LIMK1, LIM domain kinase 1, 3984

N. diseases: 271; N. variants: 3
Disease: Williams Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease BEFREE For between-group analyses, differences in intraparietal sulcus resting-state functional connectivity were calculated comparing children with Williams syndrome to matched typically developing children and comparing LIMK1 haplotype groups in each of the three general population cohorts separately. 31687737 2019
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease BEFREE Deletion of the LIMK1 gene is associated with Williams syndrome, a unique neurodevelopmental disorder characterized by severe defects in visuospatial cognition and long-term memory (LTM). 25645926 2015
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease BEFREE Here, we report the phenotypic and molecular characterization of a girl with a de novo 81.8 kb deletion in the WBS critical region, which involves the ELN and LIMK1 genes only. 24246242 2014
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease BEFREE Williams syndrome (WS), a rare disorder caused by a hemizygous deletion on chromosome 7q11.23, including genes important for neuronal migration and maturation (LIMK1 and CLIP2), is typified by a remarkable hypersocial but anxious personality and offers a unique opportunity to investigate this open issue. 22411788 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease BEFREE Our findings indicate that spatial deficits associated with WS also affect large-scale spatial processing and suggest that hemizygous deletion of LIMK1 is not sufficient to account for any of the spatial deficits associated with WS. 19662944 2009
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Standard cytogenetic analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome. 19012340 2008
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE The hemideletion of approximately 25 genes on chromosome 7q11.23 that causes Williams syndrome (WS) includes genes that regulate cytoskeletal dynamics in neurons, especially LIMK1 and CYLN2, and therefore offers the opportunity to investigate the role of these genes in the formation of white matter tracts. 17827280 2007
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE To determine the role of LIMK1 in the highly penetrant visuospatial deficits associated with classic WS, it is essential to investigate the discrepancies between the two studies. 16216290 2006
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE These data demonstrate abnormalities in HF in WS in agreement with murine models, implicate LIMK1 and CYLN2 in human hippocampal function, and suggest that hippocampal dysfunction may contribute to neurocognitive abnormalities in WS. 15951840 2005
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE In this review, we discuss the properties of LIMK and CLIP family proteins, their function in the regulation of the actin and microtubule cytoskeletal systems, respectively, and the relationship with neurodevelopmental aspects of Williams Syndrome. 14745832 2004
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease MGD In addition, abnormal expression of LIMK-1 is associated with Williams syndrome, a mental disorder with profound deficits in visuospatial cognition. 12123613 2002
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease BEFREE Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. 11003705 2000
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE A cognitive phenotypic map of WMS is presented, which combines previous data with five further WMS subjects and three atypical WMS subjects with deletions; two larger (deleted for D7S489L) and one smaller, deleted for genes telomeric to FZD9, through LIMK1, but not WSCR1 or telomeric. 10953236 2000
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Our results suggest that neither LIMK1 hemizygosity (contrary to a previous report) nor STX1A hemizygosity is likely to contribute to any part of the WS phenotype, and they emphasize the importance of such patients for dissecting subtle but highly penetrant phenotypes. 9915950 1999
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Heteroduplex analysis for LIMK1, a candidate gene previously implicated in the WS phenotype, did not show any mutations in our WS patients not deleted for ELN. 9637430 1998
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND