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nephrotic syndrome type 15 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:nephrotic syndrome type 15
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Accession:DOID:0080271 term browser browse the term
Definition:A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: MAGI2-RELATED CONDITION;   NPHS15;   nephrotic syndrome 15
 xref: MIM:617609;   MONDO:0033262

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nephrotic syndrome type 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129998720 ATAC-STARR-seq lymphoblastoid silent region 18332 IAGP ClinVar Annotator: match by term: Nephrotic syndrome 15 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:78,019,524...78,019,683 JBrowse link
G N Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chrNW_004624739:27,132,533...28,430,765
Ensembl chrNW_004624739:27,134,993...28,430,686 		JBrowse link
G G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chr21:69,460,345...70,916,684 JBrowse link
G P MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chr 9:100,846,693...102,171,199
Ensembl chr 9:100,847,013...102,170,004 		JBrowse link
G S Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chrNW_004936479:21,373,917...22,062,498
Ensembl chrNW_004936479:21,373,746...21,920,214 		JBrowse link
G D MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chr18:17,973,058...19,098,785
Ensembl chr18:17,918,928...18,930,059 		JBrowse link
G B MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chr 7:69,943,704...71,395,176
Ensembl chr 7:83,758,512...84,760,872 		JBrowse link
G C Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chrNW_004955410:6,739,115...7,295,027
Ensembl chrNW_004955410:6,400,242...7,294,924 		JBrowse link
G R Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chr 4:15,278,518...16,762,427
Ensembl chr 4:14,386,399...15,870,240 		JBrowse link
G M Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chr 5:19,431,787...20,909,790
Ensembl chr 5:19,432,034...20,909,790 		JBrowse link
G H MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome 15
ClinVar Annotator: match by term: MAGI2-related condition
ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15		 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More... NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667 		JBrowse link
G H MAGI2-AS3 MAGI2 antisense RNA 3 IAGP ClinVar Annotator: match by term: Nephrotic syndrome 15
ClinVar Annotator: match by term: MAGI2-related condition		 ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 NCBI chr 7:79,452,957...79,471,208
Ensembl chr 7:79,452,845...79,471,217 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      nephrotic syndrome 1868
        familial nephrotic syndrome 524
          nephrotic syndrome type 15 12
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Urogenital Diseases 59340
        urinary system disease 37137
          kidney disease 23965
            proteinuria 4255
              nephrosis 3011
                nephrotic syndrome 1868
                  familial nephrotic syndrome 524
                    nephrotic syndrome type 15 12
paths to the root