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	lysinuric protein intolerance

Disease ID	515
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	ORPHANET:470
OMIM	OMIM:222700
DOID	DOID:0060439
UMLS	C0268647
SNOMED-CT	SNOMEDCT_US_2016_09_01:303852004
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 9056 \| SLC7A7 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:40) 302 \| ANXA2 \| 1.186 \| DISEASES 317 \| APAF1 \| 1.249 \| DISEASES 353 \| APRT \| 2.076 \| DISEASES 1471 \| CST3 \| 1.331 \| DISEASES 5476 \| CTSA \| 2.411 \| DISEASES 1806 \| DPYD \| 1.305 \| DISEASES 2224 \| FDPS \| 1.593 \| DISEASES 2395 \| FXN \| 1.054 \| DISEASES 8359 \| HIST1H4A \| 1.436 \| DISEASES 8366 \| HIST1H4B \| 1.436 \| DISEASES 8364 \| HIST1H4C \| 1.436 \| DISEASES 8360 \| HIST1H4D \| 1.434 \| DISEASES 8367 \| HIST1H4E \| 1.436 \| DISEASES 8361 \| HIST1H4F \| 1.436 \| DISEASES 8294 \| HIST1H4I \| 1.436 \| DISEASES 8363 \| HIST1H4J \| 1.436 \| DISEASES 8362 \| HIST1H4K \| 1.436 \| DISEASES 8368 \| HIST1H4L \| 1.436 \| DISEASES 8370 \| HIST2H4A \| 1.436 \| DISEASES 554313 \| HIST2H4B \| 1.436 \| DISEASES 121504 \| HIST4H4 \| 1.436 \| DISEASES 3664 \| IRF6 \| 1.175 \| DISEASES 3665 \| IRF7 \| 1.633 \| DISEASES 3712 \| IVD \| 1.38 \| DISEASES 1130 \| LYST \| 2.269 \| DISEASES 4625 \| MYH7 \| 2.997 \| DISEASES 4942 \| OAT \| 1.303 \| DISEASES 5096 \| PCCB \| 2.404 \| DISEASES 9159 \| PCSK7 \| 2.286 \| DISEASES 5873 \| RAB27A \| 1.964 \| DISEASES 6906 \| SERPINA7 \| 1.487 \| DISEASES 6441 \| SFTPD \| 1.468 \| DISEASES 10165 \| SLC25A13 \| 2.787 \| DISEASES 10166 \| SLC25A15 \| 2.415 \| DISEASES 6520 \| SLC3A2 \| 5.957 \| DISEASES 348932 \| SLC6A18 \| 4.989 \| DISEASES 6541 \| SLC7A1 \| 2.849 \| DISEASES 23428 \| SLC7A8 \| 4.177 \| DISEASES 8676 \| STX11 \| 2.449 \| DISEASES 51733 \| UPB1 \| 3.119 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) SLC7A7 \| 14q11.2

Disease ID	515
Disease	lysinuric protein intolerance
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0001395 \| Hepatic fibrosis \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0008356 \| Combined hyperlipidaemia \| 1 HP:0003077 \| Hyperlipidemia \| 1 HP:0002757 \| Multiple fractures \| 1

Disease ID	515
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) C2712907 \| combined hyperlipidemia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total 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.)

Disease ID	515
Disease	lysinuric protein intolerance
Case	(Waiting for update.)