Property Summary

NCBI Gene PubMed Count 20
Grant Count 5
R01 Count 4
Funding $8,276,255.99
PubMed Score 10.56
PubTator Score 26.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
sonic hedgehog group medulloblastoma 2.400 0.000
pituitary cancer 1.900 0.007

Synonym

Accession Q9BXS0 A8MPZ6 Q9BXR9
Symbols AMY
CLAC
CLACP
CFEOM5
CLAC-P

Gene

Gene RIF (14)

PMID Text
26486031 We highlight phenotypes of the 4 affected children from the 2 reported families: isolated congenital ptosis (one unilateral, one bilateral) and Duane syndrome (one unilateral, one bilateral) with synergistic divergence.
25500261 We identified COL25A1 mutations as a cause of autosomal-recessive congenital cranial dysinnervation disorder.
23018867 COL25A1 methylation correlates with severity of cervical intraepithelial neoplasia
22297151 The COL25A1 single nucleotide polymorphism rs13134663 was significantly associated with antisocial personality disorder, especially in subjects with comorbid substance dependence.
21688384 The next best locus for gene x gender interactions for age at onset was in COL25A1 gene at 4q25
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20332099 Observational study of gene-disease association. (HuGE Navigator)
19548013 COL25A1 leads to Alzheimer's disease-like pathology in vivo
18501477 provides genetic evidence of association between COL25A1 and risk for Alzheimer's disease
18501477 Observational study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAK      1 - 70
GAPSIHLLPDTLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREAPSECNCPAGPPGKRGKRGRRGESGPP     71 - 140
GQPGPQGPPGPKGDKGEQGDQGPRMVFPKINHGFLSADQQLIKRRLIKGDQGQAGPPGPPGPPGPRGPPG    141 - 210
DTGKDGPRGMPGVPGEPGKPGEQGLMGPLGPPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGE    211 - 280
PGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESGRPGQKGEPGLPGLPGLPGIKGEPGFIGPQG    281 - 350
EPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGKQGESGTRGPKGSKGDRGEKGDSGAQGPRGPPGQK    351 - 420
GDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDP    421 - 490
GMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGTDGPMGP    491 - 560
HGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPGPRGEKGDLGEKGEKGFRGVKGEKGEPGQP    561 - 630
GLDGLDAPCQLGPDGLPMPGCWQK                                                  631 - 654
//

Text Mined References (21)

PMID Year Title
26486031 2015 Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.
25500261 2015 Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
25133637 2014 Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults.
23018867 2012 Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia.
22297151 2012 Association of COL25A1 with comorbid antisocial personality disorder and substance dependence.
21688384 2011 Genome-wide association analysis of age at onset in schizophrenia in a European-American sample.
21408207 2011 Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20332099 2010 A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
19548013 2010 COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo.
More...