Disease: Schimke immunoosseous dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE SMARCAL1 mutations that cause Schimke immunoosseous dysplasia or that inactivate the HARP2 domain abrogate these activities. 22279047 2012
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE For SMARCAL1 mutations a clear genotype-phenotype correlation has been reported: severe SIOD with in utero or early-childhood onset leading to end-stage renal disease within a few years is caused by nonsense, frame shift or splice mutations. 16237566 2005
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 Biomarker disease BEFREE Our results show for the first time that SMARCAL1 binds chromatin in vivo and that SIOD arises from impairment of diverse SMARCAL1 functions. 18805831 2009
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient. 24197801 2014
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 Biomarker disease BEFREE Schimke immuno-osseous dysplasia (SIOD) is caused by SMARCAL1 deficiency and characterized by defective T-cell immunity. 19796992 2009
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 Biomarker disease BEFREE In conclusion, our conditional SMARCAL1 knockdown model in iPSCs may represent a powerful model when studying pathogenetic mechanisms of severe Schimke immuno-osseous dysplasia. 31515241 2019
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Mutations in SMARCAL1 are associated with the disease Schimke immuno-osseous dysplasia, a multisystem autosomal recessive disorder characterized by T cell immunodeficiency, growth inhibition, and renal dysfunction. 19841479 2009
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Analysis of mutant HARP proteins suggests that SIOD is caused by a deficiency in annealing helicase activity. 18974355 2008
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Here we report the identification of a new DNA damage response protein, SMARCAL1 (SWI/SNF-related, matrix associated, actin-dependent regulator of chromatin, subfamily a-like 1), which is a member of the SNF2 family and is mutated in Schimke immunoosseous dysplasia (SIOD). 19793862 2009
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Recently, mutations of SMARCAL1, which encodes a putative chromatin remodelling protein, have been associated with SIOD. 15880370 2005
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 Biomarker disease BEFREE Finally, we determined if Smarcal1(del/del) mice had hypersensitivity to irinotecan (CPT-11), etoposide, and hydroxyurea (HU) and whether exposure to these agents induced features of SIOD. 22888040 2012
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 AlteredExpression disease BEFREE Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD. 22998683 2012
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Furthermore, it illustrates the need to broaden the search for SMARCAL1 mutations in patients with SIOD lacking coding sequence variants. 25943327 2015
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 Biomarker disease BEFREE Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392 2002
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE In addition, previous reported SIOD cases showed excessive enrichment for mutations in the helicase ATP-binding and C-terminal domains of SMARCAL1. 31275356 2019
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 Biomarker disease BEFREE An SIOD-associated SMARCAL1 mutant fails to prevent replication-associated DNA damage from accumulating in cells in which endogenous SMARCAL1 is silenced. 19793861 2009
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient. 27282802 2016
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. 22699664 2012
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 PosttranslationalModification disease BEFREE Our data suggest that loss of SMARCAL1 function in patients may cause DNA replication-associated genome instability that contributes to the pleiotropic phenotypes of SIOD. 21327070 2012
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE SIOD is caused by mutations in the gene SMARCAL1. 24589093 2014
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. 20013129 2010
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE We investigate the mechanistic nature of the Snf2 family protein HARP, mutations of which are responsible for Schimke immuno-osseous dysplasia. 28334870 2017
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE We report a child with SIOD and a novel S859P missense mutation in SMARCAL1 who developed undifferentiated carcinoma of the sinus. 23630135 2013
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Schimke immuno-osseous dysplasia (SIOD) is a pleiotropic disorder caused by mutations in the SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like-1 (SMARCAL1) gene, with multiple clinical features, notably end-stage renal disease. 25319549 2015
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by mutations in SMARCAL1. 26309238 2015