COL2A1 &#160; ingelesa (Q14877681)

ensembl Release 106 ^ingelesa

proteinak kodetzen dituen genea

honen azpiklasea

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Ensembl Release 87 ^ingelesa

irudia

1u5m.png
394 × 244; 30 KB

0 erreferentzia

Homo sapiens

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ensembl Release 106 ^ingelesa

kodetzen du

Collagen type II alpha 1 chain ^ingelesa

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UniProt ^ingelesa

6 uztaila 2017

UniProt protein ID ^ingelesa

Chondrocalcin ^ingelesa

0 erreferentzia

genetic association ^ingelesa

spondyloepiphyseal dysplasia congenita ^ingelesa

3 erreferentzia

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f217fba-a78c-4f9f-ad2a-301f0d53f046-2021-06-07T170000.000Z

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

ClinGen ^ingelesa

27 abendua 2021

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0008471

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

spondyloepiphyseal dysplasia, Stanescu type ^ingelesa

2 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0014701

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

spondyloepimetaphyseal dysplasia, Strudwick type ^ingelesa

3 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0008476

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/ENSG00000139219/Orphanet_93346

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Legg-Calve-Perthes gaixotasuna

2 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0007885

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Kniest dysplasia ^ingelesa

3 erreferentzia

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25a49ec9-69ab-4e51-a13a-fe1eaa50ae56-2021-12-15T183542.376Z

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

ClinGen ^ingelesa

20 abendua 2021

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0007987

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis ^ingelesa

2 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0011496

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

platyspondylic lethal skeletal dysplasia, Torrance type ^ingelesa

3 erreferentzia

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4c42c43-7b6a-4456-aeb1-7a00302a468b-2021-02-01T180000.000Z

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

ClinGen ^ingelesa

7 otsaila 2022

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0007895

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

multiple epiphyseal dysplasia, Beighton type ^ingelesa

2 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0007562

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Spondyloperipheral dysplasia ^ingelesa

3 erreferentzia

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4da6e1f-5aad-4541-a3ae-76ed4782a023-2022-01-06T154807.494Z

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

ClinGen ^ingelesa

10 urtarrila 2022

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0010078

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Czech dysplasia, metatarsal type ^ingelesa

2 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0012206

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

spondylometaphyseal dysplasia ^ingelesa

2 erreferentzia

ClinGen ^ingelesa

11 maiatza 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5315530-5b3c-42f1-b18c-1884a0b767f6-2021-04-15T170000.000Z

ClinGen ^ingelesa

27 abendua 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5315530-5b3c-42f1-b18c-1884a0b767f6-2021-06-07T160000.000Z

Stickler syndrome type 1 ^ingelesa

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0007160

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Stickler syndrome ^ingelesa

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0019354

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

hypochondrogenesis ^ingelesa

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0019669

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

achondrogenesis type II ^ingelesa

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000139219/Orphanet_93296

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

human chromosome 12 ^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

48366748

human chromosome 12 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

47972967

human chromosome 12 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic end ^ingelesa

48398269

human chromosome 12 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

48004554

human chromosome 12 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

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ensembl Release 106 ^ingelesa

cytogenetic location ^ingelesa

12q13.11

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NCBI Gene ^ingelesa

15 maiatza 2022

HomoloGene ID ^ingelesa

55607

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NCBI Gene ^ingelesa

15 maiatza 2022

Col2a1 ^ingelesa

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

55607

Orthologous MAtrix ^ingelesa

https://omabrowser.org/oma/vps/P02458/

Col2a1 ^ingelesa

Arratoi arrunt

2 erreferentzia

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

55607

Orthologous MAtrix ^ingelesa

https://omabrowser.org/oma/vps/P02458/

col2a1a ^ingelesa

Danio rerio

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HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

55607

col2a1b ^ingelesa

Danio rerio

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Orthologous MAtrix ^ingelesa

https://omabrowser.org/oma/vps/P02458/

expressed in ^ingelesa

Berna-hezur

1

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Bgee ^ingelesa

7 ekaina 2024

cartilage tissue ^ingelesa

2

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Bgee ^ingelesa

7 ekaina 2024

corpus epididymis ^ingelesa

3

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

Trakea

4

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

esperma

5

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

trabecular bone ^ingelesa

6

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

tail of epididymis ^ingelesa

7

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

Barrabil

8

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

hipofisi

9

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

Gonada

10

Erreferentzia bat

Bgee ^ingelesa

7 ekaina 2024

http://identifiers.org/ncbigene/1280

baliokidetasun zehatza

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Identifiers.org ^ingelesa

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

Identifikatzaileak

RNAren identifikatzailea

NM_001844

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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

10 apirila 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

ensembl Release 106 ^ingelesa

Ensembl-ren transkripzio-identifikatzailea

ENST00000546974

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000337299

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000380518

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000465743

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000466884

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000474996

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000483376

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000490609

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000493991

Erreferentzia bat

ensembl Release 106 ^ingelesa

GARD rare disease ID ^ingelesa

9246

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

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NCBI Gene ^ingelesa

15 maiatza 2022

HGNC ID ^ingelesa

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Mondo ID ^ingelesa

MONDO_0022800

0 erreferentzia

OMIM ID ^ingelesa

120140

mapping relation type ^ingelesa

close match ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

MONDO_0022800

UMLS CUI

C2931073

mapping relation type ^ingelesa

close match ^ingelesa

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Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

MONDO_0022800

C1413580

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based on heuristic ^ingelesa

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

UMLS 2023 ^ingelesa