OTC (ornithine transcarbamylase)

Gene

• Entrez ID: 5009
• Gene name: Ornithine transcarbamylase
• Gene symbol: OTC
• Synonyms (NCBI Gene): OCTD, OTC1, OTCD, OTCase
• 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:0001889	Process	Liver development	IEA
GO:0004585	Function	Ornithine carbamoyltransferase activity	IBA
GO:0004585	Function	Ornithine carbamoyltransferase activity	IDA	2556444, 8112735
GO:0004585	Function	Ornithine carbamoyltransferase activity	IEA
GO:0005543	Function	Phospholipid binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	3472484, 6372096
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	6372096
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006526	Process	L-arginine biosynthetic process	IEA
GO:0006591	Process	Ornithine metabolic process	IEA
GO:0006593	Process	L-ornithine catabolic process	IDA	2556444, 8112735
GO:0007494	Process	Midgut development	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0016597	Function	Amino acid binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016743	Function	Carboxyl- or carbamoyltransferase activity	IEA
GO:0019240	Process	Citrulline biosynthetic process	IBA
GO:0019240	Process	Citrulline biosynthetic process	IDA	2556444, 8112735
GO:0019240	Process	Citrulline biosynthetic process	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0042301	Function	Phosphate ion binding	IEA
GO:0042450	Process	L-arginine biosynthetic process via ornithine	IBA
GO:0042802	Function	Identical protein binding	IEA
GO:0055081	Process	Monoatomic 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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal circulating ornithine concentration	Pathogenic	rs1555975756	RCV000626698	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperammonemia	Pathogenic	rs1555975756	RCV000626698	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Likely inborn error of metabolism	Pathogenic	rs72558416	RCV005865235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs72554330, rs66737144, rs72554359, rs66656800, rs281865554	RCV005887682 RCV005887683 RCV005887684 RCV005887685 RCV005887686 RCV005925399	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ornithine carbamoyltransferase deficiency	Likely pathogenic; Pathogenic	rs72558436, rs72558484, rs72558493, rs74518351, rs72554310, rs72554313, rs67939655, rs72554314, rs66521141, rs66677059, rs72554322, rs72554326, rs66693137, rs72554327, rs72554329, rs67418243, rs66550389, rs72552297, rs68058881, rs72552295, rs72554355, rs66737144, rs72552296, rs72556255, rs72556257, rs72556259, rs72556260, rs68026851, rs67016166, rs72556264, rs72556271, rs66626662, rs72556274, rs66867430, rs72556277, rs72556278, rs72556284, rs72556288, rs72556287, rs72556293, rs72556294, rs67284661, rs67294955, rs66642398, rs72556301, rs72558406, rs72558407, rs72558408, rs72558411, rs72558415, rs72558416, rs72558417, rs68170503, rs72558427, rs72552300, rs72558429, rs66500027, rs72558432, rs66851495, rs72558434, rs67077695, rs72558444, rs72558449, rs72558450, rs72558452, rs66724222, rs72558462, rs67468335, rs67501347, rs72558470, rs67414444, rs72558473, rs72558474, rs72558478, rs2068502349, rs2068592611, rs2068486155, rs2068487136, rs67120076, rs145777402, rs2147346607, rs1400669703, rs72558463, rs2147345229, rs2068501940, rs72556254, rs2147342791, rs2147345212, rs2147341364, rs281865554, rs2147342649, rs2147345110, rs2147341500, rs2147330536, rs68031618, rs72554323, rs2519979325, rs2519952395, rs2519952402, rs2068302365, rs2068530106, rs2519941939, rs281865552, rs72558418, rs2519959270, rs2519979419, rs2519978937, rs72558467, rs863225061, rs2519975452, rs66539573, rs72558492, rs72554312, rs878853245, rs2519979361, rs67960011, rs1800324, rs72558423, rs72556267, rs72558431, rs66556380, rs72558454, rs72554338, rs67486158, rs72554331, rs72554345, rs72558465, rs66469337, rs66656800, rs66741318, rs72558412, rs72554307, rs72554308, rs2519979431, rs2068486828, rs2519950487, rs2519975441, rs72556263, rs72556295, rs2519986909, rs755503394, rs2147341370, rs1357402422, rs2519973556, rs2519979459, rs1602014500, rs1131691517, rs72558428, rs1131692152, rs1555972538, rs1555975756, rs749748052, rs1555971001, rs1555971000, rs1555970997, rs72558403, rs1569270890, rs1569281032, rs1569282905, rs1569281354, rs1602029522, rs72556272, rs2068545306, rs72558491, rs2068502738, rs2068502421, rs2068501410, rs2068485732, rs2068315546, rs2068302412, rs72552302, rs2068529566, rs2068375565, rs2068501144, rs72558437, rs2068545602, rs72558488, rs2068315570, rs2068592875, rs2068314699, rs2068530385, rs2068301622, rs2068302240, rs770910923, rs2068529327, rs2068529696, rs2068530290, rs72554332, rs2068501518	RCV001329969 RCV004595917 RCV005632228 RCV001064676 RCV001813756 RCV002283454 RCV002513861 RCV001260429 RCV000807816 RCV002514458 RCV000792966 RCV003453009 RCV001385349 RCV002513862 RCV000011752 RCV002514459 RCV001854456 RCV000990783 RCV002490733 RCV000560147 RCV001854457 RCV001251324 RCV005632229 RCV002513863 RCV000011751 RCV000990785 RCV003509490 RCV000587672 RCV000990786 RCV003323393 RCV002514460 RCV000793302 RCV001854458 RCV005632231 RCV001854459 RCV000813314 RCV000990789 RCV001262181 RCV003509491 RCV001385352 RCV001854460 RCV005887687 RCV001204241 RCV001232865 RCV004558299 RCV004783740 RCV001857404 RCV001795155 RCV003509492 RCV001265563 RCV000634843 RCV003225028 RCV001218092 RCV000634844 RCV000634848 RCV002513864 RCV001802797 RCV004558300 RCV001854461 RCV000011744 RCV001307378 RCV000990790 RCV005632232 RCV001206949 RCV002514461 RCV000702113 RCV001378078 RCV000692945 RCV001390293 RCV005632233 RCV001228473 RCV001854462 RCV003509493 RCV000590461 RCV000690668 RCV001854463 RCV000547443 RCV001039339 RCV001857406 RCV001337278 RCV001341663 RCV001375871 RCV001378099 RCV001379672 RCV001378599 RCV001385350 RCV001663393 RCV001948231 RCV002008441 RCV002045039 RCV001927563 RCV001866601 RCV001942062 RCV001951259 RCV002003082 RCV002030590 RCV001994992 RCV001916012 RCV001956543 RCV001986043 RCV002045240 RCV002038550 RCV002249117 RCV002309665 RCV002309708 RCV002308220 RCV002307193 RCV002307237 RCV002310253 RCV002308458 RCV002469986 RCV003041439 RCV002510348 RCV002736053 RCV002843494 RCV002861846 RCV002894285 RCV002881931 RCV000201257 RCV003021155 RCV003022883 RCV003014684 RCV003020379 RCV003040285 RCV000225005 RCV003228176 RCV000011734 RCV000011735 RCV000011736 RCV000011737 RCV000011738 RCV000011739 RCV000011740 RCV000011743 RCV000011745 RCV000011746 RCV000011747 RCV000011748 RCV000011749 RCV000011750 RCV000011753 RCV000011754 RCV000011755 RCV000011756 RCV000011757 RCV000011758 RCV000011759 RCV000011760 RCV000011761 RCV003317773 RCV003333373 RCV003333624 RCV003335858 RCV003335973 RCV003447661 RCV003471646 RCV003476582 RCV003455845 RCV003509053 RCV003621784 RCV003622969 RCV003831035 RCV003985958 RCV004018375 RCV004566520 RCV002527083 RCV003621541 RCV000495847 RCV001049435 RCV001857958 RCV000548908 RCV000627032 RCV000627033 RCV000627034 RCV000627037 RCV000634847 RCV000687328 RCV000692422 RCV001376924 RCV000761321 RCV000990784 RCV000990787 RCV001069139 RCV001042147 RCV001070203 RCV001063805 RCV001066217 RCV001089859 RCV001089860 RCV001089861 RCV001089862 RCV001089866 RCV001089867 RCV001089868 RCV001089869 RCV001089870 RCV001089871 RCV001089872 RCV001089873 RCV001089874 RCV001089875 RCV001089877 RCV001090186 RCV001170077 RCV001170078 RCV001170079 RCV001192544 RCV001201344 RCV001221148 RCV001203914 RCV001238450 RCV001227742 RCV001240472 RCV001244170 RCV001240580 RCV001240275 RCV001293623 RCV003333024 RCV001295432	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OTC-related disorder	Likely pathogenic; Pathogenic	rs72558443, rs72558406, rs72556295	RCV003398689 RCV003414315 RCV004731536	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Protein avoidance	Pathogenic	rs1555975756	RCV000626698	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic	rs66656800	RCV005887431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2147330536, rs281865552	RCV005925678 RCV005931968	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORNITHINE TRANSCARBAMYLASE POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29168171		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29168171		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	30226287		★☆☆☆☆ Found in Text Mining only
Argininosuccinic Aciduria	Argininosuccinic aciduria	Pubtator	32410394	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25026867	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	28969007		★☆☆☆☆ Found in Text Mining only
Carbamoyl-Phosphate Synthase I Deficiency Disease	Carbamoyl Phosphate Synthase Deficiency	BEFREE	29948653		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18715028, 24010702, 33856599	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	2342523	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29168171		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	1895315		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28283349		★☆☆☆☆ Found in Text Mining only
Citrullinemia	Citrullinemia	Pubtator	36361642	Associate	★☆☆☆☆ Found in Text Mining only
Citrullinemia	Citrullinemia	BEFREE	9973542		★☆☆☆☆ Found in Text Mining only
Classical galactosemia	Galactosemia	BEFREE	25902754		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	8778603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30108309		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24010702	Associate	★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	28686778		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	1511981		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1B	Congenital disorder of glycosylation	BEFREE	25902754		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	2852474		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30226287		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30226287		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30226287		★☆☆☆☆ Found in Text Mining only
Duchenne and Becker Muscular Dystrophy	Duchenne And Becker Muscular Dystrophy	BEFREE	18487280		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	18524659	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	20031247, 25026867, 9854602		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	8778603		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29981428		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28283349		★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	BEFREE	25902754		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	3104674		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	2852474		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	18524659, 1895315	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	17098461		★☆☆☆☆ Found in Text Mining only
Hereditary orotic aciduria, type 1	Hereditary orotic aciduria	BEFREE	18440262, 8860834, 8938172		★☆☆☆☆ Found in Text Mining only
HMG CoA lyase deficiency	HMG CoA Lyase Deficiency	BEFREE	21918856		★☆☆☆☆ Found in Text Mining only
Hyperammonemia	Hyperammonemia	Pubtator	23551631, 26446336, 37593415	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypersensitivity Delayed	Hypersensitivity	Pubtator	29581464	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19574962		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	2852474		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	19138872, 2347583, 2983225		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17210712, 31186714		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17570354		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28283349, 28824294		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	34786702	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	24074287, 7155674		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	25902754, 28283349		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30226287		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	2570030		★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple syrup urine disease	Pubtator	36361642	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	11180228		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	27997078, 35087131	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmia, syndromic 2	Syndromic microphthalmia	BEFREE	25620158		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	37593415	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	9344874		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	37593415	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	3859837	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	2852474, 2877936, 2882882, 2984924, 3475976, 3600793, 3839070, 3859837, 6494904, 8357005		★☆☆☆☆ Found in Text Mining only
Myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	15894121		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	1357178		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1399139, 17210712, 29776373, 31186714		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	25902754		★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	BEFREE	1740347, 2574143		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	1357178		★☆☆☆☆ Found in Text Mining only
Ocular albinism, type II	Ocular albinism	BEFREE	8357005		★☆☆☆☆ Found in Text Mining only
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	CLINVAR_DG	10070627, 10946359, 11102556, 11117428, 11260212, 11388595, 11768581, 11793468, 12083811, 12536032, 16786505, 17041896, 1721894, 17334707, 18204299, 18440262, 19669271, 19893582, 21070677, 21956151, 23209112, 23769969, 23821427, 2474822, 25026867, 25433810, 25994866, 27070778, 28266016, 7860066, 7951259, 8365726, 8530002, 8566955, 8786061, 8807340, 8829665, 8863155, 9048915, 9175746, 9266388, 9286441, 9427144, 9610619		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	UNIPROT_DG	10070627, 10502831, 10737985, 11793483, 1480464, 1671317, 1721894, 2347583, 2474822, 2556444, 3170748, 7474905, 7951259, 8019569, 8081373, 8081398, 8099056, 8112735, 8530002, 8807340, 8830175, 8956038, 8956045, 9065786, 9143919, 9266388, 9286441, 9452024, 9452049, 9452065		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	BEFREE	10448647, 10502831, 10737985, 11216899, 11779420, 11793483, 12083811, 12402347, 1480464, 15243986, 1671317, 17041896, 17091258, 17186414, 17613537, 18440262, 19138872, 19359120, 19475717, 20127982, 2035531, 2037279, 20817516, 21386824, 2208768, 22241703, 2246687, 24010702, 25011434, 25026867, 2575934, 25994866, 26446336, 2741942, 28107167, 28283349, 2899508, 29282796, 29433939, 3004207, 3014867, 30175132, 3017613, 30333473, 30541480, 3091923, 3170748, 4067786, 6494904, 6510024, 6820412, 7474892, 8364586, 8609240, 8860834, 9056557, 9286441, 9427144, 980551		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	CTD_human_DG	16677864, 19669271, 8778603		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	CLINGEN_DG	16677864, 17041896, 2035531, 24309898, 26059767, 7702100, 7707692		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	LHGDN	19138872		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	GENOMICS_ENGLAND_DG	27604308, 2983225, 7860064		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ornithine transcarbamylase deficiency	Ornithine Transcarbamylase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	11148526		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31349501		★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	BEFREE	31683032		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	29094226		★☆☆☆☆ Found in Text Mining only
Properdin deficiency disease	Properdin Deficiency	BEFREE	2570030		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22546217	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11581184, 8357005		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	18524659, 2300556, 2902787	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa 2	Retinitis pigmentosa	Pubtator	1357178, 1895315, 8776599	Associate	★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 3	Retinitis Pigmentosa	BEFREE	8817343		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	31817281		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	30155941		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29981428		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12788037		★☆☆☆☆ Found in Text Mining only
Tyrosinemia, Type I	Tyrosinemia	BEFREE	25902754		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	36217298	Associate	★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	2906042, 3472214		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	2852474		★☆☆☆☆ Found in Text Mining only
X-Linked Csnb	Congenital stationary night blindness, X-Linked	BEFREE	1740347		★☆☆☆☆ Found in Text Mining only
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	12470351		★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	1685699, 2568332, 3422211, 3477957, 8776599		★☆☆☆☆ Found in Text Mining only