Gene: BBS9

Alternate names for this Gene: B1|C18|D1|PTHB1

Gene Summary: This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.3

Description of this Gene: Bardet-Biedl syndrome 9

Type of Gene: protein-coding

rs17170187 in BBS9 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs202162020 in BBS9 gene and Age related macular degeneration PMID 29346644 2018 Genome-wide analysis of disease progression in age-related macular degeneration.

rs137852857 in BBS9 gene and BARDET-BIEDL SYNDROME 9 PMID 26085087 2015 Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).

PMID 16380913 2005 Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

PMID 26518167 2015 Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

rs137852856 in BBS9 gene and Bardet-Biedl Syndrome PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 16380913 2005 Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

rs10232036 in BBS9 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10262995 in BBS9 gene and Creatinine measurement, serum (procedure) PMID 26083657 2015 Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.

rs6462481 in BBS9 gene and Forced expiratory volume function PMID 26423011 2015 Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

rs4720118 in BBS9 gene and Leprosy PMID 27976721 2016 A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy.

rs1421344 in BBS9 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs117742456 in BBS9 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs117742456 in BBS9 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17170187 in BBS9 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs10262453 in BBS9 gene and Sagittal craniosynostosis PMID 23160099 2012 A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

rs10262453 in BBS9 gene and Scaphycephaly PMID 23160099 2012 A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

rs3815652 in BBS9 gene and Secondary malignant neoplasm of colon and/or rectum PMID 30738427 2019 A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer.

rs17786463 in BBS9 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs1362227 in BBS9 gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

rs3815652 in BBS9 gene and Tryptophan measurement PMID 29395996 2018 Cerebral tryptophan metabolism and outcome of tuberculous meningitis: an observational cohort study.

rs3815652 in BBS9 gene and Tuberculosis, Meningeal PMID 29395996 2018 Cerebral tryptophan metabolism and outcome of tuberculous meningitis: an observational cohort study.

rs6948754 in BBS9 gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

PMID 29596498 2018 Analyses of genome wide association data, cytokines, and gene expression in African-Americans with benign ethnic neutropenia.