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: lysinuric protein intolerance pathway
Accession: PW:0001871
browse the term
Definition: A disorder resulting from an impaired transport pathway of positively charged amino acids.
Synonyms: exact_synonym: LPI pathway; dibasic amino aciduria II pathway; hyperdibasic aminoaciduria pathway; lysinuric protein intolerance disease pathway
related_synonym: SMP:00197; SMP:00585
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AQP1
aquaporin 1 (Colton blood group)
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
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AQP2
aquaporin 2
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878
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AQP3
aquaporin 3 (Gill blood group)
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596
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ATP1A1
ATPase Na+/K+ transporting subunit alpha 1
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
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ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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ATP1A4
ATPase Na+/K+ transporting subunit alpha 4
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
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ATP1B1
ATPase Na+/K+ transporting subunit beta 1
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
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ATP1B2
ATPase Na+/K+ transporting subunit beta 2
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
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ATP1B3
ATPase Na+/K+ transporting subunit beta 3
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 3:141,876,643...141,926,549
Ensembl chr 3:141,876,124...141,926,549
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ATP1B4
ATPase Na+/K+ transporting family member beta 4
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr X:120,362,089...120,383,237
Ensembl chr X:120,362,085...120,383,249
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CLCNKA
chloride voltage-gated channel Ka
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
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FXYD2
FXYD domain containing ion transport regulator 2
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698
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NR3C2
nuclear receptor subfamily 3 group C member 2
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698
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SCNN1A
sodium channel epithelial 1 subunit alpha
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
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SCNN1B
sodium channel epithelial 1 subunit beta
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
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SCNN1D
sodium channel epithelial 1 subunit delta
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029
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SCNN1G
sodium channel epithelial 1 subunit gamma
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
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SLC12A1
solute carrier family 12 member 1
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
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SLC12A3
solute carrier family 12 member 3
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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SLC12A6
solute carrier family 12 member 6
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
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SLC14A2
solute carrier family 14 member 2
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr18:45,167,963...45,683,688
Ensembl chr18:45,212,995...45,683,688
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SLC1A1
solute carrier family 1 member 1
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 9:4,490,468...4,587,469
Ensembl chr 9:4,490,468...4,587,469
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SLC22A2
solute carrier family 22 member 2
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
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SLC22A6
solute carrier family 22 member 6
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr11:62,976,597...62,984,967
Ensembl chr11:62,936,385...62,984,967
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SLC38A4
solute carrier family 38 member 4
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr12:46,764,761...46,832,431
Ensembl chr12:46,764,761...46,832,408
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SLC3A1
solute carrier family 3 member 1
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494
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SLC3A2
solute carrier family 3 member 2
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr11:62,856,109...62,888,860
Ensembl chr11:62,856,004...62,888,880
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SLC6A20
solute carrier family 6 member 20
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr 3:45,755,449...45,796,536
Ensembl chr 3:45,755,449...45,796,574
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SLC7A5
solute carrier family 7 member 5
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,023...87,869,507
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SLC7A6
solute carrier family 7 member 6
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr16:68,264,526...68,301,819
Ensembl chr16:68,264,516...68,301,823
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SLC7A7
solute carrier family 7 member 7
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
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SLC7A8
solute carrier family 7 member 8
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr14:23,125,295...23,183,660
Ensembl chr14:23,125,295...23,183,674
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SLC7A9
solute carrier family 7 member 9
EXP
SMPDB
SMP:00197 SMP:00585
NCBI chr19:32,830,511...32,869,767
Ensembl chr19:32,830,509...32,869,767
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