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NPHP1 and renal failure are reported together in 3 articles.
Gene
NPHP1
- HGNC
- HGNC:7905
6articles
6mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Renal failure
523articles
523mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
3 records shown · first 60Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing.
PMID 31464256 | DOI 10.4103/1319-2442.265475 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2019 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPHP1 | “Genomic material from the patient, her twin sister, and later on from parents was analyzed for deletion/duplication mutations in the NPHP1 gene using multiplex ligation-dependent probe amplification.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “A 19-year-old female with a learning difficulty, ataxia, and nystagmus was referred to our clinic with advanced chronic kidney disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | CEP290 | “Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing.” | 0.95 | saudi_context_rules_v1 |
Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.
PMID 22982934 | PMCID PMC4154542 | DOI 10.4103/1319-2442.100968 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2012 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPHP1 | “Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “Nephronophthisis (NPHP) is a recessive disorder of the kidney that is the leading genetic cause of end-stage renal failure in children.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “Egypt is a country with a high rate of consanguineous marriages; yet, only a few studies have investigated the clinical and molecular characteristics of NPHP and related ciliopathies in the Egyptian population. We studied 20 children, from 17 independent families, fulfilling the clinical and the ultrasonographic criteria of NPHP.” | 0.80 | saudi_context_rules_v1 |
Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing.
PMID 21658830 | PMCID PMC3291334 | DOI 10.1053/j.ajkd.2011.01.025 · American journal of kidney diseases : the official journal of the National Kidney Foundation · 2011 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPHP1 | “Exome sequence from affected individuals lacked sequence reads from the NPHP1 gene, which is located within this homozygous region.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “In this report, we describe 2 consanguineous Saudi Arabian families in which individuals presented with kidney failure and mixed clinical and histologic features initially believed to be consistent with focal segmental glomerulosclerosis.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing. In this report, we describe 2 consanguineous Saudi Arabian families in which individuals presented with kidney failure and mixed clinical and histologic features initially believed to be consistent with focal segmental glomerulosclerosis. SETTING & PARTICIPANTS: We studied members of 2 apparently unrelated families from Saudi Arabia with kidney disease.” | 0.95 | saudi_context_rules_v1 |