OBSL1, obscurin like cytoskeletal adaptor 1, 23363

N. diseases: 64; N. variants: 13
Disease: Three M Syndrome 2 ×
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