OTC (ornithine transcarbamylase)

Gene

• Entrez ID: 5009
• Gene name: Ornithine transcarbamylase
• Gene symbol: OTC
• Synonyms (NCBI Gene): OCTD, OTC1, OTCD, OTCase
• Disease Acronyms (UniProt): OCTD, OTCD
• Chromosome: X
• Chromosome location: Xp11.4
• Summary: This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800324	T>C	Pathogenic	Coding sequence variant, missense variant
rs1800328	A>C,G	Pathogenic, benign, benign-likely-benign	Coding sequence variant, missense variant
rs66469337	T>C,G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs66500027	G>A,T	Pathogenic	Splice donor variant
rs66512766	G>A,T	Pathogenic	Splice donor variant
rs66521141	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs66539573	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs66550389	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs66556380	A>C,G,T	Pathogenic	Splice acceptor variant
rs66564822	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs66626662	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs66642398	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs66656800	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs66677059	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs66693137	G>A,T	Pathogenic	Splice donor variant
rs66724222	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs66737144	G>A,T	Pathogenic	Splice donor variant
rs66741318	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs66851495	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs66867430	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs67016166	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs67077695	G>A,T	Pathogenic	Splice donor variant
rs67120076	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs67156896	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs67283833	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs67284661	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs67294955	G>A	Pathogenic	Coding sequence variant, missense variant
rs67294956	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs67330615	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs67333670	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs67367843	T>A,C	Pathogenic	Splice donor variant
rs67414444	T>A,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs67418243	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs67468335	T>C,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs67486158	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs67501347	C>A,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs67651903	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs67752076	A>G,T	Pathogenic	Initiator codon variant, missense variant
rs67839036	G>A	Pathogenic	Splice acceptor variant
rs67839039	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs67870244	C>G,T	Pathogenic	Missense variant, downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs67870245	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs67890094	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs67916658	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs67939655	A>C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs67954347	T>A,C,G	Pathogenic	Coding sequence variant, missense variant
rs67960011	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs67993095	A>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs68026851	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs68031618	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs68033093	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs68058881	G>A,T	Pathogenic	Splice donor variant
rs68170503	G>A,T	Pathogenic	Splice donor variant
rs72552295	T>C	Pathogenic	Initiator codon variant, missense variant
rs72552296	G>A	Pathogenic	Initiator codon variant, missense variant
rs72552297	ACAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs72552298	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs72552299	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs72552300	C>T	Pathogenic	Coding sequence variant, stop gained
rs72552301	A>C	Pathogenic	Intron variant
rs72552302	G>A	Pathogenic	Intron variant
rs72554303	C>G,T	Pathogenic	Intron variant
rs72554304	C>T	Pathogenic	Coding sequence variant, stop gained
rs72554305	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs72554306	G>T	Pathogenic	Coding sequence variant, missense variant
rs72554307	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72554308	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554309	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs72554310	C>T	Pathogenic	Coding sequence variant, missense variant
rs72554311	C>G	Pathogenic	Coding sequence variant, missense variant
rs72554312	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554313	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs72554314	->G	Pathogenic	Coding sequence variant, frameshift variant
rs72554315	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554316	A>C	Pathogenic	Coding sequence variant, missense variant
rs72554317	A>G	Pathogenic	Coding sequence variant, missense variant
rs72554318	A>T	Pathogenic	Coding sequence variant, missense variant
rs72554319	T>G	Pathogenic	Coding sequence variant, missense variant
rs72554320	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72554321	T>A	Pathogenic	Coding sequence variant, missense variant
rs72554322	G>A	Pathogenic	Coding sequence variant, stop gained
rs72554323	C>T	Pathogenic	Coding sequence variant, missense variant
rs72554324	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554325	T>G	Pathogenic	Coding sequence variant, missense variant
rs72554326	C>T	Pathogenic	Coding sequence variant, stop gained
rs72554327	G>A	Pathogenic	Splice acceptor variant
rs72554328	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554329	G>T	Pathogenic	Coding sequence variant, missense variant
rs72554330	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs72554331	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554332	A>G	Pathogenic	Coding sequence variant, missense variant
rs72554333	G>T	Pathogenic	Coding sequence variant, missense variant
rs72554334	CTT>-	Pathogenic	Coding sequence variant, inframe deletion
rs72554335	T>G	Pathogenic	Coding sequence variant, stop gained
rs72554336	G>C	Pathogenic	Coding sequence variant, missense variant
rs72554337	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554338	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554339	A>T	Pathogenic	Coding sequence variant, missense variant
rs72554340	A>G	Pathogenic	Coding sequence variant, missense variant
rs72554341	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554342	T>C,G	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs72554343	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs72554344	A>G	Pathogenic	Coding sequence variant, missense variant
rs72554345	G>C	Pathogenic	Coding sequence variant, missense variant
rs72554346	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554347	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72554349	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs72554350	C>A	Pathogenic	Coding sequence variant, missense variant
rs72554351	G>T	Pathogenic	Coding sequence variant, missense variant
rs72554352	G>A	Pathogenic	Coding sequence variant, missense variant
rs72554353	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs72554354	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs72554355	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs72554357	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs72554358	A>G	Pathogenic	Coding sequence variant, missense variant
rs72554359	T>C	Pathogenic	Splice donor variant
rs72556251	->ATT	Pathogenic	Coding sequence variant, inframe insertion
rs72556252	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556253	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556254	C>T	Pathogenic	Coding sequence variant, missense variant
rs72556255	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs72556256	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs72556257	A>T	Pathogenic	Coding sequence variant, missense variant
rs72556258	G>A	Pathogenic	Coding sequence variant, missense variant
rs72556259	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556260	G>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72556261	T>A,G	Pathogenic	Coding sequence variant, missense variant
rs72556262	A>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs72556263	C>G	Pathogenic	Coding sequence variant, stop gained
rs72556264	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs72556265	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72556266	C>T	Pathogenic	Coding sequence variant, missense variant
rs72556267	G>T	Pathogenic	Coding sequence variant, stop gained
rs72556268	C>A	Pathogenic	Coding sequence variant, missense variant
rs72556269	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556270	A>G	Pathogenic	Coding sequence variant, missense variant
rs72556271	A>G	Pathogenic	Coding sequence variant, missense variant
rs72556272	G>A	Pathogenic	Coding sequence variant, missense variant
rs72556273	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556274	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs72556275	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72556276	T>A	Pathogenic	Coding sequence variant, missense variant
rs72556277	C>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72556278	C>T	Pathogenic	Coding sequence variant, missense variant
rs72556279	A>T	Pathogenic	Coding sequence variant, missense variant
rs72556280	C>G	Pathogenic	Coding sequence variant, missense variant
rs72556281	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72556282	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556283	A>G	Pathogenic	Coding sequence variant, missense variant
rs72556284	C>T	Pathogenic	Coding sequence variant, missense variant
rs72556285	ACGCTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs72556286	T>C	Pathogenic	Coding sequence variant, missense variant
rs72556287	G>C	Pathogenic	Coding sequence variant, missense variant
rs72556288	G>A,C,T	Pathogenic	Splice donor variant
rs72556289	A>G	Pathogenic	Splice acceptor variant
rs72556290	A>G	Pathogenic	Coding sequence variant, missense variant
rs72556291	A>T	Pathogenic	Coding sequence variant, missense variant
rs72556292	T>G	Pathogenic	Coding sequence variant, missense variant
rs72556293	A>G	Pathogenic	Coding sequence variant, missense variant
rs72556294	G>C	Pathogenic	Coding sequence variant, missense variant
rs72556295	G>T	Pathogenic	Coding sequence variant, missense variant
rs72556296	C>T	Pathogenic	Coding sequence variant, missense variant
rs72556298	C>G	Pathogenic	Coding sequence variant, missense variant
rs72556299	G>A	Pathogenic	Coding sequence variant, stop gained
rs72556300	A>T	Pathogenic	Coding sequence variant, missense variant
rs72556301	G>A	Pathogenic	Coding sequence variant, missense variant
rs72556302	G>A	Pathogenic	Coding sequence variant, missense variant
rs72558403	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72558404	C>A	Pathogenic	Coding sequence variant, missense variant
rs72558405	A>G	Pathogenic	Coding sequence variant, missense variant
rs72558406	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs72558407	T>C	Pathogenic	Coding sequence variant, missense variant
rs72558408	C>T	Pathogenic	Coding sequence variant, missense variant
rs72558409	A>C	Pathogenic	Coding sequence variant, missense variant
rs72558410	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72558411	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72558412	T>G	Pathogenic	Coding sequence variant, missense variant
rs72558413	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs72558414	G>A	Pathogenic	Coding sequence variant, missense variant
rs72558415	C>A,T	Likely-benign, pathogenic, benign	Coding sequence variant, synonymous variant, missense variant
rs72558416	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs72558417	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72558418	A>C	Pathogenic	Coding sequence variant, missense variant
rs72558420	C>T	Pathogenic	Coding sequence variant, missense variant
rs72558421	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs72558422	->T	Pathogenic	Coding sequence variant, frameshift variant
rs72558423	C>G	Pathogenic	Coding sequence variant, missense variant
rs72558424	C>A	Pathogenic	Coding sequence variant, missense variant
rs72558425	C>G	Pathogenic	Coding sequence variant, missense variant
rs72558426	C>T	Pathogenic	Coding sequence variant, missense variant
rs72558427	T>C	Pathogenic	Splice donor variant
rs72558428	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs72558429	C>T	Pathogenic	Coding sequence variant, missense variant
rs72558430	G>T	Pathogenic	Coding sequence variant, stop gained
rs72558431	T>C	Pathogenic	Splice donor variant
rs72558432	A>G	Pathogenic	Intron variant
rs72558433	A>G	Pathogenic	Splice acceptor variant
rs72558434	AGAATGGTACCAAGCT>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs72558435	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72558436	T>A	Pathogenic	Coding sequence variant, missense variant
rs72558437	C>A	Pathogenic	Coding sequence variant, missense variant
rs72558438	TGTTGCTGA>-	Pathogenic	Coding sequence variant, inframe indel
rs72558439	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs72558440	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs72558441	T>C	Pathogenic	Coding sequence variant, missense variant
rs72558442	G>A	Pathogenic	Coding sequence variant, missense variant
rs72558443	A>G	Pathogenic	Coding sequence variant, missense variant
rs72558444	A>G	Pathogenic	Coding sequence variant, missense variant
rs72558445	T>C	Pathogenic	Coding sequence variant, missense variant
rs72558446	G>T	Pathogenic	Coding sequence variant, missense variant
rs72558447	G>A	Pathogenic	Coding sequence variant, stop gained
rs72558448	A>C	Pathogenic	Coding sequence variant, missense variant
rs72558449	T>C	Pathogenic	Coding sequence variant, missense variant
rs72558450	G>A	Pathogenic	Coding sequence variant, missense variant
rs72558451	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs72558452	GAG>-	Pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs72558453	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs72558454	C>T	Pathogenic	Coding sequence variant, missense variant
rs72558455	C>T	Pathogenic	Coding sequence variant, stop gained
rs72558456	G>T	Pathogenic	Coding sequence variant, missense variant
rs72558457	A>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs72558458	T>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs72558459	ACTG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs72558460	TG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs72558461	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558462	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558463	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558464	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558465	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558466	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558467	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558468	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558469	AAG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion, downstream transcript variant
rs72558470	G>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558471	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558472	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558473	C>A,T	Pathogenic	Stop gained, downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs72558474	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558475	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558476	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558477	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558478	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558479	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558480	T>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs72558481	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558482	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs72558483	G>T	Pathogenic	Genic downstream transcript variant, splice donor variant, downstream transcript variant
rs72558484	T>C	Pathogenic	Genic downstream transcript variant, splice donor variant, downstream transcript variant
rs72558485	C>G	Pathogenic	Intron variant, genic downstream transcript variant
rs72558486	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558487	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558488	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558489	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558490	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558491	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558492	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558493	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558494	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs72558495	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72558496	AAGT>-	Pathogenic	Intron variant, splice donor variant
rs74518351	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111060773	GTAAG>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs111060774	CTTTACATGTAAAGCT>-	Pathogenic	Intron variant
rs281865552	G>A,C	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs281865553	G>A	Pathogenic	Downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs281865554	G>C	Pathogenic	Splice acceptor variant
rs749748052	C>A	Likely-pathogenic, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs772049322	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs796052012	G>C	Pathogenic	Missense variant, coding sequence variant
rs796052013	A>G	Pathogenic	Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs796052015	->A	Pathogenic	Splice acceptor variant
rs796052016	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225061	TTTTCGGTAAGTGATGGTCAGAGA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs878853245	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886041526	G>-	Pathogenic	Splice donor variant, coding sequence variant
rs1064796335	A>T	Likely-pathogenic	Stop lost, splice acceptor variant, terminator codon variant
rs1131691517	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692152	C>G	Pathogenic	Missense variant, coding sequence variant
rs1555970997	T>G	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1555971000	G>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1555971001	A>G	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1555971006	C>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1555971008	C>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1555972495	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555972538	T>G	Pathogenic	Splice donor variant
rs1555975685	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555975756	G>A	Pathogenic	Intron variant
rs1569270890	->T	Likely-pathogenic	Splice donor variant
rs1569281032	A>G	Likely-pathogenic	Intron variant
rs1569281354	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1602029522	G>A	Pathogenic	Splice acceptor variant
rs1602029533	->TTGTCTA	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1602033095	GCCA>CCT	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028822	hsa-miR-26b-5p	Microarray	19088304
MIRT1207199	hsa-miR-144	CLIP-seq
MIRT1207200	hsa-miR-323-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PPARGC1A	Activation	16891307

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IDA	2556444
GO:0000050	Process	Urea cycle	IEA
GO:0000050	Process	Urea cycle	TAS
GO:0001889	Process	Liver development	IEA
GO:0004585	Function	Ornithine carbamoyltransferase activity	IBA	21873635
GO:0004585	Function	Ornithine carbamoyltransferase activity	IDA	2556444, 8112735
GO:0005543	Function	Phospholipid binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	3472484, 6372096
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	6372096
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006593	Process	Ornithine catabolic process	IDA	2556444, 8112735
GO:0007494	Process	Midgut development	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0016597	Function	Amino acid binding	IEA
GO:0019240	Process	Citrulline biosynthetic process	IBA	21873635
GO:0019240	Process	Citrulline biosynthetic process	IDA	2556444, 8112735
GO:0032868	Process	Response to insulin	IEA
GO:0042301	Function	Phosphate ion binding	IEA
GO:0042450	Process	Arginine biosynthetic process via ornithine	IBA	21873635
GO:0042493	Process	Response to drug	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0055081	Process	Anion homeostasis	IEA
GO:0070781	Process	Response to biotin	IEA
GO:0097272	Process	Ammonium homeostasis	IMP	2556444, 2575934

Other IDs

• MIM: 300461
• HGNC: 8512
• e!Ensembl: ENSG00000036473

Protein

• UniProt ID: P00480
• Protein name: Ornithine transcarbamylase, mitochondrial (OTCase) (EC 2.1.3.3) (Ornithine carbamoyltransferase, mitochondrial)
• Protein function: Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline (PubMed:2556444, PubMed:6372096, PubMed:8112735). The urea cycle ensures the detoxification of ammonia by converting it to
• PDB: 1C9Y, 1EP9, 1FVO, 1OTH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02729	OTCace_N	40 → 181	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain	Domain
  PF00185	OTCace	187 → 341	Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in liver and intestinal mucosa.
• Sequence:

  MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLS
  ADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGV
  NESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQ
  EHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
  GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTF
  LHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF

• Sequence length: 354

Pathways

KEGG:

Arginine biosynthesis
Metabolic pathways
Biosynthesis of amino acids

Reactome:

Mitochondrial protein import
Urea cycle

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	8778603
Episodic ataxia	Episodic Ataxia	rs121908212, rs587776692, rs587776693, rs121908216, rs121908215, rs121908233, rs121908226, rs587776694, rs587776695, rs121908225, rs121909323, rs121909324, rs121908227, rs121909326, rs121908236, rs137852619, rs137852620, rs104894352, rs104894348, rs104894349, rs104894356, rs104894357, rs104894353, rs104894354, rs104894355, rs267607195, rs104894358, rs28933383, rs113994120, rs387906683, rs387906686, rs121908240, rs121908247, rs121908243, rs121908228, rs786200962, rs794727411, rs1553463427, rs796053166, rs121917753, rs1064794808, rs1555755977, rs1064794262, rs1064794263, rs1085308020, rs1553579488, rs746790849, rs1555762869, rs1555085761, rs1555085798, rs1555740805, rs1553578503, rs1555738369, rs1555751762, rs1315533129, rs1568473171, rs1568473233, rs1568493323, rs774224202, rs1568514371, rs1600272344, rs1600139781, rs1599294284, rs1600088360, rs374686479, rs1574571769, rs1600198481, rs1600242882, rs1568514116, rs1599292631, rs1600271575, rs1600180659, rs1702008435
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Ornithine carbamoyltransferase deficiency	Ornithine carbamoyltransferase deficiency	rs68026851, rs67960011, rs1800324, rs72558423, rs72556267, rs72554312, rs68031618, rs72558431, rs66556380, rs72558454, rs67120076, rs72554338, rs67486158, rs66626662, rs72554331, rs72554345, rs72558465, rs66469337, rs66656800, rs66741318, rs72558412, rs72554307, rs72554308, rs72554332, rs72558484, rs74518351, rs72554310, rs72554313, rs67939655, rs72554314, rs66521141, rs66677059, rs72554322, rs72554326, rs66693137, rs72554327, rs72554329, rs67418243, rs66550389, rs72552297, rs68058881, rs72552295, rs72554355, rs72552296, rs72556255, rs72556257, rs72556259, rs72556260, rs67016166, rs72556264, rs72556271, rs66867430, rs72556277, rs72556278, rs72556284, rs72556288, rs72556287, rs72556293, rs67284661, rs67294955, rs66642398, rs72556301, rs72558406, rs72558407, rs72558408, rs72558411, rs72558415, rs72558416, rs72558417, rs68170503, rs72558427, rs72552300, rs72558429, rs66500027, rs72558432, rs66851495, rs67077695, rs72558444, rs72558449, rs72558450, rs72558452, rs66724222, rs72558462, rs67468335, rs67501347, rs72558470, rs67414444, rs72558473, rs72558474, rs72558478, rs863225061, rs878853245, rs1131691517, rs72558428, rs1131692152, rs1555972538, rs1555975756, rs749748052, rs1555971001, rs1555971000, rs1555970997, rs72558403, rs1569270890, rs1569281032, rs1569282905, rs1569281354, rs1602029522, rs72556274, rs72556272, rs2068487136, rs2068501940, rs2068545306, rs72558491, rs2068502738, rs2068502421, rs2068501410, rs2068486155, rs2068485732, rs2068315546, rs2068302412, rs72552302, rs2068529566, rs2068375565, rs2068501144, rs72558437, rs2068545602, rs72558488, rs2068315570	7860064, 9286441, 11388595, 8081398, 2474822, 17334707, 10946359, 12083811, 8778603, 9610619, 11768581, 8829665, 11102556, 24309898, 8863155, 21070677, 10070627, 7702100, 16786505, 16677864, 10502831, 9175746, 19669271, 7474905, 9427144, 9266388, 8786061, 8081373, 27070778, 17041896, 8530002, 8956045, 23821427, 1721894, 28266016, 8807340, 1671317, 23769969, 11117428, 9452065, 27604308, 2347583, 7860066, 7951259, 19893582, 2035531, 8099056, 9065786, 9452049, 8830175, 18204299, 8566955, 11793468, 2556444, 25994866, 9048915, 8956038, 11793483, 7707692, 18440262, 25433810, 23209112, 11260212, 25026867, 1480464, 8019569, 2983225, 21956151, 10737985, 3170748, 9452024, 26059767, 12536032, 8365726, 9143919, 8112735

Associations from Text Mining
Disease Name	Relationship Type	References
Arginine Glycine Amidinotransferase Deficiency	Associate	29776373
Argininosuccinic Aciduria	Associate	32410394
Brain Diseases	Associate	25026867
Carcinoma Hepatocellular	Associate	18715028, 24010702, 33856599
Central Nervous System Diseases	Associate	2342523
Citrullinemia	Associate	36361642
Colorectal Neoplasms	Associate	24010702
Death	Associate	3004207, 39256843
Dyspnea	Associate	29581464
Edema	Associate	18524659
Ependymoma	Associate	35782058
Granulomatous Disease Chronic	Associate	18524659, 1895315
Hyperammonemia	Associate	23551631, 26446336, 37593415
Hypersensitivity Delayed	Associate	29581464
Liver Diseases	Associate	34786702
Lymphoma Non Hodgkin	Associate	35782058
Maple Syrup Urine Disease	Associate	36361642
Metabolic Diseases	Associate	27997078, 35087131
Metabolism Inborn Errors	Associate	2556444, 2564432, 29282796
Migraine Disorders	Associate	37593415
Mood Disorders	Associate	37593415
Muscular Dystrophy Duchenne	Associate	3859837
Neoplasms	Associate	29776373, 35782058
Neuroacanthocytosis Mcleod Type	Associate	18524659
Neurologic Manifestations	Associate	18524659
Night Blindness	Associate	1357178
Ornithine Carbamoyltransferase Deficiency Disease	Associate	11080238, 1671317, 18204299, 19318352, 24010702, 25026867, 2556444, 26446336, 2741942, 3004207, 3014867, 30175132, 30333473, 30449781, 30541480, 31415401, 3170748, 32014801, 32410394, 32482918, 33272297, 33550136, 36217298, 37593415, 39256843, 40059726, 40102887, 9065786
Ornithine Carbamoyltransferase Deficiency Disease	Inhibit	18204299, 18524659, 2556444, 29282796, 37146589, 9065786
Prostatic Neoplasms	Associate	22546217
Retinitis Pigmentosa	Associate	18524659, 2300556, 2902787
Retinitis Pigmentosa 2	Associate	1357178, 1895315, 8776599
Urea Cycle Disorders Inborn	Associate	21068339, 29282796, 32410394, 36361642, 37146589
Vitamin D Deficiency	Associate	36217298