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ONTOLOGY REPORT - ANNOTATIONS


Term:renal tubular transport disease
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Accession:DOID:447 term browser browse the term
Definition:Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
Synonyms:exact_synonym: Kidney Tubular Transport, Inborn Error;   Kidney Tubular Transport, Inborn Errors;   Renal Tubular Transport Errors;   Renal Tubular Transport, Inborn Error;   Renal Tubular Transport, Inborn Errors;   inborn renal tubular transport disorder
 primary_id: MESH:D015499
 alt_id: RDO:0001805
For additional species annotation, visit the Alliance of Genome Resources.


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renal tubular transport disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auh AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 17 12,310,178 12,405,224 RGD:1599425
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:628538
G Cldn16 claudin 16 JBrowse link 11 77,683,942 77,703,232 RGD:1599615
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
RGD:11554173
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:1598933
RGD:8554872
RGD:10044239
RGD:7240710
autosomal dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul3 cullin 3 JBrowse link 9 86,044,485 86,129,066 RGD:8554872
G Klhl3 kelch-like family member 3 JBrowse link 17 6,924,423 7,029,374 RGD:8554872
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 JBrowse link 19 34,408,275 34,761,003 RGD:1600930
RGD:8554872
RGD:7240710
G Stx16 syntaxin 16 JBrowse link 3 172,154,739 172,183,699 RGD:8554872
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
RGD:13592920
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:8554872
RGD:13592920
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:7240710
RGD:8554872
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbr lymphotoxin beta receptor JBrowse link 4 157,822,838 157,829,291 RGD:8554872
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:8554872
RGD:7240710
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:8554872
RGD:7240710
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:8554872
RGD:7240710
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:8554872
Bartter disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:1600603
RGD:8554872
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:11554173
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 JBrowse link 8 33,490,280 33,519,127 RGD:11554173
RGD:8554872
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:11554173
G Slc12a1 solute carrier family 12 member 1 JBrowse link 3 117,421,531 117,498,372 RGD:1624188
RGD:8554872
RGD:11554173
Bartter disease type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc12a1 solute carrier family 12 member 1 JBrowse link 3 117,421,531 117,498,372 RGD:7240710
RGD:8554872
Bartter disease type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 JBrowse link 8 33,490,280 33,519,127 RGD:7240710
RGD:8554872
Bartter disease type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:8554872
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:7240710
RGD:8554872
Bartter disease type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:7240710
RGD:8554872
Bartter disease type 4b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:8554872
RGD:7240710
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:7240710
Bartter disease type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
RGD:7240710
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:8554872
cystinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep89 centrosomal protein 89 JBrowse link 1 91,663,723 91,705,979 RGD:8554872
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:8554872
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:1600015
RGD:8554872
RGD:7240710
G Slc7a9 solute carrier family 7 member 9 JBrowse link 1 91,709,034 91,738,492 RGD:737767
RGD:8554872
RGD:7240710
Dent disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:11554173
RGD:8554872
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:13592920
Dent Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:7240710
RGD:8554872
G Mir188 microRNA 188 JBrowse link X 16,110,270 16,110,349 RGD:8554872
G Mir500 microRNA 500 JBrowse link X 16,121,332 16,121,411 RGD:8554872
G Mir532 microRNA 532 JBrowse link X 16,109,870 16,109,948 RGD:8554872
Dent Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inpp5b inositol polyphosphate-5-phosphatase B JBrowse link 5 142,731,767 142,796,305 RGD:8554872
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:7240710
RGD:8554872
dicarboxylic aminoaciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:7240710
RGD:8554872
G Spata6l spermatogenesis associated 6-like JBrowse link 1 247,037,004 247,088,124 RGD:8554872
Distal Renal Tubular Acidosis with Hemolytic Anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:7240710
RGD:8554872
G Wdr72 WD repeat domain 72 JBrowse link 8 80,965,734 81,125,710 RGD:8554872
Distal Renal Tubular Acidosis with Progressive Nerve Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 JBrowse link 4 115,417,100 115,435,754 RGD:8554872
RGD:7240710
Distal Renal Tubular Acidosis, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 JBrowse link 4 65,736,585 65,821,916 RGD:7240710
RGD:8554872
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:13208934
G Tmem213 transmembrane protein 213 JBrowse link 4 65,800,410 65,823,205 RGD:8554872
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 JBrowse link 4 65,736,585 65,821,916 RGD:8554872
Donnai-Barrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:7240710
RGD:8554872
Familial Hypophosphatemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:1303356
Familial Hypophosphatemic Rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:11554173
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:11554173
RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8554872
Familial Renal Hypouricemia due to Tubular Hypersecretion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc22a12 solute carrier family 22 member 12 JBrowse link 1 221,910,787 221,919,277 RGD:8554872
G Slc2a9 solute carrier family 2 member 9 JBrowse link 14 77,067,537 77,192,702 RGD:8554872
Fanconi Renotubular Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase JBrowse link 11 82,945,104 82,978,364 RGD:8554872
Fanconi Renotubular Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7240710
RGD:8554872
Fanconi Renotubular Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase JBrowse link 11 82,945,104 82,978,364 RGD:7240710
RGD:8554872
Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnf4a hepatocyte nuclear factor 4, alpha JBrowse link 3 159,902,441 159,965,003 RGD:7240710
RGD:8554872
Fanconi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase JBrowse link 11 82,945,104 82,978,364 RGD:11554173
G Gpx3 glutathione peroxidase 3 JBrowse link 10 40,247,436 40,255,423 RGD:11554173
G Ldha lactate dehydrogenase A JBrowse link 1 102,900,288 102,909,713 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:13592920
G Slc2a2 solute carrier family 2 member 2 JBrowse link 2 114,413,427 114,445,418 RGD:7240710
RGD:8554872
RGD:11554173
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242923
RGD:11554173
Gitelman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:1300379
G Slc12a3 solute carrier family 12 member 3 JBrowse link 19 11,106,033 11,144,674 RGD:1580588
RGD:8554872
RGD:11554173
RGD:7240710
G Stk39 serine threonine kinase 39 JBrowse link 3 54,359,449 54,625,702 RGD:13592920
G Wnk4 WNK lysine deficient protein kinase 4 JBrowse link 10 89,181,139 89,198,213 RGD:13592920
GRACILE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
Hartnup disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a19 solute carrier family 6 member 19 JBrowse link 1 32,199,869 32,218,628 RGD:1600035
RGD:8554872
RGD:7240710
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242924
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242924
RGD:13592920
RGD:7242925
G Slc34a3 solute carrier family 34 member 3 JBrowse link 3 2,448,391 2,454,019 RGD:7240710
RGD:8554872
Hypomagnesemia, Seizures, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:8554872
Hypomagnesemia, Seizures, and Mental Retardation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:7240710
Hypomagnesemia, Seizures, and Mental Retardation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:8554872
RGD:7240710
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a3r1 SLC9A3 regulator 1 JBrowse link 10 103,713,045 103,730,145 RGD:7240710
RGD:8554872
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:7240710
RGD:8554872
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:6906930
RGD:8554872
RGD:7240710
RGD:6906931
hypotonia-cystinuria syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B JBrowse link 6 8,219,385 8,280,127 RGD:11554173
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:11554173
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:11554173
Iminoglycinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc36a2 solute carrier family 36 member 2 JBrowse link 10 40,497,184 40,525,033 RGD:7240710
RGD:8554872
G Slc6a19 solute carrier family 6 member 19 JBrowse link 1 32,199,869 32,218,628 RGD:7240710
G Slc6a20 solute carrier family 6 member 20 JBrowse link 8 132,713,013 132,753,145 RGD:7240710
RGD:11554173
Juvenile Cataract, with Microcornea and Glucosuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:7240710
RGD:8554872
Liddle syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:11554173
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:11554173
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:737753
RGD:11554173
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:737754
Liddle Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:7240710
RGD:8554872
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:8554872
Liddle Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:8554872
RGD:7240710
Liddle Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:8554872
RGD:7240710
oculocerebrorenal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actrt1 actin-related protein T1 JBrowse link X 133,227,699 133,229,052 RGD:8554872
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 JBrowse link X 131,340,045 131,344,038 RGD:8554872
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:7240710
RGD:8554872
RGD:11554173
G Prr32 proline rich 32 JBrowse link X 131,617,765 131,619,762 RGD:8554872
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 JBrowse link X 134,634,651 134,719,503 RGD:8554872
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a4 solute carrier family 4 member 4 JBrowse link 14 20,476,258 20,817,042 RGD:7240710
RGD:8554872
pseudohypoaldosteronism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul3 cullin 3 JBrowse link 9 86,044,485 86,129,066 RGD:8554872
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
G Klhl3 kelch-like family member 3 JBrowse link 17 6,924,423 7,029,374 RGD:8554872
RGD:11554173
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 JBrowse link 19 34,408,275 34,761,003 RGD:1600927
RGD:8554872
RGD:11554173
G Rad52 RAD52 homolog, DNA repair protein JBrowse link 4 152,429,826 152,451,875 RGD:8554872
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:1624117
RGD:11554173
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:1624117
RGD:11554173
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:1624147
RGD:11554173
G Stx16 syntaxin 16 JBrowse link 3 172,154,739 172,183,699 RGD:11554173
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:1580828
RGD:8554872
RGD:11554173
RGD:2298790
G Wnk4 WNK lysine deficient protein kinase 4 JBrowse link 10 89,181,139 89,198,213 RGD:2298790
RGD:8554872
RGD:11554173
RGD:1580828
Pseudohypoaldosteronism, Type IIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnk4 WNK lysine deficient protein kinase 4 JBrowse link 10 89,181,139 89,198,213 RGD:7240710
RGD:8554872
Pseudohypoaldosteronism, Type IIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:7240710
RGD:8554872
Pseudohypoaldosteronism, Type IID term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl3 kelch-like family member 3 JBrowse link 17 6,924,423 7,029,374 RGD:7240710
RGD:8554872
Pseudohypoaldosteronism, Type IIE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul3 cullin 3 JBrowse link 9 86,044,485 86,129,066 RGD:7240710
RGD:8554872
Renal Aminoacidurias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cltrn collectrin, amino acid transport regulator JBrowse link X 32,118,082 32,153,687 RGD:8554872
renal glycosuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1310127 similar to cDNA sequence BC017158 JBrowse link 1 199,687,775 199,716,205 RGD:8554872
G Slc5a2 solute carrier family 5 member 2 JBrowse link 1 199,682,688 199,688,809 RGD:1599049
RGD:8554872
RGD:737731
RGD:7240710
renal hypomagnesemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:8554872
G Fxyd2 FXYD domain-containing ion transport regulator 2 JBrowse link 8 49,710,334 49,717,492 RGD:1598986
RGD:8554872
RGD:7240710
renal hypomagnesemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:7240710
RGD:8554872
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:7240710
RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:8554872
renal hypomagnesemia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:7240710
RGD:8554872
Renal Hypouricemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc22a12 solute carrier family 22 member 12 JBrowse link 1 221,910,787 221,919,277 RGD:7240710
RGD:8554872
RGD:11554173
G Slc2a9 solute carrier family 2 member 9 JBrowse link 14 77,067,537 77,192,702 RGD:11554173
Renal Hypouricemia, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a9 solute carrier family 2 member 9 JBrowse link 14 77,067,537 77,192,702 RGD:7240710
RGD:8554872
renal tubular acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 JBrowse link 4 65,736,585 65,821,916 RGD:1599383
RGD:13592920
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 JBrowse link 4 115,417,100 115,435,754 RGD:1599372
G Ctsb cathepsin B JBrowse link 15 46,316,741 46,337,613 RGD:2315534
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:4891416
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:7240710
RGD:8554872
RGD:13208945
RGD:11554173
RGD:10450481
RGD:10450480
G Slc4a4 solute carrier family 4 member 4 JBrowse link 14 20,476,258 20,817,042 RGD:61794
RGD:11554173
Renal Tubular Acidosis, Distal, with Normal Red Cell Morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:8554872
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:8554872
Vitamin D Hydroxylation-Deficient Rickets, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:7240710
RGD:8554872
Vitamin D Hydroxylation-Deficient Rickets, Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 JBrowse link 1 184,060,521 184,106,604 RGD:7240710
RGD:8554872
Vitamin D-Dependent Rickets, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:7240710
RGD:8554872
RGD:13432060
RGD:13210792
RGD:13210780
RGD:13210778
RGD:8158074
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:7207229
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:11560488
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:7240710
RGD:8554872
RGD:7207229
RGD:11556248
RGD:11556247
RGD:11556246
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        inherited metabolic disorder 1864
          renal tubular transport disease 87
            Azotemia, Familial 0
            Bartter disease + 8
            Dent disease + 6
            Donnai-Barrow syndrome 2
            Familial Hypophosphatemia + 13
            Familial Renal Hypouricemia due to Tubular Hypersecretion 2
            Fanconi syndrome + 7
            Gitelman syndrome 4
            Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 0
            Hypomagnesemia, Seizures, and Mental Retardation + 2
            Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
            Iminoglycinuria 3
            Liddle syndrome + 4
            Renal Aminoacidurias + 11
            Renal Hypouricemia 2
            Renal Hypouricemia, 2 1
            hypophosphatemic nephrolithiasis/osteoporosis 2 1
            oculocerebrorenal syndrome + 7
            pseudohypoaldosteronism + 13
            renal glycosuria + 3
            renal hypomagnesemia 2 2
            renal hypomagnesemia 4 2
            renal hypomagnesemia 5 with ocular involvement 2
            renal hypomagnesemia 6 1
            renal tubular acidosis + 9
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Urogenital Diseases 3965
        urinary system disease 2039
          kidney disease 1826
            renal tubular transport disease 87
              Azotemia, Familial 0
              Bartter disease + 8
              Dent disease + 6
              Donnai-Barrow syndrome 2
              Familial Hypophosphatemia + 13
              Familial Renal Hypouricemia due to Tubular Hypersecretion 2
              Fanconi syndrome + 7
              Gitelman syndrome 4
              Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 0
              Hypomagnesemia, Seizures, and Mental Retardation + 2
              Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
              Iminoglycinuria 3
              Liddle syndrome + 4
              Renal Aminoacidurias + 11
              Renal Hypouricemia 2
              Renal Hypouricemia, 2 1
              hypophosphatemic nephrolithiasis/osteoporosis 2 1
              oculocerebrorenal syndrome + 7
              pseudohypoaldosteronism + 13
              renal glycosuria + 3
              renal hypomagnesemia 2 2
              renal hypomagnesemia 4 2
              renal hypomagnesemia 5 with ocular involvement 2
              renal hypomagnesemia 6 1
              renal tubular acidosis + 9
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.