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 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 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 Biomarker disease MGD We also show that, as found in SIOD patients, deficiency of the SMARCAL1 orthologs alone is insufficient to cause disease in fruit flies and mice, although such deficiency causes modest diffuse alterations in gene expression. 22378147 2012
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 Biomarker disease BEFREE Here we report that the ZRANB3 translocase, a SNF2 family member related to the SIOD disorder SMARCAL1 protein, is recruited by polyubiquitinated PCNA to promote fork restart following replication arrest. 22704558 2012
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease BEFREE Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. 22378147 2012
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 CausalMutation disease CLINVAR Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. 21914180 2011
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 Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient. 20179009 2010
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 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 CausalMutation disease CLINVAR SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 19127206 2009
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 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 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 UNIPROT Furthermore, SIOD patient fibroblasts reconstituted with SMARCAL1 exhibit faster cell cycle progression after S-phase arrest. 19793862 2009
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 CausalMutation disease CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831 2009
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 CausalMutation disease CLINVAR The annealing helicase HARP protects stalled replication forks. 19793864 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 CausalMutation disease CLINVAR 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 AlteredExpression disease BEFREE The renal expression pattern of SMARCAL1 explains a broader spectrum of renal disease in SIOD than previously described. 18356746 2008
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 GeneticVariation disease UNIPROT 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 CausalMutation disease CLINVAR Schimke immunoosseous dysplasia: suggestions of genetic diversity. 17089404 2007
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 CausalMutation disease CLINVAR Schimke immuno-osseous dysplasia: a clinicopathological correlation. 16840568 2007
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1.000 Biomarker disease GENOMICS_ENGLAND Schimke immunoosseous dysplasia: suggestions of genetic diversity. 17089404 2007