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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:lysinuric protein intolerance
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Accession:DOID:0060439 term browser browse the term
Definition:An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. (DO)
Synonyms:exact_synonym: Dibasic Amino Aciduria II;   Hyperdibasic Aminoaciduria;   LPI;   LPI - Lysinuric Protein Intolerance;   SLC7A7-RELATED CONDITION
 primary_id: MESH:C562687;   RDO:0012291
 alt_id: MIM:222700
 xref: GARD:3335;   NCI:C121563;   ORDO:470


show annotations for term's descendants           Sort by:
lysinuric protein intolerance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,072,121...32,117,004
Ensembl chr15:32,072,123...32,117,166 		JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,236,201...33,252,070
Ensembl chr15:33,236,208...33,252,026 		JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:31,989,796...32,000,042
Ensembl chr15:31,989,799...32,000,042 		JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,541,528...32,549,392
Ensembl chr15:32,541,528...32,549,280 		JBrowse link
G Bcl2l2 Bcl2-like 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,326,686...32,337,834
Ensembl chr15:32,326,020...32,335,379 		JBrowse link
G C15h14orf119 similar to human chromosome 14 open reading frame 119 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,116,220...32,121,425
Ensembl chr15:32,116,021...32,122,416 		JBrowse link
G C15h14orf93 similar to human chromosome 14 open reading frame 93 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,007,591...32,034,337
Ensembl chr15:32,007,595...32,034,289 		JBrowse link
G Carmil3 capping protein regulator and myosin 1 linker 3 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,948,228...32,965,829
Ensembl chr15:32,948,856...32,965,811 		JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,331,919...33,334,428
Ensembl chr15:33,331,919...33,334,428 		JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,061,588...32,071,323
Ensembl chr15:32,061,588...32,071,283 		JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,139,716...32,141,476
Ensembl chr15:32,139,716...32,141,476 		JBrowse link
G Cideb cell death-inducing DFFA-like effector b ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,222,135...33,226,407
Ensembl chr15:33,221,824...33,226,688 		JBrowse link
G Cma1 chymase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,387,351...33,390,133
Ensembl chr15:33,387,351...33,390,133 		JBrowse link
G Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,382,171...32,385,288
Ensembl chr15:32,382,608...32,385,271 		JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,968,047...32,975,008
Ensembl chr15:32,968,046...32,975,007 		JBrowse link
G Ctsg cathepsin G ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,901,230...33,907,596
Ensembl chr15:33,901,754...33,907,596 		JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,015,370...33,027,407
Ensembl chr15:33,016,762...33,027,672 		JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,206,449...33,213,776
Ensembl chr15:33,206,451...33,213,734 		JBrowse link
G Dhrs2 dehydrogenase/reductase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,658,855...32,673,591
Ensembl chr15:32,659,223...32,673,588 		JBrowse link
G Dhrs4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,924,482...32,948,103
Ensembl chr15:32,936,522...32,948,101 		JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,362,401...32,374,490
Ensembl chr15:32,361,843...32,371,743 		JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,041,840...33,046,056
Ensembl chr15:33,041,842...33,046,102 		JBrowse link
G Fitm1 fat storage-inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,034,705...33,035,974
Ensembl chr15:33,034,688...33,035,974 		JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,135,455...33,144,923
Ensembl chr15:33,135,682...33,144,899 		JBrowse link
G Gzmb granzyme B ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:34,459,007...34,462,469
Ensembl chr15:34,459,007...34,462,469 		JBrowse link
G Gzmf granzyme F ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,975,543...33,997,505
Ensembl chr15:33,977,505...33,997,572 		JBrowse link
G Haus4 HAUS augmin-like complex, subunit 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:31,964,555...31,976,853
Ensembl chr15:31,964,556...31,975,941 		JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,292,897...32,309,564
Ensembl chr15:32,291,048...32,321,319 		JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,378,750...32,382,141
Ensembl chr15:32,378,750...32,382,141 		JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,087,321...33,097,241
Ensembl chr15:33,087,321...33,097,241 		JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,065,422...33,071,881
Ensembl chr15:33,065,659...33,071,879 		JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,549,536...32,558,859
Ensembl chr15:32,549,555...32,558,859 		JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,335,290...33,349,553
Ensembl chr15:33,335,274...33,349,552 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:31,891,358...31,897,530
Ensembl chr15:31,891,362...31,897,528 		JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,233,120...33,235,636
Ensembl chr15:33,232,820...33,235,637 		JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,228,634...33,230,453
Ensembl chr15:33,228,634...33,230,453 		JBrowse link
G Mdp1 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,118,944...33,121,817
Ensembl chr15:33,118,944...33,121,817 		JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,395,552...32,395,634 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,421,615...32,421,726 JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:31,857,824...31,867,049
Ensembl chr15:31,857,546...31,869,893 		JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:31,852,927...31,856,160
Ensembl chr15:31,852,760...31,856,162 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,123,505...33,135,522
Ensembl chr15:33,123,505...33,135,522 		JBrowse link
G Nfatc4 nuclear factor of activated T-cells 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,256,912...33,284,522
Ensembl chr15:33,274,153...33,285,582 		JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,459,898...32,467,260
Ensembl chr15:32,399,109...32,467,260 		JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,213,786...33,222,147
Ensembl chr15:33,213,789...33,222,147 		JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,977,023...32,981,442
Ensembl chr15:32,977,035...32,981,442 		JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,302,778...33,325,120
Ensembl chr15:33,295,954...33,324,383 		JBrowse link
G Oxa1l OXA1L, mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:18716612 NCBI chr15:31,783,725...31,791,353
Ensembl chr15:31,776,063...31,792,354 		JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,337,955...32,342,700
Ensembl chr15:32,338,089...32,342,691 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,997,853...33,006,691
Ensembl chr15:32,997,834...33,016,864 		JBrowse link
G Ppp1r3e protein phosphatase 1, regulatory subunit 3E ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,318,435...32,319,595 JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:31,938,927...31,948,318
Ensembl chr15:31,938,719...31,948,426 		JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,054,747...32,055,666
Ensembl chr15:32,049,118...32,056,299 		JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,042,784...32,047,379
Ensembl chr15:32,042,787...32,047,379 		JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,038,962...33,041,849
Ensembl chr15:33,038,597...33,041,848 		JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,048,452...33,053,055
Ensembl chr15:33,048,457...33,053,102 		JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,176,268...33,183,320
Ensembl chr15:33,176,099...33,183,271 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,079,818...33,087,283
Ensembl chr15:33,079,801...33,087,282 		JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:31,903,972...31,908,451
Ensembl chr15:31,903,965...31,908,445 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025 		JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,244,620...32,292,358
Ensembl chr15:32,244,558...32,292,021 		JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,053,450...33,065,285
Ensembl chr15:33,053,607...33,065,284 		JBrowse link
G Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,348,057...33,350,892
Ensembl chr15:33,348,059...33,354,600 		JBrowse link
G Slc22a17 solute carrier family 22, member 17 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,352,273...32,358,780
Ensembl chr15:32,349,944...32,358,785 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO
ISS 		DNA:deletion
CTD Direct Evidence: marker/mechanism
OMIM:222700
ClinVar Annotator: match by term: Lysinuric protein intolerance | ClinVar Annotator: match by term: SLC7A7-related condition 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:9829974 PMID:10080182 PMID:10080183 PMID:10631139 More... RGD:1624296 NCBI chr15:31,792,122...31,852,732
Ensembl chr15:31,792,125...31,835,683 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,153,016...32,212,715
Ensembl chr15:32,153,018...32,212,715 		JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,160,985...33,175,632
Ensembl chr15:33,160,987...33,174,463 		JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,536,297...32,541,537
Ensembl chr15:32,537,497...32,541,535 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,140,611...33,146,930
Ensembl chr15:33,140,714...33,146,930 		JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,097,541...33,108,106
Ensembl chr15:33,097,552...33,105,290 		JBrowse link
G Tssk4 testis-specific serine kinase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:33,108,248...33,114,083
Ensembl chr15:33,111,734...33,114,083 		JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:32,501,755...32,541,720
Ensembl chr15:32,503,115...32,535,085 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    Nutritional and Metabolic Diseases 8558
      disease of metabolism 8558
        inherited metabolic disorder 6644
          amino acid metabolic disorder 1596
            lysinuric protein intolerance 74
Path 2
Term Annotations click to browse term
  disease 19154
    Developmental Disease 14697
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13758
        genetic disease 13375
          inherited metabolic disorder 6644
            amino acid metabolic disorder 1596
              lysinuric protein intolerance 74
paths to the root