Property Summary

NCBI Gene PubMed Count 9
PubMed Score 5.23
PubTator Score 4.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
urothelial carcinoma -1.100 0.001
osteosarcoma -2.735 0.000
psoriasis -1.100 0.000
progressive supranuclear palsy -1.200 0.023
Breast cancer -1.200 0.000
ovarian cancer -1.100 0.003

Gene RIF (5)

PMID Text
27455018 No significant association of PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTD1-ST18 rs1015213 with primary angle closure glaucoma was found among ethnic Han Chinese from Sichuan
24474268 The three genetic susceptibility loci for primary angle-closure glaucoma did not underlie any major phenotypic diversity in terms of disease severity or progression.
23847314 In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated significantly with primary angle closure.
23505305 Presence of at least one A allele (AG or AA genotype) for rs1015213 was associated with a shallower anterior chamber depth (-0.07 mm, 95% CI -0.01 to -0.14 mm, p=0.028) after adjusting for age and sex (both p</=0.001).
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MGGAVSAGEDNDDLIDNLKEAQYIRTERVEQAFRAIDRGDYYLEGYRDNAYKDLAWKHGNIHLSAPCIYS      1 - 70
EVMEALKLQPGLSFLNLGSGTGYLSTMVGLILGPFGINHGIELHSDVVEYAKEKLESFIKNSDSFDKFEF     71 - 140
CEPAFVVGNCLQIASDSHQYDRIYCGAGVQKDHENYMKILLKVGGILVMPIEDQLTQIMRTGQNTWESKN    141 - 210
ILAVSFAPLVQPSKNDNGKPDSVGLPPCAVRNLQDLARIYIRRTLRNFINDEMQAKGIPQRAPPKRKRKR    211 - 280
VKQRINTYVFVGNQLIPQPLDSEEDEKMEEDNKEEEEKDHNEAMKPEEPPQNLLREKIMKLPLPESLKAY    281 - 350
LTYFRDK                                                                   351 - 357
//

Text Mined References (12)

PMID Year Title
27455018 2016 [Association of PLEKHA7, COL11A1 and PCMTD1-ST18 gene polymorphisms with primary angle closure glaucoma in ethnic Han Chinese from Sichuan].
25807930 2015 Multifunctional reagents for quantitative proteome-wide analysis of protein modification in human cells and dynamic profiling of protein lipidation during vertebrate development.
24474268 2014 Genotype-phenotype correlation analysis for three primary angle closure glaucoma-associated genetic polymorphisms.
23847314 2013 Association study in a South Indian population supports rs1015213 as a risk factor for primary angle closure.
23509962 2013 A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
23505305 2013 Genotype-phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16421571 2006 DNA sequence and analysis of human chromosome 8.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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