(Q18037108)

English

SMCHD1

protein-coding gene in the species Homo sapiens

structural maintenance of chromosomes flexible hinge domain containing 1
BAMS
FSHD2

In more languages

Statements

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000101596

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

Structural maintenance of chromosomes flexible hinge domain containing 1

1 reference

6 July 2017

UniProt protein ID

genetic association

BOSMA Arhinia Microphthalmia Syndrome

3 references

23 May 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2f2b442-3afa-4427-8e9b-3dc2485790aa-2022-05-20T042139.263Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000101596/MONDO_0011323

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000101596/Orphanet_1135

based on heuristic

inferred from an Open Targets association score over 0.7

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000101596/Orphanet_2250

based on heuristic

inferred from an Open Targets association score over 0.7

facioscapulohumeral muscular dystrophy

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000101596/Orphanet_269

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 18

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

2655737

human chromosome 18

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

2655726

human chromosome 18

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

2805017

human chromosome 18

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

2805015

human chromosome 18

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

cytogenetic location

18p11.32

1 reference

9 January 2022

23665

1 reference

9 January 2022

1 reference

HomoloGene build68

23665

1 reference

HomoloGene build68

23665

1 reference

HomoloGene build68

23665

Achilles tendon

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101596

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101596

bone marrow cells

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101596

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101596

superficial temporal artery

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101596

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101596

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101596

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101596

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101596

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101596

http://identifiers.org/ncbigene/23347

1 reference

Identifiers.org

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

Identifiers

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

Ensembl gene ID

ENSG00000101596

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

Ensembl transcript ID

ENST00000609587

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000320876

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000577300

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000577880

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000581226

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000581383

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000581631

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000581711

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000583344

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000583441

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000583800

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000584897

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000585229

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000645355

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000642953

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000686763

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000685656

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000690757

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000688342

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000684915

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000689034

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000688964

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000688708

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000693522

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000693213

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000686864

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

ENST00000689800

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000101596

Google Knowledge Graph ID

0 references

HGNC gene symbol

1 reference

9 January 2022

1 reference

9 January 2022

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)

enwiki SMCHD1
ptwiki SMCHD1
ttwiki SMCHD1
ukwiki SMCHD1

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)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q18037108&oldid=1971191970"