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PMID 32011449 | PMCID PMC7220318 | DOI 10.1097/MD.0000000000018722 · Medicine · 2020 · 6 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	rs4821480	“The prevalence of risk factors of chronic kidney disease in Saudi Arabia has augmented an already serious public health problem, therefore, determination of genetic variants associated with the risk of the disease presents potential screening tools that help reducing the incidence rates and promote effective disease management.The aim of the present study is to determine the association of UMOD and MYH9 genetic variants with the risk of non-diabetic end-stage renal disease (ESRD) in the Saudi population.Two single nucleotide polymorphisms (SNP), rs12917707 in gene UMOD and rs4821480 in gene MYH9 were genotyped in 154 non-diabetic ESRD Saudi patients and 123 age-matched healthy controls using Primers and Polymerase chain reaction conditions (PCR), Sanger sequencing, and TaqMan Pre-designed SNP Genotyping Assay.”	0.90	hgvs_regex_v1
gene	MYH9	“Non-diabetic end-stage renal disease in Saudis associated with polymorphism of MYH9 gene but not UMOD gene.”	0.98	hgnc_dict_v1
gene	UMOD	“Non-diabetic end-stage renal disease in Saudis associated with polymorphism of MYH9 gene but not UMOD gene.”	0.98	hgnc_dict_v1
phenotype	renal failure	“Non-diabetic end-stage renal disease in Saudis associated with polymorphism of MYH9 gene but not UMOD gene.”	0.93	phenotype_alias_lexicon_v2

PMID 31534799 | PMCID PMC6724424 | DOI 10.1155/2019/1095215 · International journal of nephrology · 2019 · 14 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	rs4821480	“Eight polymorphisms (SHROOM3-rs9992101, rs17319721; SLC7A9-rs4805834; MYH9-rs4821480, rs4821481, rs2032487, rs3752462; CST3-rs13038305) were genotyped using TaqMan assay, and the haplotype analysis was done using the HaploView 4.2 software.”	0.90	hgvs_regex_v1
gene	SHROOM3	“Single-nucleotide polymorphisms at the proximity of SHROOM3, CST3, SLC7A9, and MYH9 genes have been associated with an increased risk of developing CKD and ESRD.”	0.98	hgnc_dict_v1
gene	CST3	“Single-nucleotide polymorphisms at the proximity of SHROOM3, CST3, SLC7A9, and MYH9 genes have been associated with an increased risk of developing CKD and ESRD.”	0.98	hgnc_dict_v1
gene	SLC7A9	“Single-nucleotide polymorphisms at the proximity of SHROOM3, CST3, SLC7A9, and MYH9 genes have been associated with an increased risk of developing CKD and ESRD.”	0.98	hgnc_dict_v1

PMID 29665793 | PMCID PMC5905143 | DOI 10.1186/s12882-018-0890-9 · BMC nephrology · 2018 · 8 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	rs4821480	“One variant, rs4821480, in MYH9 was significantly associated with increased risk of development of CKD (OR = 1.69, 95% CI 1.22-2.36, P = 0.002), but the additional variants were not statistically significant given our modest sample size.”	0.90	hgvs_regex_v1
gene	SHROOM3	“METHODS: Eight genetic variants in four genes (SHROOM3, MYH9, SLC7A9, and CST3) were genotyped in 160 CKD patients and 189 ethnicity-matched healthy controls.”	0.98	hgnc_dict_v1
gene	MYH9	“METHODS: Eight genetic variants in four genes (SHROOM3, MYH9, SLC7A9, and CST3) were genotyped in 160 CKD patients and 189 ethnicity-matched healthy controls.”	0.98	hgnc_dict_v1
gene	SLC7A9	“METHODS: Eight genetic variants in four genes (SHROOM3, MYH9, SLC7A9, and CST3) were genotyped in 160 CKD patients and 189 ethnicity-matched healthy controls.”	0.98	hgnc_dict_v1