Gene: SCAPER

Alternate names for this Gene: IDDRP|MSTP063|ZNF291|Zfp291

Gene Summary:

Gene is located in Chromosome: 15

Location in Chromosome : 15q24.3

Description of this Gene: S-phase cyclin A associated protein in the ER

Type of Gene: protein-coding

rs1555447569 in SCAPER gene and Attention deficit hyperactivity disorder PMID 28794130 2017 Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

rs1567499068 in SCAPER gene and Brachydactyly PMID 30723319 2019 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

rs2056544 in SCAPER gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

rs166906 in SCAPER gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs10851889 in SCAPER gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs1555447569 in SCAPER gene and Moderate intellectual disability PMID 28794130 2017 Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

rs1567499068 in SCAPER gene and Obesity PMID 30723319 2019 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

rs1567499068 in SCAPER gene and Poor school performance PMID 30723319 2019 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

rs140802894 in SCAPER gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs140802894 in SCAPER gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1555558169 in SCAPER gene and Retinitis Pigmentosa PMID 28794130 2017 Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

rs1567499068 in SCAPER gene and Short stature PMID 30723319 2019 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

rs1567499068 in SCAPER gene and Speech Disorders PMID 30723319 2019 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

rs494268 in SCAPER gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs1567499068 in SCAPER gene and obsolete Peripheral retinopathy PMID 30723319 2019 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

rs1555447569 in SCAPER gene and obsolete Rod-cone dystrophy PMID 28794130 2017 Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.