Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“Genetic testing (performed in 59/60 patients, 98.3%) identified pathogenic variants in 44 patients (74.6%); NPHS2 was most prevalent (28.8%).”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“Monogenic variants drive low recurrence risk in pediatric steroid-resistant nephrotic syndrome after kidney transplantation: a high-consanguinity cohort.”	0.98	phenotype_alias_lexicon_v2
phenotype	renal failure	“BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of stage 5 chronic kidney disease (CKD 5) in children and carries a substantial risk of post-transplant disease recurrence.”	0.93	phenotype_alias_lexicon_v2
population	Population	“Monogenic variants drive low recurrence risk in pediatric steroid-resistant nephrotic syndrome after kidney transplantation: a high-consanguinity cohort. Genetic testing (performed in 59/60 patients, 98.3%) identified pathogenic variants in 44 patients (74.6%); NPHS2 was most prevalent (28.8%). CONCLUSIONS: SRNS/FSGS accounts for approximately 29% of paediatric CKD 5 in this cohort and is characterised by a high prevalence of monogenic variants reflecting regional consanguinity.”	0.80	saudi_context_rules_v1

Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.

PMID 37670083 | PMCID PMC10979458 | DOI 10.1007/s00467-023-06134-2 · Pediatric nephrology (Berlin, Germany) · 2024 · 4 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.”	0.98	phenotype_alias_lexicon_v2
gene	PLCE1	“Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.”	0.98	hgnc_dict_v1
phenotype	renal failure	“BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of kidney failure in children and adults under the age of 20 years.”	0.93	phenotype_alias_lexicon_v2

NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.

PMID 32129207 | DOI 10.4103/1319-2442.279934 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2020 · 9 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.”	0.98	phenotype_alias_lexicon_v2
phenotype	renal failure	“Steroid- resistant NS (SRNS) is defined by resistance to standard steroid therapy, and it continues to be one of the most common causes of chronic renal failure.”	0.98	phenotype_alias_lexicon_v2
variant	p.Val290Met	“Two patients had p.Val290Met homozygous mutation; two had p.Arg229Gln homozygous mutations; and one each had p.Pro20Leu homozygote, p.Leu169Pro homozygote, p.Arg138Gln homozygote, and p.Arg168His homozygous mutations.”	0.95	hgvs_regex_v1

Genetic screening in children with challenging nephrotic syndrome.

PMID 33565430 | DOI 10.4103/1319-2442.308327 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2020 · 4 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“All cases were screened for NPHS2 and WT1 mutations by direct sequencing of all exons of the genes.”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“Genetic screening in children with challenging nephrotic syndrome.”	0.98	phenotype_alias_lexicon_v2
gene	WT1	“All cases were screened for NPHS2 and WT1 mutations by direct sequencing of all exons of the genes.”	0.98	hgnc_dict_v1
gene	NPHS1	“In addition, all patients who were diagnosed during the first three months of life were screened for NPHS1 mutations too.”	0.98	hgnc_dict_v1

Genetics of congenital and infantile nephrotic syndrome.

PMID 30721404 | DOI 10.1007/s12519-018-00224-0 · World journal of pediatrics : WJP · 2019 · 9 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“An underlying causative homozygous mutation was detected in 18 children (90%): NPHS1 (9), NPHS2(2), LAMB2(3), PLCE1(1), WT1(1), and ITSN1 novel mutation (2).”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“Genetics of congenital and infantile nephrotic syndrome.”	0.98	phenotype_alias_lexicon_v2
gene	INS	“BACKGROUND: Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene mutations.”	0.98	hgnc_dict_v1
gene	NPHS1	“An underlying causative homozygous mutation was detected in 18 children (90%): NPHS1 (9), NPHS2(2), LAMB2(3), PLCE1(1), WT1(1), and ITSN1 novel mutation (2).”	0.98	hgnc_dict_v1

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

PMID 25349199 | PMCID PMC4446877 | DOI 10.1681/ASN.2014050489 · Journal of the American Society of Nephrology : JASN · 2015 · 4 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS.”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.”	0.98	phenotype_alias_lexicon_v2
gene	WT1	“We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS.”	0.98	hgnc_dict_v1
gene	PLCE1	“For PLCE1, specific mutations correlated with age of onset.”	0.98	hgnc_dict_v1

mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.

PMID 24969201 | DOI 10.4103/1319-2442.135180 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2014 · 5 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“NPHS2 mutations are associated with steroid-resistant nephrotic syndrome (SRNS), with the pathologic variant being focal and segmental glomerulosclerosis (FSGS), an emerging cause of end-stage renal disease in children.”	0.98	phenotype_alias_lexicon_v2
phenotype	renal failure	“NPHS2 mutations are associated with steroid-resistant nephrotic syndrome (SRNS), with the pathologic variant being focal and segmental glomerulosclerosis (FSGS), an emerging cause of end-stage renal disease in children.”	0.93	phenotype_alias_lexicon_v2
phenotype	familial hypercholesterolemia	“Onset occurred at the age of seven years, with edema, hypo-proteinemia, hypoalbuminemia, hypercholesterolemia, hypertriglyceridemia and nephrotic proteinuria.”	0.93	phenotype_alias_lexicon_v2

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

PMID 23595123 | DOI 10.1038/jhg.2013.27 · Journal of human genetics · 2013 · 12 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.”	0.98	phenotype_alias_lexicon_v2
gene	NPHS1	“To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).”	0.98	hgnc_dict_v1
gene	LAMB2	“To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).”	0.98	hgnc_dict_v1

Does NPHS1 polymorphism modulate P118l mutation in NPHS2?

PMID 24231487 | DOI 10.4103/1319-2442.121300 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2013 · 5 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“Does NPHS1 polymorphism modulate P118l mutation in NPHS2?”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“Nephrotic syndrome (NS) in the first year of life is uncommon and makes up a heterogeneous group of disorders.”	0.98	phenotype_alias_lexicon_v2
gene	NPHS1	“Does NPHS1 polymorphism modulate P118l mutation in NPHS2?”	0.98	hgnc_dict_v1
variant	E117K	“We report a child aged 4 months with steroid-resistant NS who had polymorphism of NPHS1 (E117K) and mutation of NPHS2 (P118L).”	0.82	literature_variant_regex_v2

Steroid-resistant nephrotic syndrome: impact of genetic testing.

PMID 24413855 | PMCID PMC6074900 | DOI 10.5144/0256-4947.2013.533 · Annals of Saudi medicine · 2013 · 5 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“BACKGROUND AND OBJECTIVES: Mutations in several genes are known to cause steroid-resistant nephrotic syndome (SRNS), most commonly in NPHS1, NPHS2, and WT1.”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“Steroid-resistant nephrotic syndrome: impact of genetic testing.”	0.98	phenotype_alias_lexicon_v2
gene	NPHS1	“BACKGROUND AND OBJECTIVES: Mutations in several genes are known to cause steroid-resistant nephrotic syndome (SRNS), most commonly in NPHS1, NPHS2, and WT1.”	0.98	hgnc_dict_v1
gene	WT1	“BACKGROUND AND OBJECTIVES: Mutations in several genes are known to cause steroid-resistant nephrotic syndome (SRNS), most commonly in NPHS1, NPHS2, and WT1.”	0.98	hgnc_dict_v1

Rituximab for refractory cases of childhood nephrotic syndrome.

PMID 21279725 | DOI 10.1007/s00467-011-1778-0 · Pediatric nephrology (Berlin, Germany) · 2011 · 3 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“NPHS2 genetic mutation was negative in all of them.”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“Rituximab for refractory cases of childhood nephrotic syndrome.”	0.98	phenotype_alias_lexicon_v2
gene	CD19	“All patients received a single dose of rituximab (375 mg/m(2)) and achieved complete B cell depletion as CD19 was <1% for 3 months following rituximab infusion.”	0.98	hgnc_dict_v1

A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.

PMID 25949463 | PMCID PMC4421432 | DOI 10.1093/ndtplus/sfq149 · NDT plus · 2010 · 6 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.”	0.98	phenotype_alias_lexicon_v2
gene	NPHS1	“Additional mutations in related genes NPHS1, PLCE1 and NEPH1 were not identified, excluding tri-allelism within these genes in this family.”	0.98	hgnc_dict_v1
gene	PLCE1	“Additional mutations in related genes NPHS1, PLCE1 and NEPH1 were not identified, excluding tri-allelism within these genes in this family.”	0.98	hgnc_dict_v1

Simultaneous onset of steroid resistant nephrotic syndrome and IDDM in two young children.

PMID 22798086 | PMCID PMC3030072 | DOI 10.1136/bcr.04.2010.2916 · BMJ case reports · 2010 · 4 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NPHS2	“Tests for NPHS2 and WT1 genetic mutations were negative in both patients.”	0.98	hgnc_dict_v1
phenotype	nephrotic syndrome	“Simultaneous onset of steroid resistant nephrotic syndrome and IDDM in two young children.”	0.98	phenotype_alias_lexicon_v2
gene	WT1	“Tests for NPHS2 and WT1 genetic mutations were negative in both patients.”	0.98	hgnc_dict_v1
phenotype	diabetes mellitus	“The cases are reported of two young children who developed insulin-dependent diabetes mellitus (IDDM) within 2 weeks of receiving a diagnosis of nephrotic syndrome.”	0.98	phenotype_alias_lexicon_v2