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
Accession: DOID:0060439
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Lysinuric protein intolerance
ClinVar
PMID:28492532
NCBI chr15:29,263,199...29,265,716
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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
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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
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Mir208a
microRNA 208a
ISO
ClinVar Annotator: match by term: Lysinuric protein intolerance
ClinVar
PMID:28492532
NCBI chr15:28,425,570...28,425,652
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:10655553 PMID:10737982 PMID:10980538 PMID:11377971 PMID:11544277 PMID:11883940 PMID:12402335 PMID:15756301 PMID:15776427 PMID:16199547 PMID:17530437 PMID:17576681 PMID:17666782 PMID:17764084 PMID:18716612 PMID:18846669 PMID:20301535 PMID:21110863 PMID:21716135 PMID:22325938 PMID:23430825 PMID:23542076 PMID:23772603 PMID:23940088 PMID:25326635 PMID:25419514 PMID:25614305 PMID:25640679 PMID:25741868 PMID:26740551 PMID:26865117 PMID:28028301 PMID:28492532 PMID:28976792 PMID:29058386 PMID:29795570 PMID:30054302 PMID:30832686 PMID:31014432 PMID:31211457 PMID:31427715 PMID:32249831 PMID:32542393 PMID:32888943 PMID:34095032 PMID:34589056 PMID:10080182 More...
RGD:1624296
NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
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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
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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
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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
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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
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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
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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
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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
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