SIX3 (SIX homeobox 3)

Gene

• Entrez ID: 6496
• Gene name: SIX homeobox 3
• Gene symbol: SIX3
• Synonyms (NCBI Gene): 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
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	18836447
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001222	Function	Transcription corepressor binding	IEA
GO:0001222	Function	Transcription corepressor binding	IPI	12441302, 14973488
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001654	Process	Eye development	IBA
GO:0001654	Process	Eye development	IDA	18791198
GO:0001654	Process	Eye development	IEA
GO:0002070	Process	Epithelial cell maturation	IEA
GO:0002070	Process	Epithelial cell maturation	ISS
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0002088	Process	Lens development in camera-type eye	ISS
GO:0003404	Process	Optic vesicle morphogenesis	IEA
GO:0003404	Process	Optic vesicle morphogenesis	ISS
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12543801
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0007420	Process	Brain development	IBA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	TAS	10369266
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10369266
GO:0008406	Process	Gonad development	IEA
GO:0009946	Process	Proximal/distal axis specification	IEA
GO:0009946	Process	Proximal/distal axis specification	ISS
GO:0014016	Process	Neuroblast differentiation	IEA
GO:0014016	Process	Neuroblast differentiation	ISS
GO:0021536	Process	Diencephalon development	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0021537	Process	Telencephalon development	ISS
GO:0021797	Process	Forebrain anterior/posterior pattern specification	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IDA	18791198
GO:0021846	Process	Cell proliferation in forebrain	IEA
GO:0021846	Process	Cell proliferation in forebrain	ISS
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0021978	Process	Telencephalon regionalization	ISS
GO:0021983	Process	Pituitary gland development	IEA
GO:0021983	Process	Pituitary gland development	ISS
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	18791198
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048512	Process	Circadian behavior	IEA
GO:0060235	Process	Lens induction in camera-type eye	IEA
GO:0061074	Process	Regulation of neural retina development	IEA
GO:0061074	Process	Regulation of neural retina development	ISS
GO:0070306	Process	Lens fiber cell differentiation	IEA
GO:0070306	Process	Lens fiber cell differentiation	ISS
GO:0097402	Process	Neuroblast migration	IEA
GO:0097402	Process	Neuroblast migration	ISS
GO:1901987	Process	Regulation of cell cycle phase transition	IEA
GO:1901987	Process	Regulation of cell cycle phase transition	ISS
GO:1902692	Process	Regulation of neuroblast proliferation	IEA
GO:1902692	Process	Regulation of neuroblast proliferation	ISS
GO:1902742	Process	Apoptotic process involved in development	IEA
GO:1902742	Process	Apoptotic process involved in development	ISS
GO:1990086	Process	Lens fiber cell apoptotic process	IEA
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	IEA
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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Holoprosencephaly 2	Pathogenic; Likely pathogenic	rs2103641880, rs2466514157, rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs1403385518, rs2466513762, rs387906867, rs753473749, rs1553337688, rs1558420022, rs397515502, rs1666605262	RCV001730118 RCV002819396 RCV000006466 RCV000006467 RCV000006468 RCV000006469 RCV000006472 RCV003508710 RCV003508821 RCV000023328 RCV002248753 RCV000656533 RCV000702708 RCV000055688 RCV001270879	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizencephaly	Pathogenic	rs387906867	RCV000023329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SIX3-related disorder	Likely pathogenic	rs1572624326	RCV003416998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HOLOPROSENCEPHALY	—	CTD, Disgenet, GenCC CTD, Disgenet, GenCC CTD, Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOBAR HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROFORM HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDDLE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMILOBAR HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOPREOPTIC HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Solitary median maxillary central incisor syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired schizencephaly	Schizencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23977152		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23977152		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	CTD_human_DG	10369266		★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alobar holoprosencephaly	Alobar Holoprosencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	11826019	Associate	★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	CTD_human_DG	10369266		★☆☆☆☆ Found in Text Mining only
Arrhinia	Arrhinia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	28595628		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	33051600	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27399099, 29463994		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29463994	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	23977152		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23977152	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29463994	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23977152		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12543801, 15262426		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	12543801		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19723660	Associate	★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	35951005	Associate	★☆☆☆☆ Found in Text Mining only
Common ventricle	Complete Atrioventricular Canal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	BEFREE	11039582		★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29621232, 30102368, 33893274	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30102368		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30672777		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30672777		★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	12543801, 15262426		★☆☆☆☆ Found in Text Mining only
Familial schizencephaly	Schizencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28643150		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32051553	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28643150		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21962230	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28643150		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	10369266, 10710230, 11039582, 11471164, 11479728, 15523651, 16475235, 17001667, 17001669, 17584896, 18791198, 18836447, 19346217, 19353631, 19606496, 20066439, 20104604, 20157829, 21940735, 21995818, 22216011, 22791840, 27770010, 28093895, 28670735, 8824878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	CTD_human_DG	10369266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	LHGDN	15221788, 15635066, 18836447		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	Pubtator	16199538, 19346217, 19353631, 19431187, 20157829, 20531442, 21940735, 21976454, 21995818, 22310223, 23276570, 27363716, 28670735, 29333838, 35951005	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY 2 (disorder)	Holoprosencephaly	GENOMICS_ENGLAND_DG	10369266, 18791198, 21976454		★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 2 (disorder)	Holoprosencephaly	UNIPROT_DG	10369266, 15221788, 15523651, 17001667, 18791198, 20531442		★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 2 (disorder)	Holoprosencephaly	BEFREE	10415461, 10512683		★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 2 (disorder)	Holoprosencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 2 (disorder)	Holoprosencephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 3	Holoprosencephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 4 (disorder)	Holoprosencephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 5	Holoprosencephaly	GENOMICS_ENGLAND_DG	11039582		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27133132		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	27133132	Associate	★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	18775421		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	35951005	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	BEFREE	29589282		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29736313		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	19233941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar Holoprosencephaly	Lobar Holoprosencephaly	CTD_human_DG	10369266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar Holoprosencephaly	Lobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar holoprosencephaly	Lobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	23977152, 33264103	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	27019633	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27399099, 29463994		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30672777		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19233941		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23977152		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Midline interhemispheric variant of holoprosencephaly	Midline Interhemispheric Variant Of Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya Disease	Moyamoya Disease	BEFREE	16475235		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	16475235		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12543801, 28595628		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	26317783		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27315542		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	23476075		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	23476075		★☆☆☆☆ Found in Text Mining only
Schizencephaly	Schizencephaly	GENOMICS_ENGLAND_DG	18791198		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizencephaly	Schizencephaly	BEFREE	20157829		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizencephaly	Schizencephaly	UNIPROT_DG	20157829		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizencephaly	Schizencephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizencephaly	Schizencephaly	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Schizophrenia	Pubtator	28972157	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	CTD_human_DG	10369266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septopreoptic holoprosencephaly	Septopreoptic Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Ventricle Defect	Single Ventricle Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	BEFREE	11471164		★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	30261489		★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	26317783	Associate	★☆☆☆☆ Found in Text Mining only