OBSL1, obscurin like cytoskeletal adaptor 1, 23363

N. diseases: 64; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2752041
Disease: Three M Syndrome 2
Three M Syndrome 2 		0.610 CausalMutation disease CLINVAR Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. 25923536 2015
CUI: C2752041
Disease: Three M Syndrome 2
Three M Syndrome 2 		0.610 GeneticVariation disease BEFREE Whole-exome sequencing and genome-wide homozygosity mapping revealed a previously reported frameshift mutation in the OBSL1 gene (c.1273insA p.T425nfsX40), consistent with a diagnosis of 3-M Syndrome 2 (OMIM #612921), which had not been anticipated from the clinical findings. 25923536 2015
CUI: C2752041
Disease: Three M Syndrome 2
Three M Syndrome 2 		0.610 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. 21737058 2011
CUI: C2752041
Disease: Three M Syndrome 2
Three M Syndrome 2 		0.610 CausalMutation disease CLINVAR OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. 19877176 2010
CUI: C2752041
Disease: Three M Syndrome 2
Three M Syndrome 2 		0.610 CausalMutation disease CLINVAR The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. 19481195 2009
CUI: C2752041
Disease: Three M Syndrome 2
Three M Syndrome 2 		0.610 Biomarker disease GENOMICS_ENGLAND The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. 19481195 2009
CUI: C2752041
Disease: Three M Syndrome 2
Three M Syndrome 2 		0.610 Biomarker disease GENOMICS_ENGLAND The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. 19481195 2009
CUI: C2752041
Disease: Three M Syndrome 2
Three M Syndrome 2 		0.610 Biomarker disease CTD_human
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 GeneticVariation disease BEFREE A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene. 27796265 2017
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 Biomarker disease BEFREE Three genes, cullin 7 (CUL7), coiled-coil domain containing 8, and obscurin-like 1 are genetic candidates of 3-M syndrome. 26488604 2016
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 GeneticVariation disease BEFREE Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. 25923536 2015
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 GeneticVariation disease BEFREE Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. 23457316 2013
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 GeneticVariation disease BEFREE 3M syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation that was recently reported to involve mutations in the CUL7 or obscurin-like 1 (OBSL1) genes. 21166787 2011
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 Biomarker disease BEFREE The mapped regions contained CUL7 and OBSL1, the genes that have recently been shown to cause 3-M syndrome. 21548126 2011
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 GeneticVariation disease BEFREE CUL7 appears to be the major gene responsible for 3M syndrome accounting for 77.5% of cases while OBSL1 mutations accounts for 16.3%. 21396581 2011
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 GeneticVariation disease BEFREE 3-M syndrome, a primordial growth disorder, is associated with mutations in CUL7 and OBSL1. 21737058 2011
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 GeneticVariation disease BEFREE OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. 19877176 2010
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.200 Biomarker disease BEFREE The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. 19481195 2009
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene. 27796265 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. 23457316 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019