EXT1 &#160; ingelesa (Q17917694)

ensembl Release 106 ^ingelesa

proteinak kodetzen dituen genea

honen azpiklasea

Erreferentzia bat

Ensembl Release 87 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

kodetzen du

Exostosin glycosyltransferase 1 ^ingelesa

Erreferentzia bat

UniProt ^ingelesa

6 uztaila 2017

UniProt protein ID ^ingelesa

Q16394

genetic association ^ingelesa

gizeneri

zehazteko metodoa

genome-wide association study ^ingelesa

TAS ^ingelesa

Erreferentzia bat

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_9970&ncbiId=2131

http://www.genome.gov/gwastudies/index.cfm?gene=EXT1

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population ^ingelesa

Phenocarta ^ingelesa

25 maiatza 2020

trichorhinophalangeal syndrome type II ^ingelesa

Erreferentzia bat

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

2 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

Q16394

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000182197/EFO_0000333

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

exostoses, multiple, type 1 ^ingelesa

3 erreferentzia

ClinGen ^ingelesa

8 abendua 2020

https://search.clinicalgenome.org/kb/gene-validity/0ced1387-c0a8-4f03-bd70-1595cb7683fd--2018-06-04T19:20:29

ClinGen ^ingelesa

25 urtarrila 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ced1387-c0a8-4f03-bd70-1595cb7683fd-2018-06-04T192029.946Z

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000182197/MONDO_0007585

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

human chromosome 8 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

strand orientation ^ingelesa

reverse strand ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic start ^ingelesa

117794490

human chromosome 8 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

118806729

human chromosome 8 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic end ^ingelesa

119124092

human chromosome 8 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

118111826

human chromosome 8 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

cytogenetic location ^ingelesa

8q24.11

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HomoloGene ID ^ingelesa

30957

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Gene Atlas image ^ingelesa

PBB GE EXT1 201995 at fs.png
732 × 530; 11 KB

0 erreferentzia

PBB GE EXT1 214985 at fs.png
732 × 530; 12 KB

0 erreferentzia

Ext1 ^ingelesa

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

30957

Orthologous MAtrix ^ingelesa

https://omabrowser.org/oma/vps/Q16394/

Ext1 ^ingelesa

Arratoi arrunt

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

30957

ttv ^ingelesa

ozpin-euli

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

30957

Orthologous MAtrix ^ingelesa

https://omabrowser.org/oma/vps/Q16394/

ext1b ^ingelesa

Danio rerio

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

30957

Orthologous MAtrix ^ingelesa

https://omabrowser.org/oma/vps/Q16394/

rib-1 ^ingelesa

Caenorhabditis elegans

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

30957

expressed in ^ingelesa

stromal cell of endometrium ^ingelesa

1

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

https://www.bgee.org/gene/ENSG00000182197

saphenous vein ^ingelesa

2

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

https://www.bgee.org/gene/ENSG00000182197

Descending thoracic aorta ^ingelesa

3

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

https://www.bgee.org/gene/ENSG00000182197

ascending aorta ^ingelesa

4

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

https://www.bgee.org/gene/ENSG00000182197

right coronary artery ^ingelesa

5

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

https://www.bgee.org/gene/ENSG00000182197

jejunal mucosa ^ingelesa

6

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

https://www.bgee.org/gene/ENSG00000182197

ventricular zone ^ingelesa

7

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

https://www.bgee.org/gene/ENSG00000182197

popliteal artery ^ingelesa

8

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

https://www.bgee.org/gene/ENSG00000182197

Tibial arteries

9

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

https://www.bgee.org/gene/ENSG00000182197

Duodeno

10

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

https://www.bgee.org/gene/ENSG00000182197

baliokidetasun zehatza

http://identifiers.org/ncbigene/2131

Erreferentzia bat

Identifiers.org ^ingelesa

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

Identifikatzaileak

RNAren identifikatzailea

NM_000127

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

ensembl Release 106 ^ingelesa

Ensembl-ren transkripzio-identifikatzailea

ENST00000437196

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000378204

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000436216

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000684443

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000684189

Erreferentzia bat

ensembl Release 106 ^ingelesa

Freebase-ren identifikatzailea

0 erreferentzia

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HGNC ID ^ingelesa

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NCBI Gene ^ingelesa

15 maiatza 2022

OMIM ID ^ingelesa

608177

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Online Mendelian Inheritance in Man

19 abuztua 2019

UMLS CUI

C0694878

Erreferentzia bat

based on heuristic ^ingelesa

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

UMLS 2023 ^ingelesa