GBA &#160; ingelesa (Q14878770)

ensembl Release 106 ^ingelesa

proteinak kodetzen dituen genea

honen azpiklasea

Erreferentzia bat

NCBI homo sapiens annotation release 107 ^ingelesa

NCBI Gene ^ingelesa

3 urria 2016

Erreferentzia bat

ensembl Release 106 ^ingelesa

kodetzen du

Glucosylceramidase beta ^ingelesa

Erreferentzia bat

UniProt ^ingelesa

16 martxoa 2017

UniProt protein ID ^ingelesa

P04062

genetic association ^ingelesa

Gaucher's disease ^ingelesa

2 erreferentzia

ClinGen ^ingelesa

28 abendua 2020

https://search.clinicalgenome.org/kb/gene-validity/fbc5a876-f97e-4f9c-be99-664e2f6c8470--2020-06-24T16:00:00

ClinGen ^ingelesa

25 urtarrila 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbc5a876-f97e-4f9c-be99-664e2f6c8470-2020-06-24T160000.000Z

Parkinsonen gaixotasun

Erreferentzia bat

ClinGen ^ingelesa

19 maiatza 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9201c03f-10de-447c-9b84-194f14b549b6-2022-05-03T134810.206Z

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome ^ingelesa

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000177628/MONDO_0009268

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Gaucher's disease type I ^ingelesa

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000177628/Orphanet_77259

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Gaucher's disease type II ^ingelesa

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000177628/Orphanet_77260

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Gaucher's disease type III ^ingelesa

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000177628/Orphanet_77261

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^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

155234452

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

155204243

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic end ^ingelesa

155244699

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

155214490

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

cytogenetic location ^ingelesa

1q22

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HomoloGene ID ^ingelesa

68040

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Gene Atlas image ^ingelesa

PBB GE GBA 209093 s at fs.png
732 × 530; 12 KB

0 erreferentzia

PBB GE GBA 210589 s at fs.png
732 × 530; 12 KB

0 erreferentzia

Gba ^ingelesa

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

68040

Orthologous MAtrix ^ingelesa

Gba ^ingelesa

Arratoi arrunt

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

68040

Orthologous MAtrix ^ingelesa

gba-2 ^ingelesa

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

68040

gba-3 ^ingelesa

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

68040

Orthologous MAtrix ^ingelesa

gba ^ingelesa

Danio rerio

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

68040

Orthologous MAtrix ^ingelesa

gba-4 ^ingelesa

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

68040

Orthologous MAtrix ^ingelesa

gba-1 ^ingelesa

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

68040

Orthologous MAtrix ^ingelesa

Gba1a ^ingelesa

ozpin-euli

Erreferentzia bat

Orthologous MAtrix ^ingelesa

Gba1b ^ingelesa

ozpin-euli

Erreferentzia bat

Orthologous MAtrix ^ingelesa

expressed in ^ingelesa

stromal cell of endometrium ^ingelesa

1

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

Langerhansen irla

2

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

karen

3

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

odol

4

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

hipofisi

5

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

adenohipofisi

6

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

bone marrow cells ^ingelesa

7

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

right adrenal gland ^ingelesa

8

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

right adrenal cortex ^ingelesa

9

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

left adrenal gland ^ingelesa

10

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

http://identifiers.org/ncbigene/2629

baliokidetasun zehatza

Erreferentzia bat

Identifiers.org ^ingelesa

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

Identifikatzaileak

RNAren identifikatzailea

NM_000157

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

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

Encyclopædia Britannica Online-ren identifikatzailea

science/glucocerebrosidase

nola izendatua

glucocerebrosidase

0 erreferentzia

ENSG00000262446

Erreferentzia bat

ensembl Release 106 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

Ensembl-ren transkripzio-identifikatzailea

ENST00000327247

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000368373

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000427500

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000428024

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000460156

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000464536

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000467918

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000470104

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000473570

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000478472

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000484489

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000491081

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000493842

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000497670

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000570491

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000618489

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000572338

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000575321

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000573812

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000573492

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000571863

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000574670

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000571897

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000576421

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000570868

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000573998

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000576759

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000574935

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000570340

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000613861

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

606463

Erreferentzia bat

Online Mendelian Inheritance in Man

19 abuztua 2019

UMLS CUI ^ingelesa

C1414998

Erreferentzia bat

based on heuristic ^ingelesa

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

UMLS 2023 ^ingelesa