SIX3 (SIX homeobox 3)

Gene

• Entrez ID: 6496
• Gene name: SIX homeobox 3
• Gene symbol: SIX3
• Synonyms: HPE2
• Chromosome: 2
• Chromosome location: 2p21
• Summary: This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT612491	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	19536157
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT635884	hsa-miR-10a-3p	HITS-CLIP	23824327
MIRT635883	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT635881	hsa-miR-5688	HITS-CLIP	23824327
MIRT635882	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT635880	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT635879	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT635878	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT621100	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT621100	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT621099	hsa-miR-665	HITS-CLIP	23824327
MIRT621098	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT621097	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT621096	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT621095	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT621094	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT621100	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT621099	hsa-miR-665	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT635884	hsa-miR-10a-3p	HITS-CLIP	23824327
MIRT635883	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT635881	hsa-miR-5688	HITS-CLIP	23824327
MIRT635882	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT635880	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT635879	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT635878	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT621100	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT621099	hsa-miR-665	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT621096	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT621095	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT621100	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT621099	hsa-miR-665	HITS-CLIP	23824327
MIRT621098	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT621097	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT621096	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT621095	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT621094	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT484631	hsa-miR-4428	PAR-CLIP	20371350
MIRT484630	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT484629	hsa-miR-4779	PAR-CLIP	20371350
MIRT484627	hsa-miR-1321	PAR-CLIP	20371350
MIRT484626	hsa-miR-4739	PAR-CLIP	20371350
MIRT484625	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT484624	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT484623	hsa-miR-1296-3p	PAR-CLIP	20371350
MIRT484622	hsa-miR-4419a	PAR-CLIP	20371350
MIRT484621	hsa-miR-4510	PAR-CLIP	20371350
MIRT484620	hsa-miR-6127	PAR-CLIP	20371350
MIRT484619	hsa-miR-6129	PAR-CLIP	20371350
MIRT484618	hsa-miR-6130	PAR-CLIP	20371350
MIRT484617	hsa-miR-6133	PAR-CLIP	20371350
MIRT484616	hsa-miR-4481	PAR-CLIP	20371350
MIRT484614	hsa-miR-4745-5p	PAR-CLIP	20371350
MIRT484615	hsa-miR-4533	PAR-CLIP	20371350
MIRT484613	hsa-miR-765	PAR-CLIP	20371350
MIRT484612	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT484611	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT484610	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT484609	hsa-miR-4271	PAR-CLIP	20371350
MIRT484608	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT484607	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT484606	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT484605	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT484604	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT484602	hsa-miR-5698	PAR-CLIP	20371350
MIRT484603	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT484601	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT484600	hsa-miR-4525	PAR-CLIP	20371350
MIRT484599	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT484598	hsa-miR-4447	PAR-CLIP	20371350
MIRT484597	hsa-miR-4472	PAR-CLIP	20371350
MIRT484596	hsa-miR-1275	PAR-CLIP	20371350
MIRT484595	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT484594	hsa-miR-6758-5p	PAR-CLIP	20371350
MIRT484631	hsa-miR-4428	PAR-CLIP	24398324
MIRT484594	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT484629	hsa-miR-4779	PAR-CLIP	24398324
MIRT484627	hsa-miR-1321	PAR-CLIP	24398324
MIRT484626	hsa-miR-4739	PAR-CLIP	24398324
MIRT484625	hsa-miR-4756-5p	PAR-CLIP	24398324
MIRT484624	hsa-miR-6783-5p	PAR-CLIP	24398324
MIRT484623	hsa-miR-1296-3p	PAR-CLIP	24398324
MIRT484622	hsa-miR-4419a	PAR-CLIP	24398324
MIRT484621	hsa-miR-4510	PAR-CLIP	24398324
MIRT484620	hsa-miR-6127	PAR-CLIP	24398324
MIRT484619	hsa-miR-6129	PAR-CLIP	24398324
MIRT484618	hsa-miR-6130	PAR-CLIP	24398324
MIRT484617	hsa-miR-6133	PAR-CLIP	24398324
MIRT484616	hsa-miR-4481	PAR-CLIP	24398324
MIRT484614	hsa-miR-4745-5p	PAR-CLIP	24398324
MIRT484615	hsa-miR-4533	PAR-CLIP	24398324
MIRT484613	hsa-miR-765	PAR-CLIP	24398324
MIRT484612	hsa-miR-4747-5p	PAR-CLIP	24398324
MIRT484611	hsa-miR-5196-5p	PAR-CLIP	24398324
MIRT484610	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT484609	hsa-miR-4271	PAR-CLIP	24398324
MIRT484608	hsa-miR-4725-3p	PAR-CLIP	24398324
MIRT484607	hsa-miR-6780b-5p	PAR-CLIP	24398324
MIRT484606	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT484605	hsa-miR-625-5p	PAR-CLIP	24398324
MIRT484604	hsa-miR-4723-5p	PAR-CLIP	24398324
MIRT484602	hsa-miR-5698	PAR-CLIP	24398324
MIRT484603	hsa-miR-6870-5p	PAR-CLIP	24398324
MIRT484601	hsa-miR-7111-5p	PAR-CLIP	24398324
MIRT484600	hsa-miR-4525	PAR-CLIP	24398324
MIRT484599	hsa-miR-5010-5p	PAR-CLIP	24398324
MIRT484598	hsa-miR-4447	PAR-CLIP	24398324
MIRT484597	hsa-miR-4472	PAR-CLIP	24398324
MIRT484596	hsa-miR-1275	PAR-CLIP	24398324
MIRT484595	hsa-miR-4665-5p	PAR-CLIP	24398324
MIRT484629	hsa-miR-4779	PAR-CLIP	23592263
MIRT484628	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT484624	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT484623	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT484616	hsa-miR-4481	PAR-CLIP	23592263
MIRT484614	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT484615	hsa-miR-4533	PAR-CLIP	23592263
MIRT484613	hsa-miR-765	PAR-CLIP	23592263
MIRT484612	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT484611	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT484610	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT484609	hsa-miR-4271	PAR-CLIP	23592263
MIRT484608	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT484607	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT484606	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT484605	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT484604	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT484602	hsa-miR-5698	PAR-CLIP	23592263
MIRT484603	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT484601	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT484600	hsa-miR-4525	PAR-CLIP	23592263
MIRT484599	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT484598	hsa-miR-4447	PAR-CLIP	23592263
MIRT484597	hsa-miR-4472	PAR-CLIP	23592263
MIRT484596	hsa-miR-1275	PAR-CLIP	23592263
MIRT484595	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT484594	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT484631	hsa-miR-4428	PAR-CLIP	23592263
MIRT484630	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT484629	hsa-miR-4779	PAR-CLIP	23592263
MIRT484628	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT484627	hsa-miR-1321	PAR-CLIP	23592263
MIRT484626	hsa-miR-4739	PAR-CLIP	23592263
MIRT484625	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT484624	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT484623	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT484622	hsa-miR-4419a	PAR-CLIP	23592263
MIRT484621	hsa-miR-4510	PAR-CLIP	23592263
MIRT484620	hsa-miR-6127	PAR-CLIP	23592263
MIRT484619	hsa-miR-6129	PAR-CLIP	23592263
MIRT484618	hsa-miR-6130	PAR-CLIP	23592263
MIRT484617	hsa-miR-6133	PAR-CLIP	23592263
MIRT484616	hsa-miR-4481	PAR-CLIP	23592263
MIRT484614	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT484615	hsa-miR-4533	PAR-CLIP	23592263
MIRT484613	hsa-miR-765	PAR-CLIP	23592263
MIRT484612	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT484611	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT484610	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT484609	hsa-miR-4271	PAR-CLIP	23592263
MIRT484608	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT484607	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT484606	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT484605	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT484604	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT484602	hsa-miR-5698	PAR-CLIP	23592263
MIRT484603	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT484601	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT484600	hsa-miR-4525	PAR-CLIP	23592263
MIRT484599	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT484598	hsa-miR-4447	PAR-CLIP	23592263
MIRT484597	hsa-miR-4472	PAR-CLIP	23592263
MIRT484596	hsa-miR-1275	PAR-CLIP	23592263
MIRT484595	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT484594	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT635884	hsa-miR-10a-3p	HITS-CLIP	27418678
MIRT635884	hsa-miR-10a-3p	HITS-CLIP	27418678
MIRT635884	hsa-miR-10a-3p	HITS-CLIP	27418678
MIRT635879	hsa-miR-302c-5p	HITS-CLIP	27418678
MIRT635879	hsa-miR-302c-5p	HITS-CLIP	27418678
MIRT635879	hsa-miR-302c-5p	HITS-CLIP	27418678
MIRT635883	hsa-miR-495-3p	HITS-CLIP	27418678
MIRT635883	hsa-miR-495-3p	HITS-CLIP	27418678
MIRT635883	hsa-miR-495-3p	HITS-CLIP	27418678
MIRT635878	hsa-miR-552-5p	HITS-CLIP	27418678
MIRT635878	hsa-miR-552-5p	HITS-CLIP	27418678
MIRT635878	hsa-miR-552-5p	HITS-CLIP	27418678
MIRT635881	hsa-miR-5688	HITS-CLIP	27418678
MIRT635881	hsa-miR-5688	HITS-CLIP	27418678
MIRT635881	hsa-miR-5688	HITS-CLIP	27418678
MIRT635882	hsa-miR-7-1-3p	HITS-CLIP	27418678
MIRT635882	hsa-miR-7-1-3p	HITS-CLIP	27418678
MIRT635882	hsa-miR-7-1-3p	HITS-CLIP	27418678
MIRT635880	hsa-miR-7-2-3p	HITS-CLIP	27418678
MIRT635880	hsa-miR-7-2-3p	HITS-CLIP	27418678
MIRT635880	hsa-miR-7-2-3p	HITS-CLIP	27418678
MIRT612491	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	19536157
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT635884	hsa-miR-10a-3p	HITS-CLIP	23824327
MIRT635883	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT635881	hsa-miR-5688	HITS-CLIP	23824327
MIRT635882	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT635880	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT635879	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT635878	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT621100	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT621100	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT621099	hsa-miR-665	HITS-CLIP	23824327
MIRT621098	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT621097	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT621096	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT621095	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT621094	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT621100	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT621099	hsa-miR-665	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT635884	hsa-miR-10a-3p	HITS-CLIP	23824327
MIRT635883	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT635881	hsa-miR-5688	HITS-CLIP	23824327
MIRT635882	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT635880	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT635879	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT635878	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT621100	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT621099	hsa-miR-665	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT621096	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT621095	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT621100	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT621099	hsa-miR-665	HITS-CLIP	23824327
MIRT621098	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT621097	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT621096	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT621095	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT621094	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT612492	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT612491	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT612490	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT612489	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT612488	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT484631	hsa-miR-4428	PAR-CLIP	20371350
MIRT484630	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT484629	hsa-miR-4779	PAR-CLIP	20371350
MIRT484627	hsa-miR-1321	PAR-CLIP	20371350
MIRT484626	hsa-miR-4739	PAR-CLIP	20371350
MIRT484625	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT484624	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT484623	hsa-miR-1296-3p	PAR-CLIP	20371350
MIRT484622	hsa-miR-4419a	PAR-CLIP	20371350
MIRT484621	hsa-miR-4510	PAR-CLIP	20371350
MIRT484620	hsa-miR-6127	PAR-CLIP	20371350
MIRT484619	hsa-miR-6129	PAR-CLIP	20371350
MIRT484618	hsa-miR-6130	PAR-CLIP	20371350
MIRT484617	hsa-miR-6133	PAR-CLIP	20371350
MIRT484616	hsa-miR-4481	PAR-CLIP	20371350
MIRT484614	hsa-miR-4745-5p	PAR-CLIP	20371350
MIRT484615	hsa-miR-4533	PAR-CLIP	20371350
MIRT484613	hsa-miR-765	PAR-CLIP	20371350
MIRT484612	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT484611	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT484610	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT484609	hsa-miR-4271	PAR-CLIP	20371350
MIRT484608	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT484607	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT484606	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT484605	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT484604	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT484602	hsa-miR-5698	PAR-CLIP	20371350
MIRT484603	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT484601	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT484600	hsa-miR-4525	PAR-CLIP	20371350
MIRT484599	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT484598	hsa-miR-4447	PAR-CLIP	20371350
MIRT484597	hsa-miR-4472	PAR-CLIP	20371350
MIRT484596	hsa-miR-1275	PAR-CLIP	20371350
MIRT484595	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT484594	hsa-miR-6758-5p	PAR-CLIP	20371350
MIRT484631	hsa-miR-4428	PAR-CLIP	24398324
MIRT484594	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT484629	hsa-miR-4779	PAR-CLIP	24398324
MIRT484627	hsa-miR-1321	PAR-CLIP	24398324
MIRT484626	hsa-miR-4739	PAR-CLIP	24398324
MIRT484625	hsa-miR-4756-5p	PAR-CLIP	24398324
MIRT484624	hsa-miR-6783-5p	PAR-CLIP	24398324
MIRT484623	hsa-miR-1296-3p	PAR-CLIP	24398324
MIRT484622	hsa-miR-4419a	PAR-CLIP	24398324
MIRT484621	hsa-miR-4510	PAR-CLIP	24398324
MIRT484620	hsa-miR-6127	PAR-CLIP	24398324
MIRT484619	hsa-miR-6129	PAR-CLIP	24398324
MIRT484618	hsa-miR-6130	PAR-CLIP	24398324
MIRT484617	hsa-miR-6133	PAR-CLIP	24398324
MIRT484616	hsa-miR-4481	PAR-CLIP	24398324
MIRT484614	hsa-miR-4745-5p	PAR-CLIP	24398324
MIRT484615	hsa-miR-4533	PAR-CLIP	24398324
MIRT484613	hsa-miR-765	PAR-CLIP	24398324
MIRT484612	hsa-miR-4747-5p	PAR-CLIP	24398324
MIRT484611	hsa-miR-5196-5p	PAR-CLIP	24398324
MIRT484610	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT484609	hsa-miR-4271	PAR-CLIP	24398324
MIRT484608	hsa-miR-4725-3p	PAR-CLIP	24398324
MIRT484607	hsa-miR-6780b-5p	PAR-CLIP	24398324
MIRT484606	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT484605	hsa-miR-625-5p	PAR-CLIP	24398324
MIRT484604	hsa-miR-4723-5p	PAR-CLIP	24398324
MIRT484602	hsa-miR-5698	PAR-CLIP	24398324
MIRT484603	hsa-miR-6870-5p	PAR-CLIP	24398324
MIRT484601	hsa-miR-7111-5p	PAR-CLIP	24398324
MIRT484600	hsa-miR-4525	PAR-CLIP	24398324
MIRT484599	hsa-miR-5010-5p	PAR-CLIP	24398324
MIRT484598	hsa-miR-4447	PAR-CLIP	24398324
MIRT484597	hsa-miR-4472	PAR-CLIP	24398324
MIRT484596	hsa-miR-1275	PAR-CLIP	24398324
MIRT484595	hsa-miR-4665-5p	PAR-CLIP	24398324
MIRT484629	hsa-miR-4779	PAR-CLIP	23592263
MIRT484628	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT484624	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT484623	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT484616	hsa-miR-4481	PAR-CLIP	23592263
MIRT484614	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT484615	hsa-miR-4533	PAR-CLIP	23592263
MIRT484613	hsa-miR-765	PAR-CLIP	23592263
MIRT484612	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT484611	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT484610	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT484609	hsa-miR-4271	PAR-CLIP	23592263
MIRT484608	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT484607	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT484606	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT484605	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT484604	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT484602	hsa-miR-5698	PAR-CLIP	23592263
MIRT484603	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT484601	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT484600	hsa-miR-4525	PAR-CLIP	23592263
MIRT484599	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT484598	hsa-miR-4447	PAR-CLIP	23592263
MIRT484597	hsa-miR-4472	PAR-CLIP	23592263
MIRT484596	hsa-miR-1275	PAR-CLIP	23592263
MIRT484595	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT484594	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT484631	hsa-miR-4428	PAR-CLIP	23592263
MIRT484630	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT484629	hsa-miR-4779	PAR-CLIP	23592263
MIRT484628	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT484627	hsa-miR-1321	PAR-CLIP	23592263
MIRT484626	hsa-miR-4739	PAR-CLIP	23592263
MIRT484625	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT484624	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT484623	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT484622	hsa-miR-4419a	PAR-CLIP	23592263
MIRT484621	hsa-miR-4510	PAR-CLIP	23592263
MIRT484620	hsa-miR-6127	PAR-CLIP	23592263
MIRT484619	hsa-miR-6129	PAR-CLIP	23592263
MIRT484618	hsa-miR-6130	PAR-CLIP	23592263
MIRT484617	hsa-miR-6133	PAR-CLIP	23592263
MIRT484616	hsa-miR-4481	PAR-CLIP	23592263
MIRT484614	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT484615	hsa-miR-4533	PAR-CLIP	23592263
MIRT484613	hsa-miR-765	PAR-CLIP	23592263
MIRT484612	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT484611	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT484610	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT484609	hsa-miR-4271	PAR-CLIP	23592263
MIRT484608	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT484607	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT484606	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT484605	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT484604	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT484602	hsa-miR-5698	PAR-CLIP	23592263
MIRT484603	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT484601	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT484600	hsa-miR-4525	PAR-CLIP	23592263
MIRT484599	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT484598	hsa-miR-4447	PAR-CLIP	23592263
MIRT484597	hsa-miR-4472	PAR-CLIP	23592263
MIRT484596	hsa-miR-1275	PAR-CLIP	23592263
MIRT484595	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT484594	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT1350384	hsa-miR-122	CLIP-seq
MIRT1350385	hsa-miR-1243	CLIP-seq
MIRT1350386	hsa-miR-1252	CLIP-seq
MIRT1350387	hsa-miR-1273d	CLIP-seq
MIRT1350388	hsa-miR-147	CLIP-seq
MIRT1350389	hsa-miR-1972	CLIP-seq
MIRT1350390	hsa-miR-200b	CLIP-seq
MIRT1350391	hsa-miR-200c	CLIP-seq
MIRT1350392	hsa-miR-3138	CLIP-seq
MIRT1350393	hsa-miR-3150b-3p	CLIP-seq
MIRT1350394	hsa-miR-3153	CLIP-seq
MIRT1350395	hsa-miR-342-5p	CLIP-seq
MIRT1350396	hsa-miR-3654	CLIP-seq
MIRT1350397	hsa-miR-3662	CLIP-seq
MIRT1350398	hsa-miR-3911	CLIP-seq
MIRT1350399	hsa-miR-429	CLIP-seq
MIRT1350400	hsa-miR-4311	CLIP-seq
MIRT1350401	hsa-miR-4505	CLIP-seq
MIRT1350402	hsa-miR-4639-5p	CLIP-seq
MIRT1350403	hsa-miR-4646-5p	CLIP-seq
MIRT1350404	hsa-miR-4651	CLIP-seq
MIRT1350405	hsa-miR-4664-5p	CLIP-seq
MIRT1350406	hsa-miR-4668-5p	CLIP-seq
MIRT1350407	hsa-miR-4717-5p	CLIP-seq
MIRT1350408	hsa-miR-4721	CLIP-seq
MIRT1350409	hsa-miR-4731-5p	CLIP-seq
MIRT1350410	hsa-miR-4784	CLIP-seq
MIRT1350411	hsa-miR-4800-5p	CLIP-seq
MIRT1350412	hsa-miR-495	CLIP-seq
MIRT1350413	hsa-miR-520d-5p	CLIP-seq
MIRT1350414	hsa-miR-524-5p	CLIP-seq
MIRT1350415	hsa-miR-574-5p	CLIP-seq
MIRT1350416	hsa-miR-608	CLIP-seq
MIRT1350417	hsa-miR-644	CLIP-seq
MIRT1350418	hsa-miR-656	CLIP-seq
MIRT1350419	hsa-miR-875-3p	CLIP-seq
MIRT1350412	hsa-miR-495	CLIP-seq
MIRT1350412	hsa-miR-495	CLIP-seq
MIRT1350412	hsa-miR-495	CLIP-seq
MIRT2103838	hsa-miR-548c-3p	CLIP-seq
MIRT2394566	hsa-miR-561	CLIP-seq
MIRT1350412	hsa-miR-495	CLIP-seq
MIRT2459424	hsa-miR-4755-5p	CLIP-seq
MIRT2459425	hsa-miR-642a	CLIP-seq
MIRT2459426	hsa-miR-642b	CLIP-seq
MIRT2459427	hsa-miR-766	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PAX6	Activation	11554737
PROX1	Activation	11554737

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	18836447
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001222	Function	Transcription corepressor binding	IPI	12441302, 14973488
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001654	Process	Eye development	IBA	21873635
GO:0001654	Process	Eye development	IDA	18791198
GO:0002070	Process	Epithelial cell maturation	ISS
GO:0002088	Process	Lens development in camera-type eye	ISS
GO:0003404	Process	Optic vesicle morphogenesis	ISS
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	12543801
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005667	Component	Transcription regulator complex	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007420	Process	Brain development	IBA	21873635
GO:0007601	Process	Visual perception	TAS	10369266
GO:0009946	Process	Proximal/distal axis specification	ISS
GO:0014016	Process	Neuroblast differentiation	ISS
GO:0021537	Process	Telencephalon development	ISS
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IDA	18791198
GO:0021846	Process	Cell proliferation in forebrain	ISS
GO:0021978	Process	Telencephalon regionalization	ISS
GO:0021983	Process	Pituitary gland development	ISS
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	18791198
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0061074	Process	Regulation of neural retina development	ISS
GO:0070306	Process	Lens fiber cell differentiation	ISS
GO:0097402	Process	Neuroblast migration	ISS
GO:1901987	Process	Regulation of cell cycle phase transition	ISS
GO:1902692	Process	Regulation of neuroblast proliferation	ISS
GO:1902742	Process	Apoptotic process involved in development	ISS
GO:1990086	Process	Lens fiber cell apoptotic process	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000177	Process	Regulation of neural precursor cell proliferation	ISS

Other IDs

• MIM: 603714
• HGNC: 10889
• e!Ensembl: ENSG00000138083

Protein

• UniProt ID: O95343
• Protein name: Homeobox protein SIX3 (Sine oculis homeobox homolog 3)
• Protein function: Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitan
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16878	SIX1_SD	87 → 201	Transcriptional regulator, SIX1, N-terminal SD domain	Domain
  PF00046	Homeodomain	207 → 263	Homeodomain	Domain

• Sequence:

  MVFRSPLDLYSSHFLLPNFADSHHRSILLASSGGGNGAGGGGGAGGGSGGGNGAGGGGAG
  GAGGGGGGGSRAPPEELSMFQLPTLNFSPEQVASVCETLEETGDIERLGRFLWSLPVAPG
  ACEAINKHESILRARAVVAFHTGNFRDLYHILENHKFTKESHGKLQAMWLEAHYQEAEKL
  RGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTRSLLREWYLQDPYPNPSKKRELA
  QATGLTPTQVGNWFKNRRQRDRAAAAKNRLQHQAIGPSGMRSLAEPGCPTHGSAESPSTA
  ASPTTSVSSLTERADTGTSILSVTSSDSECDV

• Sequence length: 332

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
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
Diabetes insipidus	Diabetes Insipidus	rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757, rs104894758, rs104894759, rs104894760, rs121964892, rs104894328, rs104894329, rs1565636541, rs104894334, rs104894330, rs104894331, rs104894335, rs104894332, rs104894333, rs104894337, rs1565637179, rs1565637189, rs28931580, rs104894338, rs104894339, rs104894341, rs796052096, rs886040961, rs370879515, rs1057518723, rs1064797077, rs1131690792, rs1557100304, rs772201159, rs149659001, rs770810694, rs1557100594, rs1603282342, rs749468605
Hemangioma	Hemangioma	rs119475040, rs121917766
Holoprosencephaly	Holoprosencephaly, HOLOPROSENCEPHALY 2 (disorder), HOLOPROSENCEPHALY 4 (disorder), HOLOPROSENCEPHALY 3, HOLOPROSENCEPHALY 5	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	10369266, 18791198, 20531442, 15523651, 15221788, 21976454, 10369266, 17001667, 11039582
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645	10369266
Mental retardation	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
Microform holoprosencephaly	Microform holoprosencephaly	rs876661323, rs876661324, rs876661325, rs876661326, rs876661327, rs876661333
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Schizencephaly	Schizencephaly, Familial schizencephaly, Acquired schizencephaly	rs2133969658, rs1564751655, rs1411887961, rs755549724, rs387906867	20157829, 18791198
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	rs876661334, rs876661329, rs876661328	10369266
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288

Unknown
Disease name	Disease term	dbSNP ID	References
Alobar holoprosencephaly	Alobar Holoprosencephaly		10369266
Ambiguous genitalia	Ambiguous Genitalia	rs782562963
Arrhinencephaly	Arhinencephaly		10369266
Arrhinia	Arrhinia
Cerebellar hypoplasia	Cerebellar Hypoplasia
Cerebral cortical atrophy	Cerebral cortical atrophy
Choanal atresia	Choanal Atresia
Complete atrioventricular canal defect	Common ventricle
Congenital coloboma of iris	Congenital coloboma of iris
Congenital hypoplasia of penis	Congenital hypoplasia of penis
Cyclocephaly	Cyclocephaly
Duodenal atresia	Duodenal atresia
Dwarfism	Dwarfism
Fused incisors	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Liver neoplasms	Liver neoplasms		19233941
Liver cancer	Malignant neoplasm of liver		19233941
Midline interhemispheric variant of holoprosencephaly	Midline interhemispheric variant of holoprosencephaly
Panhypopituitarism	Panhypopituitarism
Renal agenesis	Congenital absence of kidneys syndrome
Septopreoptic holoprosencephaly	Septopreoptic holoprosencephaly
Single ventricle defect	Single Ventricle Defect
Strabismus	Strabismus
Submucosal cleft palate	Submucous cleft of hard palate