Disease: Schimke immunoosseous dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607071
rs267607071
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		A 0.800 CausalMutation CLINVAR Smarcal1 promotes double-strand-break repair by nonhomologous end-joining. 26089390 2015
dbSNP: rs267607071
rs267607071
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		A 0.800 CausalMutation CLINVAR Identification and characterization of SMARCAL1 protein complexes. 23671665 2013
dbSNP: rs267607071
rs267607071
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		A 0.800 CausalMutation CLINVAR Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 22998683 2012
dbSNP: rs267607071
rs267607071
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		0.800 GeneticVariation UNIPROT The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart. 19793862 2009
dbSNP: rs267607071
rs267607071
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		A 0.800 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831 2009
dbSNP: rs267607071
rs267607071
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		A 0.800 CausalMutation CLINVAR The annealing helicase HARP protects stalled replication forks. 19793864 2009
dbSNP: rs267607071
rs267607071
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		A 0.800 CausalMutation CLINVAR HARP is an ATP-driven annealing helicase. 18974355 2008
dbSNP: rs267607071
rs267607071
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		0.800 GeneticVariation UNIPROT HARP is an ATP-driven annealing helicase. 18974355 2008
dbSNP: rs267607071
rs267607071
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		0.800 GeneticVariation UNIPROT Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392 2002
dbSNP: rs267607071
rs267607071
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		A 0.800 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392 2002
dbSNP: rs200666300
rs200666300
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		0.710 GeneticVariation BEFREE Finally, we show that the SIOD-associated mutation, R820H, present in motif VI results in loss of ATPase activity, and therefore, reduced response to DNA damage. 29748240 2018
dbSNP: rs200666300
rs200666300
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		0.710 GeneticVariation UNIPROT The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart. 19793862 2009
dbSNP: rs200666300
rs200666300
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		0.710 GeneticVariation UNIPROT HARP is an ATP-driven annealing helicase. 18974355 2008
dbSNP: rs200666300
rs200666300
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		0.710 GeneticVariation UNIPROT Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392 2002
dbSNP: rs119473033
rs119473033
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. 28796785 2017
dbSNP: rs119473033
rs119473033
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). 26499378 2015
dbSNP: rs119473037
rs119473037
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR [SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children]. 25748404 2015
dbSNP: rs119473033
rs119473033
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). 24589093 2014
dbSNP: rs119473033
rs119473033
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 22998683 2012
dbSNP: rs119473037
rs119473037
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 22998683 2012
dbSNP: rs761546902
rs761546902
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		G 0.700 CausalMutation CLINVAR Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 22998683 2012
dbSNP: rs119473033
rs119473033
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. 21914180 2011
dbSNP: rs119473033
rs119473033
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 19127206 2009
dbSNP: rs119473033
rs119473033
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831 2009
dbSNP: rs119473037
rs119473037
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0877024
Disease:
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831 2009