PAX6 (paired box 6)

Gene

• Entrez ID: 5080
• Gene name: Paired box 6
• Gene symbol: PAX6
• Synonyms (NCBI Gene): AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR
• Chromosome: 11
• Chromosome location: 11p13
• Summary: This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121907912	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs121907913	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907914	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs121907915	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs121907916	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121907917	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs121907918	G>A,T	Uncertain-significance, pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907919	A>T	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907920	C>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907921	A>T	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907923	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907924	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121907925	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121907927	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121907928	G>A,C,T	Pathogenic	Synonymous variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121907929	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs141873759	G>A,T	Benign, pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs151086737	G>A,T	Pathogenic	Stop gained, upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs397514640	G>A,C	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs398123295	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, splice donor variant, intron variant
rs398123296	C>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs587776571	T>A	Pathogenic	Splice acceptor variant
rs587776572	C>G	Pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant
rs587778874	C>A	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs727504064	G>A,T	Pathogenic, uncertain-significance	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs757259413	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs759557055	C>A,G,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs760490431	G>A,C	Pathogenic	Genic upstream transcript variant, stop gained, synonymous variant, intron variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs763807196	G>A	Likely-pathogenic	Genic upstream transcript variant, synonymous variant, intron variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs769095184	C>G,T	Likely-pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs773606401	G>-,GG	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs775355156	T>A,G	Pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, synonymous variant, stop gained, coding sequence variant, 5 prime UTR variant
rs786205467	G>A,C	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs794726661	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs797044627	->TGGTTGGTAGACACTG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs864309686	A>T	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs878852979	A>T	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs886041221	T>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886041222	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886041679	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886042838	C>-	Pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886043350	C>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs886044223	G>C,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, intron variant
rs886044289	C>G	Pathogenic, likely-pathogenic	Missense variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs1057517780	C>-,CC	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517782	A>C	Pathogenic	Intron variant, genic upstream transcript variant, missense variant, splice donor variant, coding sequence variant
rs1057517783	C>A,G,T	Pathogenic	Splice donor variant
rs1057517784	A>T	Likely-pathogenic	Intron variant
rs1057517785	G>A,C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1057520755	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1057523821	G>C	Pathogenic	Intron variant
rs1064793223	G>A	Uncertain-significance, likely-pathogenic	Intron variant, upstream transcript variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1131691426	C>-	Pathogenic	Genic downstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1131691549	A>G	Pathogenic	Splice donor variant
rs1131691570	TCAC>-	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, splice donor variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692282	T>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant, splice acceptor variant
rs1131692284	T>C,G	Pathogenic	Initiator codon variant, intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1131692285	C>A,G	Pathogenic, likely-pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, stop gained, missense variant, 5 prime UTR variant, coding sequence variant
rs1131692286	C>-	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692287	AA>G	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692289	T>C,G	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1131692290	T>A,C	Pathogenic, likely-pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs1131692291	G>C	Likely-pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1131692292	A>C,G	Likely-pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1131692293	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1131692294	T>G	Likely-pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1131692295	C>A	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131692296	C>A	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131692297	G>A	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131692298	->AAGA	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692299	AAGCAA>TGAAC	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692300	C>T	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131692301	G>-	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692302	TTTATTG>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692303	T>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1131692304	G>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1131692305	CCCGT>GTTCCGG	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1131692306	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1131692307	G>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1131692308	G>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1131692309	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1131692310	C>G	Pathogenic	Intron variant, splice acceptor variant
rs1131692312	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1131692313	T>-,TT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1131692314	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1131692315	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1131692316	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1131692317	CTGG>-	Pathogenic	Genic downstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1329112134	G>A,T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant, intron variant, non coding transcript variant, synonymous variant
rs1357628990	C>-,CC,CCC	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, non coding transcript variant, frameshift variant, intron variant
rs1388158419	G>A,C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, missense variant, synonymous variant
rs1554982609	->GAGTA	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554982615	TCTGGCTGGGG>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554983140	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554983229	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554983238	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554983251	T>G	Pathogenic	Splice acceptor variant
rs1554983571	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1554983577	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1554983586	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1554984996	C>-	Pathogenic	Coding sequence variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554985024	C>-	Pathogenic	Coding sequence variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554985028	C>T	Pathogenic	Stop gained, coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554985100	G>C,T	Pathogenic, likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554985282	T>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant, 5 prime UTR variant
rs1554985285	->A	Pathogenic	5 prime UTR variant, upstream transcript variant, intron variant, splice donor variant, genic upstream transcript variant
rs1554985305	C>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1554985320	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1554985335	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554985378	->GAGT	Pathogenic	5 prime UTR variant, coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554985430	G>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554985709	ACCTGCAGAATTC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, splice donor variant, genic upstream transcript variant
rs1554985714	C>G,T	Pathogenic	Coding sequence variant, missense variant, intron variant, splice donor variant, genic upstream transcript variant
rs1554985716	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1554985722	C>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1554985737	CACGGCCG>-	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554986754	C>A,T	Pathogenic	Initiator codon variant, 5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1554986858	AA>-,AAA	Likely-benign, likely-pathogenic	5 prime UTR variant, upstream transcript variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1565200471	->CT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1565238322	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1565245598	->C,CC	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1565245835	CGCTG>GGTT	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1565246499	C>G	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs1565264372	ACTT>CA	Pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1565264387	C>-	Pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1565264399	TT>-	Pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1565277245	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1592369500	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs1592369895	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs1592370052	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs1592370265	C>T	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1592409736	->AGGTTATTTGCCA	Pathogenic	Inframe insertion, coding sequence variant, stop gained, non coding transcript variant
rs1592409876	ATTT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592410582	GT>-	Pathogenic	Inframe indel, coding sequence variant, stop gained, non coding transcript variant
rs1592411896	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592412022	C>G,T	Pathogenic	Splice acceptor variant
rs1592414464	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592415563	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1592415625	CT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592415745	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592415868	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592415958	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592416305	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592416453	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1592416538	C>G,T	Pathogenic	Splice acceptor variant
rs1592420967	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1592421398	CA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1592421981	A>G	Likely-pathogenic	Intron variant
rs1592422097	G>C	Likely-pathogenic	Intron variant
rs1592433022	T>C	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1592433545	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1592433606	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592434096	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1592435423	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1592435527	CTGGAACAAAAAGAAT>-	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, intron variant, splice acceptor variant
rs1592435632	C>T	Pathogenic	Splice acceptor variant
rs1592435653	T>C	Pathogenic	Splice acceptor variant
rs1592530126	A>C	Pathogenic	Upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1592530379	G>-	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1592530521	->T	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1592531953	C>A,T	Likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1592532084	CT>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1592532169	->T	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1592532561	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1592532580	T>C	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1592542002	C>T	Likely-pathogenic	Upstream transcript variant, intron variant, 5 prime UTR variant, genic upstream transcript variant
rs1592542060	ACGCTT>-	Pathogenic	Upstream transcript variant, splice donor variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592542273	CTTGGTATG>-	Likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, inframe deletion, intron variant
rs1592542343	ATGTTAT>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592542615	AGACC>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592542705	G>T	Likely-pathogenic	Upstream transcript variant, synonymous variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592542942	TC>CTG	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592543032	C>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592543499	AAAGATGGAC>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592543841	C>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592544327	T>-	Pathogenic	Upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592544553	->T	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592545392	->G	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592545972	A>G	Likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592546024	T>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592546120	T>A	Pathogenic	Upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592546273	A>C	Pathogenic	Upstream transcript variant, splice donor variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1592546340	->CCGTTGGACACCT	Pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, splice acceptor variant
rs1592546566	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1592546589	T>C	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1592562717	AAATGTCGCACGGCCGGG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, inframe deletion, intron variant
rs1592562836	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592562910	A>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592563047	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592563240	->GG	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592563333	->CGGGCCCC	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592563428	G>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592563502	G>TGTGAGCTA	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592563636	C>A,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592563721	G>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592564013	TGGAGTCCGG>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592564157	A>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592564219	CGCCCGTTGAC>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592564366	C>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant, intron variant
rs1592564672	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592564908	T>C	Pathogenic	Intron variant, 5 prime UTR variant, genic upstream transcript variant, splice acceptor variant
rs1592610121	C>G	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant, intron variant
rs1592610205	G>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1592614756	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant, intron variant
rs1592654547	CCTTTATGAGGCA>-	Pathogenic	Upstream transcript variant, splice donor variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, initiator codon variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006925	hsa-miR-10b-5p	Luciferase reporter assay	23034333
MIRT053153	hsa-miR-365a-3p	GFP reporter assay, Western blot	23660406
MIRT438685	hsa-miR-223-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23970099
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay, Western blot	25089088
MIRT438364	hsa-miR-140-5p	Luciferase reporter assay, Western blot	24530397
MIRT438364	hsa-miR-140-5p	Luciferase reporter assay, Western blot	24530397
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay	24185687
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay	24185687
MIRT438685	hsa-miR-223-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23970099
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay, Western blot	25089088
MIRT438364	hsa-miR-140-5p	Luciferase reporter assay, Western blot	24530397
MIRT438364	hsa-miR-140-5p	Luciferase reporter assay, Western blot	24530397
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay	24185687
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay	24185687
MIRT716595	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT716596	hsa-miR-3145-5p	HITS-CLIP	19536157
MIRT716594	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT716593	hsa-miR-6834-3p	HITS-CLIP	19536157
MIRT716592	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT716591	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT716590	hsa-miR-31-3p	HITS-CLIP	19536157
MIRT716589	hsa-miR-3194-3p	HITS-CLIP	19536157
MIRT716588	hsa-miR-488-3p	HITS-CLIP	19536157
MIRT716587	hsa-miR-510-3p	HITS-CLIP	19536157
MIRT497155	hsa-miR-3161	PAR-CLIP	22291592
MIRT497154	hsa-miR-599	PAR-CLIP	22291592
MIRT496217	hsa-miR-3929	PAR-CLIP	22291592
MIRT496216	hsa-miR-4419b	PAR-CLIP	22291592
MIRT496215	hsa-miR-4478	PAR-CLIP	22291592
MIRT496214	hsa-miR-4289	PAR-CLIP	22291592
MIRT496213	hsa-miR-203a-3p	PAR-CLIP	22291592
MIRT496212	hsa-miR-653-5p	PAR-CLIP	22291592
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay, Western blot	26135959
MIRT438195	hsa-miR-7-5p	Luciferase reporter assay, Western blot	26135959
MIRT716588	hsa-miR-488-3p	Luciferase reporter assay, qRT-PCR, Western blot	26738864
MIRT716588	hsa-miR-488-3p	Luciferase reporter assay, qRT-PCR, Western blot	26738864
MIRT735083	hsa-miR-183-3p	Western blotting, Immunoprecipitaion (IP), qRT-PCR, Flow cytometry	32875669
MIRT735085	hsa-miR-96-5p	Western blotting, Immunoprecipitaion (IP), qRT-PCR, Flow cytometry	32875669
MIRT735087	hsa-miR-182-5p	Western blotting, qRT-PCR, Flow cytometry	32875669
MIRT716595	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT716596	hsa-miR-3145-5p	HITS-CLIP	19536157
MIRT716594	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT716593	hsa-miR-6834-3p	HITS-CLIP	19536157
MIRT716592	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT716591	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT716590	hsa-miR-31-3p	HITS-CLIP	19536157
MIRT716589	hsa-miR-3194-3p	HITS-CLIP	19536157
MIRT716588	hsa-miR-488-3p	HITS-CLIP	19536157
MIRT716587	hsa-miR-510-3p	HITS-CLIP	19536157
MIRT497155	hsa-miR-3161	PAR-CLIP	22291592
MIRT497154	hsa-miR-599	PAR-CLIP	22291592
MIRT496217	hsa-miR-3929	PAR-CLIP	22291592
MIRT496216	hsa-miR-4419b	PAR-CLIP	22291592
MIRT496215	hsa-miR-4478	PAR-CLIP	22291592
MIRT496214	hsa-miR-4289	PAR-CLIP	22291592
MIRT496213	hsa-miR-203a-3p	PAR-CLIP	22291592
MIRT496212	hsa-miR-653-5p	PAR-CLIP	22291592
MIRT1215349	hsa-miR-1290	CLIP-seq
MIRT1215350	hsa-miR-2110	CLIP-seq
MIRT1215351	hsa-miR-300	CLIP-seq
MIRT1215352	hsa-miR-3140-3p	CLIP-seq
MIRT1215353	hsa-miR-3150a-3p	CLIP-seq
MIRT1215354	hsa-miR-381	CLIP-seq
MIRT1215355	hsa-miR-4260	CLIP-seq
MIRT1215356	hsa-miR-4450	CLIP-seq
MIRT1215357	hsa-miR-4494	CLIP-seq
MIRT1215358	hsa-miR-4666-3p	CLIP-seq
MIRT1215359	hsa-miR-4778-3p	CLIP-seq
MIRT1215360	hsa-miR-4789-5p	CLIP-seq
MIRT1215361	hsa-miR-499a-5p	CLIP-seq
MIRT1215362	hsa-miR-579	CLIP-seq
MIRT1215363	hsa-miR-664	CLIP-seq
MIRT1215364	hsa-miR-148a	CLIP-seq
MIRT1215365	hsa-miR-148b	CLIP-seq
MIRT1215366	hsa-miR-152	CLIP-seq
MIRT1215367	hsa-miR-298	CLIP-seq
MIRT1215368	hsa-miR-3124-3p	CLIP-seq
MIRT1215369	hsa-miR-3158-5p	CLIP-seq
MIRT1215370	hsa-miR-3944-5p	CLIP-seq
MIRT1215357	hsa-miR-4494	CLIP-seq
MIRT1215371	hsa-miR-4710	CLIP-seq
MIRT1215372	hsa-miR-4789-3p	CLIP-seq
MIRT1215373	hsa-miR-4792	CLIP-seq
MIRT1215374	hsa-miR-489	CLIP-seq
MIRT1215375	hsa-miR-502-5p	CLIP-seq
MIRT1215376	hsa-miR-548a-3p	CLIP-seq
MIRT1215377	hsa-miR-548ae	CLIP-seq
MIRT1215378	hsa-miR-548aj	CLIP-seq
MIRT1215379	hsa-miR-548am	CLIP-seq
MIRT1215380	hsa-miR-548e	CLIP-seq
MIRT1215381	hsa-miR-548f	CLIP-seq
MIRT1215382	hsa-miR-548x	CLIP-seq
MIRT1215383	hsa-miR-218	CLIP-seq
MIRT1215384	hsa-miR-3977	CLIP-seq
MIRT1215385	hsa-miR-4317	CLIP-seq
MIRT1215357	hsa-miR-4494	CLIP-seq
MIRT1215386	hsa-miR-518a-5p	CLIP-seq
MIRT1215387	hsa-miR-527	CLIP-seq
MIRT1215388	hsa-miR-636	CLIP-seq
MIRT2290483	hsa-miR-1179	CLIP-seq
MIRT2290484	hsa-miR-1324	CLIP-seq
MIRT2290485	hsa-miR-1910	CLIP-seq
MIRT2290486	hsa-miR-3137	CLIP-seq
MIRT2290487	hsa-miR-3160-3p	CLIP-seq
MIRT2290488	hsa-miR-376c	CLIP-seq
MIRT2290489	hsa-miR-4269	CLIP-seq
MIRT2290490	hsa-miR-4275	CLIP-seq
MIRT2290491	hsa-miR-4487	CLIP-seq
MIRT2290492	hsa-miR-451b	CLIP-seq
MIRT1215372	hsa-miR-4789-3p	CLIP-seq
MIRT2290493	hsa-miR-495	CLIP-seq
MIRT2290494	hsa-miR-558	CLIP-seq
MIRT2392163	hsa-miR-1184	CLIP-seq
MIRT2392164	hsa-miR-1205	CLIP-seq
MIRT2392165	hsa-miR-1301	CLIP-seq
MIRT1215369	hsa-miR-3158-5p	CLIP-seq
MIRT2392166	hsa-miR-4468	CLIP-seq
MIRT2392167	hsa-miR-4660	CLIP-seq
MIRT2392168	hsa-miR-4663	CLIP-seq
MIRT2392169	hsa-miR-5047	CLIP-seq
MIRT2687199	hsa-miR-132	CLIP-seq
MIRT2687200	hsa-miR-212	CLIP-seq
MIRT2687201	hsa-miR-411	CLIP-seq
MIRT1215376	hsa-miR-548a-3p	CLIP-seq
MIRT1215380	hsa-miR-548e	CLIP-seq
MIRT1215381	hsa-miR-548f	CLIP-seq
MIRT2687202	hsa-miR-606	CLIP-seq
MIRT2687203	hsa-miR-936	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CTCF	Activation	16723452
CTCF	Repression	16723452
CTCF	Unknown	15096508;17122106
FOXA2	Repression	22911885
OTX2	Activation	22085933
SIRT1	Repression	20631301
SOX2	Activation	20739473
SOX2	Repression	20739473
SP1	Unknown	11574690
TFCP2	Activation	11574690

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000132	Process	Establishment of mitotic spindle orientation	IEA
GO:0000785	Component	Chromatin	IDA	20592023
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
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	20592023, 24802670
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000979	Function	RNA polymerase II core promoter 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	IDA	20592023
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:0001221	Function	Transcription coregulator binding	IEA
GO:0001221	Function	Transcription coregulator binding	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	24802670
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001568	Process	Blood vessel development	IMP	7550230
GO:0001654	Process	Eye development	TAS	10747901
GO:0001709	Process	Cell fate determination	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0003002	Process	Regionalization	IEA
GO:0003309	Process	Type B pancreatic cell differentiation	IBA
GO:0003309	Process	Type B pancreatic cell differentiation	IEA
GO:0003322	Process	Pancreatic A cell development	IEA
GO:0003322	Process	Pancreatic A cell development	IMP	20592023
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	10441571
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	10441571, 10747901
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16098226, 21084637, 32296183
GO:0005634	Component	Nucleus	IDA	17291498
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	17291498
GO:0005829	Component	Cytosol	IDA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	IMP	24802670
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007406	Process	Negative regulation of neuroblast proliferation	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	TAS	10747901
GO:0007420	Process	Brain development	IBA
GO:0007420	Process	Brain development	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0007435	Process	Salivary gland morphogenesis	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10441571
GO:0008283	Process	Cell population proliferation	IEA
GO:0009611	Process	Response to wounding	IEP	17982423
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009786	Process	Regulation of asymmetric cell division	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10441571
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	20592023
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0021517	Process	Ventral spinal cord development	IEA
GO:0021517	Process	Ventral spinal cord development	ISS
GO:0021543	Process	Pallium development	IEA
GO:0021778	Process	Oligodendrocyte cell fate specification	IEA
GO:0021796	Process	Cerebral cortex regionalization	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IEA
GO:0021902	Process	Commitment of neuronal cell to specific neuron type in forebrain	IEA
GO:0021905	Process	Forebrain-midbrain boundary formation	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0021986	Process	Habenula development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0030900	Process	Forebrain development	IBA
GO:0030900	Process	Forebrain development	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0032808	Process	Lacrimal gland development	IEA
GO:0033365	Process	Protein localization to organelle	IEA
GO:0035035	Function	Histone acetyltransferase binding	IEA
GO:0035035	Function	Histone acetyltransferase binding	ISS
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042593	Process	Glucose homeostasis	IMP	11756345
GO:0043010	Process	Camera-type eye development	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	20725088
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	20592023
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	20592023
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048505	Process	Regulation of timing of cell differentiation	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0048663	Process	Neuron fate commitment	NAS	17291498
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0050768	Process	Negative regulation of neurogenesis	ISS
GO:0050877	Process	Nervous system process	IEA
GO:0060041	Process	Retina development in camera-type eye	IBA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0061072	Process	Iris morphogenesis	IMP	7550230
GO:0061303	Process	Cornea development in camera-type eye	IMP	7550230
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0070410	Function	Co-SMAD binding	IEA
GO:0070412	Function	R-SMAD binding	IEA
GO:0070412	Function	R-SMAD binding	IPI	17251190
GO:0071837	Function	HMG box domain binding	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	24802670
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	IEA

Other IDs

• MIM: 607108
• HGNC: 8620
• e!Ensembl: ENSG00000007372

Protein

• UniProt ID: P26367
• Protein name: Paired box protein Pax-6 (Aniridia type II protein) (Oculorhombin)
• Protein function: Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common e
• PDB: 2CUE, 6PAX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00292	PAX	4 → 128		Domain
  PF00046	Homeodomain	211 → 267	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Expressed in lymphoblasts. {ECO:0000269|PubMed:7958875}.; TISSUE SPECIFICITY: [Isoform 5a]: Weakly expressed in lymphoblasts. {ECO:0000269|PubMed:7958875}.
• Sequence:

  MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY
  YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV
  SSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ
  EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
  ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP
  QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPT
  SPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR
  LQ

• Sequence length: 422

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells
Maturity onset diabetes of the young

Reactome:

Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Albinism or congenital nystagmus	Pathogenic	rs1057517785	RCV005252874
Aniridia 1	Likely pathogenic; Pathogenic	rs1955943115, rs2134609949, rs2134654635, rs2135047165, rs886044289, rs1237278944, rs2134588361, rs1592369895, rs2135051167, rs2134655427, rs760490431, rs2134656843, rs2134595824, rs2135096558, rs1592531953, rs2134574071, rs2135088191, rs1131692318, rs2134609369, rs398123295, rs1592532580, rs2135086958, rs1950507886, rs2496127907, rs2495166674, rs1565200471, rs2495181137, rs121907912, rs121907915, rs121907913, rs121907914, rs121907916, rs121907917, rs794726661, rs121907918, rs121907919, rs121907920, rs121907922, rs121907924, rs121907927, rs121907928, rs878852979, rs121907929, rs2495066264, rs2496133151, rs759557055, rs2496152990, rs2496289556, rs1592610121, rs2496627345, rs2496291260, rs1592564013, rs2496129091, rs1459535494, rs2495105858, rs1283307441, rs2495167615, rs2495319282, rs2496124596, rs1592366898, rs2496309388, rs2495097530, rs2495969092, rs864309681, rs2496289320, rs1565245598, rs2495965520, rs2494739987, rs1592420967, rs2495149011, rs1592435632, rs2496303235, rs2495061780, rs2494594074, rs886041222, rs886041221, rs886042838, rs2495048635, rs2496302668, rs201439078, rs2494724434, rs2496294637, rs1131692289, rs2496117097, rs2496115864, rs2495180066, rs2495121695, rs374396492, rs2495983908, rs2496306947, rs2495069375, rs2496306498, rs2495056510, rs2495296956, rs2496295153, rs2496626128, rs2495990286, rs2495077510, rs2496002045, rs2496292641, rs2496299328, rs2495975869, rs1057517785, rs1057517783, rs1057517780, rs1057520755, rs1057523821, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554982299, rs1554984996, rs1554985024, rs1329112134, rs1554982609, rs1554985282, rs1554986754, rs1554983586, rs1554985100, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs397514640, rs1554985028, rs1554983577, rs1554985716, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245835, rs1565246499, rs1565238322, rs1592416305, rs1592433640, rs1592563428, rs1592564313, rs1592564672, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592532084, rs1592532169, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs1592545392, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435653, rs1592532561, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1953513506, rs1953896100, rs1953961273, rs1954534591, rs1950522383, rs1953478890, rs1950537152, rs1950629763, rs1953470546, rs1954553083, rs1592542343, rs2135311510	RCV001346239 RCV001381920 RCV001388581 RCV001382739 RCV001388985 RCV003771817 RCV001795880 RCV001917511 RCV001958818 RCV002035231 RCV002037739 RCV001999724 RCV001874944 RCV001966495 RCV001972713 RCV001887044 RCV001939153 RCV001975226 RCV001963082 RCV001963138 RCV001975078 RCV001962494 RCV001976953 RCV001946374 RCV002287279 RCV002291198 RCV000003623 RCV000003624 RCV000003625 RCV000984456 RCV000003628 RCV000003629 RCV000003630 RCV000003631 RCV000003632 RCV000003633 RCV000984410 RCV002512714 RCV000984384 RCV000003642 RCV001246978 RCV000003649 RCV000003650 RCV000003651 RCV000003652 RCV003037377 RCV003062353 RCV003037378 RCV003037379 RCV003062354 RCV003058300 RCV003062355 RCV003062356 RCV003074949 RCV002632616 RCV002807217 RCV002806654 RCV002824883 RCV002815171 RCV002856977 RCV002829659 RCV002846733 RCV002863142 RCV002871967 RCV002867485 RCV002919034 RCV002904211 RCV000984459 RCV003014206 RCV003024031 RCV003028730 RCV003032812 RCV003034880 RCV003051754 RCV003054437 RCV003148366 RCV003326662 RCV003326663 RCV000496007 RCV000496054 RCV000555731 RCV000635404 RCV003387621 RCV004587512 RCV004587513 RCV004587514 RCV004587515 RCV004587516 RCV004587517 RCV004587518 RCV004587519 RCV004587520 RCV003783563 RCV003783564 RCV003783565 RCV003792148 RCV003806768 RCV003805306 RCV003803251 RCV003802350 RCV003802351 RCV003817875 RCV003801616 RCV003815288 RCV003813325 RCV004560325 RCV004555300 RCV000557326 RCV000984443 RCV000496062 RCV001215069 RCV001036942 RCV001865384 RCV000496058 RCV000496022 RCV000495987 RCV000496059 RCV000496021 RCV000495982 RCV000496046 RCV000495995 RCV000496074 RCV000496039 RCV000496078 RCV000496040 RCV000495997 RCV000496057 RCV000496038 RCV000495998 RCV000496020 RCV000495984 RCV000496055 RCV000495994 RCV000496053 RCV000496017 RCV000495990 RCV000496051 RCV000496016 RCV000496066 RCV000496035 RCV000496014 RCV000496075 RCV000496031 RCV000496056 RCV000495996 RCV000496034 RCV000496003 RCV000496029 RCV000496005 RCV000496024 RCV000496060 RCV000496050 RCV000505672 RCV000541782 RCV000533224 RCV000554918 RCV000527030 RCV000548212 RCV000541017 RCV000544207 RCV004586806 RCV003767251 RCV000584805 RCV000584784 RCV000584776 RCV000584828 RCV000584797 RCV000584778 RCV000584820 RCV000033168 RCV002531115 RCV000984413 RCV000635402 RCV000635405 RCV000984460 RCV000677120 RCV000757887 RCV000757888 RCV000757886 RCV000757885 RCV000757884 RCV000687949 RCV000685643 RCV000701816 RCV000754778 RCV000789036 RCV000823497 RCV000803537 RCV000807435 RCV000816858 RCV000815829 RCV000815884 RCV000853307 RCV000984468 RCV000984466 RCV000984467 RCV000984465 RCV000984462 RCV000984461 RCV000984457 RCV000984458 RCV000984455 RCV000984454 RCV000984445 RCV000984446 RCV000984451 RCV000984449 RCV000984441 RCV000984440 RCV000984439 RCV000984438 RCV000984437 RCV000984436 RCV000984434 RCV000984431 RCV000984430 RCV000984427 RCV000984426 RCV000984425 RCV000984423 RCV000984422 RCV000984418 RCV000984416 RCV000984415 RCV000984414 RCV000984412 RCV000984411 RCV000984409 RCV000984408 RCV000984407 RCV000984401 RCV000984399 RCV000984397 RCV000984398 RCV000984396 RCV000984394 RCV000984395 RCV000984393 RCV000984392 RCV000984391 RCV000984390 RCV000984388 RCV000984387 RCV000984385 RCV000984383 RCV000984382 RCV000984381 RCV000984380 RCV000984379 RCV000984378 RCV000984372 RCV000984366 RCV000984371 RCV000984370 RCV000984369 RCV000984368 RCV000984365 RCV000984361 RCV000984363 RCV000984362 RCV000984360 RCV000984359 RCV000984358 RCV000984357 RCV000984354 RCV000984356 RCV000984355 RCV000984352 RCV000984350 RCV000984464 RCV000984453 RCV000984448 RCV000984447 RCV000984444 RCV000984442 RCV000984432 RCV000984433 RCV000984429 RCV000984428 RCV000984419 RCV000984421 RCV000984420 RCV000984406 RCV000984405 RCV000984404 RCV000984402 RCV000984375 RCV000984374 RCV000984376 RCV000984373 RCV000984351 RCV000984349 RCV000984348 RCV001045981 RCV001036028 RCV001061424 RCV001061758 RCV001213235 RCV001212207 RCV001229734 RCV001237982 RCV001239657 RCV001239061 RCV001250256 RCV001449888 RCV000707094
Aniridia, atypical	Likely pathogenic	rs121907919	RCV000003636
Anterior segment dysgenesis	Likely pathogenic; Pathogenic	rs587778874	RCV001200041
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES	Pathogenic	rs121907921	RCV000003638
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE	Likely pathogenic; Pathogenic	rs121907913	RCV000003627
Autosomal dominant keratitis	Pathogenic	rs587776571	RCV001804148
Cataracts, congenital, with late-onset corneal dystrophy	Pathogenic	rs121907915	RCV000003626
Coloboma of optic nerve	Pathogenic	rs121907923	RCV000003643
Coloboma, ocular, autosomal dominant	Likely pathogenic; Pathogenic	rs121907913, rs121907925, rs2496291260, rs2495123636, rs2496002747, rs2496152181, rs2496151517, rs2496299328, rs397514640	RCV003883463 RCV003883461 RCV003883472 RCV003883473 RCV003883474 RCV003883475 RCV003883476 RCV003883477 RCV003883478 RCV003883464
Congenital aniridia	Pathogenic	rs2496307620, rs2496003605, rs2495062112, rs1592610121	RCV005420428 RCV005420429 RCV005420430 RCV005420276
Developmental cataract	Pathogenic; Likely pathogenic	rs864309681, rs864309686, rs1554985722	RCV000203337 RCV000203333 RCV000603782
Foveal hypoplasia 1	Likely pathogenic; Pathogenic	rs121907918, rs121907922, rs587776572, rs397514640	RCV000003635 RCV005234778 RCV000003648 RCV001249825
Foveal hypoplasia 1 with cataract	Pathogenic	rs121907920	RCV000003637
Foveal hypoplasia 1 with or without anterior segment anomalies	Pathogenic	rs121907921	RCV000128793
Hypertelorism	Likely pathogenic; Pathogenic	rs121907922	RCV000785745
Irido-corneo-trabecular dysgenesis	Likely pathogenic; Pathogenic	rs1955943115, rs2134609949, rs2134654635, rs2135047165, rs886044289, rs1237278944, rs1592369895, rs2135051167, rs2134655427, rs760490431, rs2134656843, rs2134595824, rs2135096558, rs1592531953, rs2134574071, rs2135088191, rs1131692318, rs2134609369, rs398123295, rs1592532580, rs2135086958, rs1950507886, rs121907914, rs121907916, rs121907917, rs794726661, rs121907918, rs121907919, rs121907922, rs121907924, rs878852979, rs2495066264, rs2496133151, rs759557055, rs2496152990, rs2496289556, rs1592610121, rs2496627345, rs2496291260, rs1592564013, rs2496129091, rs1459535494, rs2495105858, rs1283307441, rs2495167615, rs2495319282, rs2496124596, rs1592366898, rs2496309388, rs2495097530, rs2495969092, rs2496289320, rs1565245598, rs2495965520, rs2494739987, rs1592420967, rs2495149011, rs1592435632, rs886041222, rs886042838, rs2495176679, rs374396492, rs2495983908, rs2496306947, rs2495069375, rs2496306498, rs2495056510, rs2495296956, rs2496295153, rs2496626128, rs2495990286, rs2495077510, rs2496002045, rs2496292641, rs1057517785, rs1057517780, rs1057520755, rs1057523821, rs1131692314, rs1131692309, rs1131692308, rs1131692304, rs1131692297, rs1131692292, rs141873759, rs1131692286, rs1131692284, rs1131692282, rs1554982299, rs1554984996, rs1554985024, rs1329112134, rs1554982609, rs1554985282, rs1554986754, rs1554985100, rs1554983229, rs1554983571, rs1554985305, rs397514640, rs1554985714, rs1554985028, rs1554983577, rs1554985716, rs1411880763, rs1554986858, rs1565245835, rs1565246499, rs1592416305, rs1592433640, rs1592563428, rs1592564313, rs1592564672, rs1592416453, rs1592532084, rs1357628990, rs1592562836, rs1592563240, rs121907913, rs1592412022, rs1057517783, rs1592416538, rs587778874, rs1953513506, rs1953896100, rs1953961273, rs1954534591, rs1950522383, rs1953478890, rs1950537152, rs1950629763, rs1953470546, rs1954553083, rs1950628459, rs1954548195	RCV001346239 RCV001381920 RCV001388581 RCV001382739 RCV001388985 RCV003771817 RCV001917511 RCV001958818 RCV002035231 RCV002037739 RCV001999724 RCV001874944 RCV001966495 RCV001972713 RCV001887044 RCV001939153 RCV001975226 RCV001963082 RCV001963138 RCV001975078 RCV001962494 RCV001976953 RCV001946374 RCV001851620 RCV000543409 RCV000536976 RCV001238030 RCV001851621 RCV002512714 RCV000805010 RCV001246978 RCV003764525 RCV003037377 RCV003062353 RCV003037378 RCV003037379 RCV003062354 RCV003058300 RCV003062355 RCV003062356 RCV003074949 RCV002632616 RCV002807217 RCV002806654 RCV002824883 RCV002815171 RCV002856977 RCV002829659 RCV002846733 RCV002863142 RCV002871967 RCV002867485 RCV002919034 RCV002904211 RCV003014206 RCV003024031 RCV003028730 RCV003032812 RCV003034880 RCV003051754 RCV003054437 RCV000547174 RCV000555731 RCV003491359 RCV000635404 RCV003783563 RCV003783564 RCV003783565 RCV003792148 RCV003806768 RCV003805306 RCV003803251 RCV003802350 RCV003802351 RCV003817875 RCV003801616 RCV003815288 RCV003813325 RCV000557326 RCV001215069 RCV001036942 RCV001865384 RCV003766788 RCV002527124 RCV000635403 RCV000699145 RCV001865557 RCV003766787 RCV005222973 RCV000804957 RCV003488635 RCV000635401 RCV001851364 RCV000541782 RCV000533224 RCV000554918 RCV000527030 RCV000548212 RCV000541017 RCV000544207 RCV003767251 RCV001853950 RCV002530828 RCV000635400 RCV003764654 RCV002531115 RCV001860432 RCV000635402 RCV000635405 RCV003767898 RCV001855622 RCV000687949 RCV000685643 RCV000701816 RCV000823497 RCV000803537 RCV000807435 RCV000816858 RCV000815829 RCV000815884 RCV003769284 RCV002549624 RCV001245881 RCV002550583 RCV002549623 RCV001058452 RCV002549622 RCV002550582 RCV002549625 RCV003769285 RCV001056174 RCV000059340 RCV001045981 RCV001036028 RCV001061424 RCV001061758 RCV001213235 RCV001212207 RCV001229734 RCV001237982 RCV001239657 RCV001239061 RCV001269465 RCV001269464 RCV000707094
Isolated anophthalmia-microphthalmia syndrome	Pathogenic	rs1131692282	RCV005621957
Isolated optic nerve hypoplasia	Pathogenic	rs121907924	RCV000003644
Microphthalmia	Pathogenic	rs1554985722	RCV000603782
Nystagmus	Likely pathogenic; Pathogenic	rs121907922	RCV000785745
Optic nerve aplasia, bilateral	Pathogenic	rs121907926	RCV000003647
PAX6-related disorder	Pathogenic; Likely pathogenic	rs886041222, rs886044289, rs773606401, rs141873759, rs1565277245, rs398123295	RCV004545764 RCV003401272 RCV004544161 RCV004740267 RCV004535691 RCV004537306
PAX6-related ocular dysgenesis	Likely pathogenic	rs121907919	RCV005255551
See cases	Likely pathogenic	rs2134657107	RCV002252543
Sporadic aniridia	Likely pathogenic; Pathogenic	rs121907922	RCV005862696
Visual impairment	Likely pathogenic; Pathogenic	rs121907922	RCV000785745

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
11p partial monosomy syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs759391101, rs56139994, rs667773, rs143477661, rs140971065, rs886048183, rs886048184, rs371438311, rs542906080, rs886048189, rs886048196, rs776894983, rs576321279, rs1506, rs117590302, rs114384476, rs886048203, rs566281941, rs146579778, rs886048180, rs180780893, rs185968715, rs886048181, rs3026401, rs886048185, rs141022497, rs34919147, rs886048190, rs79739975, rs662702, rs886048193, rs886048194, rs886048195, rs73477656, rs73477658, rs189545730, rs181818313, rs886048197, rs886048198, rs766518284, rs886048199, rs886048200, rs145329506, rs886048204, rs886048205, rs75563367, rs886048206, rs886048208, rs745626044, rs886048182, rs183433948, rs567720234, rs187705792, rs541022955, rs3026399, rs192709453, rs143185259, rs138881442, rs3026397, rs886048191, rs530259403, rs753595935, rs111270711, rs886048209, rs183115097, rs16922475, rs886048186, rs149777109, rs608293, rs886048187, rs397795797, rs886048188, rs3026398, rs886048192, rs12421026, rs3026396, rs530931929, rs55756603, rs774473337, rs200391530, rs886048201, rs149053004, rs886048202, rs886048207, rs1167005463, rs191399467, rs141344418, rs138035131, rs115045926, rs779631884, rs202154006	RCV005369933 RCV000395452 RCV000380248 RCV000342402 RCV000324957 RCV000385439 RCV000403445 RCV000352015 RCV000267644 RCV000280659 RCV000374058 RCV000300342 RCV000328249 RCV000399005 RCV000362658 RCV000279921 RCV000350255 RCV000348840 RCV000354188 RCV000389401 RCV000335218 RCV000336938 RCV000323907 RCV000272675 RCV000280660 RCV000391691 RCV000359957 RCV000382003 RCV000360468 RCV000295981 RCV000292600 RCV000354896 RCV000384842 RCV000338811 RCV000274301 RCV000264355 RCV000291615 RCV000321837 RCV000372909 RCV000325750 RCV000351716 RCV000259852 RCV000398566 RCV000316832 RCV000262940 RCV000272084 RCV000272429 RCV000358202 RCV000362512 RCV000260177 RCV000305276 RCV000378193 RCV000373184 RCV000392243 RCV000261905 RCV000381317 RCV000330763 RCV000353194 RCV000393773 RCV000292096 RCV000302550 RCV000377012 RCV000344279 RCV000361678 RCV000370578 RCV000300259 RCV000356776 RCV000268116 RCV000386337 RCV000299309 RCV000401427 RCV000302597 RCV000306938 RCV000334355 RCV000325742 RCV000401325 RCV000293262 RCV000304850 RCV000297659 RCV000323080 RCV000374554 RCV000299533 RCV000308509 RCV000323884 RCV000768370 RCV001107188 RCV001105880 RCV001106175 RCV001103308 RCV001105398 RCV001105403
Abnormality of refraction	Conflicting classifications of pathogenicity	rs667773	RCV002226702
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs765926181	RCV005925439
Aniridia, Cerebellar Ataxia, And Intellectual Disability	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs667773, rs143477661, rs140971065, rs886048183, rs886048184, rs371438311, rs542906080, rs886048189, rs886048196, rs776894983, rs576321279, rs1506, rs114384476, rs886048203, rs566281941, rs146579778, rs886048180, rs180780893, rs185968715, rs886048181, rs3026401, rs886048185, rs141022497, rs34919147, rs886048190, rs886048193, rs886048194, rs886048195, rs73477656, rs73477658, rs189545730, rs181818313, rs886048197, rs886048198, rs766518284, rs886048199, rs886048200, rs145329506, rs886048204, rs886048205, rs75563367, rs886048206, rs886048208, rs745626044, rs886048182, rs183433948, rs567720234, rs187705792, rs541022955, rs3026399, rs143185259, rs138881442, rs3026397, rs886048191, rs530259403, rs753595935, rs111270711, rs886048209, rs183115097, rs16922475, rs886048186, rs149777109, rs608293, rs886048187, rs397795797, rs886048188, rs3026398, rs886048192, rs3026396, rs530931929, rs55756603, rs774473337, rs200391530, rs886048201, rs149053004, rs886048202, rs886048207	RCV000382578 RCV000301599 RCV000364661 RCV000294730 RCV000407623 RCV000292478 RCV000263956 RCV000338068 RCV000260716 RCV000355143 RCV000288319 RCV000339784 RCV000379317 RCV000396789 RCV000314007 RCV000271935 RCV000292766 RCV000402987 RCV000335986 RCV000284918 RCV000333466 RCV000392365 RCV000289781 RCV000392047 RCV000290011 RCV000347571 RCV000333867 RCV000275152 RCV000378342 RCV000393911 RCV000362170 RCV000346558 RCV000379592 RCV000401108 RCV000312872 RCV000307259 RCV000303579 RCV000285944 RCV000263207 RCV000297718 RCV000342124 RCV000377350 RCV000310419 RCV000313520 RCV000268405 RCV000310707 RCV000372529 RCV000374742 RCV000345738 RCV000321786 RCV000328303 RCV000318395 RCV000358577 RCV000380672 RCV000359529 RCV000318915 RCV000289037 RCV000263020 RCV000330932 RCV000407248 RCV000314581 RCV000291530 RCV000331769 RCV000314745 RCV000387389 RCV000363009 RCV000314986 RCV000400105 RCV000337321 RCV000372434 RCV000395638 RCV000356053 RCV000271415 RCV000294817 RCV000263284 RCV000273315 RCV000371409
Anophthalmia	Uncertain significance; Benign	rs886048189, rs886048180, rs141022497, rs34919147, rs886048190, rs886048194, rs886048200, rs886048205, rs886048208, rs886048186, rs397795797, rs886048188, rs200391530	RCV000372839 RCV000351665 RCV000324796 RCV000392032 RCV000286354 RCV000300661 RCV000358490 RCV000333122 RCV000296188 RCV000406035 RCV000352420 RCV000407420 RCV000380091
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs727504064, rs56139994, rs667773, rs143477661, rs140971065, rs886048183, rs886048184, rs371438311, rs542906080, rs886048196, rs776894983, rs576321279, rs1506, rs117590302, rs114384476, rs886048203, rs566281941, rs146579778, rs180780893, rs185968715, rs886048181, rs3026401, rs886048185, rs79739975, rs662702, rs886048193, rs886048195, rs73477656, rs73477658, rs189545730, rs181818313, rs886048197, rs886048198, rs766518284, rs886048199, rs145329506, rs886048204, rs75563367, rs886048206, rs745626044, rs886048182, rs183433948, rs567720234, rs187705792, rs541022955, rs3026399, rs192709453, rs143185259, rs138881442, rs3026397, rs886048191, rs530259403, rs753595935, rs111270711, rs886048209, rs183115097, rs16922475, rs149777109, rs608293, rs886048187, rs3026398, rs886048192, rs12421026, rs3026396, rs530931929, rs55756603, rs774473337, rs886048201, rs149053004, rs886048202, rs886048207, rs373147550, rs748381549, rs1171230486, rs1269133831, rs544117348, rs990066045, rs1948594512, rs549835579, rs1006923180, rs191399467, rs1948639449, rs1010978990, rs994285025, rs906435505, rs1948715280, rs558836571, rs865924000, rs141344418, rs1948752515, rs923696320, rs1452069622, rs1948792866, rs1029065786, rs138035131, rs115045926, rs1250874661, rs934715799, rs1468270124, rs572377074, rs75572362, rs779631884, rs202154006, rs1592415376, rs373715028, rs1159095794, rs1953501315, rs371018133, rs769095184, rs1953969921, rs1954524676, rs1956928845	RCV000207422 RCV000395429 RCV000329038 RCV000381110 RCV000333529 RCV000351915 RCV000297220 RCV000279629 RCV000321448 RCV000295352 RCV000331972 RCV000367996 RCV000280988 RCV000399196 RCV000324755 RCV000351386 RCV000336482 RCV000262804 RCV000361151 RCV000385650 RCV000285293 RCV000386873 RCV000387813 RCV000407121 RCV000317253 RCV000390045 RCV000327107 RCV000402026 RCV000313354 RCV000358805 RCV000343373 RCV000270395 RCV000347675 RCV000365214 RCV000292153 RCV000310966 RCV000266327 RCV000329407 RCV000370938 RCV000310183 RCV000383156 RCV000392381 RCV000319012 RCV000392251 RCV000308649 RCV000260635 RCV000289228 RCV000387677 RCV000375323 RCV000262281 RCV000327175 RCV000402118 RCV000324563 RCV000318475 RCV000317592 RCV000372621 RCV000405069 RCV000358001 RCV000271960 RCV000393908 RCV000368371 RCV000349502 RCV000282254 RCV000350910 RCV000320109 RCV000291955 RCV000263589 RCV000345074 RCV000353328 RCV000399419 RCV000337076 RCV001103483 RCV001106821 RCV001107475 RCV001103845 RCV001103953 RCV001107672 RCV001107099 RCV001107769 RCV001104435 RCV001107187 RCV001107190 RCV001107838 RCV001107284 RCV001108027 RCV001102804 RCV001104732 RCV001104735 RCV001105876 RCV001108209 RCV001106077 RCV001108311 RCV001108313 RCV001103105 RCV001108390 RCV001103303 RCV001105213 RCV001103392 RCV001105304 RCV001108643 RCV001103478 RCV001105397 RCV001105404 RCV001106543 RCV001105489 RCV001106649 RCV001106652 RCV001108806 RCV001103658 RCV001105594 RCV001106747 RCV001103752
carboxymethyl-dextran-A2-gadolinium-DOTA	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs56139994, rs667773, rs143477661, rs140971065, rs886048183, rs886048184, rs371438311, rs542906080, rs886048196, rs776894983, rs576321279, rs1506, rs117590302, rs114384476, rs886048203, rs566281941, rs146579778, rs180780893, rs185968715, rs886048181, rs3026401, rs886048185, rs79739975, rs662702, rs886048193, rs886048195, rs73477656, rs73477658, rs189545730, rs181818313, rs886048197, rs886048198, rs766518284, rs886048199, rs145329506, rs886048204, rs75563367, rs886048206, rs745626044, rs886048182, rs183433948, rs567720234, rs187705792, rs541022955, rs3026399, rs192709453, rs143185259, rs138881442, rs3026397, rs886048191, rs530259403, rs753595935, rs111270711, rs886048209, rs183115097, rs16922475, rs149777109, rs608293, rs886048187, rs3026398, rs886048192, rs12421026, rs3026396, rs530931929, rs55756603, rs774473337, rs886048201, rs149053004, rs886048202, rs886048207, rs373147550, rs748381549, rs1171230486, rs1269133831, rs544117348, rs990066045, rs1948594512, rs549835579, rs1006923180, rs191399467, rs1948639449, rs1010978990, rs994285025, rs906435505, rs1948715280, rs558836571, rs865924000, rs141344418, rs1948752515, rs923696320, rs1452069622, rs1948792866, rs1029065786, rs138035131, rs115045926, rs1250874661, rs934715799, rs1468270124, rs572377074, rs75572362, rs779631884, rs202154006, rs1592415376, rs373715028, rs1159095794, rs1953501315, rs371018133, rs1953969921, rs1954524676, rs1956928845	RCV000290390 RCV000383559 RCV000291396 RCV000275846 RCV000381848 RCV000335913 RCV000327708 RCV000382078 RCV000316416 RCV000358612 RCV000275545 RCV000338402 RCV000271497 RCV000375488 RCV000396785 RCV000394812 RCV000378162 RCV000391974 RCV000391063 RCV000288491 RCV000362607 RCV000334496 RCV000407135 RCV000371951 RCV000343698 RCV000290464 RCV000342146 RCV000365290 RCV000307924 RCV000400557 RCV000264439 RCV000309431 RCV000370623 RCV000396936 RCV000394809 RCV000399524 RCV000380717 RCV000364742 RCV000391067 RCV000360692 RCV000275544 RCV000276294 RCV000339849 RCV000367972 RCV000315850 RCV000311467 RCV000273485 RCV000260907 RCV000301027 RCV000323647 RCV000308213 RCV000375806 RCV000333413 RCV000259992 RCV000355481 RCV000367340 RCV000323175 RCV000366442 RCV000356446 RCV000311393 RCV000280577 RCV000270682 RCV000371876 RCV000388786 RCV000343181 RCV000303539 RCV000319669 RCV000273738 RCV000359559 RCV000292666 RCV001103481 RCV001107471 RCV001107473 RCV001107477 RCV001103955 RCV001107670 RCV001104349 RCV001104131 RCV001104436 RCV001104439 RCV001107192 RCV001107837 RCV001107282 RCV001107371 RCV001102805 RCV001104731 RCV001105874 RCV001105878 RCV001108207 RCV001106079 RCV001108309 RCV001108315 RCV001103108 RCV001106177 RCV001103306 RCV001105216 RCV001103391 RCV001103395 RCV001106440 RCV001103477 RCV001105399 RCV001106542 RCV001106546 RCV001105488 RCV001106651 RCV001108805 RCV001108808 RCV001105597 RCV001106746 RCV001103753
Developmental disorder	Conflicting classifications of pathogenicity	rs2496004464	RCV003764457
Familial cancer of breast	Benign	rs11031479	RCV005919994
Gillespie syndrome	Uncertain significance	rs1255007700	RCV002472273
Intellectual disability	Conflicting classifications of pathogenicity	rs759557055	RCV005622044
Iris coloboma	Conflicting classifications of pathogenicity	rs2496174697	RCV002291351
Sarcoma	Benign	rs11031479	RCV005919995

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	28533502
Adenomatous Polyposis Coli	Associate	17873900
Agenesis of Corpus Callosum	Associate	19862335
Al Awadi syndrome	Associate	23734086
Albinism Ocular	Associate	28667292
Alcohol Related Disorders	Associate	39212610
Aniridia	Associate	10441571, 11826019, 12386836, 12782766, 12789139, 1334370, 15086958, 15307048, 15889018, 15918896, 16617299, 16785853, 16803629, 17417613, 17630404, 18334930, 18483559, 18753648, 18776953, 19862335, 19898691, 20057906, 20664694, 20685816, 20806047, 21321669, 21423868, 2154702, 21633710, 21850189, 21904390, 22171157, 22393272, 22393275, 22509105, 22550392, 22815628, 22919266, 23517654, 23734086, 23761016, 23799907, 23942204, 24349436, 24737507, 24787241, 25678763, 26535646, 26661695, 27124303, 27463523, 28157223, 28231309, 28300742, 29343077, 29380764, 29618921, 29901133, 29930474, 30151985, 30221735, 30315214, 30334364, 30621664, 31116317, 31174676, 31361967, 31700164, 31734509, 32056389, 32080308, 32125788, 32214788, 32396632, 32422284, 32708836, 33024313, 33524672, 33745259, 34016071, 34065151, 34101622, 34566401, 34610801, 34827649, 34942114, 35034608, 36202929, 36675087, 37269011, 37510387, 37542296, 37752489, 37958513, 38002984, 38130099, 40133207, 40280197, 40334825, 40531840, 40570009, 7666404, 7668281, 7909985, 8825052, 9013587, 9132491, 9138149
Aniridia cerebellar ataxia mental deficiency	Associate	27124303
Anisometropia	Associate	37266952
Anophthalmia with pulmonary hypoplasia	Associate	31700164
Anophthalmos	Associate	16113496, 23701296, 26130484
Anterior segment mesenchymal dysgenesis	Associate	17417613, 21904390, 22025896, 27463523, 32224865, 37553561, 39870121, 7668281
Aphakia	Associate	26130484
Aphakia congenital primary	Associate	26130484
Asthma	Associate	32460303, 39643224
Astrocytoma	Associate	21059263
Atrial Fibrillation	Associate	32478689
Autistic Disorder	Associate	32499604
Axenfeld Rieger syndrome	Associate	10441571, 11284764, 27463523
Axial osteomalacia	Associate	37266952
Basal Ganglia Diseases	Associate	31412107
Brain Diseases	Associate	19862335, 19876904
Brain Infarction	Associate	19862335
Breast Neoplasms	Associate	14633992, 22765268, 25287138, 29127590, 29512753, 30362313, 37793815
Breast Neoplasms Male	Associate	22765268
Carcinoma Endometrioid	Associate	35081118
Carcinoma Hepatocellular	Associate	27110298
Carcinoma Hepatocellular	Inhibit	37724397
Carcinoma Non Small Cell Lung	Associate	24454925, 26617874, 29568088, 30594196
Carcinoma Pancreatic Ductal	Associate	31956659
Carcinoma Renal Cell	Associate	27556922, 37511191
Carcinoma Squamous Cell	Associate	18027901, 22143938
Cataract	Associate	10441571, 15889018, 17417613, 19862335, 20508808, 20664694, 20806047, 22025896, 23213273, 23942204, 24737507, 25678763, 28450710, 29914532, 29930474, 30221735, 32827359, 33339270, 33745259, 33923544, 34016071, 34065151, 34101622, 34345029, 34610801, 34893493, 35034608, 37337769, 37553561, 39212610
Cataract Autosomal Dominant	Associate	34345029
Cataract microcornea syndrome	Associate	28157223
Cataract Nuclear Progressive	Associate	22393272, 23734086
Central Nervous System Vascular Malformations	Associate	16098226, 20054790
Chemke Oliver Mallek syndrome	Associate	35034608
Cleft Palate	Associate	19142206
Cognition Disorders	Associate	17417613
Coloboma	Associate	11826019, 21655361, 24349436, 26130484, 29930474, 33024313
Colorectal Neoplasms	Associate	30191603, 33099925, 33462242
Congenital Abnormalities	Associate	17417613
congenital fibrosis of the extraocular muscles	Associate	23799907
Corneal Diseases	Associate	33373496
Corneal Dystrophies Hereditary	Associate	10441571
Corneal Dystrophy Band Shaped	Associate	25678763, 29618921, 34016071
Corneal Opacity	Associate	37510387, 37856539
COVID 19	Associate	34653711
Creatine deficiency X linked	Inhibit	37830910
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	12782766, 37269011
Developmental Disabilities	Associate	19898691, 23734086, 34566401
Diabetes Mellitus	Associate	19876904, 30151985, 31361967, 36202929
Diabetes Mellitus Type 1	Associate	30151985
Diabetes Mellitus Type 2	Associate	36202929
Down Syndrome	Associate	37958513
Dystonic Disorders	Associate	25678763
Ectropion	Associate	28300742
Elejalde Disease	Associate	17417613
Ependymoma	Associate	34183436
Epileptic Syndromes	Associate	16803629
Eye Abnormalities	Associate	10441571, 15912477, 15918896, 16098226, 16803629, 18483559, 19898691, 20806047, 21321669, 23701296, 24787241, 29930474, 31116317, 32080308, 35034608, 36202929, 36675087, 40133207
Eye Diseases	Associate	15918896, 16803629, 23701296, 24281366, 33024313, 37553561, 39212610
Eye Diseases Hereditary	Associate	32708836, 36729443
Eye Infections	Associate	20405024, 24349436
Fetal Alcohol Spectrum Disorders	Associate	17417613
Fibrosis Of Extraocular Muscles Congenital 3A with or without Extraocular Involvement	Associate	31700164
Foveal Hypoplasia Isolated	Associate	33024313, 34415986, 37510387
Genetic Diseases Inborn	Associate	34415986, 34610801
Genital Neoplasms Female	Associate	39571690
Glaucoma	Associate	19862335, 25678763, 27484908, 34101622, 35034608
Glaucoma 3 Primary Congenital A	Associate	26130484, 27463523
Glioblastoma	Inhibit	19790232, 29716531
Glioblastoma	Associate	27863244, 28035389
Glioma	Associate	16212813, 18273794, 20500513, 27863244
Glioma Subependymal	Associate	20500513, 34183436
Gliosis	Associate	33370704
Glucose Intolerance	Associate	33745259
Goniodysgenesis Mental Retardation Short Stature Syndrome	Associate	37553561
Growth Disorders	Associate	29930474, 9132491
Hearing Disorders	Associate	19862335
Heterochromia iridis	Associate	22025896
Hirschsprung Disease	Associate	26879676
Hyperopia	Associate	39212610
Hypersensitivity Delayed	Associate	19862335
Hypogonadism	Associate	30098700
Hypoxia	Associate	25955133
Inflammation	Associate	35491409
Intellectual Disability	Associate	18753648, 22103961, 29343077, 31361967, 36011342
Iris Diseases	Associate	16803629, 18483559, 22025896, 22815628, 23942204, 25678763, 26130484, 32214788, 37553561, 39212610, 7666404
Keratitis	Associate	7668281
Leber Congenital Amaurosis	Associate	36140798
Lens Subluxation	Associate	30221735
Leprosy Tuberculoid	Associate	16098226
Limbal Stem Cell Deficiency	Associate	32422284, 33373496
Lung Neoplasms	Associate	24454925
Lung Neoplasms	Stimulate	30594196
Lymphatic Metastasis	Associate	36454866
Macular Degeneration	Associate	32209064
Medulloblastoma	Associate	21059263, 7777574
Mental Disorders	Associate	21494683
Metabolic Syndrome	Associate	21494683
Microphthalmia Isolated With Corectopia	Associate	37553561
Microphthalmos	Associate	16113496, 17417613, 23701296, 26130484, 31700164, 32125788, 33024313, 33524672, 35716026, 40280197
Myopia	Associate	15307048, 17653045, 19907666, 21589860, 23213273, 33745259, 35034608, 36277877, 38243264
Neoplasm Metastasis	Associate	26617874
Neoplasms	Inhibit	18273794, 21710491, 28924151, 29568088
Neoplasms	Associate	20233874, 20500513, 24454925, 24493828, 24939714, 26617874, 26738864, 29716531, 34183436, 37724397, 37793815, 39571690
Neoplasms	Stimulate	24493828, 30594196
Neoplastic Syndromes Hereditary	Associate	37958513
Nerve Degeneration	Associate	21633710
Neuroendocrine Tumors	Associate	35739266
Norrie disease	Associate	20405024, 28157223
Nystagmus 2 congenital autosomal dominant	Associate	23942204
Nystagmus Congenital	Associate	32080308
Nystagmus Pathologic	Associate	17417613, 22025896, 22171157, 23942204, 25678763, 28157223, 29930474, 30221735, 33024313, 34016071, 34065151, 34101622, 34610801, 39212610
O'Donnell Pappas syndrome	Associate	10441571, 17417613, 19862335, 23942204, 25678763, 28300742, 31174676, 32080308, 32396632, 34016071, 34101622, 34415986, 34942114, 35034608, 35157951, 36675087, 37510387, 37553561, 39212610, 40133207
Obesity Morbid	Associate	31361967
Opitz Kaveggia syndrome	Associate	22025896
Optic Atrophy	Associate	19862335
Optic Nerve Diseases	Associate	16604056, 37553561
Optic Nerve Hypoplasia	Associate	16604056, 23942204
Oropharyngeal Neoplasms	Associate	34974810
Oroticaciduria 1	Associate	16604056
Osteosarcoma	Associate	29345189
Pancreatitis	Associate	21494683, 33198821, 39571690
Peritoneal Neoplasms	Associate	18027901
Peritoneal Neoplasms	Inhibit	25228544
Peters anomaly	Associate	10441571, 17417613, 20405024, 21904390, 25182519, 35170016, 7668281
Pinealoma	Associate	19862335
Precancerous Conditions	Associate	30191603
Prostatic Neoplasms	Inhibit	19790232
Prostatic Neoplasms	Associate	20053773
Ptosis Hereditary Congenital 2	Associate	23734086, 33745259
Retinal Detachment	Associate	37542296
Retinal Dystrophies	Associate	36140798
Retinitis Pigmentosa	Associate	36140798
Retinoblastoma	Associate	23660406, 24939714, 33432525, 34989314
Rhabdomyosarcoma Alveolar	Associate	10666368
Rhegmatogenous Retinal Detachment Autosomal Dominant	Associate	37542296
Rhinitis	Associate	32460303
Sarcoma Alveolar Soft Part	Stimulate	24493828
Schizophrenia	Associate	36232882
Sjogren's Syndrome	Inhibit	25228544
Sleep Deprivation	Associate	29343077
Sleep Initiation and Maintenance Disorders	Associate	21494683
Sleep Wake Disorders	Associate	26439359, 29343077
Squamous Cell Carcinoma of Head and Neck	Associate	32924983, 34974810
Stomach Neoplasms	Associate	16367923
Stomach Neoplasms	Stimulate	26738864
Supratentorial Neoplasms	Inhibit	34183436
Tauopathies	Associate	32661233
Teratoma	Associate	32587369
Testicular Neoplasms	Stimulate	39571690
Thrombophilia due to Activated Protein C Resistance	Associate	32661233
Thyroid Cancer Papillary	Associate	34866540
Tuberculosis Multidrug Resistant	Associate	29512753
Urogenital Abnormalities	Associate	18753648, 31361967, 36011342
Urogenital Abnormalities	Inhibit	29061165
Virus Diseases	Associate	27110298
Vision Disorders	Associate	21364908, 29618921
WAGR Syndrome	Associate	1334370, 18753648, 31361967, 32708836, 36011342, 38002984
Wilms Tumor	Associate	12386836, 1334370, 18753648, 2154702
X Linked Infantile Nystagmus	Associate	29145603, 34415986