VHL &#160; ingelesa (Q14905473)

ensembl Release 106 ^ingelesa

proteinak kodetzen dituen genea

honen azpiklasea

Erreferentzia bat

Ensembl Release 87 ^ingelesa

irudia

Protein VHL PDB 1lm8.png
957 × 587; 300 KB

0 erreferentzia

taxon honetan dago

Homo sapiens

Erreferentzia bat

ensembl Release 106 ^ingelesa

kodetzen du

Von Hippel-Lindau tumor suppressor ^ingelesa

Erreferentzia bat

UniProt ^ingelesa

6 uztaila 2017

UniProt protein ID ^ingelesa

von Hippel-Lindau tumor suppressor isoform 2 ^ingelesa

Erreferentzia bat

UniProt ^ingelesa

UniProt protein ID ^ingelesa

A0A024R2F2

lanaren edo izenaren hizkuntza

30 ekaina 2016

ingeles

genetic association ^ingelesa

Feokromozitoma

Erreferentzia bat

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

von Hippel-Lindau disease ^ingelesa

4 erreferentzia

https://search.clinicalgenome.org/kb/gene-validity/30c04ced-b74d-465a-8d7d-eb822109b7f1--2020-05-14T00:41:16

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

ClinGen ^ingelesa

9 abendua 2020

ClinGen ^ingelesa

25 urtarrila 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30c04ced-b74d-465a-8d7d-eb822109b7f1-2020-05-14T004116.004Z

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000134086/MONDO_0008667

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

familial erythrocytosis 2 ^ingelesa

3 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000134086/MONDO_0009892

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000134086/Orphanet_238557

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

nonpapillary renal cell carcinoma ^ingelesa

Erreferentzia bat

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

hereditary pheochromocytoma-paraganglioma ^ingelesa

Erreferentzia bat

ClinGen ^ingelesa

6 azaroa 2019

https://search.clinicalgenome.org/kb/gene-validity/8353

adrenal gland pheochromocytoma ^ingelesa

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000134086/EFO_0000239

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

strand orientation ^ingelesa

forward strand ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic start ^ingelesa

10182692

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

10141778

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic end ^ingelesa

10193904

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

10153667

human chromosome 3 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

cytogenetic location ^ingelesa

3p25.3

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HomoloGene ID ^ingelesa

465

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Gene Atlas image ^ingelesa

PBB GE VHL 203844 at fs.png
732 × 530; 12 KB

0 erreferentzia

Vhl ^ingelesa

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

465

Vhl ^ingelesa

taxon honetan dago

Sagu arrunt

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

465

vhl ^ingelesa

taxon honetan dago

Danio rerio

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

465

expressed in ^ingelesa

Monozito

1

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

ganglionic eminence ^ingelesa

2

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

stromal cell of endometrium ^ingelesa

3

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

Langerhansen irla

4

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

gongoil linfatiko

5

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

ondeste

6

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

cerebellar hemisphere ^ingelesa

7

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

left adrenal gland ^ingelesa

8

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

Bare

9

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

Behazun xixku

10

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

http://identifiers.org/ncbigene/7428

baliokidetasun zehatza

Erreferentzia bat

Identifiers.org ^ingelesa

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifikatzaileak

RNAren identifikatzailea

NM_000551

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

CIViC gene ID ^ingelesa

58

0 erreferentzia

Erreferentzia bat

ensembl Release 106 ^ingelesa

Ensembl-ren transkripzio-identifikatzailea

ENST00000477538

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000256474

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000345392

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000696153

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000696142

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000696143

Erreferentzia bat

ensembl Release 106 ^ingelesa

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HGNC ID ^ingelesa

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

OMIM ID ^ingelesa

608537

Erreferentzia bat

Online Mendelian Inheritance in Man

19 abuztua 2019

UMLS CUI ^ingelesa

C0694897

Erreferentzia bat

based on heuristic ^ingelesa

inferred by common HGNC mappings on source and on Wikidata ^ingelesa

UMLS 2023 ^ingelesa