ONTOLOGY REPORT - ANNOTATIONS


Term:nephronophthisis
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Accession:DOID:12712 term browser browse the term
Definition:An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (DO)
Synonyms:exact_synonym: medullary cystic disease;   medullary cystic kidney
 primary_id: RDO:9000443
 xref: GARD:206;   OMIM:PS256100;   ORDO:655
For additional species annotation, visit the Alliance of Genome Resources.


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nephronophthisis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:13592920
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cntrl centriolin JBrowse link 3 14,299,441 14,371,681 RGD:13592920
G Fam186b family with sequence similarity 186, member B JBrowse link 7 140,935,645 140,951,071 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G Glis2 GLIS family zinc finger 2 JBrowse link 10 11,154,459 11,177,063 RGD:8554872
G Incenp inner centromere protein JBrowse link 1 225,923,448 225,953,384 RGD:8554872
G Invs inversin JBrowse link 5 64,031,131 64,180,830 RGD:8554872
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:11537341
RGD:8554872
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 5 169,570,327 169,658,875 RGD:8554872
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
RGD:11065524
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
RGD:11065524
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:8554872
RGD:11065524
G Pias1 protein inhibitor of activated STAT, 1 JBrowse link 8 67,771,720 67,869,015 RGD:8554872
G Rbm48 RNA binding motif protein 48 JBrowse link 4 27,698,319 27,708,572 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
RGD:11073359
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Wwtr1 WW domain containing transcription regulator 1 JBrowse link 2 147,577,149 147,693,033 RGD:13592920
nephronophthisis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Mall mal, T-cell differentiation protein-like JBrowse link 3 120,272,583 120,307,090 RGD:8554872
G Mtln mitoregulin JBrowse link 3 120,372,665 120,373,523 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
RGD:11537341
RGD:7246904
RGD:7246902
RGD:7246900
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
nephronophthisis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535942
RGD:11535941
nephronophthisis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
nephronophthisis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
RGD:11553845
RGD:11552603
nephronophthisis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp423 zinc finger protein 423 JBrowse link 19 20,147,201 20,405,999 RGD:7240710
RGD:8554872
nephronophthisis 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep164 centrosomal protein 164 JBrowse link 8 50,069,282 50,132,477 RGD:7240710
RGD:8554872
nephronophthisis 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 JBrowse link 5 62,642,974 62,684,387 RGD:7240710
RGD:8554872
nephronophthisis 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep83 centrosomal protein 83 JBrowse link 7 35,739,553 35,847,618 RGD:7240710
RGD:8554872
nephronophthisis 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc2 doublecortin domain containing 2 JBrowse link 17 41,838,201 42,031,265 RGD:7240710
RGD:8554872
nephronophthisis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erp44 endoplasmic reticulum protein 44 JBrowse link 5 63,937,866 64,030,827 RGD:8554872
G Invs inversin JBrowse link 5 64,031,131 64,180,830 RGD:7240710
RGD:8554872
nephronophthisis 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapkbp1 mitogen activated protein kinase binding protein 1 JBrowse link 3 111,767,126 111,817,103 RGD:8554872
RGD:7240710
nephronophthisis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata3 GATA binding protein 3 JBrowse link 17 72,419,752 72,452,043 RGD:8554872
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:8554872
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
RGD:11071511
G Pmm2 phosphomannomutase 2 JBrowse link 10 7,056,258 7,077,443 RGD:8554872
nephronophthisis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:7240710
RGD:8554872
RGD:11537355
RGD:11537342
RGD:11537341
nephronophthisis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glis2 GLIS family zinc finger 2 JBrowse link 10 11,154,459 11,177,063 RGD:7240710
RGD:8554872
nephronophthisis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:7240710
RGD:8554872
nephronophthisis-like nephropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chadl chondroadherin-like JBrowse link 7 122,915,847 122,929,127 RGD:8554872
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:8554872
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 JBrowse link 7 122,896,860 122,918,025 RGD:8554872
G Rangap1 RAN GTPase activating protein 1 JBrowse link 7 122,939,266 122,967,178 RGD:8554872
G Rbx1 ring-box 1 JBrowse link 7 122,700,849 122,710,907 RGD:8554872
G Xpnpep3 X-prolyl aminopeptidase 3 JBrowse link 7 122,636,252 122,686,983 RGD:7240710
RGD:8554872
G Zc3h7b zinc finger CCCH-type containing 7B JBrowse link 7 122,978,999 123,027,166 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Urogenital Diseases 3777
        urinary system disease 2009
          kidney disease 1805
            cystic kidney disease 174
              nephronophthisis 40
                nephronophthisis 1 7
                nephronophthisis 11 1
                nephronophthisis 12 1
                nephronophthisis 13 1
                nephronophthisis 14 1
                nephronophthisis 15 1
                nephronophthisis 16 1
                nephronophthisis 18 1
                nephronophthisis 19 1
                nephronophthisis 2 2
                nephronophthisis 20 1
                nephronophthisis 3 4
                nephronophthisis 4 1
                nephronophthisis 7 1
                nephronophthisis 9 1
                nephronophthisis-like nephropathy 1 7
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                nephronophthisis 40
                  nephronophthisis 1 7
                  nephronophthisis 11 1
                  nephronophthisis 12 1
                  nephronophthisis 13 1
                  nephronophthisis 14 1
                  nephronophthisis 15 1
                  nephronophthisis 16 1
                  nephronophthisis 18 1
                  nephronophthisis 19 1
                  nephronophthisis 2 2
                  nephronophthisis 20 1
                  nephronophthisis 3 4
                  nephronophthisis 4 1
                  nephronophthisis 7 1
                  nephronophthisis 9 1
                  nephronophthisis-like nephropathy 1 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.