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ONTOLOGY REPORT - ANNOTATIONS


Term:familial nephrotic syndrome
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Accession:DOID:2590 term browser browse the term
Definition:A nephrotic syndrome that has_material_basis_in genetic mutations. (DO)
Synonyms:exact_synonym: CNF;   congenital nephrosis;   congenital nephrotic syndrome;   hereditary nephrotic syndrome;   hereditary nephrotic syndromes
 primary_id: MESH:C535761
 xref: ICD10CM:N04;   NCI:C35337;   OMIM:PS256300
For additional species annotation, visit the Alliance of Genome Resources.


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familial nephrotic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link 10 10,539,930 10,550,178 RGD:8554872
G Kirrel2 kirre like nephrin family adhesion molecule 2 JBrowse link 1 88,909,829 88,921,154 RGD:8554872
G Nphs1 NPHS1 adhesion molecule, nephrin JBrowse link 1 88,922,346 88,950,560 RGD:8554872
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link 13 73,929,136 73,941,522 RGD:8554872
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:8554872
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207147
nephrotic syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link 10 10,539,930 10,550,178 RGD:8554872
G Arhgdia Rho GDP dissociation inhibitor alpha JBrowse link 10 109,754,012 109,757,506 RGD:8554872
G Axdnd1 axonemal dynein light chain domain containing 1 JBrowse link 13 73,950,422 74,025,237 RGD:8554872
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:7248412
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:8554872
G Kirrel2 kirre like nephrin family adhesion molecule 2 JBrowse link 1 88,909,829 88,921,154 RGD:8554872
G Nphs1 NPHS1 adhesion molecule, nephrin JBrowse link 1 88,922,346 88,950,560 RGD:737766
RGD:8554872
RGD:7240710
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link 13 73,929,136 73,941,522 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
nephrotic syndrome type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emp2 epithelial membrane protein 2 JBrowse link 10 5,433,248 5,467,840 RGD:7240710
RGD:8554872
nephrotic syndrome type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup107 nucleoporin 107 JBrowse link 7 60,781,724 60,825,225 RGD:8554872
RGD:7240710
nephrotic syndrome type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup93 nucleoporin 93 JBrowse link 19 11,159,769 11,263,980 RGD:8554872
RGD:7240710
nephrotic syndrome type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup205 nucleoporin 205 JBrowse link 4 62,703,779 62,773,931 RGD:8554872
RGD:7240710
nephrotic syndrome type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgpl1 sphingosine-1-phosphate lyase 1 JBrowse link 20 30,699,936 30,769,178 RGD:8554872
RGD:7240710
nephrotic syndrome type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 JBrowse link 4 10,995,241 12,472,423 RGD:8554872
RGD:7240710
nephrotic syndrome type 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kank2 KN motif and ankyrin repeat domains 2 JBrowse link 8 22,792,000 22,821,459 RGD:8554872
RGD:7240710
nephrotic syndrome type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 JBrowse link 10 104,137,655 104,156,576 RGD:8554872
G Nup85 nucleoporin 85 JBrowse link 10 104,118,999 104,137,258 RGD:8554872
RGD:7240710
nephrotic syndrome type 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup133 nucleoporin 133 JBrowse link 19 56,681,965 56,731,404 RGD:7240710
RGD:8554872
nephrotic syndrome type 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup160 nucleoporin 160 JBrowse link 3 79,496,239 79,562,163 RGD:7240710
RGD:8554872
nephrotic syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anxa5 annexin A5 JBrowse link 2 123,162,477 123,194,730 RGD:7242031
G Avil advillin JBrowse link 7 70,292,565 70,310,588 RGD:8554872
G Axdnd1 axonemal dynein light chain domain containing 1 JBrowse link 13 73,950,422 74,025,237 RGD:8554872
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:8554872
G Crb2 crumbs cell polarity complex component 2 JBrowse link 3 22,037,812 22,061,247 RGD:8554872
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link 13 73,929,136 73,941,522 RGD:7240710
RGD:8554872
RGD:11554173
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:7174729
G Nup205 nucleoporin 205 JBrowse link 4 62,703,779 62,773,931 RGD:11554173
G Nup93 nucleoporin 93 JBrowse link 19 11,159,769 11,263,980 RGD:11554173
G Pla2g7 phospholipase A2 group VII JBrowse link 9 19,935,754 19,978,013 RGD:7248793
G Plce1 phospholipase C, epsilon 1 JBrowse link 1 257,156,023 257,465,440 RGD:7257521
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:7247446
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:8554872
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:8554872
G Xpo5 exportin 5 JBrowse link 9 17,125,201 17,163,170 RGD:11554173
nephrotic syndrome type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d8b TBC1 domain family member 8B JBrowse link X 110,894,831 110,983,269 RGD:7240710
RGD:8554872
Nephrotic Syndrome Type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Avil advillin JBrowse link 7 70,292,565 70,310,588 RGD:8554872
RGD:7240710
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:8554872
nephrotic syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Noc3l NOC3-like DNA replication regulator JBrowse link 1 257,469,538 257,498,844 RGD:8554872
G Plce1 phospholipase C, epsilon 1 JBrowse link 1 257,156,023 257,465,440 RGD:7240710
RGD:8554872
nephrotic syndrome type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:7240710
RGD:8554872
nephrotic syndrome type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb2 laminin subunit beta 2 JBrowse link 8 117,268,335 117,280,517 RGD:7240710
RGD:8554872
nephrotic syndrome type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpro protein tyrosine phosphatase, receptor type, O JBrowse link 4 171,250,766 171,461,571 RGD:7240710
RGD:8554872
nephrotic syndrome type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dgke diacylglycerol kinase epsilon JBrowse link 10 76,375,981 76,408,224 RGD:7240710
RGD:8554872
nephrotic syndrome type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgdia Rho GDP dissociation inhibitor alpha JBrowse link 10 109,754,012 109,757,506 RGD:7240710
RGD:8554872
nephrotic syndrome type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq8b coenzyme Q8B JBrowse link 1 84,043,487 84,067,066 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      nephrotic syndrome 113
        familial nephrotic syndrome 40
          Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 2
          Nephrotic Syndrome Type 21 2
          nephrotic syndrome type 1 9
          nephrotic syndrome type 10 1
          nephrotic syndrome type 11 1
          nephrotic syndrome type 12 1
          nephrotic syndrome type 13 1
          nephrotic syndrome type 14 1
          nephrotic syndrome type 15 1
          nephrotic syndrome type 16 1
          nephrotic syndrome type 17 2
          nephrotic syndrome type 18 1
          nephrotic syndrome type 19 1
          nephrotic syndrome type 2 17
          nephrotic syndrome type 20 1
          nephrotic syndrome type 3 2
          nephrotic syndrome type 4 1
          nephrotic syndrome type 5 1
          nephrotic syndrome type 6 1
          nephrotic syndrome type 7 1
          nephrotic syndrome type 8 1
          nephrotic syndrome type 9 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Urogenital Diseases 4031
        urinary system disease 2022
          kidney disease 1808
            proteinuria 492
              nephrosis 233
                nephrotic syndrome 113
                  familial nephrotic syndrome 40
                    Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 2
                    Nephrotic Syndrome Type 21 2
                    nephrotic syndrome type 1 9
                    nephrotic syndrome type 10 1
                    nephrotic syndrome type 11 1
                    nephrotic syndrome type 12 1
                    nephrotic syndrome type 13 1
                    nephrotic syndrome type 14 1
                    nephrotic syndrome type 15 1
                    nephrotic syndrome type 16 1
                    nephrotic syndrome type 17 2
                    nephrotic syndrome type 18 1
                    nephrotic syndrome type 19 1
                    nephrotic syndrome type 2 17
                    nephrotic syndrome type 20 1
                    nephrotic syndrome type 3 2
                    nephrotic syndrome type 4 1
                    nephrotic syndrome type 5 1
                    nephrotic syndrome type 6 1
                    nephrotic syndrome type 7 1
                    nephrotic syndrome type 8 1
                    nephrotic syndrome type 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.