Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Hartnup disease pathway
go back to main search page
Accession:PW:0001977 term browser browse the term
Definition:An autosomal recessive disorder caused by alterations in the transport of neutral amino acids in the intestine and proximal renal tubules. The condition is associated with psychosis and mental retardation.
Synonyms:related_synonym: SMP:00189


show annotations for term's descendants       view all columns           Sort by:
 
Hartnup disease pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP1 aquaporin 1 (Colton blood group) JBrowse link 7 31,644,331 31,658,141 RGD:9068941
G AQP2 aquaporin 2 JBrowse link 12 39,690,289 39,698,397 RGD:9068941
G AQP3 aquaporin 3 (Gill blood group) JBrowse link 9 34,032,983 34,039,438 RGD:9068941
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 1 121,212,161 121,232,876 RGD:9068941
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 1 139,390,549 139,418,311 RGD:9068941
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 19 47,357,926 47,383,736 RGD:9068941
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 JBrowse link 1 148,314,700 148,343,205 RGD:9068941
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 JBrowse link 17 7,669,997 7,675,730 RGD:9068941
G ATP1B3 ATPase Na+/K+ transporting subunit beta 3 JBrowse link 3 146,500,493 146,550,164 RGD:9068941
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 JBrowse link X 119,820,695 119,841,598 RGD:9068941
G CLCNKA chloride voltage-gated channel Ka JBrowse link 1 16,152,022 16,163,777 RGD:9068941
G LOC100968910 sodium/potassium-transporting ATPase subunit alpha-4 JBrowse link 1 139,426,556 139,462,393 RGD:9068941
G NR3C2 nuclear receptor subfamily 3 group C member 2 JBrowse link 4 152,072,962 152,435,965 RGD:9068941
G SCNN1A sodium channel epithelial 1 alpha subunit JBrowse link 12 6,392,354 6,423,118 RGD:9068941
G SCNN1B sodium channel epithelial 1 beta subunit JBrowse link 16 23,555,391 23,634,873 RGD:9068941
G SCNN1D sodium channel epithelial 1 delta subunit JBrowse link 1 1,239,074 1,248,062 RGD:9068941
G SCNN1G sodium channel epithelial 1 gamma subunit JBrowse link 16 23,435,793 23,469,969 RGD:9068941
G SLC12A1 solute carrier family 12 member 1 JBrowse link 15 45,479,583 45,577,084 RGD:9068941
G SLC12A3 solute carrier family 12 member 3 JBrowse link 16 56,276,026 56,326,973 RGD:9068941
G SLC12A6 solute carrier family 12 member 6 JBrowse link 15 31,575,336 31,681,016 RGD:9068941
G SLC14A2 solute carrier family 14 member 2 JBrowse link 18 42,034,675 42,506,485 RGD:9068941
G SLC1A1 solute carrier family 1 member 1 JBrowse link 9 4,511,491 4,608,337 RGD:9068941
G SLC22A2 solute carrier family 22 member 2 JBrowse link 6 163,066,654 163,158,469 RGD:9068941
G SLC22A6 solute carrier family 22 member 6 JBrowse link 11 61,680,016 61,688,223 RGD:9068941
G SLC38A4 solute carrier family 38 member 4 JBrowse link 12 42,770,576 42,838,283 RGD:9068941
G SLC3A1 solute carrier family 3 member 1 JBrowse link 2A 45,307,885 45,356,055 RGD:9068941
G SLC3A2 solute carrier family 3 member 2 JBrowse link 11 61,565,664 61,594,579 RGD:9068941
G SLC6A20 solute carrier family 6 member 20 JBrowse link 3 46,770,067 46,811,158 RGD:9068941
G SLC7A5 solute carrier family 7 member 5 JBrowse link 16 87,827,058 87,854,154 RGD:9068941
G SLC7A6 solute carrier family 7 member 6 JBrowse link 16 68,037,206 68,072,502 RGD:9068941
G SLC7A7 solute carrier family 7 member 7 JBrowse link 14 21,690,145 21,739,127 RGD:9068941
G SLC7A8 solute carrier family 7 member 8 JBrowse link 14 22,041,386 22,100,111 RGD:9068941
G SLC7A9 solute carrier family 7 member 9 JBrowse link 19 38,499,106 38,538,750 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 5624
    disease pathway 1902
      urogenital disease pathway 129
        urologic disease pathway 129
          kidney disease pathway 92
            Hartnup disease pathway 33
Path 2
Term Annotations click to browse term
  pathway 5624
    disease pathway 1902
      nutritional and metabolic disease pathway 649
        metabolic disease pathway 611
          inborn error of metabolism pathway 512
            inborn error of brain metabolic pathway 314
              Hartnup disease pathway 33
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.