... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT | 25069792 | Detail |
| 0.658 | Von Hippel-Lindau syndrome | Alterations of the von Hippel-Lindau (VHL) tumor suppressor gene can cause diffe... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT | 25490036 | Detail |
| 0.658 | Von Hippel-Lindau syndrome | Identification of a novel duplication mutation in the VHL gene in a large Chines... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT | 25501229 | Detail |
| 0.658 | Von Hippel-Lindau syndrome | Von Hippel-Lindau (VHL) disease is a hereditary tumor disorder caused by mutatio... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT | 25563310 | Detail |
| 0.658 | Von Hippel-Lindau syndrome | DNA extracted from the peripheral blood of all live members and from tissue of d... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT | 25966224 | Detail |
| <0.001 | hydrocephalus | NA | BeFree | Detail | |
| <0.001 | Intestinal Neoplasms | NA | BeFree | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| <0.001 | Kidney Failure, Chronic | NA | BeFree | Detail | |
| 0.220 | Kidney Neoplasm | The majority of renal tumors in adults are clear cell renal cell carcinomas, whi... | BeFree,CTD_human,GAD,LHGDN,RGD | 25619751 | Detail |
| <0.001 | Cystic kidney | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| <0.001 | acute promyelocytic leukemia | NA | BeFree | Detail | |
| 0.120 | Lung Neoplasms | NA | BeFree,CTD_human | Detail | |
| 0.003 | lymphoma | NA | LHGDN | Detail | |
| 0.002 | Lymphoproliferative Disorders | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.010 | multiple endocrine neoplasia type 2A | NA | BeFree,GAD | Detail | |
| 0.003 | meningioma | NA | BeFree,LHGDN | Detail | |
| <0.001 | Mesothelioma | NA | BeFree | Detail | |
| 0.003 | Mouth Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Muscle Cramp | NA | BeFree | Detail | |
| 0.002 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | multiple endocrine neoplasia | NA | BeFree | Detail | |
| 0.002 | Neoplasms, Multiple Primary | NA | GAD | Detail | |
| 0.200 | nephroblastoma | NA | CTD_human,RGD | Detail | |
| <0.001 | Nervous System Neoplasms | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| 0.002 | neurofibromatosis 1 | NA | BeFree | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| <0.001 | Pancreatic Cyst | NA | BeFree | Detail | |
| 0.006 | Pancreatic Neoplasm | NA | BeFree,GAD,LHGDN | Detail | |
| 0.037 | paraganglioma | Mutations of the von Hippel-Lindau (VHL) gene are associated with pheochromocyto... | BeFree,GAD,LHGDN | 25385837 | Detail |
| 0.037 | paraganglioma | The present study gives a comprehensive picture of alterations in energy metabol... | BeFree,GAD,LHGDN | 25459911 | Detail |
| <0.001 | Extra-Adrenal Paraganglioma | NA | BeFree | Detail | |
| 0.416 | pheochromocytoma | Mutations of the von Hippel-Lindau (VHL) gene are associated with pheochromocyto... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,UNIPROT | 25385837 | Detail |
| 0.416 | pheochromocytoma | VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocyt... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,UNIPROT | 25773797 | Detail |
| 0.015 | polycythemia | Mutations in the von Hippel-Lindau (VHL) gene are pathogenic in VHL disease, con... | BeFree,GAD,LHGDN | 24969085 | Detail |
| 0.004 | Adenomatous Polyposis Coli | NA | BeFree,LHGDN | Detail | |
| <0.001 | kidney failure | NA | BeFree | Detail | |
| <0.001 | Retinal Diseases | NA | BeFree | Detail | |
| <0.001 | retinoblastoma | NA | BeFree | Detail | |
| <0.001 | spermatocele | NA | BeFree | Detail | |
| 0.080 | sudden infant death syndrome | NA | MGD | Detail | |
| 0.003 | thrombosis | NA | LHGDN | Detail | |
| 0.003 | Thyroid Neoplasm | NA | BeFree,LHGDN | Detail | |
| 0.003 | Tongue Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Trisomy | NA | BeFree | Detail | |
| <0.001 | tuberous sclerosis | NA | BeFree | Detail | |
| <0.001 | Varicosity | NA | BeFree | Detail | |
| <0.001 | Vascular Diseases | NA | BeFree | Detail | |
| <0.001 | severe combined immunodeficiency | NA | BeFree | Detail | |
| <0.001 | Small cell carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| <0.001 | Familial erythrocytosis | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of tongue | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of brain | NA | GAD | Detail | |
| 0.001 | Hemangioma of retina | NA | BeFree | Detail | |
| <0.001 | Neurofibromatoses | NA | BeFree | Detail | |
| 0.002 | Tumor Progression | The functional RSUME/pVHL interaction in VHL-related tumor progression was furth... | BeFree | 25500545 | Detail |
| <0.001 | Adenoma, Microcystic | NA | BeFree | Detail | |
| <0.001 | leiomyomatosis | NA | BeFree | Detail | |
| 0.001 | Adenocarcinoma, Clear Cell | NA | BeFree | Detail | |
| <0.001 | Follicular thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | acinar cell carcinoma | NA | BeFree | Detail | |
| <0.001 | Cystadenoma, Serous | NA | BeFree | Detail | |
| 0.021 | hemangioblastoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.001 | Neuroendocrine Tumors | NA | BeFree | Detail | |
| <0.001 | rapidly progressive glomerulonephritis | NA | BeFree | Detail | |
| <0.001 | Gastrointestinal Stromal Tumors | NA | BeFree | Detail | |
| <0.001 | hemangioma of liver | NA | BeFree | Detail | |
| <0.001 | Medullary carcinoma of thyroid | NA | BeFree | Detail | |
| <0.001 | Papillary thyroid carcinoma | Alterations of the von Hippel-Lindau (VHL) tumor suppressor gene can cause diffe... | BeFree | 25490036 | Detail |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| 0.080 | Parkinsonian Disorders | NA | RGD | Detail | |
| <0.001 | Chronic colitis | NA | BeFree | Detail | |
| <0.001 | Renal glomerular disease | NA | BeFree | Detail | |
| <0.001 | Simple renal cyst | NA | BeFree | Detail | |
| <0.001 | Metastatic Renal Cell Cancer | NA | BeFree | Detail | |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| 0.001 | Vascular Neoplasms | NA | BeFree | Detail | |
| <0.001 | Venous retinal branch occlusion | NA | BeFree | Detail | |
| <0.001 | Oncocytoma, renal | NA | BeFree | Detail | |
| <0.001 | Tumor Initiation | Since loss of VHL is frequently detected early phase genetic event in human rena... | BeFree | 25499220 | Detail |
| <0.001 | Epithelial ovarian cancer | NA | BeFree | Detail | |
| 0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Dissecting aneurysm of the thoracic aorta | NA | BeFree | Detail | |
| 0.022 | Malignant neoplasm of kidney | Clear cell renal cell carcinoma (ccRCC) is the major subtype of kidney cancer th... | BeFree,GAD | 25873528 | Detail |
| <0.001 | ovarian neoplasm | NA | BeFree | Detail | |
| <0.001 | Renal ischaemia | NA | BeFree | Detail | |
| <0.001 | Hurthle Cell Tumor | NA | BeFree | Detail | |
| <0.001 | Pheochromocytoma, Extra-Adrenal | NA | BeFree | Detail | |
| <0.001 | Clear cell tumor | NA | BeFree | Detail | |
| <0.001 | papillary renal cell carcinoma | NA | BeFree | Detail | |
| 0.001 | Cerebellar hemangioblastoma | NA | BeFree | Detail | |
| 0.001 | Hereditary Malignant Neoplasm | NA | BeFree | Detail | |
| <0.001 | Paragangliomas, head and neck | NA | BeFree | Detail | |
| 0.001 | Central Nervous System Hemangioblastoma | Familial cases of central nervous system hemangioblastoma uniformly result from ... | BeFree | 25589003 | Detail |
| <0.001 | Hereditary Paraganglioma | NA | BeFree | Detail | |
| <0.001 | Nodular Neoplasm | NA | BeFree | Detail | |
| 0.002 | Non-Hereditary Clear Cell Renal Cell Carcinoma | NA | BeFree | Detail | |
| 0.658 | Von Hippel-Lindau syndrome | Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from ... | UNIPROT | 8956040 | Detail |
| <0.001 | Well Differentiated Pancreatic Endocrine Tumor | NA | BeFree | Detail | |
| <0.001 | differentiated thyroid gland carcinoma | NA | BeFree | Detail | |
| <0.001 | Epithelioma | NA | BeFree | Detail | |
| 0.013 | renal carcinoma | Clear cell renal cell carcinoma (ccRCC) is the major subtype of kidney cancer th... | BeFree | 25873528 | Detail |
| 0.005 | Mammary Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Angiogenic Switch | NA | BeFree | Detail | |
| <0.001 | Desmoplastic | NA | BeFree | Detail | |
| <0.001 | Malignant Conversion | NA | BeFree | Detail | |
| <0.001 | Tumor Angiogenesis | NA | BeFree | Detail | |
| <0.001 | Erythrocytosis | NA | BeFree | Detail | |
| <0.001 | Alport syndrome | NA | BeFree | Detail | |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| <0.001 | HEREDITARY RENAL CANCER ASSOCIATED 1 | NA | BeFree | Detail | |
| <0.001 | Multiple endocrine neoplasia (MEN) Syndrome | NA | BeFree | Detail | |
| 0.001 | Angioma | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | Hsa-miR-331-3p inhibits VHL expression by directly targeting its mRNA 3'-UTR in ... | BeFree | 25750939 | Detail |
| 0.001 | Endolymphatic sac tumor | NA | BeFree | Detail | |
| <0.001 | Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | NA | BeFree | Detail | |
| 0.001 | Bilateral pheochromocytoma and islet cell adenoma of the pancreas | NA | BeFree | Detail | |
| <0.001 | Pancreatic islet cell tumors | NA | BeFree | Detail | |
| <0.001 | Familial renal cell carcinoma | NA | BeFree | Detail | |
| <0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
| 0.008 | Clear-cell metastatic renal cell carcinoma | Molecular alterations in the VHL gene were not restricted to clear-cell RCCs (cc... | BeFree | 24727139 | Detail |
| 0.008 | Clear-cell metastatic renal cell carcinoma | In the past decade, our understanding of the genetic mutations associated with s... | BeFree | 25365943 | Detail |
| 0.008 | Clear-cell metastatic renal cell carcinoma | One TFE3-negative tumour with normal 7/17 but LOH 3p (VHL abnormality) was diagn... | BeFree | 25544614 | Detail |
| 0.005 | myelodysplastic syndrome | NA | GAD,LHGDN | Detail | |
| <0.001 | Unspecified visual loss | NA | BeFree | Detail | |
| 0.004 | adenocarcinoma | NA | BeFree,LHGDN | Detail | |
| 0.121 | adenoma | NA | BeFree,CTD_human | Detail | |
| 0.024 | Adrenal Gland Neoplasms | NA | GAD | Detail | |
| <0.001 | Aneurysm | NA | BeFree | Detail | |
| 0.008 | Anoxia | NA | LHGDN | Detail | |
| <0.001 | Astrocytoma | NA | BeFree | Detail | |
| <0.001 | ataxia telangiectasia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| 0.080 | Bladder Neoplasm | NA | RGD | Detail | |
| 0.003 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma, Papillary | NA | BeFree | Detail | |
| 0.239 | renal cell carcinoma | The frequencies of molecular changes in the VHL gene in RCCs vary among differen... | BeFree,CTD_human,GAD,LHGDN | 24727139 | Detail |
| 0.239 | renal cell carcinoma | We genotyped 70 genes involved in the pathogenesis of renal-cell carcinoma (incl... | BeFree,CTD_human,GAD,LHGDN | 24767687 | Detail |
| 0.239 | renal cell carcinoma | The small-molecule probes STF-31 and its analogue compound 146 were discovered w... | BeFree,CTD_human,GAD,LHGDN | 25058389 | Detail |
| 0.239 | renal cell carcinoma | Genomic analysis of multi-focal renal cell carcinomas from an individual with a ... | BeFree,CTD_human,GAD,LHGDN | 25159823 | Detail |
| 0.239 | renal cell carcinoma | Two single nucleotide polymorphisms in the von Hippel-Lindau tumor suppressor ge... | BeFree,CTD_human,GAD,LHGDN | 25217002 | Detail |
| 0.239 | renal cell carcinoma | Clear cell renal cell carcinomas (RCC) frequently display inactivation of von Hi... | BeFree,CTD_human,GAD,LHGDN | 25297632 | Detail |
| 0.239 | renal cell carcinoma | Renal cell carcinoma (RCC) of clear-cell type (ccRCC), the most common type, beg... | BeFree,CTD_human,GAD,LHGDN | 25359211 | Detail |
| 0.239 | renal cell carcinoma | In the past decade, our understanding of the genetic mutations associated with s... | BeFree,CTD_human,GAD,LHGDN | 25365943 | Detail |
| 0.239 | renal cell carcinoma | Since loss of VHL is frequently detected early phase genetic event in human rena... | BeFree,CTD_human,GAD,LHGDN | 25499220 | Detail |
| 0.239 | renal cell carcinoma | The development of new forms of treatment of advanced renal cell carcinoma over ... | BeFree,CTD_human,GAD,LHGDN | 25564569 | Detail |
| 0.239 | renal cell carcinoma | Our data demonstrate that SF1126 treatment abrogates the stabilization of HIF-2α... | BeFree,CTD_human,GAD,LHGDN | 25578041 | Detail |
| 0.239 | renal cell carcinoma | PI3Kβ inhibitor TGX221 selectively inhibits renal cell carcinoma cells with both... | BeFree,CTD_human,GAD,LHGDN | 25853938 | Detail |
| 0.239 | renal cell carcinoma | RCC is frequently caused by VHL gene mutations, which contribute to 75% of all R... | BeFree,CTD_human,GAD,LHGDN | 25957660 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Of 65 VHL families from central Europe, 53 were identified with germline mutations. This mutation w... | CIViC Evidence | Detail |
| Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found... | CIViC Evidence | 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 |
| All of these results show that HBV up-regulated miR-331-3p expression in HCC cell lines and miR-331-... | DisGeNET | Detail |
| Mutations in the von Hippel-Lindau (VHL) gene are pathogenic in VHL disease, congenital polycythaemi... | DisGeNET | Detail |
| Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in th... | DisGeNET | Detail |
| Alterations of the von Hippel-Lindau (VHL) tumor suppressor gene can cause different hereditary tumo... | DisGeNET | Detail |
| Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hi... | DisGeNET | Detail |
| Von Hippel-Lindau (VHL) disease is a hereditary tumor disorder caused by mutations or deletions of t... | DisGeNET | Detail |
| DNA extracted from the peripheral blood of all live members and from tissue of deceased family membe... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The majority of renal tumors in adults are clear cell renal cell carcinomas, which are characterized... | 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 |
| Mutations of the von Hippel-Lindau (VHL) gene are associated with pheochromocytomas and paragangliom... | DisGeNET | Detail |
| The present study gives a comprehensive picture of alterations in energy metabolism in SDH- and VHL-... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations of the von Hippel-Lindau (VHL) gene are associated with pheochromocytomas and paragangliom... | DisGeNET | Detail |
| VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocytomas and patients wi... | DisGeNET | Detail |
| Mutations in the von Hippel-Lindau (VHL) gene are pathogenic in VHL disease, congenital polycythaemi... | 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 |
| The functional RSUME/pVHL interaction in VHL-related tumor progression was further confirmed using a... | 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 |
| Alterations of the von Hippel-Lindau (VHL) tumor suppressor gene can cause different hereditary tumo... | 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 |
| Since loss of VHL is frequently detected early phase genetic event in human renal cell carcinoma, pV... | 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 |
| Clear cell renal cell carcinoma (ccRCC) is the major subtype of kidney cancer that is characterized ... | 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 |
| Familial cases of central nervous system hemangioblastoma uniformly result from mutations in the Von... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Clear cell renal cell carcinoma (ccRCC) is the major subtype of kidney cancer that is characterized ... | 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 |
| Hsa-miR-331-3p inhibits VHL expression by directly targeting its mRNA 3'-UTR in HCC cell lines. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Molecular alterations in the VHL gene were not restricted to clear-cell RCCs (ccRCCs). | DisGeNET | Detail |
| In the past decade, our understanding of the genetic mutations associated with sporadic forms of RCC... | DisGeNET | Detail |
| One TFE3-negative tumour with normal 7/17 but LOH 3p (VHL abnormality) was diagnosed as clear cell R... | 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 |
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| The frequencies of molecular changes in the VHL gene in RCCs vary among different populations. | DisGeNET | Detail |
| We genotyped 70 genes involved in the pathogenesis of renal-cell carcinoma (including the VHL/HIF/VE... | DisGeNET | Detail |
| The small-molecule probes STF-31 and its analogue compound 146 were discovered while searching for c... | DisGeNET | Detail |
| Genomic analysis of multi-focal renal cell carcinomas from an individual with a germline VHL mutatio... | DisGeNET | Detail |
| Two single nucleotide polymorphisms in the von Hippel-Lindau tumor suppressor gene in Taiwanese with... | DisGeNET | Detail |
| Clear cell renal cell carcinomas (RCC) frequently display inactivation of von Hippel-Lindau (VHL) ge... | DisGeNET | Detail |
| Renal cell carcinoma (RCC) of clear-cell type (ccRCC), the most common type, begins with an intragen... | DisGeNET | Detail |
| In the past decade, our understanding of the genetic mutations associated with sporadic forms of RCC... | DisGeNET | Detail |
| Since loss of VHL is frequently detected early phase genetic event in human renal cell carcinoma, pV... | DisGeNET | Detail |
| The development of new forms of treatment of advanced renal cell carcinoma over the past two decades... | DisGeNET | Detail |
| Our data demonstrate that SF1126 treatment abrogates the stabilization of HIF-2α in 786-0 (VHL-mutat... | DisGeNET | Detail |
| PI3Kβ inhibitor TGX221 selectively inhibits renal cell carcinoma cells with both VHL and SETD2 mutat... | DisGeNET | Detail |
| RCC is frequently caused by VHL gene mutations, which contribute to 75% of all RCCs. | 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
- rs5030806 dbSNP
- Genome
- hg19
- Position
- chr3:10,183,462-10,195,351
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- C77ins (c.230_insTCT)
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1995
- Variant (CIViC) (CIViC Variant)
- V66del (c.197_220del)
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2099
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