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Pathways
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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).
Term:inborn error of renal tubular transport pathway
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Accession:PW:0002213 term browser browse the term
Definition:Conditions resulting from genetic defects in the selective or non-selective transport pathways of kidney tubules.
Synonyms:exact_synonym: inborn error of renal tubular transport disease pathway


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cystinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO SMPDB SMP:00723 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp2 aquaporin 2 ISO SMPDB SMP:00723 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO SMPDB SMP:00723 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO SMPDB SMP:00723 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO SMPDB SMP:00723 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO SMPDB SMP:00723 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO SMPDB SMP:00723 NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO SMPDB SMP:00723 NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO SMPDB SMP:00723 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 ISO SMPDB SMP:00723 NCBI chr 8:96,910,265...96,941,592
Ensembl chr 8:96,910,309...96,941,598 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO SMPDB SMP:00723 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO SMPDB SMP:00723 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO SMPDB SMP:00723 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO SMPDB SMP:00723 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO SMPDB SMP:00723 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO SMPDB SMP:00723 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO SMPDB SMP:00723 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO SMPDB SMP:00723 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO SMPDB SMP:00723 NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO SMPDB SMP:00723 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO SMPDB SMP:00723 NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO SMPDB SMP:00723 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO SMPDB SMP:00723 NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268 		JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO SMPDB SMP:00723 NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173 		JBrowse link
G Slc38a4 solute carrier family 38, member 4 ISO SMPDB SMP:00723 NCBI chr 7:128,142,866...128,203,000
Ensembl chr 7:128,144,807...128,202,995 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO SMPDB SMP:00723 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO SMPDB SMP:00723 NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931 		JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO SMPDB SMP:00723 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO SMPDB SMP:00723 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO SMPDB SMP:00723 NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO SMPDB SMP:00723 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO SMPDB SMP:00723 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO SMPDB SMP:00723 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641 		JBrowse link
Fanconi syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00572 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00572 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00572 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00572 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00572 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00572 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00572 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00572 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00572 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530 		JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00572 NCBI chr 1:232,324,718...232,395,445
Ensembl chr 1:232,328,430...232,396,829 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO SMPDB SMP:00572 NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00572 NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00572 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pklr pyruvate kinase L/R ISO SMPDB SMP:00572 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00572 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00572 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      urogenital disease pathway 131
        urologic disease pathway 131
          kidney disease pathway 94
            inborn error of renal tubular transport pathway 49
              Fanconi syndrome pathway 16
              cystinuria pathway 33
paths to the root