Identity
HGNC
LOCATION
4q25
LOCUSID
ALIAS
AMY,CFEOM5,CLAC,CLAC-P,CLACP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84570
MIM: 610004
HGNC: 18603
Ensembl: ENSG00000188517
Variants:
dbSNP: 84570
ClinVar: 84570
TCGA: ENSG00000188517
COSMIC: COL25A1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35077597 | 2022 | Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. | 6 |
| 35077597 | 2022 | Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. | 6 |
| 33287899 | 2020 | Collagenous Alzheimer amyloid plaque component impacts on the compaction of amyloid-β plaques. | 8 |
| 33287899 | 2020 | Collagenous Alzheimer amyloid plaque component impacts on the compaction of amyloid-β plaques. | 8 |
| 25500261 | 2015 | Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. | 21 |
| 26486031 | 2015 | Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence. | 7 |
| 25500261 | 2015 | Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. | 21 |
| 26486031 | 2015 | Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence. | 7 |
| 22297151 | 2012 | Association of COL25A1 with comorbid antisocial personality disorder and substance dependence. | 8 |
| 23018867 | 2012 | Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia. | 26 |
| 22297151 | 2012 | Association of COL25A1 with comorbid antisocial personality disorder and substance dependence. | 8 |
| 23018867 | 2012 | Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia. | 26 |
| 21688384 | 2011 | Genome-wide association analysis of age at onset in schizophrenia in a European-American sample. | 14 |
| 21688384 | 2011 | Genome-wide association analysis of age at onset in schizophrenia in a European-American sample. | 14 |
| 18501477 | 2010 | Genetic association to the amyloid plaque associated protein gene COL25A1 in Alzheimer's disease. | 19 |
Citation
Dessen P
COL25A1 (collagen type XXV alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40124/col25a1
