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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: OMIM: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 chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108
JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
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 chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
JBrowse link
G Bcl2l2 Bcl2-like 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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 chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180
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 chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274
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 chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612
JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340
JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
JBrowse link
G Cideb cell death-inducing DFFA-like effector b ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605
JBrowse link
G Cma1 chymase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
JBrowse link
G Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287
JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044
JBrowse link
G Ctsg cathepsin G ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353
JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669
JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838
JBrowse link
G Dhrs2 dehydrogenase/reductase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644
JBrowse link
G Dhrs4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127
JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098
JBrowse link
G Fitm1 fat storage-inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015
JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
JBrowse link
G Gzmb granzyme B ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
JBrowse link
G Gzmf granzyme F ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649
JBrowse link
G Haus4 HAUS augmin-like complex, subunit 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938
JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745
JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285
JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573
JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505
JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,263,199...29,265,716 JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316
JBrowse link
G Mdp1 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905
JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,425,570...28,425,652 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
JBrowse link
G Nfatc4 nuclear factor of activated T-cells 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654
JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
JBrowse link
G Oxa1l OXA1L, mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:18716612 NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
JBrowse link
G Ppp1r3e protein phosphatase 1, regulatory subunit 3E ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,084,736...28,085,655 JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440
JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
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 chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560
JBrowse link
G Slc22a17 solute carrier family 22, member 17 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799
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 chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349
JBrowse link
G Tssk4 testis-specific serine kinase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          amino acid metabolic disorder 1524
            lysinuric protein intolerance 74
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            amino acid metabolic disorder 1524
              lysinuric protein intolerance 74
paths to the root