BEST1 (Q18032334)

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protein-coding gene in the species Homo sapiens

ARB
BEST
BMD
RP50
TU15B
VMD2
Bestrophin 1
Best1V1Delta2

Language	Label	Description	Also known as
English	BEST1	protein-coding gene in the species Homo sapiens	ARB BEST BMD RP50 TU15B VMD2 Bestrophin 1 Best1V1Delta2

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000167995

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

1 reference

6 July 2017

UniProt protein ID

genetic association

retinitis pigmentosa 50

1 reference

UniProt protein ID

13 August 2019

bestrophinopathy

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000167995/MONDO_0012733

based on heuristic

inferred from an Open Targets association score over 0.7

Best’s vitelliform macular dystrophy

2 references

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000167995/MONDO_0007931

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000167995/Orphanet_1243

based on heuristic

inferred from an Open Targets association score over 0.7

autosomal dominant vitreoretinochoroidopathy

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000167995/MONDO_0008662

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 11

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

61717293

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

61950063

human chromosome 11

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

61965515

human chromosome 11

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

61732987

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

cytogenetic location

11q12.3

1 reference

15 May 2022

37895

1 reference

15 May 2022

Gene Atlas image

PBB GE BEST1 207671 s at fs.png
732 × 530; 12 KB

0 references

1 reference

HomoloGene build68

37895

1 reference

HomoloGene build68

37895

1 reference

HomoloGene build68

37895

retinal pigment epithelium

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000167995

external globus pallidus

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000167995

inferior olivary nucleus

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000167995

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000167995

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000167995

internal globus pallidus

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000167995

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000167995

subthalamic nucleus

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000167995

caudate nucleus

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000167995

middle frontal gyrus

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000167995

http://identifiers.org/ncbigene/7439

1 reference

Identifiers.org

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

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

15 May 2022

Encyclopædia Britannica Online ID

subject named as

BEST1

0 references

Ensembl gene ID

ENSG00000167995

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

Ensembl transcript ID

ENST00000534553

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

ENST00000378043

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

ENST00000449131

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

ENST00000524877

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

ENST00000524926

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

ENST00000526988

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

ENST00000529265

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

ENST00000533521

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000167995

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(4 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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