CPS1 (carbamoyl-phosphate synthase 1)

Gene

• Entrez ID: 1373
• Gene name: Carbamoyl-phosphate synthase 1
• Gene symbol: CPS1
• Synonyms (NCBI Gene): CPSASE1, GATD6, PHN
• Chromosome: 2
• Chromosome location: 2q34
• Summary: The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded pr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940283	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant
rs41272669	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs114819130	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912592	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912593	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs121912594	A>C	Benign, risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs121912595	G>A,C,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912596	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs138392504	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs138779023	T>C	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs141373204	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs192759073	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs200214298	G>A,T	Pathogenic, likely-benign	Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs201716417	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs202107577	C>A,T	Likely-benign, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs369061090	T>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs727502824	GTG>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs755530984	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs755882799	G>A,T	Likely-pathogenic	Splice acceptor variant
rs756021170	G>A,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained
rs757205958	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs758724746	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs759201450	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs761225695	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs764384490	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs766584384	A>G	Likely-pathogenic	Splice acceptor variant
rs767575696	T>C	Likely-pathogenic	Splice donor variant
rs767694281	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs772497399	G>A,C,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs778346264	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs778766382	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs778958318	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs781088670	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs961015305	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1015051007	C>A,G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064794258	G>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs1275489342	G>A,C	Likely-pathogenic	Intron variant
rs1318756445	AT>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant, non coding transcript variant
rs1326644714	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1341782266	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1374322297	T>C	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs1375304341	CTACAATGGTCAG>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1392934477	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs1414143303	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553507155	G>T	Likely-pathogenic	Coding sequence variant, missense variant, initiator codon variant, genic upstream transcript variant, non coding transcript variant
rs1553507167	A>T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1553507183	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553509010	->AAGTGGTT	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1553509023	G>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553509303	A>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1553509924	GA>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1553510520	G>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553510944	G>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1553511326	G>A	Likely-pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1553511789	->T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553512225	->C	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553512642	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553513387	G>T	Likely-pathogenic	Splice acceptor variant
rs1553513429	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553513433	G>A	Likely-pathogenic	Splice donor variant
rs1553513864	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553516660	G>A	Likely-pathogenic	Splice donor variant
rs1553517122	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553517224	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553517670	->GG	Likely-pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant
rs1553518389	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553518395	T>A	Likely-pathogenic	Splice donor variant
rs1553518719	A>T	Likely-pathogenic	Splice acceptor variant
rs1553518720	G>C	Likely-pathogenic	Splice acceptor variant
rs1553518726	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559129372	G>C	Pathogenic	Splice donor variant
rs1574543988	T>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1574548003	T>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1574566578	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574567901	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574577755	T>C	Likely-pathogenic	Splice donor variant
rs1574632659	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574646079	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051022	hsa-miR-17-5p	CLASH	23622248
MIRT688725	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT688724	hsa-miR-548av-5p	HITS-CLIP	23313552
MIRT688723	hsa-miR-548k	HITS-CLIP	23313552
MIRT688722	hsa-miR-8054	HITS-CLIP	23313552
MIRT688721	hsa-miR-548l	HITS-CLIP	23313552
MIRT688720	hsa-miR-3609	HITS-CLIP	23313552
MIRT688719	hsa-miR-548ah-5p	HITS-CLIP	23313552
MIRT688718	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT688717	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT051022	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT688716	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT688715	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT688714	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT688713	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT688712	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT688711	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT205178	hsa-miR-3121-3p	HITS-CLIP	23313552
MIRT205179	hsa-miR-4255	HITS-CLIP	23313552
MIRT688710	hsa-miR-200a-5p	HITS-CLIP	23313552
MIRT688709	hsa-miR-200b-5p	HITS-CLIP	23313552
MIRT688708	hsa-miR-4778-5p	HITS-CLIP	23313552
MIRT688707	hsa-miR-4324	HITS-CLIP	23313552
MIRT688706	hsa-miR-544b	HITS-CLIP	23313552
MIRT688705	hsa-miR-4682	HITS-CLIP	23313552
MIRT688704	hsa-miR-1913	HITS-CLIP	23313552
MIRT688703	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT688702	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT688701	hsa-miR-302a-5p	HITS-CLIP	23313552
MIRT688700	hsa-miR-496	HITS-CLIP	23313552
MIRT688699	hsa-miR-7976	HITS-CLIP	23313552
MIRT688698	hsa-miR-3173-5p	HITS-CLIP	23313552
MIRT688697	hsa-miR-6799-3p	HITS-CLIP	23313552
MIRT688696	hsa-miR-146b-3p	HITS-CLIP	23313552
MIRT688695	hsa-miR-630	HITS-CLIP	23313552
MIRT688694	hsa-miR-142-3p	HITS-CLIP	23313552
MIRT688693	hsa-miR-1200	HITS-CLIP	23313552
MIRT688692	hsa-miR-4727-5p	HITS-CLIP	23313552
MIRT688691	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT688690	hsa-miR-1273h-3p	HITS-CLIP	23313552
MIRT688689	hsa-miR-3678-3p	HITS-CLIP	23313552
MIRT688688	hsa-miR-1303	HITS-CLIP	23313552
MIRT688687	hsa-miR-6738-3p	HITS-CLIP	23313552
MIRT688686	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT478924	hsa-miR-4694-3p	PAR-CLIP	23592263
MIRT478923	hsa-miR-224-3p	PAR-CLIP	23592263
MIRT478922	hsa-miR-522-3p	PAR-CLIP	23592263
MIRT478921	hsa-miR-216a-5p	PAR-CLIP	23592263
MIRT478914	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT478920	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT478919	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT478918	hsa-miR-8060	PAR-CLIP	23592263
MIRT478917	hsa-miR-6744-5p	PAR-CLIP	23592263
MIRT478916	hsa-miR-1255a	PAR-CLIP	23592263
MIRT478915	hsa-miR-1255b-5p	PAR-CLIP	23592263
MIRT478914	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT478913	hsa-miR-7154-5p	PAR-CLIP	23592263
MIRT478912	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT688725	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT688724	hsa-miR-548av-5p	HITS-CLIP	23313552
MIRT688723	hsa-miR-548k	HITS-CLIP	23313552
MIRT688722	hsa-miR-8054	HITS-CLIP	23313552
MIRT688721	hsa-miR-548l	HITS-CLIP	23313552
MIRT688720	hsa-miR-3609	HITS-CLIP	23313552
MIRT688719	hsa-miR-548ah-5p	HITS-CLIP	23313552
MIRT688718	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT688717	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT051022	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT688716	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT688715	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT688714	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT688713	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT688712	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT688711	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT205178	hsa-miR-3121-3p	HITS-CLIP	23313552
MIRT205179	hsa-miR-4255	HITS-CLIP	23313552
MIRT688710	hsa-miR-200a-5p	HITS-CLIP	23313552
MIRT688709	hsa-miR-200b-5p	HITS-CLIP	23313552
MIRT688708	hsa-miR-4778-5p	HITS-CLIP	23313552
MIRT688707	hsa-miR-4324	HITS-CLIP	23313552
MIRT688706	hsa-miR-544b	HITS-CLIP	23313552
MIRT688705	hsa-miR-4682	HITS-CLIP	23313552
MIRT688704	hsa-miR-1913	HITS-CLIP	23313552
MIRT688703	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT688702	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT688701	hsa-miR-302a-5p	HITS-CLIP	23313552
MIRT688700	hsa-miR-496	HITS-CLIP	23313552
MIRT688699	hsa-miR-7976	HITS-CLIP	23313552
MIRT688698	hsa-miR-3173-5p	HITS-CLIP	23313552
MIRT688697	hsa-miR-6799-3p	HITS-CLIP	23313552
MIRT688696	hsa-miR-146b-3p	HITS-CLIP	23313552
MIRT688695	hsa-miR-630	HITS-CLIP	23313552
MIRT688694	hsa-miR-142-3p	HITS-CLIP	23313552
MIRT688693	hsa-miR-1200	HITS-CLIP	23313552
MIRT688692	hsa-miR-4727-5p	HITS-CLIP	23313552
MIRT688691	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT688690	hsa-miR-1273h-3p	HITS-CLIP	23313552
MIRT688689	hsa-miR-3678-3p	HITS-CLIP	23313552
MIRT688688	hsa-miR-1303	HITS-CLIP	23313552
MIRT688687	hsa-miR-6738-3p	HITS-CLIP	23313552
MIRT688686	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT478924	hsa-miR-4694-3p	PAR-CLIP	23592263
MIRT478923	hsa-miR-224-3p	PAR-CLIP	23592263
MIRT478922	hsa-miR-522-3p	PAR-CLIP	23592263
MIRT478921	hsa-miR-216a-5p	PAR-CLIP	23592263
MIRT478914	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT478920	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT478919	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT478918	hsa-miR-8060	PAR-CLIP	23592263
MIRT478917	hsa-miR-6744-5p	PAR-CLIP	23592263
MIRT478916	hsa-miR-1255a	PAR-CLIP	23592263
MIRT478915	hsa-miR-1255b-5p	PAR-CLIP	23592263
MIRT478914	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT478913	hsa-miR-7154-5p	PAR-CLIP	23592263
MIRT478912	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT907042	hsa-miR-1227	CLIP-seq
MIRT907043	hsa-miR-1254	CLIP-seq
MIRT907044	hsa-miR-1255b	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT907046	hsa-miR-1343	CLIP-seq
MIRT907047	hsa-miR-185	CLIP-seq
MIRT907048	hsa-miR-2052	CLIP-seq
MIRT907049	hsa-miR-216a	CLIP-seq
MIRT907050	hsa-miR-3116	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907052	hsa-miR-3120-3p	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907055	hsa-miR-3200-3p	CLIP-seq
MIRT907056	hsa-miR-338-5p	CLIP-seq
MIRT907057	hsa-miR-3545-3p	CLIP-seq
MIRT907058	hsa-miR-3685	CLIP-seq
MIRT907059	hsa-miR-3689a-3p	CLIP-seq
MIRT907060	hsa-miR-3689c	CLIP-seq
MIRT907061	hsa-miR-3690	CLIP-seq
MIRT907062	hsa-miR-384	CLIP-seq
MIRT907063	hsa-miR-4252	CLIP-seq
MIRT907064	hsa-miR-4254	CLIP-seq
MIRT907065	hsa-miR-4306	CLIP-seq
MIRT907066	hsa-miR-4422	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT907069	hsa-miR-4537	CLIP-seq
MIRT907070	hsa-miR-4644	CLIP-seq
MIRT907071	hsa-miR-4662a-5p	CLIP-seq
MIRT907072	hsa-miR-4693-3p	CLIP-seq
MIRT907073	hsa-miR-4722-5p	CLIP-seq
MIRT907074	hsa-miR-4768-3p	CLIP-seq
MIRT907075	hsa-miR-4773	CLIP-seq
MIRT907076	hsa-miR-4793-3p	CLIP-seq
MIRT907077	hsa-miR-508-5p	CLIP-seq
MIRT907078	hsa-miR-574-5p	CLIP-seq
MIRT907079	hsa-miR-766	CLIP-seq
MIRT907080	hsa-miR-891b	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT907048	hsa-miR-2052	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT1556200	hsa-miR-302f	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT907042	hsa-miR-1227	CLIP-seq
MIRT907043	hsa-miR-1254	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT907047	hsa-miR-185	CLIP-seq
MIRT907050	hsa-miR-3116	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907063	hsa-miR-4252	CLIP-seq
MIRT907064	hsa-miR-4254	CLIP-seq
MIRT907065	hsa-miR-4306	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT907070	hsa-miR-4644	CLIP-seq
MIRT907072	hsa-miR-4693-3p	CLIP-seq
MIRT907076	hsa-miR-4793-3p	CLIP-seq
MIRT907077	hsa-miR-508-5p	CLIP-seq
MIRT907079	hsa-miR-766	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT2508251	hsa-miR-1323	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT2508252	hsa-miR-141	CLIP-seq
MIRT2508253	hsa-miR-198	CLIP-seq
MIRT2508254	hsa-miR-200a	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT2508255	hsa-miR-3164	CLIP-seq
MIRT2508256	hsa-miR-3181	CLIP-seq
MIRT2508257	hsa-miR-3613-3p	CLIP-seq
MIRT2508258	hsa-miR-3618	CLIP-seq
MIRT2508259	hsa-miR-371-5p	CLIP-seq
MIRT2508260	hsa-miR-371b-5p	CLIP-seq
MIRT2508261	hsa-miR-3920	CLIP-seq
MIRT2508262	hsa-miR-4480	CLIP-seq
MIRT2508263	hsa-miR-4668-3p	CLIP-seq
MIRT2508264	hsa-miR-4686	CLIP-seq
MIRT2508265	hsa-miR-548a-3p	CLIP-seq
MIRT2508266	hsa-miR-548ac	CLIP-seq
MIRT2508267	hsa-miR-548ae	CLIP-seq
MIRT2508268	hsa-miR-548aj	CLIP-seq
MIRT2508269	hsa-miR-548am	CLIP-seq
MIRT2508270	hsa-miR-548d-3p	CLIP-seq
MIRT2508271	hsa-miR-548e	CLIP-seq
MIRT2508272	hsa-miR-548f	CLIP-seq
MIRT2508273	hsa-miR-548o	CLIP-seq
MIRT2508274	hsa-miR-548x	CLIP-seq
MIRT2508275	hsa-miR-548z	CLIP-seq
MIRT2508276	hsa-miR-570	CLIP-seq
MIRT2508277	hsa-miR-934	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT2508252	hsa-miR-141	CLIP-seq
MIRT2508254	hsa-miR-200a	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT2508255	hsa-miR-3164	CLIP-seq
MIRT2508256	hsa-miR-3181	CLIP-seq
MIRT2508257	hsa-miR-3613-3p	CLIP-seq
MIRT2508258	hsa-miR-3618	CLIP-seq
MIRT2508259	hsa-miR-371-5p	CLIP-seq
MIRT2508260	hsa-miR-371b-5p	CLIP-seq
MIRT2508261	hsa-miR-3920	CLIP-seq
MIRT2508262	hsa-miR-4480	CLIP-seq
MIRT2508263	hsa-miR-4668-3p	CLIP-seq
MIRT2508264	hsa-miR-4686	CLIP-seq
MIRT2508266	hsa-miR-548ac	CLIP-seq
MIRT2508267	hsa-miR-548ae	CLIP-seq
MIRT2508268	hsa-miR-548aj	CLIP-seq
MIRT2508269	hsa-miR-548am	CLIP-seq
MIRT2508270	hsa-miR-548d-3p	CLIP-seq
MIRT2508274	hsa-miR-548x	CLIP-seq
MIRT2508275	hsa-miR-548z	CLIP-seq
MIRT2508277	hsa-miR-934	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IEA
GO:0000050	Process	Urea cycle	NAS	1840546
GO:0000050	Process	Urea cycle	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0001889	Process	Liver development	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004087	Function	Carbamoyl-phosphate synthase (ammonia) activity	EXP	6249820
GO:0004087	Function	Carbamoyl-phosphate synthase (ammonia) activity	IBA
GO:0004087	Function	Carbamoyl-phosphate synthase (ammonia) activity	IEA
GO:0004087	Function	Carbamoyl-phosphate synthase (ammonia) activity	IMP	8486760, 9711878
GO:0004088	Function	Carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IBA
GO:0004088	Function	Carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IEA
GO:0004175	Function	Endopeptidase activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12620389, 15161933, 20618440
GO:0005524	Function	ATP binding	IEA
GO:0005543	Function	Phospholipid binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006207	Process	'de novo' pyrimidine nucleobase biosynthetic process	IEA
GO:0006541	Process	Glutamine metabolic process	IBA
GO:0006541	Process	Glutamine metabolic process	IEA
GO:0007494	Process	Midgut development	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0014075	Process	Response to amine	IEA
GO:0016020	Component	Membrane	IEA
GO:0016595	Function	Glutamate binding	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0019240	Process	Citrulline biosynthetic process	NAS	14718356
GO:0019433	Process	Triglyceride catabolic process	IMP	9711878
GO:0030955	Function	Potassium ion binding	EXP	26592762
GO:0032094	Process	Response to food	IEA
GO:0032496	Process	Response to lipopolysaccharide	IDA	15897806
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033762	Process	Response to glucagon	IEA
GO:0034201	Process	Response to oleic acid	IEA
GO:0036094	Function	Small molecule binding	EXP	26592762
GO:0042311	Process	Vasodilation	IMP	14718356
GO:0042594	Process	Response to starvation	IEA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0043200	Process	Response to amino acid	IEA
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046209	Process	Nitric oxide metabolic process	IMP	14718356
GO:0046872	Function	Metal ion binding	EXP	26592762
GO:0046872	Function	Metal ion binding	IEA
GO:0048545	Process	Response to steroid hormone	IEA
GO:0050667	Process	Homocysteine metabolic process	IDA	20031578
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0051591	Process	Response to cAMP	IEA
GO:0055081	Process	Monoatomic anion homeostasis	IEA
GO:0060416	Process	Response to growth hormone	IEA
GO:0070365	Process	Hepatocyte differentiation	IEA
GO:0070409	Process	Carbamoyl phosphate biosynthetic process	IMP	7416778, 21120950
GO:0071242	Process	Cellular response to ammonium ion	IMP	21120950
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071377	Process	Cellular response to glucagon stimulus	IEA
GO:0071400	Process	Cellular response to oleic acid	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0072341	Function	Modified amino acid binding	IDA	20031578
GO:0097305	Process	Response to alcohol	IEA

Other IDs

• MIM: 608307
• HGNC: 2323
• e!Ensembl: ENSG00000021826

Protein

• UniProt ID: P31327
• Protein name: Carbamoyl-phosphate synthase [ammonia], mitochondrial (EC 6.3.4.16) (Carbamoyl-phosphate synthetase I) (CPSase I)
• Protein function: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.
• PDB: 2YVQ, 4UTR, 4UTV, 4UTX, 4UTZ, 4UU7, 4UU8, 4UUA, 4UUB, 5DOT, 5DOU, 5OJO, 6UEL, 6W2J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00988	CPSase_sm_chain	45 → 183	Carbamoyl-phosphate synthase small chain, CPSase domain	Domain
  PF00117	GATase	221 → 397	Glutamine amidotransferase class-I	Domain
  PF02786	CPSase_L_D2	546 → 750	Carbamoyl-phosphate synthase L chain, ATP binding domain	Domain
  PF02787	CPSase_L_D3	841 → 920	Carbamoyl-phosphate synthetase large chain, oligomerisation domain	Domain
  PF02786	CPSase_L_D2	1088 → 1291	Carbamoyl-phosphate synthase L chain, ATP binding domain	Domain
  PF02142	MGS	1373 → 1465	MGS-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Primarily in the liver and small intestine.
• Sequence:

  MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYS
  FGHPSSVAGEVVFNTGLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKY
  LESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTML
  GKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGA
  EVHLVPWNHDFTKMEYDGILIAGGPGNPALAEPLIQNVRKILESDRKEPLFGISTGNLIT
  GLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQT
  NEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRV
  EVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQAD
  TVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVES
  IMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGIC
  PNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHT
  GDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLS
  RSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDR
  FHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDLR
  KELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNSESMT
  EETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSVTNYLYV
  TYNGQEHDVNFDDHGMMVLGCGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVNCNPETV
  STDFDECDKLYFEELSLERILDIYHQEACGGCIISVGGQIPNNLAVPLYKNGVKIMGTSP
  LQIDRAEDRSIFSAVLDELKVAQAPWKAVNTLNEALEFAKSVDYPCLLRPSYVLSGSAMN
  VVFSEDEMKKFLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISHAISEHVEDAG
  VHSGDATLMLPTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRA
  SRSFPFVSKTLGVDFIDVATKVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFSWPRLRD
  ADPILRCEMASTGEVACFGEGIHTAFLKAMLSTGFKIPQKGILIGIQQSFRPRFLGVAEQ
  LHNEGFKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPN
  NNTKFVHDNYVIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQYSAGKAA
  

• Sequence length: 1500

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
Congenital hyperammonemia, type I	Likely pathogenic; Pathogenic	rs2106109125, rs2105840261, rs1206168005, rs1553513433, rs2105910926, rs1319489001, rs2105922845, rs2106113137, rs1375157321, rs2106126181, rs774484322, rs1698929326, rs2105850258, rs2105859138, rs756337473, rs2105922857, rs1172971002, rs2106113312, rs1179151808, rs1245368879, rs1700452978, rs761271604, rs1305369403, rs2105858978, rs2105901763, rs2106103778, rs2105926082, rs1296603906, rs772576138, rs2106081592, rs1280211937, rs1446095060, rs2105942900, rs1327048960, rs2105908864, rs766705843, rs1559142152, rs777614848, rs2105859077, rs371350538, rs1700129715, rs2105920599, rs2105907969, rs2106126478, rs2105859007, rs2106079710, rs2105945930, rs767550452, rs727502824, rs753751183, rs121912592, rs121912593, rs28940283, rs121912595, rs121912596, rs2469332659, rs2469088141, rs2469186938, rs2469155697, rs2469311652, rs2469186568, rs2469169661, rs2469150531, rs1433664240, rs2469147177, rs2469293354, rs2469163518, rs2469168948, rs2469311449, rs2469268786, rs2469199404, rs2469340233, rs755580814, rs2469292614, rs2469263818, rs2469293517, rs2469339987, rs2469156053, rs2469339814, rs2469268629, rs2469311670, rs1383652187, rs2469332697, rs2469150591, rs2469275756, rs2469258993, rs147062907, rs2469258832, rs138779023, rs2469258613, rs2469311469, rs2469155866, rs2469112664, rs2469186731, rs2469040241, rs2469120721, rs1015051007, rs1700132195, rs2469077866, rs2469186636, rs1339003853, rs1574566640, rs2469378876, rs1698686080, rs2469164069, rs2469112532, rs1553511083, rs1460868239, rs2469186899, rs2469146777, rs2469120731, rs2469164155, rs2469120980, rs2469133056, rs1700264768, rs2469326727, rs1698864575, rs2469077959, rs2469311420, rs1463871450, rs2469186694, rs2469263961, rs2469275844, rs2469293001, rs2469385921, rs1553513387, rs2469176015, rs2469381364, rs369061090, rs200214298, rs2469078388, rs2469187129, rs1700129673, rs1191587211, rs1272460783, rs761328915, rs777691939, rs1182802068, rs1700265109, rs2469146969, rs2469133074, rs2469326851, rs2469301648, rs2469357366, rs1277965530, rs2469146865, rs2469381777, rs2469295737, rs2469127879, rs1242028775, rs2469319058, rs2469186735, rs2469293413, rs2469268660, rs2469123884, rs2469163948, rs2469332928, rs1335664604, rs2469136211, rs2469112687, rs2469123781, rs2469357553, rs1700085731, rs2469378722, rs2469175870, rs1553518719, rs2469333132, rs2469258592, rs2469150511, rs2469088130, rs1700455336, rs1278381406, rs2469295766, rs758724746, rs1559129372, rs1553509010, rs1064794258, rs772497399, rs1326644714, rs1553511785, rs1288123680, rs1553518389, rs1375304341, rs1553513429, rs759201450, rs1553509023, rs973321068, rs1553512225, rs1553512642, rs754706559, rs1553516443, rs1553516660, rs1553517670, rs1553507155, rs1553509303, rs1553509661, rs761225695, rs961015305, rs1275489342, rs1553511789, rs202107577, rs781088670, rs755882799, rs1553517122, rs1553509924, rs756021170, rs1553511326, rs201407486, rs1414143303, rs764384490, rs1341782266, rs1553518726, rs1553513864, rs765484849, rs1553507167, rs1553507183, rs1553510520, rs1318756445, rs1553510944, rs1553517224, rs1290474919, rs772782772, rs1553518720, rs767575696, rs766584384, rs1553518395, rs1374322297, rs778346264, rs201716417, rs767694281, rs1233577562, rs1574548003, rs1574543988, rs1574577755, rs1574566578, rs1574567901, rs1574646079, rs1698314043, rs1698355880, rs1699004800, rs1700635072, rs1264586092, rs1700887978, rs1700454068, rs1699000892, rs1699310540, rs1700437565, rs1701171267, rs933813349, rs1698622742, rs1698631663, rs1698686495, rs1698754274, rs1251623714, rs1698930454, rs1337182136, rs1698933356, rs1574586310, rs1699148940, rs1699157096, rs1699309581, rs1699310308, rs1700084097, rs1028099185, rs1700257346, rs1700428230, rs779856996, rs1700523651, rs1700715255, rs774692248, rs1700881929, rs1305147387, rs1701172643, rs1700979727, rs1698357897	RCV001375866 RCV001375867 RCV001379633 RCV001377851 RCV001378378 RCV001378075 RCV001379407 RCV001390724 RCV001382268 RCV001380978 RCV001380979 RCV001380479 RCV001384350 RCV001385247 RCV001390612 RCV001390872 RCV001381094 RCV001647339 RCV001553672 RCV001779494 RCV001844568 RCV001897177 RCV001984316 RCV001907227 RCV001968968 RCV002021997 RCV001941686 RCV001946749 RCV001865140 RCV001981780 RCV002003812 RCV001990006 RCV002002355 RCV001999712 RCV001918009 RCV002020754 RCV002031711 RCV001946627 RCV001949466 RCV001956334 RCV002026249 RCV001972722 RCV001972585 RCV001938120 RCV001974483 RCV002249835 RCV002249836 RCV002289044 RCV000149915 RCV000002519 RCV000002520 RCV000002521 RCV000002522 RCV000002526 RCV000002528 RCV002306498 RCV002306535 RCV002306625 RCV002306629 RCV002306746 RCV002306809 RCV002309594 RCV002309721 RCV002309820 RCV002309876 RCV002309879 RCV002309997 RCV002310060 RCV002307920 RCV002307985 RCV002308115 RCV002308276 RCV002308348 RCV002308381 RCV002309055 RCV002309109 RCV002309128 RCV002309190 RCV002309218 RCV002309313 RCV002309347 RCV002309509 RCV002306940 RCV002307030 RCV002307198 RCV002307219 RCV002307264 RCV002310074 RCV002310202 RCV002310304 RCV002310340 RCV002310380 RCV002310529 RCV002470032 RCV003087104 RCV002651590 RCV002651591 RCV002651594 RCV002651595 RCV002614393 RCV002657851 RCV002671333 RCV002658510 RCV002720739 RCV002727210 RCV002842530 RCV002861760 RCV002880878 RCV002898785 RCV002875882 RCV002885434 RCV002881873 RCV002963200 RCV002976506 RCV002999778 RCV003017320 RCV003057765 RCV003036627 RCV003056366 RCV003603134 RCV003110198 RCV003110199 RCV003110200 RCV003110203 RCV003110204 RCV003110205 RCV003110206 RCV003143804 RCV003141665 RCV003141674 RCV003143810 RCV000667844 RCV002519139 RCV003335983 RCV003498012 RCV004574048 RCV005030054 RCV003603171 RCV005030055 RCV003603172 RCV003603173 RCV003603174 RCV003486524 RCV003498218 RCV003498266 RCV003498802 RCV003499192 RCV003499202 RCV003499240 RCV003499136 RCV003498963 RCV003499917 RCV003499918 RCV003497392 RCV003497468 RCV003497645 RCV003498448 RCV003498378 RCV003498775 RCV003499500 RCV003603490 RCV003604183 RCV003604485 RCV003604505 RCV003604848 RCV003604940 RCV003602633 RCV003603682 RCV003603963 RCV003825366 RCV003827617 RCV003858359 RCV003870827 RCV003989169 RCV003990557 RCV003990641 RCV005618360 RCV004577419 RCV001380980 RCV000023698 RCV000477877 RCV005632418 RCV000702328 RCV000690237 RCV000539406 RCV000529677 RCV000578300 RCV000589986 RCV000655213 RCV000655211 RCV000672330 RCV000664568 RCV000668963 RCV000664516 RCV000673757 RCV000674444 RCV000664614 RCV000674031 RCV000671406 RCV000669628 RCV000671809 RCV000672320 RCV000674394 RCV000669529 RCV000672757 RCV000674202 RCV000669578 RCV000673682 RCV000671803 RCV000671123 RCV000669673 RCV000666827 RCV000672677 RCV000665437 RCV000667858 RCV000669266 RCV000665850 RCV000674800 RCV000668711 RCV000674758 RCV000671041 RCV000673929 RCV000667346 RCV000674114 RCV000673303 RCV000674756 RCV000674980 RCV000674344 RCV000672818 RCV000667061 RCV000668329 RCV000667803 RCV000670805 RCV000668983 RCV000672280 RCV000781315 RCV000813104 RCV000816596 RCV000818676 RCV000812446 RCV000800633 RCV000792675 RCV000986993 RCV000986995 RCV000986996 RCV000986998 RCV001045342 RCV001059094 RCV001043431 RCV001039493 RCV001057661 RCV001069987 RCV001174969 RCV001193021 RCV001201653 RCV001205119 RCV001234058 RCV001241984 RCV001264191 RCV001264192 RCV001264193 RCV001264194 RCV001264195 RCV001264196 RCV001264197 RCV001264198 RCV001263623 RCV001263624 RCV001263625 RCV001263626 RCV001263627 RCV001263628 RCV001263629 RCV001263630 RCV001263914 RCV001263915 RCV001263916 RCV001263917 RCV001263918 RCV001263919 RCV001263920 RCV001263921 RCV001264081 RCV001264082 RCV001293465 RCV001298254	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CPS1-related disorder	Likely pathogenic; Pathogenic	rs1375157321, rs369061090	RCV004731144 RCV003409396	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs1015051007	RCV004540597	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs1700129715	RCV005925636	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary hypertension, neonatal, susceptibility to	Likely pathogenic; Pathogenic	rs1206168005, rs1319489001, rs1375157321, rs2106126181, rs774484322, rs756337473, rs1172971002, rs1179151808, rs1700452978, rs2105901763, rs2106103778, rs772576138, rs1446095060, rs2105908864, rs766705843, rs1559142152, rs371350538, rs2105920599, rs753751183, rs121912592, rs121912593, rs121912596, rs2469120721, rs1015051007, rs1698686080, rs2469186899, rs2469120731, rs2469164155, rs369061090, rs200214298, rs2469187129, rs1553510520, rs2469155984, rs2469040078, rs2469311319, rs1700129673, rs2469332489, rs1191587211, rs2469118287, rs2469275983, rs1700436943, rs1272460783, rs2469164030, rs2469263865, rs2469340389, rs2469151306, rs763451208, rs2469147659, rs2469136520, rs2469085589, rs761328915, rs2469385526, rs2469155949, rs2469040081, rs2469127680, rs2469040102, rs777691939, rs1245373037, rs2469319050, rs1182802068, rs1700265109, rs2469169855, rs755882799, rs2469258335, rs2469078183, rs2469146910, rs2469186375, rs1242028775, rs2469186735, rs2469268660, rs2469258592, rs1251772368, rs1278381406, rs2469136580, rs2469112567, rs2469295446, rs2469311320, rs2469164095, rs758724746, rs1559129372, rs1553509010, rs1064794258, rs772497399, rs1326644714, rs1288123680, rs1375304341, rs1553509023, rs973321068, rs1553512225, rs1553512642, rs754706559, rs1553516443, rs1553509661, rs761225695, rs1275489342, rs202107577, rs756021170, rs201407486, rs1414143303, rs764384490, rs765484849, rs1318756445, rs1290474919, rs772782772, rs1553518720, rs767575696, rs1374322297, rs201716417, rs767694281, rs1574548003, rs1698355880, rs1264586092, rs1699000892, rs1700437565, rs1701171267, rs933813349, rs1251623714, rs774692248, rs1700979727	RCV003469641 RCV004570926 RCV003469674 RCV003469655 RCV003469656 RCV004570974 RCV003469658 RCV003470863 RCV003470940 RCV003471213 RCV005025573 RCV003470966 RCV005025504 RCV002478306 RCV003471268 RCV005025681 RCV003471189 RCV003471187 RCV003466783 RCV003466784 RCV004566674 RCV003466785 RCV005028324 RCV004572812 RCV003465821 RCV004571787 RCV004572499 RCV004572514 RCV003469214 RCV003469230 RCV003468516 RCV003468517 RCV003468518 RCV003468519 RCV003468520 RCV003468521 RCV003468522 RCV003468523 RCV003468524 RCV003468525 RCV003468526 RCV003468527 RCV003468528 RCV003468530 RCV003468531 RCV003468532 RCV003468533 RCV003468534 RCV003468535 RCV003468536 RCV003468537 RCV003468538 RCV003468539 RCV003468540 RCV003468541 RCV003468542 RCV003468543 RCV003468544 RCV003468545 RCV003468546 RCV003468547 RCV003468548 RCV003468549 RCV003468550 RCV003468551 RCV003468552 RCV003468553 RCV003468554 RCV005030111 RCV004574115 RCV005030131 RCV004573377 RCV004575677 RCV004575678 RCV004575679 RCV004575680 RCV004575681 RCV004575682 RCV004575683 RCV003470360 RCV003466872 RCV000477877 RCV003470553 RCV002481697 RCV003470657 RCV003470799 RCV003465325 RCV005027815 RCV003465435 RCV003465488 RCV005027773 RCV005027827 RCV003465436 RCV003465515 RCV005027826 RCV003465517 RCV003465493 RCV005027785 RCV003465442 RCV000763066 RCV003465490 RCV003465506 RCV003465526 RCV003465535 RCV003465519 RCV005027787 RCV003465484 RCV003465514 RCV002495136 RCV003467478 RCV004569681 RCV003467798 RCV003467787 RCV005029739 RCV002497695 RCV004570588 RCV003469460 RCV003469494 RCV003469491 RCV005029862	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs1553513433	RCV005901465	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY DISEASE	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERAMMONEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERAMMONEMIA DUE TO CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR TELANGIECTASIA TYPE 2	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal encephalopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL PULMONARY HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations