lysinuric protein intolerance |
Disease ID | 302 |
---|---|
Disease | lysinuric protein intolerance |
Definition | A disorder caused by the inability to digest and use lysine, arginine, and ornithine. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. y+L amino acid transporter 1, the product of the SLC7A7 gene, is involved in transporting lysine, arginine, and ornithine between cells in the body. |
Synonym | congenital lysinuria dibasic amino aciduria ii hyperdibasic aminoaciduria hyperdibasic aminoaciduria, nos lpi lpi - lysinuric protein intolerance lysinuric protein intolerance (disorder) lysinuric protein intolerance (disorder) [ambiguous] lysinuric protein intolerance [ambiguous] lysinuric protein intolerance [dup] lysinuric protein intolerance [dup] (disorder) lysinuric protein intolerance, nos |
Orphanet | |
OMIM | |
DOID | |
UMLS | C0268647 |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:68) 6542 | SLC7A2 | DISEASES 11136 | SLC7A9 | DISEASES 79931 | TNIP3 | DISEASES 201294 | UNC13D | DISEASES 9057 | SLC7A6 | DISEASES 6813 | STXBP2 | DISEASES 57709 | SLC7A14 | DISEASES 445 | ASS1 | DISEASES 6535 | SLC6A8 | DISEASES 50617 | ATP6V0A4 | DISEASES 6519 | SLC3A1 | DISEASES 8140 | SLC7A5 | DISEASES 2184 | FAH | DISEASES 3004 | GZMM | DISEASES 6523 | SLC5A1 | DISEASES 285362 | SUMF1 | DISEASES 1807 | DPYS | DISEASES 23657 | SLC7A11 | DISEASES 9056 | SLC7A7 | DISEASES 8365 | HIST1H4H | DISEASES 1437 | CSF2 | DISEASES 84889 | SLC7A3 | DISEASES 3251 | HPRT1 | DISEASES 3479 | IGF1 | DISEASES 340024 | SLC6A19 | DISEASES 435 | ASL | DISEASES 3661 | IRF3 | DISEASES 9610 | RIN1 | DISEASES 23428 | SLC7A8 | DISEASES 348932 | SLC6A18 | DISEASES 51733 | UPB1 | DISEASES 9159 | PCSK7 | DISEASES 6906 | SERPINA7 | DISEASES 3665 | IRF7 | DISEASES 5873 | RAB27A | DISEASES 10166 | SLC25A15 | DISEASES 8360 | HIST1H4D | DISEASES 302 | ANXA2 | DISEASES 8294 | HIST1H4I | DISEASES 8363 | HIST1H4J | DISEASES 4625 | MYH7 | DISEASES 8368 | HIST1H4L | DISEASES 2224 | FDPS | DISEASES 8362 | HIST1H4K | DISEASES 121504 | HIST4H4 | DISEASES 8359 | HIST1H4A | DISEASES 8367 | HIST1H4E | DISEASES 3664 | IRF6 | DISEASES 8676 | STX11 | DISEASES 4942 | OAT | DISEASES 554313 | HIST2H4B | DISEASES 8370 | HIST2H4A | DISEASES 1806 | DPYD | DISEASES 6441 | SFTPD | DISEASES 5476 | CTSA | DISEASES 1471 | CST3 | DISEASES 2395 | FXN | DISEASES 8366 | HIST1H4B | DISEASES 8361 | HIST1H4F | DISEASES 8364 | HIST1H4C | DISEASES 6520 | SLC3A2 | DISEASES 353 | APRT | DISEASES 6541 | SLC7A1 | DISEASES 1130 | LYST | DISEASES 10165 | SLC25A13 | DISEASES 3712 | IVD | DISEASES 5096 | PCCB | DISEASES 317 | APAF1 | DISEASES |
Locus | Symbol | Locus(Total Locus:1) SLC7A7 | 14q11.2 |
Disease ID | 302 |
---|---|
Disease | lysinuric protein intolerance |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) |
Disease ID | 302 |
---|---|
Disease | lysinuric protein intolerance |
Manually Symptom | UMLS | Name(Total Manually Symptoms:10) C2712907 | combined hyperlipidemia C2678504 | osteoporosis C2183399 | stupor C1142132 | carnitine deficiency C0865850 | acute respiratory insufficiency C0271561 | growth hormone deficiency C0268128 | orotic aciduria C0206062 | interstitial lung disease C0024141 | systemic lupus erythematosus C0017658 | glomerulonephritis |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
---|
(Waiting for update.) |
All Snps(Total Genotypes:44) | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs121908676 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22813398 | T | G |
rs121908677 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22813238 | C | A |
rs121908678 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22774371 | G | T,A |
rs121908679 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22778837 | C | T |
rs146582474 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22775938 | T | A,C |
rs386833792 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22813385 | G | A |
rs386833793 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22813241 | G | A |
rs386833794 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22775531 | AAAG | - |
rs386833795 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22775526 | C | T |
rs386833796 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22813292 | TCC | - |
rs386833797 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22775446 | T | A |
rs386833798 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22774447 | - | TAGTT |
rs386833799 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22774441 | G | T |
rs386833800 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22774411 | AGAA | - |
rs386833801 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22774100 | G | - |
rs386833802 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22774089 | A | G |
rs386833803 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22774018 | G | - |
rs386833804 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22773991 | G | T,C |
rs386833805 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22773977 | - | TGAT |
rs386833806 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22773975 | C | - |
rs386833807 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22773960 | G | A |
rs386833808 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22773945 | G | A |
rs386833809 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22773686 | C | - |
rs386833810 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22773681 | A | G |
rs386833811 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22813250 | A | T |
rs386833812 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22813181 | AGAG | - |
rs386833813 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22813144 | AA | - |
rs386833814 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22813028 | A | G |
rs386833815 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22812981 | C | G |
rs386833816 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22812945 | A | G |
rs386833817 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22812899 | C | T |
rs386833818 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22780005 | - | A |
rs386833819 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22779988 | G | A |
rs386833820 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22779980 | T | C |
rs386833821 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22779929 | G | A |
rs386833822 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22779925 | C | T,G |
rs386833823 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22778850 | G | C,A |
rs386833824 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22778810 | C | A |
rs386833825 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22776307 | A | G |
rs386833826 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22776268 | - | A |
rs386833827 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22776194 | C | A |
rs386833828 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22775832 | C | A |
rs386833829 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22775833 | C | A |
rs72552272 | NA | 9056 | SLC7A7 | umls:C0268647 | CLINVAR | NA | 0.48 | NA | SLC7A7 | 14 | 22775538 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
---|
(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
---|
(Waiting for update.) |
Chemical(Total Drugs:0) | |
---|---|
(Waiting for update.) |
FDA approved drug and dosage information(Total Drugs:0) | |
---|---|
(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
---|---|
(Waiting for update.) |