B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2)

Gene

• Entrez ID: 148789
• Gene name: Beta-1,3-N-acetylgalactosaminyltransferase 2
• Gene symbol: B3GALNT2
• Synonyms (NCBI Gene): B3GalNAc-T2, MDDGA11
• Disease Acronyms (UniProt): MDDGA11
• Chromosome: 1
• Chromosome location: 1q42.3
• Summary: This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142756842	C>T	Likely-pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs201345883	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs201822310	C>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs367543069	->AGCCGCAGCCAGAGGTGCAGCGC	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs367543070	CA>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, frameshift variant
rs367543072	C>T	Not-provided, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs367543073	A>C	Not-provided, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs367543075	->AA	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs367543076	C>G,T	Not-provided, pathogenic-likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs753340395	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs757347274	C>T	Likely-pathogenic	Splice donor variant
rs764784497	C>G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs780433836	C>A,T	Pathogenic	Splice acceptor variant, intron variant
rs1045409136	C>T	Likely-pathogenic	Splice acceptor variant
rs1064793673	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs1282726649	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1553342786	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs1553347936	T>C	Likely-pathogenic	Splice acceptor variant
rs1558407945	C>T	Likely-pathogenic	Downstream transcript variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1572513308	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT705299	hsa-miR-4537	HITS-CLIP	23313552
MIRT705298	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT488482	hsa-miR-6852-5p	PAR-CLIP	23592263
MIRT488481	hsa-miR-4667-5p	PAR-CLIP	23592263
MIRT488480	hsa-miR-4700-5p	PAR-CLIP	23592263
MIRT488478	hsa-miR-8089	PAR-CLIP	23592263
MIRT488479	hsa-miR-6077	PAR-CLIP	23592263
MIRT488477	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT488476	hsa-miR-4271	PAR-CLIP	23592263
MIRT488475	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT488474	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT488473	hsa-miR-3144-5p	PAR-CLIP	23592263
MIRT488472	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT488471	hsa-miR-4652-5p	PAR-CLIP	23592263
MIRT488470	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT488469	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488468	hsa-miR-5698	PAR-CLIP	23592263
MIRT488467	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488465	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488466	hsa-miR-4525	PAR-CLIP	23592263
MIRT488464	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT488463	hsa-miR-4651	PAR-CLIP	23592263
MIRT488462	hsa-miR-608	PAR-CLIP	23592263
MIRT488461	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT488460	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT488459	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT488458	hsa-miR-4447	PAR-CLIP	23592263
MIRT488457	hsa-miR-4472	PAR-CLIP	23592263
MIRT488456	hsa-miR-6810-5p	PAR-CLIP	23592263
MIRT488455	hsa-miR-1275	PAR-CLIP	23592263
MIRT488454	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT488452	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT481104	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT481103	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT481102	hsa-miR-940	PAR-CLIP	23592263
MIRT481101	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT481100	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT481099	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT481098	hsa-miR-219a-2-3p	PAR-CLIP	23592263
MIRT481097	hsa-miR-1827	PAR-CLIP	23592263
MIRT481096	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT705299	hsa-miR-4537	HITS-CLIP	23313552
MIRT705298	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT488482	hsa-miR-6852-5p	PAR-CLIP	23592263
MIRT488481	hsa-miR-4667-5p	PAR-CLIP	23592263
MIRT488480	hsa-miR-4700-5p	PAR-CLIP	23592263
MIRT488478	hsa-miR-8089	PAR-CLIP	23592263
MIRT488479	hsa-miR-6077	PAR-CLIP	23592263
MIRT488477	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT488476	hsa-miR-4271	PAR-CLIP	23592263
MIRT488475	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT488474	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT488473	hsa-miR-3144-5p	PAR-CLIP	23592263
MIRT488472	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT488471	hsa-miR-4652-5p	PAR-CLIP	23592263
MIRT488470	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT488469	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488468	hsa-miR-5698	PAR-CLIP	23592263
MIRT488467	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488465	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488466	hsa-miR-4525	PAR-CLIP	23592263
MIRT488464	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT488463	hsa-miR-4651	PAR-CLIP	23592263
MIRT488462	hsa-miR-608	PAR-CLIP	23592263
MIRT488461	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT488460	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT488459	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT488458	hsa-miR-4447	PAR-CLIP	23592263
MIRT488457	hsa-miR-4472	PAR-CLIP	23592263
MIRT488456	hsa-miR-6810-5p	PAR-CLIP	23592263
MIRT488455	hsa-miR-1275	PAR-CLIP	23592263
MIRT488454	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT488452	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT481104	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT481103	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT481102	hsa-miR-940	PAR-CLIP	23592263
MIRT481101	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT481100	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT481099	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT481098	hsa-miR-219a-2-3p	PAR-CLIP	23592263
MIRT481097	hsa-miR-1827	PAR-CLIP	23592263
MIRT481096	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT812830	hsa-miR-106a	CLIP-seq
MIRT812831	hsa-miR-106b	CLIP-seq
MIRT812832	hsa-miR-1225-5p	CLIP-seq
MIRT812833	hsa-miR-1273	CLIP-seq
MIRT812834	hsa-miR-17	CLIP-seq
MIRT812835	hsa-miR-2054	CLIP-seq
MIRT812836	hsa-miR-20a	CLIP-seq
MIRT812837	hsa-miR-20b	CLIP-seq
MIRT812838	hsa-miR-25	CLIP-seq
MIRT812839	hsa-miR-297	CLIP-seq
MIRT812840	hsa-miR-3120-5p	CLIP-seq
MIRT812841	hsa-miR-3140-3p	CLIP-seq
MIRT812842	hsa-miR-3144-3p	CLIP-seq
MIRT812843	hsa-miR-3145-3p	CLIP-seq
MIRT812844	hsa-miR-3155	CLIP-seq
MIRT812845	hsa-miR-3155b	CLIP-seq
MIRT812846	hsa-miR-3162-3p	CLIP-seq
MIRT812847	hsa-miR-3164	CLIP-seq
MIRT812848	hsa-miR-32	CLIP-seq
MIRT812849	hsa-miR-320e	CLIP-seq
MIRT812850	hsa-miR-34b	CLIP-seq
MIRT812851	hsa-miR-3591-3p	CLIP-seq
MIRT812852	hsa-miR-3609	CLIP-seq
MIRT812853	hsa-miR-3614-5p	CLIP-seq
MIRT812854	hsa-miR-363	CLIP-seq
MIRT812855	hsa-miR-3646	CLIP-seq
MIRT812856	hsa-miR-3662	CLIP-seq
MIRT812857	hsa-miR-367	CLIP-seq
MIRT812858	hsa-miR-3674	CLIP-seq
MIRT812859	hsa-miR-3679-3p	CLIP-seq
MIRT812860	hsa-miR-3689a-5p	CLIP-seq
MIRT812861	hsa-miR-3689b	CLIP-seq
MIRT812862	hsa-miR-3689e	CLIP-seq
MIRT812863	hsa-miR-3689f	CLIP-seq
MIRT812864	hsa-miR-374c	CLIP-seq
MIRT812865	hsa-miR-378g	CLIP-seq
MIRT812866	hsa-miR-3914	CLIP-seq
MIRT812867	hsa-miR-3926	CLIP-seq
MIRT812868	hsa-miR-4260	CLIP-seq
MIRT812869	hsa-miR-4264	CLIP-seq
MIRT812870	hsa-miR-4307	CLIP-seq
MIRT812871	hsa-miR-4325	CLIP-seq
MIRT812872	hsa-miR-4432	CLIP-seq
MIRT812873	hsa-miR-4437	CLIP-seq
MIRT812874	hsa-miR-4446-5p	CLIP-seq
MIRT812875	hsa-miR-4480	CLIP-seq
MIRT812876	hsa-miR-4539	CLIP-seq
MIRT812877	hsa-miR-4674	CLIP-seq
MIRT812878	hsa-miR-4679	CLIP-seq
MIRT812879	hsa-miR-4684-5p	CLIP-seq
MIRT812880	hsa-miR-4717-3p	CLIP-seq
MIRT812881	hsa-miR-4717-5p	CLIP-seq
MIRT812882	hsa-miR-4738-3p	CLIP-seq
MIRT812883	hsa-miR-4755-3p	CLIP-seq
MIRT812884	hsa-miR-4755-5p	CLIP-seq
MIRT812885	hsa-miR-4762-3p	CLIP-seq
MIRT812886	hsa-miR-4796-3p	CLIP-seq
MIRT812887	hsa-miR-4797-3p	CLIP-seq
MIRT812888	hsa-miR-484	CLIP-seq
MIRT812889	hsa-miR-496	CLIP-seq
MIRT812890	hsa-miR-499-5p	CLIP-seq
MIRT812891	hsa-miR-508-5p	CLIP-seq
MIRT812892	hsa-miR-510	CLIP-seq
MIRT812893	hsa-miR-519d	CLIP-seq
MIRT812894	hsa-miR-548ah	CLIP-seq
MIRT812895	hsa-miR-548s	CLIP-seq
MIRT812896	hsa-miR-552	CLIP-seq
MIRT812897	hsa-miR-555	CLIP-seq
MIRT812898	hsa-miR-567	CLIP-seq
MIRT812899	hsa-miR-581	CLIP-seq
MIRT812900	hsa-miR-582-5p	CLIP-seq
MIRT812901	hsa-miR-606	CLIP-seq
MIRT812902	hsa-miR-655	CLIP-seq
MIRT812903	hsa-miR-661	CLIP-seq
MIRT812904	hsa-miR-766	CLIP-seq
MIRT812905	hsa-miR-875-5p	CLIP-seq
MIRT812906	hsa-miR-890	CLIP-seq
MIRT812907	hsa-miR-92a	CLIP-seq
MIRT812908	hsa-miR-92b	CLIP-seq
MIRT812909	hsa-miR-93	CLIP-seq
MIRT812910	hsa-miR-942	CLIP-seq
MIRT812839	hsa-miR-297	CLIP-seq
MIRT812853	hsa-miR-3614-5p	CLIP-seq
MIRT812870	hsa-miR-4307	CLIP-seq
MIRT812898	hsa-miR-567	CLIP-seq
MIRT812899	hsa-miR-581	CLIP-seq
MIRT1940308	hsa-miR-101	CLIP-seq
MIRT1940309	hsa-miR-125a-5p	CLIP-seq
MIRT1940310	hsa-miR-125b	CLIP-seq
MIRT1940311	hsa-miR-1323	CLIP-seq
MIRT1940312	hsa-miR-144	CLIP-seq
MIRT1940313	hsa-miR-193a-5p	CLIP-seq
MIRT1940314	hsa-miR-202	CLIP-seq
MIRT1940315	hsa-miR-203	CLIP-seq
MIRT1940316	hsa-miR-221	CLIP-seq
MIRT1940317	hsa-miR-222	CLIP-seq
MIRT1940318	hsa-miR-2355-3p	CLIP-seq
MIRT1940319	hsa-miR-299-5p	CLIP-seq
MIRT812841	hsa-miR-3140-3p	CLIP-seq
MIRT1940320	hsa-miR-323b-3p	CLIP-seq
MIRT812860	hsa-miR-3689a-5p	CLIP-seq
MIRT812861	hsa-miR-3689b	CLIP-seq
MIRT812862	hsa-miR-3689e	CLIP-seq
MIRT812863	hsa-miR-3689f	CLIP-seq
MIRT1940321	hsa-miR-377	CLIP-seq
MIRT1940322	hsa-miR-4282	CLIP-seq
MIRT1940323	hsa-miR-4319	CLIP-seq
MIRT1940324	hsa-miR-4324	CLIP-seq
MIRT812871	hsa-miR-4325	CLIP-seq
MIRT1940325	hsa-miR-4420	CLIP-seq
MIRT1940326	hsa-miR-4678	CLIP-seq
MIRT1940327	hsa-miR-4695-5p	CLIP-seq
MIRT1940328	hsa-miR-548aa	CLIP-seq
MIRT1940329	hsa-miR-548ac	CLIP-seq
MIRT1940330	hsa-miR-548ae	CLIP-seq
MIRT1940331	hsa-miR-548aj	CLIP-seq
MIRT1940332	hsa-miR-548am	CLIP-seq
MIRT1940333	hsa-miR-548d-3p	CLIP-seq
MIRT1940334	hsa-miR-548o	CLIP-seq
MIRT1940335	hsa-miR-548x	CLIP-seq
MIRT1940336	hsa-miR-548z	CLIP-seq
MIRT1940337	hsa-miR-577	CLIP-seq
MIRT1940338	hsa-miR-591	CLIP-seq
MIRT1940339	hsa-miR-629	CLIP-seq
MIRT1940340	hsa-miR-658	CLIP-seq
MIRT1940341	hsa-miR-664	CLIP-seq
MIRT1940342	hsa-miR-676	CLIP-seq
MIRT812904	hsa-miR-766	CLIP-seq
MIRT812832	hsa-miR-1225-5p	CLIP-seq
MIRT2179227	hsa-miR-1226	CLIP-seq
MIRT1940309	hsa-miR-125a-5p	CLIP-seq
MIRT1940310	hsa-miR-125b	CLIP-seq
MIRT2179228	hsa-miR-140-3p	CLIP-seq
MIRT1940314	hsa-miR-202	CLIP-seq
MIRT2179229	hsa-miR-224	CLIP-seq
MIRT812840	hsa-miR-3120-5p	CLIP-seq
MIRT2179230	hsa-miR-3180-5p	CLIP-seq
MIRT2179231	hsa-miR-342-3p	CLIP-seq
MIRT2179232	hsa-miR-3613-3p	CLIP-seq
MIRT2179233	hsa-miR-3680	CLIP-seq
MIRT812860	hsa-miR-3689a-5p	CLIP-seq
MIRT812861	hsa-miR-3689b	CLIP-seq
MIRT812862	hsa-miR-3689e	CLIP-seq
MIRT812863	hsa-miR-3689f	CLIP-seq
MIRT2179234	hsa-miR-371-5p	CLIP-seq
MIRT2179235	hsa-miR-371b-5p	CLIP-seq
MIRT1940321	hsa-miR-377	CLIP-seq
MIRT2179236	hsa-miR-3978	CLIP-seq
MIRT812869	hsa-miR-4264	CLIP-seq
MIRT1940323	hsa-miR-4319	CLIP-seq
MIRT1940324	hsa-miR-4324	CLIP-seq
MIRT812871	hsa-miR-4325	CLIP-seq
MIRT2179237	hsa-miR-4455	CLIP-seq
MIRT1940326	hsa-miR-4678	CLIP-seq
MIRT812879	hsa-miR-4684-5p	CLIP-seq
MIRT2179238	hsa-miR-4699-3p	CLIP-seq
MIRT812887	hsa-miR-4797-3p	CLIP-seq
MIRT2179239	hsa-miR-4798-3p	CLIP-seq
MIRT2179240	hsa-miR-485-3p	CLIP-seq
MIRT812892	hsa-miR-510	CLIP-seq
MIRT2179241	hsa-miR-520a-5p	CLIP-seq
MIRT2179242	hsa-miR-525-5p	CLIP-seq
MIRT1940328	hsa-miR-548aa	CLIP-seq
MIRT2179243	hsa-miR-548c-3p	CLIP-seq
MIRT2179244	hsa-miR-609	CLIP-seq
MIRT2179245	hsa-miR-622	CLIP-seq
MIRT1940340	hsa-miR-658	CLIP-seq
MIRT1940341	hsa-miR-664	CLIP-seq
MIRT2179246	hsa-miR-9	CLIP-seq
MIRT812867	hsa-miR-3926	CLIP-seq
MIRT812879	hsa-miR-4684-5p	CLIP-seq
MIRT2179243	hsa-miR-548c-3p	CLIP-seq
MIRT812895	hsa-miR-548s	CLIP-seq
MIRT2444537	hsa-miR-219-2-3p	CLIP-seq
MIRT2444538	hsa-miR-3664-3p	CLIP-seq
MIRT812867	hsa-miR-3926	CLIP-seq
MIRT2444539	hsa-miR-3929	CLIP-seq
MIRT2444540	hsa-miR-3942-5p	CLIP-seq
MIRT2444541	hsa-miR-4419b	CLIP-seq
MIRT2444542	hsa-miR-4433	CLIP-seq
MIRT2444543	hsa-miR-4459	CLIP-seq
MIRT2444544	hsa-miR-4478	CLIP-seq
MIRT2444545	hsa-miR-4484	CLIP-seq
MIRT1940327	hsa-miR-4695-5p	CLIP-seq
MIRT2444546	hsa-miR-4703-5p	CLIP-seq
MIRT2444547	hsa-miR-485-5p	CLIP-seq
MIRT812892	hsa-miR-510	CLIP-seq
MIRT2444548	hsa-miR-512-5p	CLIP-seq
MIRT2444549	hsa-miR-548an	CLIP-seq
MIRT812895	hsa-miR-548s	CLIP-seq
MIRT2444537	hsa-miR-219-2-3p	CLIP-seq
MIRT2444538	hsa-miR-3664-3p	CLIP-seq
MIRT812867	hsa-miR-3926	CLIP-seq
MIRT2444539	hsa-miR-3929	CLIP-seq
MIRT2444540	hsa-miR-3942-5p	CLIP-seq
MIRT2444541	hsa-miR-4419b	CLIP-seq
MIRT2444542	hsa-miR-4433	CLIP-seq
MIRT2444543	hsa-miR-4459	CLIP-seq
MIRT2444544	hsa-miR-4478	CLIP-seq
MIRT2444545	hsa-miR-4484	CLIP-seq
MIRT1940327	hsa-miR-4695-5p	CLIP-seq
MIRT2444546	hsa-miR-4703-5p	CLIP-seq
MIRT2444547	hsa-miR-485-5p	CLIP-seq
MIRT812892	hsa-miR-510	CLIP-seq
MIRT2444548	hsa-miR-512-5p	CLIP-seq
MIRT2444549	hsa-miR-548an	CLIP-seq
MIRT812895	hsa-miR-548s	CLIP-seq
MIRT2482751	hsa-miR-145	CLIP-seq
MIRT2482752	hsa-miR-1825	CLIP-seq
MIRT2482753	hsa-miR-199a-5p	CLIP-seq
MIRT2482754	hsa-miR-199b-5p	CLIP-seq
MIRT2482755	hsa-miR-204	CLIP-seq
MIRT2482756	hsa-miR-211	CLIP-seq
MIRT2444537	hsa-miR-219-2-3p	CLIP-seq
MIRT1940319	hsa-miR-299-5p	CLIP-seq
MIRT2482757	hsa-miR-3182	CLIP-seq
MIRT2444538	hsa-miR-3664-3p	CLIP-seq
MIRT812867	hsa-miR-3926	CLIP-seq
MIRT2444539	hsa-miR-3929	CLIP-seq
MIRT2482758	hsa-miR-3942-3p	CLIP-seq
MIRT2444540	hsa-miR-3942-5p	CLIP-seq
MIRT2482759	hsa-miR-4255	CLIP-seq
MIRT2482760	hsa-miR-4287	CLIP-seq
MIRT2444541	hsa-miR-4419b	CLIP-seq
MIRT2444542	hsa-miR-4433	CLIP-seq
MIRT2444543	hsa-miR-4459	CLIP-seq
MIRT2444544	hsa-miR-4478	CLIP-seq
MIRT2444545	hsa-miR-4484	CLIP-seq
MIRT2482761	hsa-miR-4659a-3p	CLIP-seq
MIRT2482762	hsa-miR-4659b-3p	CLIP-seq
MIRT2482763	hsa-miR-4663	CLIP-seq
MIRT2482764	hsa-miR-4685-3p	CLIP-seq
MIRT2482765	hsa-miR-4693-3p	CLIP-seq
MIRT1940327	hsa-miR-4695-5p	CLIP-seq
MIRT2444546	hsa-miR-4703-5p	CLIP-seq
MIRT2482766	hsa-miR-4760-3p	CLIP-seq
MIRT2444547	hsa-miR-485-5p	CLIP-seq
MIRT812892	hsa-miR-510	CLIP-seq
MIRT2444548	hsa-miR-512-5p	CLIP-seq
MIRT2444549	hsa-miR-548an	CLIP-seq
MIRT2482767	hsa-miR-548m	CLIP-seq
MIRT812895	hsa-miR-548s	CLIP-seq
MIRT2482768	hsa-miR-569	CLIP-seq
MIRT1940340	hsa-miR-658	CLIP-seq
MIRT2179246	hsa-miR-9	CLIP-seq
MIRT2179227	hsa-miR-1226	CLIP-seq
MIRT2482751	hsa-miR-145	CLIP-seq
MIRT2482752	hsa-miR-1825	CLIP-seq
MIRT2482753	hsa-miR-199a-5p	CLIP-seq
MIRT2482754	hsa-miR-199b-5p	CLIP-seq
MIRT2482755	hsa-miR-204	CLIP-seq
MIRT2482756	hsa-miR-211	CLIP-seq
MIRT2444537	hsa-miR-219-2-3p	CLIP-seq
MIRT1940319	hsa-miR-299-5p	CLIP-seq
MIRT2179230	hsa-miR-3180-5p	CLIP-seq
MIRT2482757	hsa-miR-3182	CLIP-seq
MIRT2444538	hsa-miR-3664-3p	CLIP-seq
MIRT812867	hsa-miR-3926	CLIP-seq
MIRT2444539	hsa-miR-3929	CLIP-seq
MIRT2444540	hsa-miR-3942-5p	CLIP-seq
MIRT2482759	hsa-miR-4255	CLIP-seq
MIRT2482760	hsa-miR-4287	CLIP-seq
MIRT2444541	hsa-miR-4419b	CLIP-seq
MIRT2444542	hsa-miR-4433	CLIP-seq
MIRT2444543	hsa-miR-4459	CLIP-seq
MIRT2444544	hsa-miR-4478	CLIP-seq
MIRT2444545	hsa-miR-4484	CLIP-seq
MIRT2482761	hsa-miR-4659a-3p	CLIP-seq
MIRT2482762	hsa-miR-4659b-3p	CLIP-seq
MIRT2482763	hsa-miR-4663	CLIP-seq
MIRT2482764	hsa-miR-4685-3p	CLIP-seq
MIRT2482765	hsa-miR-4693-3p	CLIP-seq
MIRT1940327	hsa-miR-4695-5p	CLIP-seq
MIRT2444546	hsa-miR-4703-5p	CLIP-seq
MIRT2482766	hsa-miR-4760-3p	CLIP-seq
MIRT2444547	hsa-miR-485-5p	CLIP-seq
MIRT812892	hsa-miR-510	CLIP-seq
MIRT2444548	hsa-miR-512-5p	CLIP-seq
MIRT2179241	hsa-miR-520a-5p	CLIP-seq
MIRT2179242	hsa-miR-525-5p	CLIP-seq
MIRT2444549	hsa-miR-548an	CLIP-seq
MIRT2482767	hsa-miR-548m	CLIP-seq
MIRT812895	hsa-miR-548s	CLIP-seq
MIRT2482768	hsa-miR-569	CLIP-seq
MIRT2179246	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	23453667
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006486	Process	Protein glycosylation	IMP	23453667
GO:0006493	Process	Protein O-linked glycosylation	IDA	23929950
GO:0006493	Process	Protein O-linked glycosylation	TAS
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IDA	23929950
GO:0008376	Function	Acetylgalactosaminyltransferase activity	TAS
GO:0016021	Component	Integral component of membrane	IEA

Other IDs

• MIM: 610194
• HGNC: 28596
• e!Ensembl: ENSG00000162885

Protein

• UniProt ID: Q8NCR0
• Protein name: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 (Beta-1,3-GalNAc-T2) (EC 2.4.1.313) (Beta-1,3-N-acetylgalactosaminyltransferase II)
• Protein function: Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dy
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01762	Galactosyl_T	302 → 458	Galactosyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary. {ECO:0000269|PubMed:14724282}.
• Sequence:

  MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSA
  RNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNP
  VLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLY
  QAEQEEALFIARFSPPSCGVQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHK
  VTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQEGDALLHNLHSRPQRLIDHI
  RNLHEEDALLKEESSIYDDIVFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDCY
  IDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQELEYPSPAYPAFACGSGYVISK
  DIVKWLASNSGRLKTYQGEDVSMGIWMAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWE
  LTELWKLKERCGDPCRCQAR

• Sequence length: 500

Pathways

KEGG:

Mannose type O-glycan biosynthesis
Metabolic pathways

Reactome:

O-linked glycosylation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	rs119463990, rs587777813, rs398123555, rs119463996, rs587777748, rs119463991, rs119463992, rs119464997, rs267606814, rs119463989, rs533916138, rs587777815, rs200198778, rs267606969, rs267606963, rs267606964, rs267606965, rs267606966, rs267606970, rs587777816, rs918556979, rs28941782, rs119462981, rs587777817, rs587777818, rs119462982, rs587777819, rs587777820, rs398124245, rs587777821, rs193919335, rs386834017, rs28942068, rs193919336, rs587777822, rs267606961, rs386834035, rs104894679, rs104894680, rs28937902, rs28937903, rs28937904, rs104894691, rs104894692, rs104894684, rs267607209, rs267607210, rs387907299, rs752069645, rs397514543, rs150736997, rs397514545, rs397514546, rs367543076, rs367543070, rs367543073, rs397514695, rs397514696, rs397509385, rs386834012, rs386834025, rs386834032, rs386834038, rs397509422, rs397509423, rs202160208, rs398123557, rs200056620, rs398124247, rs398124395, rs587777223, rs367543069, rs367543075, rs587777423, rs587777798, rs606231306, rs537001725, rs730882237, rs745738628, rs869320680, rs772370177, rs886041004, rs886041907, rs767865405, rs543163491, rs761821795, rs886043110, rs772950604, rs886044083, rs1057516986, rs1057517247, rs773884973, rs1057516258, rs1057517160, rs1057516966, rs370819786, rs750176716, rs766169193, rs1064793673, rs1553618354, rs1555356398, rs141588721, rs1553347936, rs1290836394, rs777437871, rs761071115, rs1554754182, rs1247934219, rs1326631351, rs1250351189, rs757347274, rs1554778005, rs1553342786, rs1301397800, rs374042455, rs1268759044, rs770219373, rs1553163077, rs1553162872, rs1554761310, rs1554766808, rs1554748292, rs1554752805, rs1554761402, rs1309132512, rs1554761462, rs557699482, rs1555738502, rs748087383, rs754403441, rs780433836, rs1569112355, rs1564341846, rs1282726649, rs755487513, rs1057520771, rs756973046, rs1557673817, rs1565899712, rs750453909, rs1572513308, rs1021357430, rs748798133, rs764784497, rs1588112379, rs746823238, rs1575461722, rs780725241, rs760816239, rs2089839448, rs1379052702, rs150877512, rs768144522	23453667, 29273094
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Holoprosencephaly	Holoprosencephaly	rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040, rs104894042, rs397515375, rs104894046, rs104894048, rs397515376, rs104894050, rs104894051, rs104894053, rs267607047, rs121917707, rs121917708, rs1594290658, rs387906867, rs387906995, rs387906996, rs387906997, rs398122882, rs397515499, rs397515500, rs397515502, rs587778786, rs587778788, rs587778789, rs587778792, rs146990376, rs587778799, rs587778803, rs587778805, rs587778806, rs794729641, rs864622212, rs876661335, rs876661331, rs876661330, rs876661329, rs886042458, rs1057518696, rs1057518689, rs1057518657, rs1057518660, rs763132615, rs1060499564, rs1060499563, rs1060499562, rs1554691658, rs1555332362, rs753473749, rs1554493810, rs1555332361, rs756225250, rs1554495331, rs528376963, rs1555650923, rs1554834892, rs139565972, rs1554834889, rs1490604080, rs1553337688, rs1554493607, rs1420292012, rs779093031, rs1555332212, rs1456001894, rs1558420022, rs1566405714, rs1567417422, rs1569507848, rs1584800601, rs1594291863, rs1584805934, rs1584806077, rs1594292057, rs1584800607, rs2053256914, rs1317614761, rs2057753419
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Mental retardation	Severe intellectual disability, Mild 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
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Limb-girdle muscular dystrophy	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	rs2137534216, rs104894422, rs762777463, rs104894423, rs137854524, rs137854521, rs137854523, rs137854529, rs398123555, rs119463996, rs587777814, rs119463992, rs267606971, rs267606967, rs28941782, rs119462982, rs193919335, rs28940869, rs193919336, rs28937900, rs587777823, rs104894682, rs28937901, rs28937903, rs28937905, rs104894689, rs104894691, rs104894692, rs121908110, rs104894655, rs786205076, rs121908955, rs786200896, rs786205082, rs121908956, rs745891180, rs121908957, rs28937581, rs121908958, rs121908959, rs121908960, rs121908961, rs786205083, rs121908963, rs786200897, rs786200898, rs727503909, rs1369919728, rs121909295, rs121909296, rs121909297, rs267607045, rs28936383, rs104893868, rs751427729, rs1578125670, rs104893869, rs104893870, rs104893871, rs137852621, rs137852622, rs28933693, rs397514451, rs137852623, rs281864927, rs281864928, rs121913572, rs80338802, rs121434544, rs121434545, rs121434546, rs121434547, rs1555423217, rs267606703, rs80338803, rs80338800, rs121434548, rs786205084, rs80338801, rs864309673, rs387907046, rs387907047, rs149278319, rs387907150, rs387907298, rs202247791, rs202247790, rs281864930, rs281865464, rs137854528, rs397514501, rs397515400, rs150518260, rs397517547, rs397517643, rs397517921, rs386834012, rs138642840, rs386834019, rs397509417, rs397509418, rs397509422, rs397509424, rs397509425, rs397509426, rs202160208, rs142336618, rs199922550, rs371675217, rs398123098, rs201736037, rs398123143, rs201892814, rs398123146, rs149095128, rs398123149, rs398123150, rs398123262, rs398123373, rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123768, rs398123770, rs377735262, rs140108514, rs398123781, rs398123782, rs398123786, rs398123787, rs398123789, rs398123794, rs398123796, rs398123797, rs398123799, rs373585652, rs398123800, rs398123802, rs398123807, rs201869739, rs398124395, rs199501657, rs398124625, rs587780289, rs587780290, rs587780423, rs587777423, rs587777430, rs587777431, rs137854526, rs137854527, rs45495192, rs587777669, rs587777797, rs587777798, rs587784483, rs727504535, rs727503422, rs727503839, rs727503911, rs141656719, rs143570936, rs727503837, rs727503910, rs727503915, rs757888349, rs768814872, rs786204786, rs200923373, rs796065318, rs794726871, rs796065319, rs557164942, rs794727158, rs762471207, rs797044667, rs794727318, rs201049092, rs794727350, rs778768583, rs756328339, rs794727544, rs370874727, rs794727636, rs201725369, rs766016391, rs794727697, rs794727745, rs760608643, rs794727851, rs141497053, rs794729178, rs797045106, rs797045427, rs766341386, rs779987458, rs1801505, rs376107921, rs863224933, rs863225020, rs863225019, rs746873768, rs369607332, rs863225021, rs372221490, rs566415362, rs774048743, rs863224958, rs863224963, rs863224964, rs863224965, rs863224966, rs374665929, rs863224956, rs863224957, rs863224959, rs863224960, rs863224961, rs863224962, rs758647756, rs869025337, rs869025562, rs779129892, rs869312122, rs543860009, rs150877497, rs878854367, rs878854364, rs869320700, rs869320701, rs759982570, rs869320702, rs142908436, rs875989850, rs875989851, rs1553775212, rs875989949, rs876657664, rs878854324, rs879255612, rs746315830, rs886039573, rs747349942, rs886039597, rs886041052, rs886041053, rs199870606, rs761211705, rs776043976, rs886041335, rs886041387, rs1555421871, rs886042091, rs886042093, rs547818652, rs886042108, rs886042110, rs749099493, rs200646556, rs80338804, rs761897806, rs149914792, rs543163491, rs886042379, rs886042389, rs868791726, rs369552114, rs886042418, rs886042439, rs886042440, rs528417986, rs764459544, rs151317754, rs886042478, rs886042503, rs886042504, rs886042506, rs139836397, rs770617208, rs886042540, rs886042546, rs886042557, rs886042573, rs886042578, rs886042584, rs768090444, rs886042617, rs753861836, rs886042641, rs200502077, rs886042749, rs886042757, rs777323132, rs753360208, rs886042827, rs202218890, rs752492870, rs773827877, rs886042895, rs138945081, rs149827237, rs886042951, rs776059672, rs886042964, rs780264754, rs779701414, rs769721856, rs886043031, rs142073798, rs770894443, rs777483913, rs760205277, rs368970223, rs886043221, rs281865480, rs372210292, rs746243052, rs886043392, rs746935735, rs886043432, rs778065845, rs781013226, rs756339648, rs886043706, rs886043752, rs758775001, rs886043860, rs773001194, rs747557404, rs886043900, rs886043962, rs886043964, rs886043966, rs886044004, rs747719953, rs886044052, rs775130589, rs886044083, rs199806879, rs886044183, rs766433603, rs147764579, rs781760379, rs757481230, rs886044377, rs886044379, rs886044381, rs886044411, rs747289205, rs886044422, rs752848213, rs886044475, rs200206447, rs753650776, rs886044527, rs761257703, rs886044688, rs1057516051, rs1057516515, rs780596734, rs1057517051, rs1057516360, rs747809412, rs1057517064, rs1057517205, rs773884973, rs1057517107, rs1057516300, rs1057516650, rs1057517142, rs763986788, rs1057516242, rs1057516888, rs1057516664, rs1057517377, rs1057516548, rs1057516729, rs550944082, rs1057519132, rs150331292, rs1057521141, rs754415994, rs1057524468, rs375159973, rs1554094947, rs1064794020, rs1064797040, rs1064793620, rs144356125, rs1085307995, rs1085307534, rs1131692158, rs750195040, rs1555568335, rs1555568318, rs1555420475, rs199954546, rs1555606976, rs1403946332, rs1553482872, rs1553543506, rs1554269966, rs1555420075, rs769688710, rs778568339, rs769785004, rs1554009901, rs1186858080, rs140403642, rs1553940687, rs775458201, rs751427686, rs1553940274, rs1380525804, rs1168346560, rs1555248000, rs200379491, rs752640127, rs200166783, rs1327595249, rs1290836394, rs753811189, rs1023002894, rs1553420848, rs1553555585, rs369784333, rs901764287, rs1285082850, rs766156798, rs1555568518, rs1573744795, rs1555568264, rs766334893, rs1555423060, rs138254713, rs1342189589, rs1555421523, rs747685252, rs1555421524, rs1555420462, rs142004418, rs1247934219, rs756118312, rs1553556116, rs1553522133, rs555514820, rs147774793, rs1553416025, rs776472879, rs1274808359, rs1555420634, rs112500642, rs188150039, rs1446214240, rs1366387924, rs1220674950, rs1009131948, rs1250461669, rs1555606959, rs201518227, rs1553521119, rs1013015106, rs773386253, rs1554007706, rs1553939675, rs1448040082, rs561719071, rs745967703, rs1275289254, rs1555420642, rs1301397800, rs770905160, rs200916654, rs758058910, rs773736505, rs1554930314, rs1259378167, rs1553495983, rs1278864604, rs1553521017, rs1553522730, rs779969348, rs139258703, rs1553376558, rs1553381945, rs1474151297, rs766891289, rs1553531682, rs766936914, rs199543257, rs1420930684, rs1553376691, rs757917335, rs1553408378, rs751473506, rs1451269647, rs1459713589, rs1553522104, rs1553522751, rs768546511, rs1553535902, rs1236367931, rs1553541329, rs1380642629, rs778092738, rs1213965862, rs1553412826, rs1553422709, rs1553422723, rs1553518087, rs1553536007, rs1553537332, rs1553542142, rs750028300, rs763674597, rs1553377764, rs1553414413, rs1553415211, rs909564120, rs771257070, rs1264362642, rs1267810339, rs1553940262, rs1553940079, rs762652676, rs1553940661, rs1553940663, rs1553940957, rs762114570, rs1555234810, rs1555247973, rs780348174, rs1555234799, rs913248720, rs1555248289, rs1199421806, rs1555240119, rs758078849, rs1555245353, rs1555420468, rs1555420507, rs1345121557, rs1555421263, rs1555422293, rs1555422298, rs1555422832, rs1555423021, rs1555417271, rs1555420302, rs750083132, rs1555420765, rs746075428, rs1555422954, rs760919949, rs764086484, rs1555420647, rs1555421271, rs1555421847, rs1334369407, rs1555423015, rs768374736, rs1555423046, rs1555417257, rs1555417321, rs1555420083, rs1459288402, rs1555421280, rs1555421293, rs1555421842, rs1555421854, rs1293496023, rs767739787, rs1555422839, rs1555422847, rs1555422856, rs777636094, rs1555423027, rs766917640, rs1555423146, rs1447774727, rs1555423222, rs1412537279, rs1555568775, rs1555569339, rs903823830, rs1555568965, rs1555569342, rs763372958, rs1555738245, rs1555738502, rs1555738568, rs1555738651, rs752731569, rs1555738764, rs765885747, rs1555738149, rs1555738883, rs1555738201, rs1555738753, rs587780334, rs1555739041, rs748087383, rs768606230, rs1555568325, rs1555568396, rs1555568876, rs770711331, rs1191737604, rs1555738823, rs1173430388, rs1555738204, rs1555738311, rs1555738456, rs1555738686, rs1555738675, rs1483781400, rs754403441, rs1555739280, rs1555739333, rs1553416039, rs1559697515, rs1554094927, rs1566965806, rs754761503, rs1162942997, rs1567739339, rs1566975163, rs766400853, rs1562273395, rs1562497781, rs1562200866, rs1559446852, rs1563083759, rs1559177278, rs534484592, rs1567739228, rs1598277713, rs1566983844, rs769873428, rs1564930625, rs1567739735, rs1567741398, rs1432706111, rs756689063, rs1558708492, rs1566011034, rs1387802849, rs760915007, rs1559267059, rs767120669, rs1180079162, rs762946781, rs1566984441, rs1559053603, rs1558771348, rs1560034617, rs569565392, rs1483190866, rs750976634, rs750443041, rs1456182703, rs1559109621, rs1562137622, rs1562133291, rs796206315, rs1332603843, rs763586263, rs191912891, rs761935462, rs1558783870, rs777924443, rs1558613592, rs1583845651, rs1574340607, rs1573704236, rs1574016452, rs778326858, rs887577241, rs1337417322, rs1574097294, rs758993965, rs1574354515, rs1573060017, rs1397263011, rs1262459682, rs1595821204, rs781723572, rs1595838545, rs1595845459, rs1595846922, rs1598265248, rs748798133, rs1180978840, rs1571735403, rs1595826673, rs1583591577, rs1573100371, rs778539477, rs1573671276, rs1573094789, rs866823474, rs1599937963, rs1593197637, rs1364860348, rs754889480, rs1574277160, rs1573138336, rs746844753, rs1577824925, rs936193061, rs1578126090, rs1185229314, rs1392196900, rs776988725, rs11581962, rs1595837172, rs1595794433, rs1575185742, rs1575285509, rs557526069, rs753711667, rs1574264671, rs758107024, rs1574341049, rs1572994572, rs1573009747, rs1590300702, rs1233836740, rs1593216248, rs1229291913, rs1595828703, rs1555421532, rs1595844413, rs1595847257, rs778851652, rs1200988060, rs1574817395, rs575938861, rs1648544786, rs971134497, rs762398889, rs1395588065, rs1737457235, rs1776950897, rs1351510337, rs1881219252, rs1011397929, rs1325816562, rs2052593499, rs2053401167, rs2053442769, rs1566975090, rs763719290, rs2053485642, rs2053509916, rs1409503203, rs774048414, rs2054186817, rs1457010016, rs1904771410, rs1904986620, rs1905103030, rs1905167458, rs1905254738, rs1905256830, rs760989961, rs905322985, rs756798409, rs1883152345, rs113109898, rs1437210856, rs1311819000, rs1054547392, rs150877512, rs1688921542
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
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
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	15645691, 9475091, 7538982, 27666369, 2001103, 12389028
Muscle eye brain disease	Muscle eye brain disease, Muscle-eye-brain disease	rs193919335, rs386834017, rs28940869, rs193919336, rs267606962, rs386834035, rs386834012, rs386834013, rs386834015, rs138642840, rs386834016, rs386834018, rs386834019, rs386834020, rs386834021, rs386834022, rs386834024, rs386834023, rs386834025, rs386834026, rs386834027, rs386834028, rs386834029, rs386834031, rs386834032, rs386834033, rs386834034, rs386834037, rs386834038, rs386834039, rs386834040, rs190057175, rs1057517340, rs749332339, rs1057516986, rs1057516903, rs1057517422, rs1057516576, rs1057516409, rs1057517369, rs1057516955, rs1057516830, rs1057516318, rs1057517247, rs1057517355, rs1057517449, rs1057516477, rs1057517153, rs1057516871, rs1057516478, rs36038536, rs1553162601, rs1553162873, rs1553163360, rs1317832573, rs1457667479, rs1268759044, rs770219373, rs1553162663, rs1553163077, rs1553162872, rs1553163254, rs1048865247, rs1553163590, rs1553163721, rs1571655768	23453667
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710
Muscular dystrophy-dystroglycanopathy	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	rs193919336, rs386834035, rs104894682, rs28937901, rs28937902, rs28937903, rs28937904, rs121908110, rs121908675, rs397515396, rs397515397, rs387907160, rs387907161, rs387907162, rs368593151, rs397515408, rs397514547, rs397514548, rs138642840, rs386834024, rs386834028, rs386834038, rs386834040, rs199922550, rs398124395, rs886042554, rs886044183, rs749332339, rs1057517355, rs1554371369, rs761071115, rs1282726649, rs1424631447, rs1176001640, rs150877512
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803, rs121908282, rs549625604, rs137852837, rs281865192, rs80044281, rs75895925, rs121918244, rs750962965, rs104893678, rs104893680, rs28940313, rs386834261, rs28940314, rs104894471, rs104894474, rs104894475, rs28940315, rs121434337, rs202126574, rs111033578, rs119103283, rs199476183, rs267607017, rs80338903, rs111033367, rs121912599, rs80338902, rs111033364, rs121912600, rs121909398, rs119103286, rs587777809, rs606231137, rs28940274, rs28941468, rs28941469, rs121918283, rs28940276, rs28940570, rs28940278, rs281865528, rs121918284, rs121918286, rs121918288, rs121918289, rs80100937, rs119466001, rs121434241, rs121434242, rs121434236, rs121434238, rs121907899, rs267606876, rs267606875, rs121434286, rs387906312, rs587776590, rs111033258, rs587776595, rs587776596, rs1362648752, rs74315205, rs121908175, rs121908177, rs121908178, rs138043021, rs121908180, rs111033270, rs1131690770, rs28937883, rs80356530, rs121908375, rs1480243085, rs397515359, rs267606739, rs397515360, rs74315396, rs730880273, rs119489105, rs371956016, rs104894492, rs104894493, rs28937873, rs121912631, rs62637014, rs137853005, rs137853006, rs62635656, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs62638214, rs62638624, rs104894082, rs869320726, rs80358322, rs80358312, rs28939709, rs72664233, rs796051866, rs121918358, rs141659620, rs111033570, rs121909074, rs121909076, rs1581742970, rs104894672, rs61748436, rs104894673, rs2123743692, rs61750415, rs201578674, rs61751408, rs61749438, rs61750061, rs61750064, rs61751374, rs61748548, rs61750200, rs121909205, rs61750130, rs61752410, rs387906387, rs61751383, rs121909206, rs61753033, rs267607077, rs62638191, rs62638193, rs111033593, rs104894374, rs121434491, rs796051871, rs397515379, rs121917851, rs104893967, rs121434631, rs61750172, rs61750173, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs199476104, rs199476112, rs61752063, rs61752067, rs104894928, rs104894933, rs104894930, rs61752068, rs62638634, rs606231180, rs606231181, rs28933687, rs104894927, rs104894878, rs104894880, rs132630264, rs587776746, rs132630266, rs122456134, rs28934610, rs104895317, rs113624356, rs137853300, rs587776778, rs777094000, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs104893780, rs104893787, rs104893783, rs104893786, rs104893782, rs104893790, rs104893791, rs104893793, rs104893794, rs104893795, rs137853290, rs28933990, rs137853291, rs121918579, rs730880317, rs121918581, rs61752895, rs61752871, rs121917745, rs61755806, rs121918563, rs61755793, rs61755792, rs61748429, rs61755816, rs61755798, rs121918565, rs61755769, rs61755786, rs61755771, rs121918567, rs61755783, rs121912550, rs121912552, rs62625014, rs121912884, rs80356555, rs121434542, rs80359870, rs193302848, rs193302849, rs387906646, rs121909835, rs61749433, rs61751399, rs387906836, rs387906837, rs374390376, rs786200928, rs201391050, rs373909351, rs140287375, rs148374859, rs483352908, rs140511594, rs387907136, rs770066665, rs376586707, rs387907268, rs142968179, rs150726175, rs387907294, rs200311463, rs149648640, rs747425652, rs387907314, rs199476198, rs199476187, rs199476189, rs199476190, rs207482233, rs199476197, rs62645748, rs786205121, rs140256288, rs201153410, rs397516281, rs111033180, rs397516295, rs111033233, rs199897298, rs111033214, rs111033178, rs111033403, rs111033181, rs397516308, rs111033182, rs111033276, rs397516317, rs111033215, rs397516323, rs111033192, rs397516326, rs111033486, rs111033284, rs111033285, rs367928692, rs370983472, rs371981035, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs397517973, rs397517976, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033417, rs397517990, rs397517994, rs111033273, rs397518011, rs397518014, rs375668376, rs397518021, rs397518022, rs111033386, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518048, rs73090721, rs111033263, rs386833612, rs386833697, rs386833728, rs386833749, rs386834148, rs386834153, rs786200944, rs398122391, rs386834239, rs199469697, rs267598278, rs267601099, rs398122960, rs398122525, rs398122991, rs369037463, rs61750120, rs61752435, rs1800728, rs398123339, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs431905521, rs104895298, rs104895316, rs61749679, rs61750161, rs61750168, rs61750183, rs61750185, rs61749669, rs61755778, rs61755780, rs61755781, rs61755784, rs61755785, rs61755787, rs62645929, rs62645931, rs281865372, rs61755800, rs61755801, rs61755803, rs61755805, rs61755810, rs61755814, rs61755815, rs62645935, rs61755766, rs281865373, rs61748430, rs61748433, rs281865301, rs62635001, rs62635002, rs62653029, rs62635009, rs62638627, rs62638626, rs62638642, rs281865297, rs62638648, rs62650218, rs62640583, rs62640592, rs281865295, rs61751276, rs61751281, rs62636295, rs62636299, rs61752873, rs281865285, rs62642584, rs61752877, rs62642582, rs61751279, rs61752906, rs62645885, rs62645889, rs61750457, rs61752062, rs61752065, rs61752071, rs61752072, rs61752145, rs281865335, rs62645879, rs61752156, rs61752158, rs61752159, rs61753164, rs281865348, rs61753170, rs61753171, rs61753174, rs281865352, rs281865354, rs281865355, rs281865356, rs281865357, rs281865358, rs281865359, rs281865361, rs281865362, rs281865365, rs281865364, rs281865367, rs281865368, rs281865369, rs61748547, rs63749083, rs62642569, rs61748550, rs61751410, rs61752391, rs61748552, rs61748523, rs61748556, rs150774447, rs61748558, rs61748559, rs61751385, rs61751393, rs55732384, rs61749409, rs61749410, rs61749412, rs61751394, rs61749414, rs61749415, rs61749418, rs61752401, rs61751263, rs62654395, rs61749420, rs201738997, rs61749422, rs62654397, rs61749423, rs61749425, rs61751412, rs61748526, rs61749428, rs61751395, rs61750202, rs61749436, rs61752406, rs61749444, rs61749446, rs61748529, rs61749448, rs61749449, rs61749450, rs61749451, rs61749453, rs61752411, rs62645948, rs61748530, rs61751413, rs61749456, rs61751262, rs61749459, rs61751397, rs61750062, rs61752415, rs61750065, rs61748531, rs61751398, rs61752416, rs61752417, rs62645946, rs61752419, rs61750121, rs1801269, rs61752421, rs61752423, rs61752425, rs281865514, rs61751400, rs61752427, rs61752428, rs62642573, rs61750137, rs61750139, rs61754044, rs61750138, rs61750140, rs61750141, rs61750142, rs61752434, rs61750145, rs61750146, rs61750147, rs61751402, rs281865377, rs62646861, rs61750152, rs62642574, rs62645957, rs61750153, rs61750155, rs61752438, rs61752439, rs61751403, rs61750562, rs62646872, rs61750564, rs61753021, rs61750566, rs61750567, rs61751377, rs61751405, rs61750569, rs61753028, rs61750571, rs61750573, rs61751406, rs61750574, rs61753029, rs61753030, rs62642562, rs62642576, rs61750633, rs62642579, rs61748534, rs61751407, rs61753032, rs61751389, rs61753036, rs61750639, rs61753037, rs61748517, rs61750641, rs61750643, rs61753038, rs61750644, rs61750645, rs281865382, rs61750648, rs62642565, rs61750649, rs61748520, rs61750651, rs61753043, rs61750652, rs61750653, rs61750654, rs61751384, rs63749058, rs61748538, rs61751409, rs61753045, rs61753046, rs63749055, rs61750659, rs62645958, rs62646864, rs62645944, rs61748545, rs61751418, rs62636512, rs281865516, rs62636511, rs281865168, rs281865171, rs281865529, rs281865204, rs281865221, rs281865224, rs281865206, rs281865227, rs281865228, rs281865230, rs281865209, rs281865236, rs200277476, rs281865238, rs281865239, rs281865244, rs281865246, rs281865247, rs137853905, rs281865213, rs281865214, rs281865215, rs281865216, rs281865250, rs281865253, rs281865255, rs1805143, rs281865257, rs281865258, rs281865218, rs1805144, rs281865259, rs281865261, rs281865262, rs281865265, rs281865269, rs281865271, rs281865277, rs62637025, rs281865194, rs62640580, rs62640570, rs62636266, rs62636271, rs62636273, rs62636276, rs281865174, rs62645752, rs137853907, rs137853923, rs377177061, rs202210819, rs587777377, rs199882533, rs587777599, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs527236129, rs148460146, rs527236048, rs527236101, rs527236100, rs527236062, rs527236056, rs527236092, rs527236065, rs527236068, rs527236069, rs527236066, rs527236076, rs527236067, rs527236082, rs372989281, rs527236116, rs201493928, rs527236105, rs527236083, rs527236113, rs527236086, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236123, rs55958016, rs587777694, rs587783009, rs587783017, rs713993049, rs727504551, rs727505116, rs727503731, rs146733615, rs727503715, rs727505343, rs727503723, rs376764423, rs727504075, rs782252317, rs797044513, rs797044516, rs150232843, rs730882143, rs730882261, rs142422525, rs746523071, rs786204428, rs61750423, rs372006750, rs786204762, rs373862340, rs773372519, rs786204444, rs786204701, rs786204761, rs750228923, rs749909863, rs786205148, rs748902766, rs786205445, rs2723341, rs786205493, rs368098126, rs786205579, rs786205626, rs786205652, rs750542962, rs863223339, rs779007169, rs201422368, rs786205664, rs786205663, rs746559651, rs786205665, rs786205662, rs786205661, rs794726979, rs794727001, rs794727006, rs794727120, rs794727139, rs794727197, rs797044676, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs377311148, rs794727631, rs794727640, rs201657446, rs372347027, rs758329611, rs797044761, rs148660051, rs779791079, rs753330544, rs796065331, rs199946797, rs794729650, rs373273223, rs781192528, rs534542684, rs386833744, rs886041039, rs746174328, rs797045089, rs752683070, rs774122562, rs376306240, rs368049814, rs797045228, rs770558150, rs772624348, rs200692438, rs772136379, rs863224941, rs759781200, rs771214648, rs370483961, rs869025207, rs777668842, rs753874898, rs371525247, rs749439750, rs780624853, rs727503855, rs863225212, rs201541131, rs80358295, rs80358284, rs869312182, rs869312180, rs869312186, rs869312184, rs869312188, rs869312183, rs869312181, rs869312187, rs869312185, rs200460601, rs768933093, rs879255593, rs869320709, rs749012133, rs762951570, rs869320785, rs760225886, rs766590491, rs876657731, rs397517963, rs876657718, rs876661298, rs775177930, rs886044764, rs886044761, rs886044759, rs886044758, rs752147871, rs886044756, rs142253670, rs886044754, rs886044753, rs886044752, rs760549861, rs886044750, rs886044749, rs886044747, rs886044732, rs886044746, rs759672616, rs886044745, rs568792949, rs886044742, rs200967229, rs886044741, rs886044740, rs746541266, rs886044738, rs886044737, rs886044736, rs768278935, rs1047376, rs756840095, rs886044731, rs886044735, rs201471607, rs61749441, rs746566873, rs61749427, rs766570903, rs886044730, rs61752398, rs886044728, rs886044727, rs886044726, rs886044725, rs765707028, rs61752390, rs886044722, rs886044721, rs886044720, rs886044719, rs778908435, rs878853366, rs878853364, rs767648174, rs878853371, rs878853367, rs878853369, rs746837034, rs368675850, rs878853407, rs878853413, rs878853414, rs878853411, rs878853405, rs758705873, rs878853404, rs878853408, rs765293412, rs878853410, rs878853372, rs878853397, rs878853396, rs878853355, rs878853354, rs878853353, rs750151209, rs201186440, rs761440783, rs757470958, rs878853359, rs878853357, rs878853358, rs768660614, rs878853379, rs878853352, rs878853351, rs878853400, rs762078182, rs372513650, rs199584830, rs878853348, rs878853350, rs878853349, rs143994166, rs878853382, rs746359399, rs557432569, rs769156393, rs878853327, rs878853329, rs878853328, rs878853326, rs751788879, rs878853337, rs878853347, rs878853378, rs878853376, rs781112960, rs878853361, rs878853362, rs747835249, rs371496675, rs878853360, rs878853363, rs878853392, rs878853391, rs878853390, rs577932201, rs878853389, rs878853341, rs878853338, rs878853339, rs878853385, rs377031435, rs760430056, rs878853394, rs878853387, rs878853342, rs878853383, rs878853331, rs878853335, rs878853334, rs868538598, rs878853374, rs878853381, rs867451420, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs757557272, rs552069173, rs139027297, rs765998048, rs886039311, rs748810737, rs886039867, rs748706582, rs886041040, rs886041502, rs886041951, rs748394238, rs886041233, rs367877017, rs886041141, rs780225183, rs886041142, rs769035379, rs753353134, rs886041176, rs886041179, rs886041177, rs886041376, rs886041178, rs758109813, rs760165634, rs750396156, rs749526785, rs371777049, rs886043023, rs776256380, rs773539640, rs776740276, rs575453437, rs201855602, rs886044148, rs886044302, rs770748359, rs753018563, rs779426136, rs200094982, rs141563823, rs770218590, rs752953889, rs886063161, rs199877211, rs749199721, rs1057517533, rs536593247, rs758921360, rs1057517251, rs1057516451, rs376894444, rs746875134, rs147030232, rs1057517692, rs1057517844, rs374536346, rs116471343, rs865990202, rs61752902, rs387906385, rs1057517869, rs1057517700, rs543698823, rs752179149, rs1057517857, rs1057517982, rs62645894, rs1057517715, rs1057518922, rs1057518955, rs775796581, rs1057518793, rs368088025, rs1057519165, rs1057519193, rs556788423, rs1057519342, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs760790294, rs1057520213, rs371489809, rs1057521112, rs763797356, rs1057521475, rs766246531, rs1060499783, rs747656448, rs745340459, rs1166022838, rs775950661, rs375413604, rs1064793289, rs200712760, rs137954284, rs1064793014, rs762150575, rs141823837, rs1064793006, rs769317780, rs559155109, rs753925314, rs769671323, rs199740930, rs1064794848, rs771898125, rs775283269, rs1064794012, rs763762899, rs139842473, rs777849213, rs112005636, rs1064797133, rs1064797134, rs770011113, rs1064797247, rs777497868, rs773065850, rs1064797365, rs1064797368, rs752159903, rs866978361, rs1085307968, rs1375507464, rs772725807, rs201320564, rs776896038, rs764742792, rs1554612159, rs62645747, rs753886165, rs753614067, rs140451304, rs555164150, rs539192853, rs766379510, rs281865531, rs369523378, rs1553192715, rs72664214, rs72653787, rs1473611414, rs1455470131, rs752762669, rs369775002, rs145282040, rs773914330, rs1553263218, rs1003869920, rs1553252388, rs762159022, rs751111524, rs746551311, rs780308389, rs199683808, rs1553186896, rs1297857869, rs776757706, rs778234759, rs1435203678, rs1553188588, rs1553188682, rs1553189507, rs1553190559, rs1553190664, rs1553192432, rs1553192682, rs1553192726, rs1553193813, rs764759172, rs1356104318, rs541717028, rs111733491, rs1553512879, rs1553513437, rs569826109, rs367658438, rs750987123, rs1553403585, rs754995805, rs758291149, rs1553711564, rs1553780837, rs373331232, rs780697796, rs370898371, rs753942596, rs144484128, rs146591309, rs777309662, rs1554186385, rs1554269053, rs1554270834, rs181169439, rs1554183440, rs930421180, rs1554214453, rs760798455, rs764163418, rs866395428, rs765129639, rs1554519555, rs1449723475, rs1554519651, rs769601671, rs977790637, rs1554857529, rs756678484, rs1554824273, rs906525288, rs1555036138, rs1555037395, rs1555096248, rs1555099048, rs531851447, rs1199012623, rs766096417, rs377257254, rs199830550, rs756806434, rs1352458826, rs189234741, rs752997229, rs771450991, rs1555792415, rs1555811525, rs758316679, rs748531024, rs778612831, rs1555870809, rs749009747, rs1555874538, rs1555961832, rs1555961852, rs1556318633, rs1557106557, rs1555955061, rs1554998040, rs1554628460, rs1461319754, rs770390524, rs1553901823, rs1347914291, rs1554519822, rs555421894, rs1556297584, rs1556300610, rs1556300621, rs1554264613, rs758052634, rs775836730, rs1555208870, rs1409688898, rs763371769, rs1554186463, rs779450345, rs778606847, rs754768875, rs765429911, rs1272411609, rs1349849938, rs1002670900, rs1553781140, rs373792616, rs200335504, rs1369414978, rs1366496013, rs1555202584, rs567573386, rs1365490247, rs141386891, rs534534437, rs769838859, rs1201940872, rs753090404, rs138958917, rs761469964, rs1460604134, rs748357067, rs1429786931, rs201730567, rs1553187162, rs1553188071, rs765063151, rs780910490, rs143344549, rs866982675, rs769215629, rs752521456, rs1553189179, rs751176116, rs1244761864, rs765402802, rs782077721, rs143745703, rs201823777, rs1553188916, rs1309140887, rs1431752515, rs1554963305, rs1555965107, rs142285818, rs1307312865, rs1554269081, rs769512989, rs1555225566, rs1553196583, rs951379922, rs1554963058, rs1555200648, rs1555550617, rs1555968248, rs1555098634, rs199636364, rs768161313, rs1553252499, rs1177257719, rs200871041, rs757676723, rs747160949, rs764917754, rs1295968274, rs764182950, rs747063294, rs367674026, rs779572631, rs1553257707, rs746447649, rs1431048303, rs749452910, rs1553273330, rs779716464, rs1485173724, rs1553261372, rs1553250150, rs1553299079, rs199782530, rs370327669, rs199982344, rs1553261479, 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rs1577845276, rs1722845773, rs1472802723, rs898144119, rs1383907349, rs781616522, rs369896113, rs1753232409, rs1751572548, rs769286352, rs1761904690, rs1768621810, rs1769469813, rs1826145876, rs1951414426, rs1402893508, rs764824311, rs1865145294, rs769524849, rs1280991447, rs762805265, rs1841921374, rs547198427, rs2058440863, rs1941247515, rs1941898895, rs1856202628, rs1856699646, rs1956849074, rs1957972028, rs1939312423, rs1399741348, rs752197734, rs2035880971, rs2038012556, rs760391688, rs2054201689, rs2065735740, rs748523056, rs2034739931, rs1961362638, rs2073798309, rs2073871791, rs2073961843, rs2073971858, rs752137434, rs2035758739, rs1928365871, rs1928241490, rs2067453631, rs1924915809, rs1925389524, rs782557600, rs2065753439, rs1924181543, rs1930090887, rs1603263147, rs1931625021, rs1934693393, rs748680704, rs765070399, rs765676754, rs1366609497, rs1657036615, rs1467000353, rs1667513233, rs1167380267, rs2084786704, rs1295259849, rs1819778622, rs374517178, rs368984997, rs2040644756, rs775073228, rs148045000, rs2067140574, rs2067148119, rs2067179633, rs2067190976, rs2067200470, rs2067498092, rs1924193863
Seizure	Generalized 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
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937
Walker-warburg congenital muscular dystrophy	Walker-Warburg congenital muscular dystrophy	rs119463990, rs587777813, rs398123555, rs587777748, rs119463991, rs119463992, rs119464997, rs267606814, rs104894679, rs104894680, rs104894682, rs28937901, rs28937903, rs28937905, rs104894691, rs104894692, rs121908110, rs150736997, rs397514695, rs398123557, rs398124395, rs537001725, rs752582904, rs746763506, rs767865405, rs543163491, rs886042506, rs760731888, rs886042778, rs761821795, rs886043706, rs886043959, rs772950604, rs886044083, rs754403441, rs886044183, rs773884973, rs1057516258, rs750176716, rs1060502109, rs1290836394, rs1555739020, rs1555738103, rs1247934219, rs1554754678, rs1250351189, rs1301397800, rs1554761310, rs1554761402, rs1309132512, rs1554761462, rs1555738502, rs1555738651, rs1555738764, rs765885747, rs1555738883, rs1555738201, rs1555738753, rs587780334, rs748087383, rs768606230, rs1173430388, rs1555738204, rs1555738686, rs1555739280, rs1564290459, rs1568419860, rs958678700, rs764125009, rs1057520771, rs1564284467, rs1564301594, rs1203741361, rs1588110929, rs1438288380, rs1588222602, rs1588315166, rs748798133, rs1599939853, rs1588136441, rs1588112379, rs1588222870, rs754081311, rs377417974	23453667

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Depressive disorder			ClinVar
Specific learning disorder	Specific learning disability			ClinVar
Muscle Eye Brain Disease	muscle-eye-brain disease			GenCC
Non-Syndromic Intellectual Disability	autosomal recessive non-syndromic intellectual disability			GenCC
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Autism Spectrum Disorder	Associate	35456500
Central Nervous System Vascular Malformations	Associate	24084573
Developmental Disabilities	Associate	35456500
Hydrocephalus	Associate	35338537
Intellectual Disability	Associate	29273094
Language Development Disorders	Associate	35456500
Mental Disorders	Associate	29273094
Muscular Dystrophies	Associate	23929950, 24084573, 25353622, 29273094, 35456500
Nonsyndromic Holoprosencephaly	Associate	29273094
Seizures	Associate	29273094
Uniparental disomy of chromosome 2	Associate	35456500
Walker Warburg Syndrome	Associate	29273094, 35338537, 35456500