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PSPH (phosphoserine phosphatase)

Gene

5723

Phosphoserine phosphatase

PSPH

PSP, PSPHD

7p11.2

The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved i

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs73343752	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs104894035	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894036	A>G	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs786204793	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

Show/Hide all(389)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023338	hsa-miR-122-5p	Proteomics	21750653
MIRT032012	hsa-miR-16-5p	Proteomics	18668040
MIRT038375	hsa-miR-296-3p	CLASH	23622248
MIRT654660	hsa-miR-3163	HITS-CLIP	23824327
MIRT654659	hsa-miR-4729	HITS-CLIP	23824327
MIRT654658	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT654657	hsa-miR-496	HITS-CLIP	23824327
MIRT654656	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT654655	hsa-miR-5696	HITS-CLIP	23824327
MIRT654654	hsa-miR-4444	HITS-CLIP	23824327
MIRT654660	hsa-miR-3163	HITS-CLIP	23824327
MIRT654659	hsa-miR-4729	HITS-CLIP	23824327
MIRT654658	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT654657	hsa-miR-496	HITS-CLIP	23824327
MIRT654656	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT654655	hsa-miR-5696	HITS-CLIP	23824327
MIRT654654	hsa-miR-4444	HITS-CLIP	23824327
MIRT1271103	hsa-miR-1243	CLIP-seq
MIRT1271104	hsa-miR-139-5p	CLIP-seq
MIRT1271105	hsa-miR-144	CLIP-seq
MIRT1271106	hsa-miR-1827	CLIP-seq
MIRT1271107	hsa-miR-1908	CLIP-seq
MIRT1271108	hsa-miR-200b	CLIP-seq
MIRT1271109	hsa-miR-200c	CLIP-seq
MIRT1271110	hsa-miR-2114	CLIP-seq
MIRT1271111	hsa-miR-297	CLIP-seq
MIRT1271112	hsa-miR-3122	CLIP-seq
MIRT1271113	hsa-miR-3136-3p	CLIP-seq
MIRT1271114	hsa-miR-3149	CLIP-seq
MIRT1271115	hsa-miR-3178	CLIP-seq
MIRT1271116	hsa-miR-3192	CLIP-seq
MIRT1271117	hsa-miR-3612	CLIP-seq
MIRT1271118	hsa-miR-3654	CLIP-seq
MIRT1271119	hsa-miR-3656	CLIP-seq
MIRT1271120	hsa-miR-3689a-3p	CLIP-seq
MIRT1271121	hsa-miR-3689c	CLIP-seq
MIRT1271122	hsa-miR-369-3p	CLIP-seq
MIRT1271123	hsa-miR-374a	CLIP-seq
MIRT1271124	hsa-miR-374b	CLIP-seq
MIRT1271125	hsa-miR-3913-5p	CLIP-seq
MIRT1271126	hsa-miR-3929	CLIP-seq
MIRT1271127	hsa-miR-3937	CLIP-seq
MIRT1271128	hsa-miR-3974	CLIP-seq
MIRT1271129	hsa-miR-4252	CLIP-seq
MIRT1271130	hsa-miR-429	CLIP-seq
MIRT1271131	hsa-miR-4327	CLIP-seq
MIRT1271132	hsa-miR-4419b	CLIP-seq
MIRT1271133	hsa-miR-4422	CLIP-seq
MIRT1271134	hsa-miR-4433	CLIP-seq
MIRT1271135	hsa-miR-4457	CLIP-seq
MIRT1271136	hsa-miR-4459	CLIP-seq
MIRT1271137	hsa-miR-4478	CLIP-seq
MIRT1271138	hsa-miR-4486	CLIP-seq
MIRT1271139	hsa-miR-4537	CLIP-seq
MIRT1271140	hsa-miR-4649-3p	CLIP-seq
MIRT1271141	hsa-miR-4683	CLIP-seq
MIRT1271142	hsa-miR-4722-5p	CLIP-seq
MIRT1271143	hsa-miR-4728-5p	CLIP-seq
MIRT1271144	hsa-miR-4768-3p	CLIP-seq
MIRT1271145	hsa-miR-4793-3p	CLIP-seq
MIRT1271146	hsa-miR-4793-5p	CLIP-seq
MIRT1271147	hsa-miR-4794	CLIP-seq
MIRT1271148	hsa-miR-485-5p	CLIP-seq
MIRT1271149	hsa-miR-490-3p	CLIP-seq
MIRT1271150	hsa-miR-508-5p	CLIP-seq
MIRT1271151	hsa-miR-513b	CLIP-seq
MIRT1271152	hsa-miR-550a	CLIP-seq
MIRT1271153	hsa-miR-582-5p	CLIP-seq
MIRT1271154	hsa-miR-624	CLIP-seq
MIRT1271155	hsa-miR-650	CLIP-seq
MIRT1271156	hsa-miR-663	CLIP-seq
MIRT1271157	hsa-miR-663b	CLIP-seq
MIRT1271158	hsa-miR-766	CLIP-seq
MIRT1271159	hsa-miR-940	CLIP-seq
MIRT1552664	hsa-miR-382	CLIP-seq
MIRT2079737	hsa-miR-1197	CLIP-seq
MIRT2079738	hsa-miR-1251	CLIP-seq
MIRT2079739	hsa-miR-1285	CLIP-seq
MIRT2079740	hsa-miR-1323	CLIP-seq
MIRT1271106	hsa-miR-1827	CLIP-seq
MIRT1271107	hsa-miR-1908	CLIP-seq
MIRT1271110	hsa-miR-2114	CLIP-seq
MIRT1271112	hsa-miR-3122	CLIP-seq
MIRT2079741	hsa-miR-3187-5p	CLIP-seq
MIRT1271116	hsa-miR-3192	CLIP-seq
MIRT1271117	hsa-miR-3612	CLIP-seq
MIRT1271119	hsa-miR-3656	CLIP-seq
MIRT1271120	hsa-miR-3689a-3p	CLIP-seq
MIRT1271121	hsa-miR-3689c	CLIP-seq
MIRT1552664	hsa-miR-382	CLIP-seq
MIRT1271125	hsa-miR-3913-5p	CLIP-seq
MIRT1271126	hsa-miR-3929	CLIP-seq
MIRT1271127	hsa-miR-3937	CLIP-seq
MIRT2079742	hsa-miR-3942-3p	CLIP-seq
MIRT1271128	hsa-miR-3974	CLIP-seq
MIRT1271129	hsa-miR-4252	CLIP-seq
MIRT1271131	hsa-miR-4327	CLIP-seq
MIRT1271132	hsa-miR-4419b	CLIP-seq
MIRT1271134	hsa-miR-4433	CLIP-seq
MIRT1271135	hsa-miR-4457	CLIP-seq
MIRT1271136	hsa-miR-4459	CLIP-seq
MIRT1271137	hsa-miR-4478	CLIP-seq
MIRT2079743	hsa-miR-451b	CLIP-seq
MIRT1271139	hsa-miR-4537	CLIP-seq
MIRT1271140	hsa-miR-4649-3p	CLIP-seq
MIRT1271141	hsa-miR-4683	CLIP-seq
MIRT2079744	hsa-miR-4719	CLIP-seq
MIRT1271142	hsa-miR-4722-5p	CLIP-seq
MIRT1271143	hsa-miR-4728-5p	CLIP-seq
MIRT1271144	hsa-miR-4768-3p	CLIP-seq
MIRT2079745	hsa-miR-4778-5p	CLIP-seq
MIRT1271145	hsa-miR-4793-3p	CLIP-seq
MIRT1271146	hsa-miR-4793-5p	CLIP-seq
MIRT1271148	hsa-miR-485-5p	CLIP-seq
MIRT1271149	hsa-miR-490-3p	CLIP-seq
MIRT1271150	hsa-miR-508-5p	CLIP-seq
MIRT1271151	hsa-miR-513b	CLIP-seq
MIRT2079746	hsa-miR-548o	CLIP-seq
MIRT1271152	hsa-miR-550a	CLIP-seq
MIRT2079747	hsa-miR-612	CLIP-seq
MIRT1271154	hsa-miR-624	CLIP-seq
MIRT1271155	hsa-miR-650	CLIP-seq
MIRT2079748	hsa-miR-661	CLIP-seq
MIRT1271156	hsa-miR-663	CLIP-seq
MIRT1271158	hsa-miR-766	CLIP-seq
MIRT1271159	hsa-miR-940	CLIP-seq
MIRT2306051	hsa-miR-1183	CLIP-seq
MIRT2079737	hsa-miR-1197	CLIP-seq
MIRT1271103	hsa-miR-1243	CLIP-seq
MIRT2079739	hsa-miR-1285	CLIP-seq
MIRT1271104	hsa-miR-139-5p	CLIP-seq
MIRT1271105	hsa-miR-144	CLIP-seq
MIRT1271106	hsa-miR-1827	CLIP-seq
MIRT1271108	hsa-miR-200b	CLIP-seq
MIRT1271109	hsa-miR-200c	CLIP-seq
MIRT2306052	hsa-miR-2054	CLIP-seq
MIRT1271111	hsa-miR-297	CLIP-seq
MIRT2306053	hsa-miR-3120-5p	CLIP-seq
MIRT1271112	hsa-miR-3122	CLIP-seq
MIRT1271114	hsa-miR-3149	CLIP-seq
MIRT2306054	hsa-miR-3159	CLIP-seq
MIRT2079741	hsa-miR-3187-5p	CLIP-seq
MIRT1271116	hsa-miR-3192	CLIP-seq
MIRT1271117	hsa-miR-3612	CLIP-seq
MIRT2306055	hsa-miR-3613-3p	CLIP-seq
MIRT1271118	hsa-miR-3654	CLIP-seq
MIRT1271120	hsa-miR-3689a-3p	CLIP-seq
MIRT1271121	hsa-miR-3689c	CLIP-seq
MIRT1271122	hsa-miR-369-3p	CLIP-seq
MIRT2306056	hsa-miR-371-5p	CLIP-seq
MIRT2306057	hsa-miR-371b-5p	CLIP-seq
MIRT1271123	hsa-miR-374a	CLIP-seq
MIRT1271124	hsa-miR-374b	CLIP-seq
MIRT1552664	hsa-miR-382	CLIP-seq
MIRT1271125	hsa-miR-3913-5p	CLIP-seq
MIRT1271126	hsa-miR-3929	CLIP-seq
MIRT1271127	hsa-miR-3937	CLIP-seq
MIRT1271128	hsa-miR-3974	CLIP-seq
MIRT1271129	hsa-miR-4252	CLIP-seq
MIRT1271130	hsa-miR-429	CLIP-seq
MIRT1271131	hsa-miR-4327	CLIP-seq
MIRT1271132	hsa-miR-4419b	CLIP-seq
MIRT2306058	hsa-miR-4420	CLIP-seq
MIRT1271133	hsa-miR-4422	CLIP-seq
MIRT1271134	hsa-miR-4433	CLIP-seq
MIRT1271135	hsa-miR-4457	CLIP-seq
MIRT1271136	hsa-miR-4459	CLIP-seq
MIRT1271137	hsa-miR-4478	CLIP-seq
MIRT2306059	hsa-miR-4493	CLIP-seq
MIRT2079743	hsa-miR-451b	CLIP-seq
MIRT2306060	hsa-miR-4522	CLIP-seq
MIRT1271139	hsa-miR-4537	CLIP-seq
MIRT1271140	hsa-miR-4649-3p	CLIP-seq
MIRT1271141	hsa-miR-4683	CLIP-seq
MIRT2306061	hsa-miR-4703-3p	CLIP-seq
MIRT1271142	hsa-miR-4722-5p	CLIP-seq
MIRT1271143	hsa-miR-4728-5p	CLIP-seq
MIRT1271144	hsa-miR-4768-3p	CLIP-seq
MIRT2079745	hsa-miR-4778-5p	CLIP-seq
MIRT1271145	hsa-miR-4793-3p	CLIP-seq
MIRT1271146	hsa-miR-4793-5p	CLIP-seq
MIRT1271148	hsa-miR-485-5p	CLIP-seq
MIRT1271149	hsa-miR-490-3p	CLIP-seq
MIRT1271150	hsa-miR-508-5p	CLIP-seq
MIRT1271151	hsa-miR-513b	CLIP-seq
MIRT2306062	hsa-miR-548a-5p	CLIP-seq
MIRT2306063	hsa-miR-548ab	CLIP-seq
MIRT2306064	hsa-miR-548ak	CLIP-seq
MIRT2306065	hsa-miR-548b-5p	CLIP-seq
MIRT2306066	hsa-miR-548c-5p	CLIP-seq
MIRT2306067	hsa-miR-548d-5p	CLIP-seq
MIRT2306068	hsa-miR-548h	CLIP-seq
MIRT2306069	hsa-miR-548i	CLIP-seq
MIRT2306070	hsa-miR-548j	CLIP-seq
MIRT2306071	hsa-miR-548k	CLIP-seq
MIRT2306072	hsa-miR-548l	CLIP-seq
MIRT2306073	hsa-miR-548w	CLIP-seq
MIRT2306074	hsa-miR-548y	CLIP-seq
MIRT2306075	hsa-miR-559	CLIP-seq
MIRT2306076	hsa-miR-579	CLIP-seq
MIRT2079747	hsa-miR-612	CLIP-seq
MIRT1271154	hsa-miR-624	CLIP-seq
MIRT2306077	hsa-miR-647	CLIP-seq
MIRT1271155	hsa-miR-650	CLIP-seq
MIRT2079748	hsa-miR-661	CLIP-seq
MIRT1271158	hsa-miR-766	CLIP-seq
MIRT1271159	hsa-miR-940	CLIP-seq
MIRT1271106	hsa-miR-1827	CLIP-seq
MIRT1271116	hsa-miR-3192	CLIP-seq
MIRT1271120	hsa-miR-3689a-3p	CLIP-seq
MIRT1271121	hsa-miR-3689c	CLIP-seq
MIRT1271126	hsa-miR-3929	CLIP-seq
MIRT1271132	hsa-miR-4419b	CLIP-seq
MIRT1271137	hsa-miR-4478	CLIP-seq
MIRT1271140	hsa-miR-4649-3p	CLIP-seq
MIRT1271142	hsa-miR-4722-5p	CLIP-seq
MIRT1271143	hsa-miR-4728-5p	CLIP-seq
MIRT1271144	hsa-miR-4768-3p	CLIP-seq
MIRT1271148	hsa-miR-485-5p	CLIP-seq
MIRT1271149	hsa-miR-490-3p	CLIP-seq
MIRT1271159	hsa-miR-940	CLIP-seq
MIRT1552664	hsa-miR-382	CLIP-seq
MIRT2439625	hsa-miR-4633-3p	CLIP-seq
MIRT2439626	hsa-miR-4670-3p	CLIP-seq
MIRT2439627	hsa-miR-4760-3p	CLIP-seq
MIRT1552664	hsa-miR-382	CLIP-seq
MIRT2439625	hsa-miR-4633-3p	CLIP-seq
MIRT2439626	hsa-miR-4670-3p	CLIP-seq
MIRT2439627	hsa-miR-4760-3p	CLIP-seq
MIRT1271106	hsa-miR-1827	CLIP-seq
MIRT1271107	hsa-miR-1908	CLIP-seq
MIRT1271112	hsa-miR-3122	CLIP-seq
MIRT2306055	hsa-miR-3613-3p	CLIP-seq
MIRT1271120	hsa-miR-3689a-3p	CLIP-seq
MIRT1271121	hsa-miR-3689c	CLIP-seq
MIRT1271125	hsa-miR-3913-5p	CLIP-seq
MIRT1271126	hsa-miR-3929	CLIP-seq
MIRT1271127	hsa-miR-3937	CLIP-seq
MIRT1271132	hsa-miR-4419b	CLIP-seq
MIRT1271135	hsa-miR-4457	CLIP-seq
MIRT1271137	hsa-miR-4478	CLIP-seq
MIRT1271140	hsa-miR-4649-3p	CLIP-seq
MIRT2457365	hsa-miR-4684-5p	CLIP-seq
MIRT1271143	hsa-miR-4728-5p	CLIP-seq
MIRT2457366	hsa-miR-4764-5p	CLIP-seq
MIRT1271144	hsa-miR-4768-3p	CLIP-seq
MIRT1271148	hsa-miR-485-5p	CLIP-seq
MIRT1271151	hsa-miR-513b	CLIP-seq
MIRT2457367	hsa-miR-548c-3p	CLIP-seq
MIRT1271156	hsa-miR-663	CLIP-seq
MIRT1271159	hsa-miR-940	CLIP-seq
MIRT1271106	hsa-miR-1827	CLIP-seq
MIRT1271110	hsa-miR-2114	CLIP-seq
MIRT1271112	hsa-miR-3122	CLIP-seq
MIRT1271116	hsa-miR-3192	CLIP-seq
MIRT1271117	hsa-miR-3612	CLIP-seq
MIRT1271120	hsa-miR-3689a-3p	CLIP-seq
MIRT1271121	hsa-miR-3689c	CLIP-seq
MIRT1271125	hsa-miR-3913-5p	CLIP-seq
MIRT1271126	hsa-miR-3929	CLIP-seq
MIRT1271127	hsa-miR-3937	CLIP-seq
MIRT1271132	hsa-miR-4419b	CLIP-seq
MIRT1271137	hsa-miR-4478	CLIP-seq
MIRT1271140	hsa-miR-4649-3p	CLIP-seq
MIRT1271142	hsa-miR-4722-5p	CLIP-seq
MIRT1271143	hsa-miR-4728-5p	CLIP-seq
MIRT1271144	hsa-miR-4768-3p	CLIP-seq
MIRT1271148	hsa-miR-485-5p	CLIP-seq
MIRT1271149	hsa-miR-490-3p	CLIP-seq
MIRT1271152	hsa-miR-550a	CLIP-seq
MIRT1271155	hsa-miR-650	CLIP-seq
MIRT1271159	hsa-miR-940	CLIP-seq
MIRT2079739	hsa-miR-1285	CLIP-seq
MIRT1271106	hsa-miR-1827	CLIP-seq
MIRT1271107	hsa-miR-1908	CLIP-seq
MIRT1271110	hsa-miR-2114	CLIP-seq
MIRT2306053	hsa-miR-3120-5p	CLIP-seq
MIRT1271112	hsa-miR-3122	CLIP-seq
MIRT2079741	hsa-miR-3187-5p	CLIP-seq
MIRT1271116	hsa-miR-3192	CLIP-seq
MIRT1271117	hsa-miR-3612	CLIP-seq
MIRT2306055	hsa-miR-3613-3p	CLIP-seq
MIRT1271119	hsa-miR-3656	CLIP-seq
MIRT1271120	hsa-miR-3689a-3p	CLIP-seq
MIRT1271121	hsa-miR-3689c	CLIP-seq
MIRT2306056	hsa-miR-371-5p	CLIP-seq
MIRT2306057	hsa-miR-371b-5p	CLIP-seq
MIRT1271125	hsa-miR-3913-5p	CLIP-seq
MIRT1271126	hsa-miR-3929	CLIP-seq
MIRT1271127	hsa-miR-3937	CLIP-seq
MIRT1271128	hsa-miR-3974	CLIP-seq
MIRT1271129	hsa-miR-4252	CLIP-seq
MIRT2603347	hsa-miR-4263	CLIP-seq
MIRT2603348	hsa-miR-4311	CLIP-seq
MIRT1271131	hsa-miR-4327	CLIP-seq
MIRT1271132	hsa-miR-4419b	CLIP-seq
MIRT2306058	hsa-miR-4420	CLIP-seq
MIRT1271133	hsa-miR-4422	CLIP-seq
MIRT1271134	hsa-miR-4433	CLIP-seq
MIRT1271135	hsa-miR-4457	CLIP-seq
MIRT1271136	hsa-miR-4459	CLIP-seq
MIRT1271137	hsa-miR-4478	CLIP-seq
MIRT2306059	hsa-miR-4493	CLIP-seq
MIRT2079743	hsa-miR-451b	CLIP-seq
MIRT2306060	hsa-miR-4522	CLIP-seq
MIRT1271139	hsa-miR-4537	CLIP-seq
MIRT1271140	hsa-miR-4649-3p	CLIP-seq
MIRT1271141	hsa-miR-4683	CLIP-seq
MIRT2457365	hsa-miR-4684-5p	CLIP-seq
MIRT1271142	hsa-miR-4722-5p	CLIP-seq
MIRT1271143	hsa-miR-4728-5p	CLIP-seq
MIRT2457366	hsa-miR-4764-5p	CLIP-seq
MIRT1271144	hsa-miR-4768-3p	CLIP-seq
MIRT2079745	hsa-miR-4778-5p	CLIP-seq
MIRT1271145	hsa-miR-4793-3p	CLIP-seq
MIRT1271148	hsa-miR-485-5p	CLIP-seq
MIRT2603349	hsa-miR-489	CLIP-seq
MIRT1271149	hsa-miR-490-3p	CLIP-seq
MIRT1271150	hsa-miR-508-5p	CLIP-seq
MIRT1271151	hsa-miR-513b	CLIP-seq
MIRT2457367	hsa-miR-548c-3p	CLIP-seq
MIRT2603350	hsa-miR-548m	CLIP-seq
MIRT1271152	hsa-miR-550a	CLIP-seq
MIRT2603351	hsa-miR-576-5p	CLIP-seq
MIRT2079747	hsa-miR-612	CLIP-seq
MIRT1271154	hsa-miR-624	CLIP-seq
MIRT1271155	hsa-miR-650	CLIP-seq
MIRT2079748	hsa-miR-661	CLIP-seq
MIRT1271156	hsa-miR-663	CLIP-seq
MIRT1271158	hsa-miR-766	CLIP-seq
MIRT1271159	hsa-miR-940	CLIP-seq
MIRT2079739	hsa-miR-1285	CLIP-seq
MIRT1271106	hsa-miR-1827	CLIP-seq
MIRT1271107	hsa-miR-1908	CLIP-seq
MIRT1271110	hsa-miR-2114	CLIP-seq
MIRT2306053	hsa-miR-3120-5p	CLIP-seq
MIRT1271112	hsa-miR-3122	CLIP-seq
MIRT2079741	hsa-miR-3187-5p	CLIP-seq
MIRT1271116	hsa-miR-3192	CLIP-seq
MIRT1271117	hsa-miR-3612	CLIP-seq
MIRT2306055	hsa-miR-3613-3p	CLIP-seq
MIRT1271119	hsa-miR-3656	CLIP-seq
MIRT1271120	hsa-miR-3689a-3p	CLIP-seq
MIRT1271121	hsa-miR-3689c	CLIP-seq
MIRT2306056	hsa-miR-371-5p	CLIP-seq
MIRT2306057	hsa-miR-371b-5p	CLIP-seq
MIRT1271125	hsa-miR-3913-5p	CLIP-seq
MIRT1271126	hsa-miR-3929	CLIP-seq
MIRT1271127	hsa-miR-3937	CLIP-seq
MIRT1271128	hsa-miR-3974	CLIP-seq
MIRT1271129	hsa-miR-4252	CLIP-seq
MIRT2603347	hsa-miR-4263	CLIP-seq
MIRT2603348	hsa-miR-4311	CLIP-seq
MIRT1271131	hsa-miR-4327	CLIP-seq
MIRT1271132	hsa-miR-4419b	CLIP-seq
MIRT2306058	hsa-miR-4420	CLIP-seq
MIRT1271133	hsa-miR-4422	CLIP-seq
MIRT1271134	hsa-miR-4433	CLIP-seq
MIRT1271135	hsa-miR-4457	CLIP-seq
MIRT1271136	hsa-miR-4459	CLIP-seq
MIRT1271137	hsa-miR-4478	CLIP-seq
MIRT2306059	hsa-miR-4493	CLIP-seq
MIRT2079743	hsa-miR-451b	CLIP-seq
MIRT2306060	hsa-miR-4522	CLIP-seq
MIRT1271140	hsa-miR-4649-3p	CLIP-seq
MIRT1271141	hsa-miR-4683	CLIP-seq
MIRT2457365	hsa-miR-4684-5p	CLIP-seq
MIRT1271142	hsa-miR-4722-5p	CLIP-seq
MIRT1271143	hsa-miR-4728-5p	CLIP-seq
MIRT2457366	hsa-miR-4764-5p	CLIP-seq
MIRT1271144	hsa-miR-4768-3p	CLIP-seq
MIRT2079745	hsa-miR-4778-5p	CLIP-seq
MIRT1271145	hsa-miR-4793-3p	CLIP-seq
MIRT1271148	hsa-miR-485-5p	CLIP-seq
MIRT2603349	hsa-miR-489	CLIP-seq
MIRT1271149	hsa-miR-490-3p	CLIP-seq
MIRT1271150	hsa-miR-508-5p	CLIP-seq
MIRT1271151	hsa-miR-513b	CLIP-seq
MIRT2457367	hsa-miR-548c-3p	CLIP-seq
MIRT2603350	hsa-miR-548m	CLIP-seq
MIRT1271152	hsa-miR-550a	CLIP-seq
MIRT2603351	hsa-miR-576-5p	CLIP-seq
MIRT2079747	hsa-miR-612	CLIP-seq
MIRT1271154	hsa-miR-624	CLIP-seq
MIRT1271155	hsa-miR-650	CLIP-seq
MIRT2079748	hsa-miR-661	CLIP-seq
MIRT1271156	hsa-miR-663	CLIP-seq
MIRT1271158	hsa-miR-766	CLIP-seq
MIRT1271159	hsa-miR-940	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IBA	21873635
GO:0000287	Function	Magnesium ion binding	IDA	15291819
GO:0001701	Process	In utero embryonic development	IEA
GO:0004647	Function	Phosphoserine phosphatase activity	IBA	21873635
GO:0004647	Function	Phosphoserine phosphatase activity	IDA	14673469, 15291819
GO:0005509	Function	Calcium ion binding	IDA	12777757, 15291819
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006563	Process	L-serine metabolic process	IDA	15291819
GO:0006564	Process	L-serine biosynthetic process	IBA	21873635
GO:0006564	Process	L-serine biosynthetic process	TAS
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0016311	Process	Dephosphorylation	IBA	21873635
GO:0031667	Process	Response to nutrient levels	IEA
GO:0033574	Process	Response to testosterone	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 25502805, 31515488
GO:0042803	Function	Protein homodimerization activity	IPI	12777757
GO:0043005	Component	Neuron projection	IEA

MIM	HGNC	e!Ensembl
172480	9577	ENSG00000146733

Protein

UniProt ID

P78330

Protein name

Phosphoserine phosphatase (PSP) (PSPase) (EC 3.1.3.3) (L-3-phosphoserine phosphatase) (O-phosphoserine phosphohydrolase)

Protein function

Catalyzes the last irreversible step in the biosynthesis of L-serine from carbohydrates, the dephosphorylation of O-phospho-L-serine to L-serine (PubMed:12213811, PubMed:14673469, PubMed:15291819, PubMed:25080166, PubMed:9222972). L-serine can t

PDB

1L8L , 1L8O , 1NNL , 6HYJ , 6HYY , 6Q6J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00702	Hydrolase	14 → 191		Domain

Sequence

MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKA
ALTERLALIQPSREQVQRLIAEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVA
SKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKVIKLLKEKFHFKKIIMIGDG
ATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE

Sequence length

225

Interactions

View interactions

	KEGG		Reactome
	Glycine, serine and threonine metabolism Metabolic pathways Carbon metabolism Biosynthesis of amino acids		Serine biosynthesis

Associated diseases

Show/Hide Causal Diseases (6)

Causal
Disease name	Disease term	dbSNP ID	References
Deficiency of phosphoserine phosphatase	Deficiency of phosphoserine phosphatase	rs104894036, rs786204793	25152457, 24816252, 14673469
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Neu-laxova syndrome	NEU-LAXOVA SYNDROME 1	rs587777747, rs118203967, rs121907987, rs267606948, rs587777774, rs587777776, rs587777777, rs587777778, rs886041874, rs1057517807, rs769256568, rs1564012541, rs1008314756, rs1571013274, rs1224279673	25152457
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 (8)

Unknown
Disease name	Disease term	dbSNP ID	References
3-phosphoserine phosphatase deficiency	3-phosphoserine phosphatase deficiency, infantile/juvenile form
Disorder of amino acid metabolism	Amino Acid Metabolism, Inborn Errors		14673469
Eosinophilia	Esophagitis
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Hypospadias	Hypospadias
Inherited errors of amino acid metabolism	Amino Acid Metabolism, Inherited Disorders		14673469
Macrostomia	Macrostomia
Micrognathism	Micrognathism

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