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PGAP3 (post-GPI attachment to proteins phospholipase 3)

Gene

93210

Post-GPI attachment to proteins phospholipase 3

PGAP3

AGLA546, CAB2, PERLD1, PP1498, hCOS16

17q12

This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from

Show/Hide all(21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144574243	C>A,T	Pathogenic	Splice donor variant, intron variant
rs183208638	G>A	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, non coding transcript variant, genic downstream transcript variant
rs200598755	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant
rs202146344	G>A	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs371549948	G>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs587777251	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs587777252	T>C	Pathogenic, likely-pathogenic	Stop lost, coding sequence variant, downstream transcript variant, terminator codon variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs746891574	G>C	Likely-pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs750093817	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, downstream transcript variant, intron variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs759541820	G>A,C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs776720232	T>C,G	Pathogenic	Non coding transcript variant, missense variant, intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs869312812	G>-,GG	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs869312813	C>A,T	Pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, downstream transcript variant
rs869312814	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, downstream transcript variant
rs869312815	->G	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs869312816	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs869312817	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, downstream transcript variant
rs1555610241	C>T	Pathogenic	Intron variant, splice donor variant
rs1555610292	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1567870911	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1567871748	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained

Show/Hide all(366)

miRTarBase ID	miRNA	Experiments	Reference
MIRT712655	hsa-miR-4311	HITS-CLIP	19536157
MIRT712654	hsa-miR-513c-5p	HITS-CLIP	19536157
MIRT712653	hsa-miR-514b-5p	HITS-CLIP	19536157
MIRT712655	hsa-miR-4311	HITS-CLIP	19536157
MIRT712654	hsa-miR-513c-5p	HITS-CLIP	19536157
MIRT712653	hsa-miR-514b-5p	HITS-CLIP	19536157
MIRT1227141	hsa-miR-1207-3p	CLIP-seq
MIRT1227142	hsa-miR-1207-5p	CLIP-seq
MIRT1227143	hsa-miR-1324	CLIP-seq
MIRT1227144	hsa-miR-299-3p	CLIP-seq
MIRT1227145	hsa-miR-3150a-3p	CLIP-seq
MIRT1227146	hsa-miR-3151	CLIP-seq
MIRT1227147	hsa-miR-3155	CLIP-seq
MIRT1227148	hsa-miR-3155b	CLIP-seq
MIRT1227149	hsa-miR-3173-3p	CLIP-seq
MIRT1227150	hsa-miR-3175	CLIP-seq
MIRT1227151	hsa-miR-3667-3p	CLIP-seq
MIRT1227152	hsa-miR-370	CLIP-seq
MIRT1227153	hsa-miR-3929	CLIP-seq
MIRT1227154	hsa-miR-3938	CLIP-seq
MIRT1227155	hsa-miR-4261	CLIP-seq
MIRT1227156	hsa-miR-4419b	CLIP-seq
MIRT1227157	hsa-miR-4428	CLIP-seq
MIRT1227158	hsa-miR-4447	CLIP-seq
MIRT1227159	hsa-miR-4450	CLIP-seq
MIRT1227160	hsa-miR-4472	CLIP-seq
MIRT1227161	hsa-miR-4478	CLIP-seq
MIRT1227162	hsa-miR-4496	CLIP-seq
MIRT1227163	hsa-miR-4667-5p	CLIP-seq
MIRT1227164	hsa-miR-4695-5p	CLIP-seq
MIRT1227165	hsa-miR-4700-5p	CLIP-seq
MIRT1227166	hsa-miR-4731-5p	CLIP-seq
MIRT1227167	hsa-miR-4736	CLIP-seq
MIRT1227168	hsa-miR-4738-3p	CLIP-seq
MIRT1227169	hsa-miR-4763-3p	CLIP-seq
MIRT1227170	hsa-miR-4764-5p	CLIP-seq
MIRT1227171	hsa-miR-4793-5p	CLIP-seq
MIRT1227172	hsa-miR-484	CLIP-seq
MIRT1227173	hsa-miR-485-5p	CLIP-seq
MIRT1227174	hsa-miR-491-5p	CLIP-seq
MIRT1227175	hsa-miR-542-3p	CLIP-seq
MIRT1227176	hsa-miR-642a	CLIP-seq
MIRT1227177	hsa-miR-765	CLIP-seq
MIRT1227178	hsa-miR-939	CLIP-seq
MIRT2066563	hsa-miR-4451	CLIP-seq
MIRT2066564	hsa-miR-4668-3p	CLIP-seq
MIRT2066565	hsa-miR-4688	CLIP-seq
MIRT2066566	hsa-miR-548c-3p	CLIP-seq
MIRT2293930	hsa-let-7a	CLIP-seq
MIRT2293931	hsa-let-7b	CLIP-seq
MIRT2293932	hsa-let-7c	CLIP-seq
MIRT2293933	hsa-let-7d	CLIP-seq
MIRT2293934	hsa-let-7e	CLIP-seq
MIRT2293935	hsa-let-7f	CLIP-seq
MIRT2293936	hsa-let-7g	CLIP-seq
MIRT2293937	hsa-let-7i	CLIP-seq
MIRT2293938	hsa-miR-10a	CLIP-seq
MIRT2293939	hsa-miR-10b	CLIP-seq
MIRT1227142	hsa-miR-1207-5p	CLIP-seq
MIRT2293940	hsa-miR-1208	CLIP-seq
MIRT2293941	hsa-miR-1226	CLIP-seq
MIRT2293942	hsa-miR-1228	CLIP-seq
MIRT2293943	hsa-miR-1236	CLIP-seq
MIRT2293944	hsa-miR-1245b-5p	CLIP-seq
MIRT2293945	hsa-miR-1273d	CLIP-seq
MIRT2293946	hsa-miR-127-5p	CLIP-seq
MIRT2293947	hsa-miR-1285	CLIP-seq
MIRT2293948	hsa-miR-1286	CLIP-seq
MIRT2293949	hsa-miR-1289	CLIP-seq
MIRT2293950	hsa-miR-1294	CLIP-seq
MIRT2293951	hsa-miR-1299	CLIP-seq
MIRT2293952	hsa-miR-1321	CLIP-seq
MIRT1227143	hsa-miR-1324	CLIP-seq
MIRT2293953	hsa-miR-133a	CLIP-seq
MIRT2293954	hsa-miR-133b	CLIP-seq
MIRT2293955	hsa-miR-136	CLIP-seq
MIRT2293956	hsa-miR-138	CLIP-seq
MIRT2293957	hsa-miR-147	CLIP-seq
MIRT2293958	hsa-miR-1470	CLIP-seq
MIRT2293959	hsa-miR-1587	CLIP-seq
MIRT2293960	hsa-miR-181a	CLIP-seq
MIRT2293961	hsa-miR-181b	CLIP-seq
MIRT2293962	hsa-miR-181c	CLIP-seq
MIRT2293963	hsa-miR-181d	CLIP-seq
MIRT2293964	hsa-miR-183	CLIP-seq
MIRT2293965	hsa-miR-188-5p	CLIP-seq
MIRT2293966	hsa-miR-1908	CLIP-seq
MIRT2293967	hsa-miR-1909	CLIP-seq
MIRT2293968	hsa-miR-1914	CLIP-seq
MIRT2293969	hsa-miR-214	CLIP-seq
MIRT2293970	hsa-miR-296-5p	CLIP-seq
MIRT2293971	hsa-miR-3064-3p	CLIP-seq
MIRT2293972	hsa-miR-3122	CLIP-seq
MIRT2293973	hsa-miR-3127-3p	CLIP-seq
MIRT2293974	hsa-miR-3136-3p	CLIP-seq
MIRT2293975	hsa-miR-3141	CLIP-seq
MIRT2293976	hsa-miR-3142	CLIP-seq
MIRT2293977	hsa-miR-3144-5p	CLIP-seq
MIRT2293978	hsa-miR-3145-5p	CLIP-seq
MIRT1227145	hsa-miR-3150a-3p	CLIP-seq
MIRT1227146	hsa-miR-3151	CLIP-seq
MIRT2293979	hsa-miR-3154	CLIP-seq
MIRT1227147	hsa-miR-3155	CLIP-seq
MIRT1227148	hsa-miR-3155b	CLIP-seq
MIRT1227150	hsa-miR-3175	CLIP-seq
MIRT2293980	hsa-miR-3184	CLIP-seq
MIRT2293981	hsa-miR-3187-5p	CLIP-seq
MIRT2293982	hsa-miR-3191	CLIP-seq
MIRT2293983	hsa-miR-3192	CLIP-seq
MIRT2293984	hsa-miR-3198	CLIP-seq
MIRT2293985	hsa-miR-329	CLIP-seq
MIRT2293986	hsa-miR-342-3p	CLIP-seq
MIRT2293987	hsa-miR-3616-3p	CLIP-seq
MIRT2293988	hsa-miR-3619-5p	CLIP-seq
MIRT2293989	hsa-miR-362-3p	CLIP-seq
MIRT2293990	hsa-miR-3652	CLIP-seq
MIRT1227151	hsa-miR-3667-3p	CLIP-seq
MIRT2293991	hsa-miR-3670	CLIP-seq
MIRT2293992	hsa-miR-3688-3p	CLIP-seq
MIRT2293993	hsa-miR-3689a-3p	CLIP-seq
MIRT2293994	hsa-miR-3689c	CLIP-seq
MIRT2293995	hsa-miR-377	CLIP-seq
MIRT2293996	hsa-miR-378g	CLIP-seq
MIRT2293997	hsa-miR-3911	CLIP-seq
MIRT2293998	hsa-miR-3913-5p	CLIP-seq
MIRT2293999	hsa-miR-3926	CLIP-seq
MIRT2294000	hsa-miR-3927	CLIP-seq
MIRT1227154	hsa-miR-3938	CLIP-seq
MIRT2294001	hsa-miR-3939	CLIP-seq
MIRT2294002	hsa-miR-3977	CLIP-seq
MIRT2294003	hsa-miR-3978	CLIP-seq
MIRT2294004	hsa-miR-423-5p	CLIP-seq
MIRT2294005	hsa-miR-4262	CLIP-seq
MIRT2294006	hsa-miR-4277	CLIP-seq
MIRT2294007	hsa-miR-4281	CLIP-seq
MIRT2294008	hsa-miR-4286	CLIP-seq
MIRT2294009	hsa-miR-4294	CLIP-seq
MIRT2294010	hsa-miR-4297	CLIP-seq
MIRT2294011	hsa-miR-4299	CLIP-seq
MIRT2294012	hsa-miR-4309	CLIP-seq
MIRT2294013	hsa-miR-4314	CLIP-seq
MIRT2294014	hsa-miR-4316	CLIP-seq
MIRT2294015	hsa-miR-4417	CLIP-seq
MIRT2294016	hsa-miR-4430	CLIP-seq
MIRT2294017	hsa-miR-4434	CLIP-seq
MIRT2294018	hsa-miR-4436b-3p	CLIP-seq
MIRT2294019	hsa-miR-4446-3p	CLIP-seq
MIRT1227158	hsa-miR-4447	CLIP-seq
MIRT2066563	hsa-miR-4451	CLIP-seq
MIRT2294020	hsa-miR-4453	CLIP-seq
MIRT2294021	hsa-miR-4458	CLIP-seq
MIRT2294022	hsa-miR-4459	CLIP-seq
MIRT2294023	hsa-miR-4464	CLIP-seq
MIRT2294024	hsa-miR-4469	CLIP-seq
MIRT2294025	hsa-miR-4470	CLIP-seq
MIRT1227160	hsa-miR-4472	CLIP-seq
MIRT2294026	hsa-miR-4477a	CLIP-seq
MIRT2294027	hsa-miR-4486	CLIP-seq
MIRT2294028	hsa-miR-4490	CLIP-seq
MIRT2294029	hsa-miR-4492	CLIP-seq
MIRT2294030	hsa-miR-4498	CLIP-seq
MIRT2294031	hsa-miR-4500	CLIP-seq
MIRT2294032	hsa-miR-4503	CLIP-seq
MIRT2294033	hsa-miR-4505	CLIP-seq
MIRT2294034	hsa-miR-450b-3p	CLIP-seq
MIRT2294035	hsa-miR-4514	CLIP-seq
MIRT2294036	hsa-miR-4516	CLIP-seq
MIRT2294037	hsa-miR-4530	CLIP-seq
MIRT2294038	hsa-miR-4538	CLIP-seq
MIRT2294039	hsa-miR-4633-3p	CLIP-seq
MIRT2294040	hsa-miR-4639-3p	CLIP-seq
MIRT2294041	hsa-miR-4646-5p	CLIP-seq
MIRT2294042	hsa-miR-4651	CLIP-seq
MIRT2294043	hsa-miR-4652-5p	CLIP-seq
MIRT2294044	hsa-miR-4656	CLIP-seq
MIRT2294045	hsa-miR-4661-3p	CLIP-seq
MIRT2294046	hsa-miR-4667-3p	CLIP-seq
MIRT2066564	hsa-miR-4668-3p	CLIP-seq
MIRT2294047	hsa-miR-4675	CLIP-seq
MIRT2294048	hsa-miR-4677-3p	CLIP-seq
MIRT2294049	hsa-miR-4685-5p	CLIP-seq
MIRT2066565	hsa-miR-4688	CLIP-seq
MIRT2294050	hsa-miR-4691-5p	CLIP-seq
MIRT2294051	hsa-miR-4692	CLIP-seq
MIRT2294052	hsa-miR-4694-3p	CLIP-seq
MIRT1227164	hsa-miR-4695-5p	CLIP-seq
MIRT2294053	hsa-miR-4701-5p	CLIP-seq
MIRT2294054	hsa-miR-4704-3p	CLIP-seq
MIRT2294055	hsa-miR-4710	CLIP-seq
MIRT2294056	hsa-miR-4715-3p	CLIP-seq
MIRT2294057	hsa-miR-4717-3p	CLIP-seq
MIRT2294058	hsa-miR-4721	CLIP-seq
MIRT2294059	hsa-miR-4722-5p	CLIP-seq
MIRT2294060	hsa-miR-4725-5p	CLIP-seq
MIRT2294061	hsa-miR-4726-3p	CLIP-seq
MIRT2294062	hsa-miR-4728-5p	CLIP-seq
MIRT1227166	hsa-miR-4731-5p	CLIP-seq
MIRT1227167	hsa-miR-4736	CLIP-seq
MIRT1227168	hsa-miR-4738-3p	CLIP-seq
MIRT2294063	hsa-miR-4739	CLIP-seq
MIRT2294064	hsa-miR-4741	CLIP-seq
MIRT2294065	hsa-miR-4748	CLIP-seq
MIRT2294066	hsa-miR-4755-3p	CLIP-seq
MIRT2294067	hsa-miR-4756-5p	CLIP-seq
MIRT2294068	hsa-miR-4761-3p	CLIP-seq
MIRT2294069	hsa-miR-4762-5p	CLIP-seq
MIRT1227169	hsa-miR-4763-3p	CLIP-seq
MIRT2294070	hsa-miR-4771	CLIP-seq
MIRT2294071	hsa-miR-4773	CLIP-seq
MIRT2294072	hsa-miR-4780	CLIP-seq
MIRT2294073	hsa-miR-4782-5p	CLIP-seq
MIRT2294074	hsa-miR-4786-3p	CLIP-seq
MIRT2294075	hsa-miR-4792	CLIP-seq
MIRT1227171	hsa-miR-4793-5p	CLIP-seq
MIRT2294076	hsa-miR-4794	CLIP-seq
MIRT1227172	hsa-miR-484	CLIP-seq
MIRT2294077	hsa-miR-486-3p	CLIP-seq
MIRT2294078	hsa-miR-490-3p	CLIP-seq
MIRT1227174	hsa-miR-491-5p	CLIP-seq
MIRT2294079	hsa-miR-501-3p	CLIP-seq
MIRT2294080	hsa-miR-502-3p	CLIP-seq
MIRT2294081	hsa-miR-504	CLIP-seq
MIRT2294082	hsa-miR-512-5p	CLIP-seq
MIRT2294083	hsa-miR-516a-5p	CLIP-seq
MIRT2294084	hsa-miR-516b	CLIP-seq
MIRT2294085	hsa-miR-522	CLIP-seq
MIRT2294086	hsa-miR-541	CLIP-seq
MIRT2066566	hsa-miR-548c-3p	CLIP-seq
MIRT2294087	hsa-miR-548s	CLIP-seq
MIRT2294088	hsa-miR-561	CLIP-seq
MIRT2294089	hsa-miR-588	CLIP-seq
MIRT2294090	hsa-miR-603	CLIP-seq
MIRT2294091	hsa-miR-608	CLIP-seq
MIRT2294092	hsa-miR-612	CLIP-seq
MIRT2294093	hsa-miR-622	CLIP-seq
MIRT2294094	hsa-miR-623	CLIP-seq
MIRT2294095	hsa-miR-634	CLIP-seq
MIRT1227176	hsa-miR-642a	CLIP-seq
MIRT2294096	hsa-miR-642b	CLIP-seq
MIRT2294097	hsa-miR-644	CLIP-seq
MIRT2294098	hsa-miR-646	CLIP-seq
MIRT2294099	hsa-miR-647	CLIP-seq
MIRT2294100	hsa-miR-654-5p	CLIP-seq
MIRT2294101	hsa-miR-663	CLIP-seq
MIRT2294102	hsa-miR-665	CLIP-seq
MIRT2294103	hsa-miR-668	CLIP-seq
MIRT2294104	hsa-miR-761	CLIP-seq
MIRT2294105	hsa-miR-762	CLIP-seq
MIRT2294106	hsa-miR-769-3p	CLIP-seq
MIRT2294107	hsa-miR-873	CLIP-seq
MIRT2294108	hsa-miR-885-3p	CLIP-seq
MIRT1227178	hsa-miR-939	CLIP-seq
MIRT2294109	hsa-miR-98	CLIP-seq
MIRT1227143	hsa-miR-1324	CLIP-seq
MIRT2293956	hsa-miR-138	CLIP-seq
MIRT2293959	hsa-miR-1587	CLIP-seq
MIRT2392434	hsa-miR-15a	CLIP-seq
MIRT2392435	hsa-miR-15b	CLIP-seq
MIRT2392436	hsa-miR-16	CLIP-seq
MIRT2392437	hsa-miR-195	CLIP-seq
MIRT2293978	hsa-miR-3145-5p	CLIP-seq
MIRT2293987	hsa-miR-3616-3p	CLIP-seq
MIRT2392438	hsa-miR-424	CLIP-seq
MIRT2294011	hsa-miR-4299	CLIP-seq
MIRT2294015	hsa-miR-4417	CLIP-seq
MIRT2294029	hsa-miR-4492	CLIP-seq
MIRT2294030	hsa-miR-4498	CLIP-seq
MIRT2294042	hsa-miR-4651	CLIP-seq
MIRT2294044	hsa-miR-4656	CLIP-seq
MIRT2294045	hsa-miR-4661-3p	CLIP-seq
MIRT2294047	hsa-miR-4675	CLIP-seq
MIRT2294053	hsa-miR-4701-5p	CLIP-seq
MIRT2294055	hsa-miR-4710	CLIP-seq
MIRT2294058	hsa-miR-4721	CLIP-seq
MIRT2294064	hsa-miR-4741	CLIP-seq
MIRT2294075	hsa-miR-4792	CLIP-seq
MIRT2392439	hsa-miR-497	CLIP-seq
MIRT2294086	hsa-miR-541	CLIP-seq
MIRT2294089	hsa-miR-588	CLIP-seq
MIRT2294091	hsa-miR-608	CLIP-seq
MIRT2294097	hsa-miR-644	CLIP-seq
MIRT2392440	hsa-miR-648	CLIP-seq
MIRT2294100	hsa-miR-654-5p	CLIP-seq
MIRT2392441	hsa-miR-663b	CLIP-seq
MIRT2294105	hsa-miR-762	CLIP-seq
MIRT2293956	hsa-miR-138	CLIP-seq
MIRT2293987	hsa-miR-3616-3p	CLIP-seq
MIRT2294011	hsa-miR-4299	CLIP-seq
MIRT2294042	hsa-miR-4651	CLIP-seq
MIRT2294055	hsa-miR-4710	CLIP-seq
MIRT2294058	hsa-miR-4721	CLIP-seq
MIRT2294075	hsa-miR-4792	CLIP-seq
MIRT2294091	hsa-miR-608	CLIP-seq
MIRT2293941	hsa-miR-1226	CLIP-seq
MIRT2293947	hsa-miR-1285	CLIP-seq
MIRT2293953	hsa-miR-133a	CLIP-seq
MIRT2293954	hsa-miR-133b	CLIP-seq
MIRT2293956	hsa-miR-138	CLIP-seq
MIRT2293959	hsa-miR-1587	CLIP-seq
MIRT2592069	hsa-miR-205	CLIP-seq
MIRT2293970	hsa-miR-296-5p	CLIP-seq
MIRT2592070	hsa-miR-3133	CLIP-seq
MIRT2293978	hsa-miR-3145-5p	CLIP-seq
MIRT1227145	hsa-miR-3150a-3p	CLIP-seq
MIRT1227150	hsa-miR-3175	CLIP-seq
MIRT2293981	hsa-miR-3187-5p	CLIP-seq
MIRT2293986	hsa-miR-342-3p	CLIP-seq
MIRT2293987	hsa-miR-3616-3p	CLIP-seq
MIRT2293990	hsa-miR-3652	CLIP-seq
MIRT1227151	hsa-miR-3667-3p	CLIP-seq
MIRT2592071	hsa-miR-3691-3p	CLIP-seq
MIRT2293996	hsa-miR-378g	CLIP-seq
MIRT2293999	hsa-miR-3926	CLIP-seq
MIRT2294001	hsa-miR-3939	CLIP-seq
MIRT2294007	hsa-miR-4281	CLIP-seq
MIRT2294011	hsa-miR-4299	CLIP-seq
MIRT2294013	hsa-miR-4314	CLIP-seq
MIRT2294015	hsa-miR-4417	CLIP-seq
MIRT2294016	hsa-miR-4430	CLIP-seq
MIRT2294020	hsa-miR-4453	CLIP-seq
MIRT2294027	hsa-miR-4486	CLIP-seq
MIRT2294029	hsa-miR-4492	CLIP-seq
MIRT2294030	hsa-miR-4498	CLIP-seq
MIRT2294033	hsa-miR-4505	CLIP-seq
MIRT2294037	hsa-miR-4530	CLIP-seq
MIRT2294038	hsa-miR-4538	CLIP-seq
MIRT2294042	hsa-miR-4651	CLIP-seq
MIRT2294044	hsa-miR-4656	CLIP-seq
MIRT2294047	hsa-miR-4675	CLIP-seq
MIRT2294053	hsa-miR-4701-5p	CLIP-seq
MIRT2294055	hsa-miR-4710	CLIP-seq
MIRT2294057	hsa-miR-4717-3p	CLIP-seq
MIRT2294058	hsa-miR-4721	CLIP-seq
MIRT1227168	hsa-miR-4738-3p	CLIP-seq
MIRT2294064	hsa-miR-4741	CLIP-seq
MIRT2294075	hsa-miR-4792	CLIP-seq
MIRT2294086	hsa-miR-541	CLIP-seq
MIRT2294087	hsa-miR-548s	CLIP-seq
MIRT2294089	hsa-miR-588	CLIP-seq
MIRT2294091	hsa-miR-608	CLIP-seq
MIRT2294092	hsa-miR-612	CLIP-seq
MIRT2294095	hsa-miR-634	CLIP-seq
MIRT2294098	hsa-miR-646	CLIP-seq
MIRT2294099	hsa-miR-647	CLIP-seq
MIRT2294100	hsa-miR-654-5p	CLIP-seq
MIRT2294105	hsa-miR-762	CLIP-seq
MIRT1227178	hsa-miR-939	CLIP-seq
MIRT2293941	hsa-miR-1226	CLIP-seq
MIRT2293946	hsa-miR-127-5p	CLIP-seq
MIRT2293956	hsa-miR-138	CLIP-seq
MIRT2293985	hsa-miR-329	CLIP-seq
MIRT2293986	hsa-miR-342-3p	CLIP-seq
MIRT2293987	hsa-miR-3616-3p	CLIP-seq
MIRT2293989	hsa-miR-362-3p	CLIP-seq
MIRT2294001	hsa-miR-3939	CLIP-seq
MIRT2294011	hsa-miR-4299	CLIP-seq
MIRT2687724	hsa-miR-4640-3p	CLIP-seq
MIRT2294042	hsa-miR-4651	CLIP-seq
MIRT2294055	hsa-miR-4710	CLIP-seq
MIRT2294057	hsa-miR-4717-3p	CLIP-seq
MIRT2294058	hsa-miR-4721	CLIP-seq
MIRT2294074	hsa-miR-4786-3p	CLIP-seq
MIRT2294075	hsa-miR-4792	CLIP-seq
MIRT2294090	hsa-miR-603	CLIP-seq
MIRT2294091	hsa-miR-608	CLIP-seq
MIRT2294095	hsa-miR-634	CLIP-seq

Show/Hide all(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0006505	Process	GPI anchor metabolic process	IMP	17021251
GO:0006506	Process	GPI anchor biosynthetic process	IBA	21873635
GO:0006506	Process	GPI anchor biosynthetic process	IMP	29374258
GO:0016021	Component	Integral component of membrane	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IBA	21873635
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IMP	17021251
GO:0031227	Component	Intrinsic component of endoplasmic reticulum membrane	IBA	21873635
GO:0031227	Component	Intrinsic component of endoplasmic reticulum membrane	IDA	12460457

MIM	HGNC	e!Ensembl
611801	23719	ENSG00000161395

Protein

UniProt ID

Q96FM1

Protein name

GPI-specific phospholipase A2-like PGAP3 (EC 3.1.1.-) (COS16 homolog) (hCOS16) (Gene coamplified with ERBB2 protein) (PER1-like domain-containing protein 1) (Post-GPI attachment to proteins factor 3)

Protein function

Involved in the fatty acid remodeling steps of GPI-anchor maturation where the unsaturated acyl chain at sn-2 of inositol phosphate is replaced by a saturated stearoyl chain (PubMed:17021251, PubMed:24439110). May catalyze the first step of the

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04080	Per1	54 → 306	Per1-like family	Family

Sequence

MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLA
GWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLV
MLCRYRTFVPASSPMYHTCVAFAWVSLNAWFWSTVFHTRDTDLTEKMDYFCASTVILHSI
YLCCVRTVGLQHPAVVSAFRALLLLMLTVHVSYLSLIRFDYGYNLVANVAIGLVNVVWWL
AWCLWNQRRLPHVRKCVVVVLLLQGLSLLELLDFPPLFWVLDAHAIWHISTIPVHVLFFS
FLEDDSLYLLKESEDKFKLD

Sequence length

320

Interactions

View interactions

	KEGG
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways

Associated diseases

Show/Hide Causal Diseases (9)

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	20860503, 21804549
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591
Developmental delay	Global developmental delay, Profound 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
Hirschsprung disease	Hirschsprung Disease	rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hyperphosphatasia with mental retardation	Hyperphosphatasia with Mental Retardation, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, Hyperphosphatasia-intellectual disability syndrome	rs139073416, rs267606951, rs267606952, rs387907023, rs142164373, rs770591449, rs368953604, rs879255232, rs774843232, rs773359554, rs587776970, rs587777251, rs587777252, rs371549948, rs587777733, rs869025322, rs869025323, rs869312813, rs869312814, rs869312817, rs200598755, rs869312816, rs869312815, rs869312812, rs202146344, rs774508288, rs144574243, rs1064795758, rs375682284, rs755750516, rs1256773607, rs1555610292, rs1242562412, rs1567871748, rs1555610241, rs759988046, rs1563996824, rs1563998317, rs751086453, rs760848629, rs1391418639, rs776720232, rs1199247059, rs763591247, rs752346360, rs1587166550, rs1247927038, rs1587176440, rs763992668, rs1587178357, rs1587159769, rs1587167234, rs1587162510, rs1590215915, rs759541820, rs1590416370, rs1590414630, rs747658866, rs1657564568, rs149690056	24439110, 28390064, 27120253, 24439110, 30217754
Mental retardation	Severe intellectual disability, Moderate intellectual disability, 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
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Show/Hide Unknown Diseases (19)

Unknown
Disease name	Disease term	dbSNP ID	References
Accessory nipple	Accessory nipple
Bipolar disorder	Bipolar Disorder		27329760
Brachycephaly	Brachycephaly
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital epicanthus	Congenital Epicanthus
Congenital pectus excavatum	Congenital pectus excavatum
Drachtman weinblatt sitarz syndrome	Congenital neurologic anomalies		30217754
Dysmorphic features	Dysmorphic features		26077850, 28390064, 22265715, 17314402, 24439110
Esotropia	Esotropia
High palate	Byzanthine arch palate
Hydronephrosis	Hydronephrosis
Hyperopia	Hyperopia
Malocclusion	Class III malocclusion
Micrognathism	Micrognathism
Movement disorders	Movement Disorders		17314402, 26077850, 24439110, 28390064, 22265715
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Plagiocephaly	Plagiocephaly
Uranostaphyloschisis	Uranostaphyloschisis

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