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ONTOLOGY REPORT - ANNOTATIONS


Term:lysinuric protein intolerance pathway
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Accession:PW:0001871 term browser 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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lysinuric protein intolerance pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp1 aquaporin 1 (Colton blood group) JBrowse link 4 85,551,503 85,563,683 RGD:10402751
G Aqp2 aquaporin 2 JBrowse link 7 141,237,802 141,242,837 RGD:10402751
G Aqp3 aquaporin 3 (Gill blood group) JBrowse link 5 57,423,735 57,429,252 RGD:10402751
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:10402751
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:10402751
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:10402751
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 JBrowse link 13 90,605,792 90,642,032 RGD:10402751
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 JBrowse link 13 82,737,161 82,757,681 RGD:10402751
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 JBrowse link 10 56,205,622 56,211,879 RGD:10402751
G Atp1b3 ATPase Na+/K+ transporting subunit beta 3 JBrowse link 8 104,190,032 104,221,342 RGD:10402751
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 JBrowse link X 124,631,544 124,652,520 RGD:10402751
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:10402751
G Fxyd2 FXYD domain-containing ion transport regulator 2 JBrowse link 8 49,710,334 49,717,492 RGD:10402751
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 JBrowse link 19 34,408,275 34,761,003 RGD:10402751
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:10402751
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:10402751
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:10402751
G Slc12a1 solute carrier family 12 member 1 JBrowse link 3 117,421,531 117,498,372 RGD:10402751
G Slc12a3 solute carrier family 12 member 3 JBrowse link 19 11,106,033 11,144,674 RGD:10402751
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:10402751
G Slc14a2 solute carrier family 14 member 2 JBrowse link 18 74,508,070 74,941,389 RGD:10402751
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:10402751
G Slc22a2 solute carrier family 22 member 2 JBrowse link 1 48,318,025 48,360,219 RGD:10402751
G Slc22a6 solute carrier family 22 member 6 JBrowse link 1 224,824,809 224,833,284 RGD:10402751
G Slc38a4 solute carrier family 38, member 4 JBrowse link 7 138,459,576 138,512,952 RGD:10402751
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:10402751
G Slc3a2 solute carrier family 3 member 2 JBrowse link 1 224,906,566 224,921,029 RGD:10402751
G Slc6a20 solute carrier family 6 member 20 JBrowse link 8 132,713,013 132,753,145 RGD:10402751
G Slc7a5 solute carrier family 7 member 5 JBrowse link 19 54,693,959 54,722,563 RGD:10402751
G Slc7a6 solute carrier family 7 member 6 JBrowse link 19 38,152,225 38,179,149 RGD:10402751
G Slc7a7 solute carrier family 7 member 7 JBrowse link 15 33,013,346 33,059,733 RGD:10402751
G Slc7a8 solute carrier family 7 member 8 JBrowse link 15 33,369,245 33,428,942 RGD:10402751
G Slc7a9 solute carrier family 7 member 9 JBrowse link 1 91,709,034 91,738,492 RGD:10402751

Term paths to the root
Path 1
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  pathway 6015
    disease pathway 1947
      congenital disease pathway 527
        inborn genetic disease pathway 527
          inborn error of metabolism pathway 527
            inborn error of amino acid metabolism pathway 229
              lysinuric protein intolerance pathway 33
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.