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

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
Albinism or congenital nystagmus	Pathogenic	rs1057517785	RCV005252874	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aniridia, atypical	Likely pathogenic	rs121907919	RCV000003636	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anterior segment dysgenesis	Likely pathogenic; Pathogenic	rs587778874	RCV001200041	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES	Pathogenic	rs121907921	RCV000003638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE	Likely pathogenic; Pathogenic	rs121907913	RCV000003627	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant keratitis	Pathogenic	rs587776571	RCV001804148	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataracts, congenital, with late-onset corneal dystrophy	Pathogenic	rs121907915	RCV000003626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coloboma of optic nerve	Pathogenic	rs121907923	RCV000003643	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital aniridia	Pathogenic	rs2496307620, rs2496003605, rs2495062112, rs1592610121	RCV005420428 RCV005420429 RCV005420430 RCV005420276	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Pathogenic; Likely pathogenic	rs864309681, rs864309686, rs1554985722	RCV000203337 RCV000203333 RCV000603782	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Foveal hypoplasia 1	Likely pathogenic; Pathogenic	rs121907918, rs121907922, rs587776572, rs397514640	RCV000003635 RCV005234778 RCV000003648 RCV001249825	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Foveal hypoplasia 1 with cataract	Pathogenic	rs121907920	RCV000003637	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Foveal hypoplasia 1 with or without anterior segment anomalies	Pathogenic	rs121907921	RCV000128793	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertelorism	Likely pathogenic; Pathogenic	rs121907922	RCV000785745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated anophthalmia-microphthalmia syndrome	Pathogenic	rs1131692282	RCV005621957	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated optic nerve hypoplasia	Pathogenic	rs121907924	RCV000003644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia	Pathogenic	rs1554985722	RCV000603782	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Likely pathogenic; Pathogenic	rs121907922	RCV000785745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic nerve aplasia, bilateral	Pathogenic	rs121907926	RCV000003647	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAX6-related disorder	Pathogenic; Likely pathogenic	rs886041222, rs886044289, rs773606401, rs141873759, rs1565277245, rs398123295	RCV004545764 RCV003401272 RCV004544161 RCV004740267 RCV004535691 RCV004537306	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PAX6-related ocular dysgenesis	Likely pathogenic	rs121907919	RCV005255551	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sporadic aniridia	Likely pathogenic; Pathogenic	rs121907922	RCV005862696	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visual impairment	Likely pathogenic; Pathogenic	rs121907922	RCV000785745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
11p partial monosomy syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormality of refraction	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANIRIDIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANIRIDIA TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia, Cerebellar Ataxia, And Intellectual Disability	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANOPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT DYSGENESIS 5	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPE S	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AXENFELD-RIEGER SYNDROME, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
carboxymethyl-dextran-A2-gadolinium-DOTA	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, NUCLEAR PROGRESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PARANOID SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT EYELID	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA OF CHOROID AND RETINA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA OF LENS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA OF OPTIC DISC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL COLOBOMA OF IRIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF OPTIC NERVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gillespie syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Iris coloboma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS, HEREDITARY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA/COLOBOMA 12	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOID SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	BEFREE	24161406		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29980786		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17873900		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	7777574		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	19862335	Associate	★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	BEFREE	24161406, 29781739		★☆☆☆☆ Found in Text Mining only
Albinism Ocular	Ocular albinism	Pubtator	28667292	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	21264491		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	10234503, 10441571, 10532715, 10660341, 10694925, 10737978, 10857836, 10887930, 10955655, 11087823, 11431688, 11479730, 11553050, 11590122, 11756345, 11826019, 11889558, 12325030, 12552561, 12634864, 12782766, 12789139, 12868034, 1302030, 1345175, 1347148, 15066147, 15086958, 15307048, 15480875, 15618012, 15740668, 15842522, 15889018, 15918896, 16493447, 16617299, 16646034, 16717455, 16785853, 16803629, 1684738, 17031679, 17417613, 17454233, 17679951, 17893655, 17935232, 18241071, 18243151, 18322702, 18334930, 18484311, 18766996, 18776953, 19034419, 19218613, 19607881, 19610080, 19793656, 19862335, 19898691, 20057906, 20132240, 20500513, 20538882, 20577777, 20664694, 20685816, 20806047, 21264491, 21321669, 21397818, 21423868, 21633710, 21660403, 21691140, 21850189, 21904390, 21985185, 22146551, 22171157, 22361317, 22393272, 22393275, 22509105, 22550392, 22621390, 22815628, 22893676, 22919266, 23213277, 2347591, 23517654, 23734086, 23761016, 23799907, 23942204, 24290376, 24349436, 24737507, 24787241, 25189681, 25366758, 25678763, 25687215, 2570677, 25724657, 25746674, 26394807, 26419218, 26535646, 26661695, 26849621, 27108797, 27124303, 27431685, 27463523, 27771509, 27919838, 28157223, 28231309, 28321846, 28488383, 28549150, 28598868, 28624217, 28760551, 28906020, 29162348, 29343077, 29808941, 29901133, 29902091, 30151985, 30221735, 30258099, 30290306, 30291432, 30292490, 30315214, 30334364, 30572005, 30621664, 30985247, 30986449, 31304537, 31361967, 31700164, 31734509, 7550230, 7666404, 7668281, 7795596, 7909985, 7951315, 7958875, 7981748, 8111379, 8162071, 8188215, 8364574, 8529675, 8689689, 9132491, 9138149, 9147640, 9281415, 9482572, 9625553, 9683959, 9727514, 9727515, 9792406, 9856761, 9931324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	UNIPROT_DG	10234503, 10737978, 11309364, 11553050, 11826019, 12552561, 12634864, 16493447, 17595013, 21850189, 24033328, 8364574, 9147640, 9281415, 9792406, 9856761, 9931324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	LHGDN	12789139, 15889018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	GENOMICS_ENGLAND_DG	17148041, 17406642, 25342853, 2855731, 7550230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	CTD_human_DG	18322702, 30221735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	ORPHANET_DG	9138149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia cerebellar ataxia mental deficiency	Aniridia-cerebellar ataxia-intellectual disability syndrome	Pubtator	27124303	Associate	★☆☆☆☆ Found in Text Mining only
Aniridia type 1	Aniridia	CLINVAR_DG	10234503, 10737978, 11309364, 12552561, 12634864, 15579687, 15889018, 16712695, 18241071, 18483559, 19862335, 19898691, 20577777, 21397818, 21423868, 21850189, 22692063, 23761016, 24737507, 26535646, 26661695, 26849621, 27081502, 27307692, 27431685, 27455012, 28321846, 29618921, 8111279, 8364574, 9482572, 9792406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia type 2	Aniridia	BEFREE	2347591		★☆☆☆☆ Found in Text Mining only
Aniridia-cerebellar ataxia-intellectual disability syndrome	Aniridia, Cerebellar Ataxia, And Mental Retardation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anisometropia	Anisometropia	Pubtator	37266952	Associate	★☆☆☆☆ Found in Text Mining only
Anomalous pulmonary artery	Anomalous Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29845293, 30293872, 30896829		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	31700164	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	16113496, 23701296, 26130484	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	BEFREE	23701296, 25542770		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	GENOMICS_ENGLAND_DG	7550230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT DYSGENESIS 5	Anterior segment dysgenesis	CLINVAR_DG	10234503, 10737978, 11309364, 12552561, 12634864, 15579687, 15889018, 16712695, 18241071, 18483559, 19862335, 19898691, 20577777, 21397818, 21423868, 21850189, 22692063, 23761016, 24737507, 26535646, 26661695, 26849621, 27081502, 27307692, 27431685, 27455012, 28321846, 29618921, 8111279, 8364574, 9482572, 9792406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT DYSGENESIS 5	Anterior segment dysgenesis	UNIPROT_DG	10441571, 12721955, 8162071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT DYSGENESIS 5	Anterior segment dysgenesis	GENOMICS_ENGLAND_DG	12721955, 17148041, 2855731, 7550230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES	Anterior Pituitary Dysgenesis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE	Anterior Pituitary Dysgenesis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	17417613, 21904390, 22025896, 27463523, 32224865, 37553561, 39870121, 7668281	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior subcapsular cataract	Subcapsular cataract	BEFREE	15161862		★☆☆☆☆ Found in Text Mining only
Anterior synechiae	Synechiae	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Aphakia congenital primary	Congenital primary aphakia	Pubtator	26130484	Associate	★☆☆☆☆ Found in Text Mining only
Aphakia, congenital primary	Congenital primary aphakia	BEFREE	26130484		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32460303, 39643224	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15735909, 18273794, 28476689, 29716531		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	21059263	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32478689	Associate	★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	17106362		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	17106362		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	17106362, 23517654, 28711654, 29499177		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	24357251		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	18322702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	19096215, 19607881, 23517654		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	32499604	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant keratitis	Keratitis	BEFREE	24138039, 7668281		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant keratitis	Keratitis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant keratitis	Keratitis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	10532715, 14630904		★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger Syndrome, Type 1	Axenfeld anomaly	CTD_human_DG	14630904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	31412107	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	2176177		★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	BEFREE	29178648, 31700164		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10811126, 11479229, 18070176		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	18070176		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	23566044		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	19862335, 19876904	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	19862335	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21944253, 22581028, 25323813, 29127590, 29512753		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14633992, 22765268, 25287138, 29127590, 29512753, 30362313, 37793815	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	22765268	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17873900		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	35081118	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27110298	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37724397	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10811126, 11479229, 18070176		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24454925, 29980786, 30594196		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31956659	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27556922, 37511191	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18027901, 22143938	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	25804118		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	21710692		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	BEFREE	10954416, 16453125, 20806047, 27977037, 30221735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	LHGDN	15889018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	CTD_human_DG	30221735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract Autosomal Dominant	Congenital cataract	Pubtator	34345029	Associate	★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	28157223	Associate	★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	22393272, 23734086	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	28450710		★☆☆☆☆ Found in Text Mining only
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY	Congenital Cataract with corneal dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood Medulloblastoma	Medulloblastoma	BEFREE	7777574		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	19142206	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	17417613	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	11826019, 21655361, 24349436, 26130484, 29930474, 33024313	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of choroid and retina	Coloboma Of Eye	ORPHANET_DG	12721955, 16604056		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of lens	Lens coloboma	ORPHANET_DG	12721955, 16604056		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of optic disc	Coloboma of optic disc	ORPHANET_DG	12721955, 16604056		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of optic disc	Coloboma of optic disc	UNIPROT_DG	12721955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of optic disc	Coloboma of optic disc	GENOMICS_ENGLAND_DG	17148041, 2855731, 7550230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of optic disc	Coloboma of optic disc	BEFREE	30986449		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of optic disc	Coloboma of optic disc	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of optic disc	Coloboma of optic disc	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11584062, 24185687, 29512711		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30191603, 33099925, 33462242	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	17417613	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	20664694, 20806047, 21912254, 7951315, 9482572, 9727514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG	26694549, 29178648		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	2852160		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	ORPHANET_DG	12721955, 16604056		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	BEFREE	22171686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ectopic pupil	Congenital anomaly of eye	BEFREE	9931324		★☆☆☆☆ Found in Text Mining only
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	BEFREE	23799907		★☆☆☆☆ Found in Text Mining only
congenital fibrosis of the extraocular muscles	Congenital fibrosis of extraocular muscles	Pubtator	23799907	Associate	★☆☆☆☆ Found in Text Mining only
Congenital lamellar cataract	Congenital Cataract	BEFREE	28450710		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	CTD_human_DG	19329571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital nystagmus	Congenital nystagmus	BEFREE	10955655, 15629294, 30986449, 9931324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital nystagmus	Congenital nystagmus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	UNIPROT_DG	12721955		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	21655361, 24349436, 24859618, 29781739, 31700164		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	GENOMICS_ENGLAND_DG	2855731, 7550230		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital ptosis	Congenital ptosis	BEFREE	16646034, 23734086		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal degeneration	Corneal degeneration	BEFREE	12714618		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	25030175		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	33373496	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	10441571	Associate	★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	7951315		★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	37510387, 37856539	Associate	★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	28450710		★☆☆☆☆ Found in Text Mining only
Cranioschisis	Anencephaly	CTD_human_DG	19329571		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	25342853		★☆☆☆☆ Found in Text Mining only
Deletion 11p13	11p deletion syndrome	ORPHANET_DG	23266638		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30089883		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	19610080, 28906020, 30039880, 31700164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	19898691, 23734086, 34566401	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	11756345, 19034419, 23566044, 30007277, 30572005		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11756345, 15842522, 19034419, 23566044, 27841034, 30007277, 30151985, 30572005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	19876904, 30151985, 31361967, 36202929	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30151985	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36202929	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30151985		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16123366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24439111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of eye	Disorder Of Eye	BEFREE	10234503, 11857735, 15740668, 15918896, 16866875, 20577777, 26593886, 27126352		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	37958513	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	24143217, 25228544		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	26439359		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	25678763	Associate	★☆☆☆☆ Found in Text Mining only
Ectopic pupil	Ectopic Pupil	BEFREE	9931324		★☆☆☆☆ Found in Text Mining only
Elejalde Disease	Hereditary elliptocytosis	Pubtator	17417613	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	18273794		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17711980		★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	BEFREE	19218613		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	10441571, 15912477, 15918896, 16098226, 16803629, 18483559, 19898691, 20806047, 21321669, 23701296, 24787241, 29930474, 31116317, 32080308, 35034608, 36202929, 36675087, 40133207	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	15918896, 16803629, 23701296, 24281366, 33024313, 37553561, 39212610	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases Hereditary	Eye disease	Pubtator	32708836, 36729443	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	23970395		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	23970395		★☆☆☆☆ Found in Text Mining only
Foster-Kennedy Syndrome	Foster-Kennedy Syndrome	CTD_human_DG	12721955		★☆☆☆☆ Found in Text Mining only
FOVEAL HYPOPLASIA 1	Foveal hypoplasia	GENOMICS_ENGLAND_DG	17148041, 2855731, 7550230		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FOVEAL HYPOPLASIA 1	Foveal hypoplasia	UNIPROT_DG	8640214, 9931324		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FOVEAL HYPOPLASIA 1	Foveal hypoplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Foveal hypoplasia-presenile cataract syndrome	Foveal Hypoplasia-Presenile Cataract Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Frasier Syndrome	BEFREE	12050205		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gillespie syndrome	Gillespie Syndrome	GENOMICS_ENGLAND_DG	17148041, 2855731, 7550230		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gillespie syndrome	Gillespie Syndrome	ORPHANET_DG	17148041, 17595013		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gillespie syndrome	Gillespie Syndrome	BEFREE	27108797, 27124303, 8188215		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma	Glaucoma	Pubtator	19862335, 25678763, 27484908, 34101622, 35034608	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31115504, 31518395		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	26130484, 27463523	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	BEFREE	20538882		★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15735909, 17047041, 18273794, 19618119, 19790232, 23970099, 29716531, 30787993		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19790232, 29716531	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27863244, 28035389	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15735909, 17047041, 19618119, 19790232, 23970099, 29716531, 30787993		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16212813, 18273794, 20500513, 27863244	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17318412		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19618119, 24737483, 28184912		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	19898691, 24357251, 9415682		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30630121		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	29930474, 9132491	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	19862335	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Hereditary macular coloboma	Coloboma of macula	ORPHANET_DG	12721955, 16604056		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	29781739		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	26879676		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	26879676	Associate	★☆☆☆☆ Found in Text Mining only
Hyaloideoretinal degeneration of Wagner	Wagner syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	BEFREE	20538882		★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27941241, 30258099		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29112933		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	Pubtator	39212610	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	19862335	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	30098700	Associate	★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	25342853		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	15389894		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	BEFREE	10234503, 15740668, 18766996, 22815628, 23942204, 25678763, 25724657, 30167917		★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	ORPHANET_DG	12721955		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25955133	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	10463851		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24143217		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	30290306		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11553050, 12386836, 12552561, 15702131, 15779010, 15779023, 16646034, 17935232, 18322702, 18385267, 18753648, 19096215, 21660403, 2347591, 2539014, 2570677, 26419218, 28476689, 29061165, 29343077, 30242502, 31707209, 8717056		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	CTD_human_DG	18322702		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	18753648, 22103961, 29343077, 31361967, 36011342	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Irido-corneal dysgenesis	Anterior segment dysgenesis	BEFREE	17106362, 27463523, 30457409		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	ORPHANET_DG	10441571, 15090434, 8162071		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	11756345, 17417613, 20405024, 20577777, 21397818, 21904390, 7668281, 8162071, 9302254, 9482572, 9683959		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	19169473		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	22171686		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	Pubtator	7668281	Associate	★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratitis, hereditary	Keratitis, Hereditary	GENOMICS_ENGLAND_DG	17148041, 2855731, 7550230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis, hereditary	Keratitis, Hereditary	ORPHANET_DG	7668281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis, hereditary	Keratitis, Hereditary	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis, hereditary	Keratitis, Hereditary	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	24143217		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	27941241		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	36140798	Associate	★☆☆☆☆ Found in Text Mining only
Lens Subluxation	Lens Subluxation	BEFREE	28450710		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28791954		★☆☆☆☆ Found in Text Mining only
Limbal stem cell deficiency	Limbal stem cell deficiency	BEFREE	29434727		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27110298		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24454925	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30594196	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36454866	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32209064	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	22583899		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21944253, 22581028, 25323813, 29127590, 29512753		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24454925, 29980786, 30594196		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19651775		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19790232		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24505629, 26738864, 31307199		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10811126, 11479229, 18070176		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21948554, 24185687, 24737483, 26738864, 29980786		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	21059263, 7777574	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	7777574		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	16778180		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental deficiency	Mental retardation	CTD_human_DG	18322702		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	10412187		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11553050, 12386836, 12552561, 15702131, 15779010, 15779023, 16646034, 17935232, 18322702, 18385267, 18753648, 19096215, 21660403, 2347591, 2539014, 2570677, 28476689, 29061165, 30242502, 8717056		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	21494683	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21494683		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	15193293		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	BEFREE	22893676, 25189681		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7	Microphthalmia With Coloboma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	16113496, 17417613, 23701296, 26130484, 31700164, 32125788, 33024313, 33524672, 35716026, 40280197	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	17014839, 18507827, 21850183, 22171686, 23701296, 25542770, 29450879, 29781739, 7849510		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	CLINVAR_DG	29178648		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	17031679		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	10376119		★☆☆☆☆ Found in Text Mining only
Morning glory anomaly	Morning glory anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Morning glory syndrome	Morning glory syndrome	ORPHANET_DG	12721955		★☆☆☆☆ Found in Text Mining only
Morning glory syndrome	Morning glory syndrome	BEFREE	19169473		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
MUNGAN SYNDROME	MUNGAN SYNDROME	BEFREE	19169473		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	15307048, 17653045, 17898260, 17948041, 19907666, 21421876, 21589860, 22447870, 23213273, 24637479, 30453065, 30674274		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	15307048, 17653045, 19907666, 21589860, 23213273, 33745259, 35034608, 36277877, 38243264	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	LHGDN	19124844		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10861471, 15735909, 18273794, 19618119, 19790232, 20500513, 23970099, 23970395, 24454925, 25148870, 2570029, 25804118, 26738864, 28035389, 28184912, 29512711, 29568088, 29716531, 29979246, 7777574		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11479730, 11920832, 12050205, 12386836, 1334370, 15779023, 16646034, 17148041, 17935232, 18385267, 1849870, 18753648, 19096215, 2154334, 21660403, 23266638, 2347591, 24357251, 2539014, 2550862, 2570677, 2852164, 29343077, 30855519, 31304537, 7896291, 8402654, 8717056, 9132491, 9415682, 9625553, 9815658		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26593886		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	25804118, 27841034		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	17406642		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	17406642		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24454925, 26135959, 26617874, 29568088, 30594196, 31024010		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	21710692		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	10955655, 22025896, 23942204, 25366758		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus Congenital	Nystagmus	Pubtator	32080308	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	17417613, 22025896, 22171157, 23942204, 25678763, 28157223, 29930474, 30221735, 33024313, 34016071, 34065151, 34101622, 34610801, 39212610	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15702131, 23266638		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	31361967	Associate	★☆☆☆☆ Found in Text Mining only
Odontome	Odontome	CTD_human_DG	7559133, 9363853		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	18273794		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	19862335	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Disk Disorders	Optic disc disorder	CTD_human_DG	12721955		★☆☆☆☆ Found in Text Mining only
Optic Nerve Aplasia, Bilateral	Optic nerve aplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia	UNIPROT_DG	12721955		★☆☆☆☆ Found in Text Mining only
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia	GENOMICS_ENGLAND_DG	17148041, 2855731, 7550230		★☆☆☆☆ Found in Text Mining only
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	34974810	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29345189, 30982140		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29345189	Associate	★☆☆☆☆ Found in Text Mining only
O`Donnell Pappas syndrome	O`Donnell Pappas Syndrome	ORPHANET_DG	9931324		★☆☆☆☆ Found in Text Mining only
O`Donnell Pappas syndrome	O`Donnell Pappas Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
O`Donnell Pappas syndrome	O`Donnell Pappas Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19651775		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	21494683, 33198821, 39571690	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30569166		★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	10376119		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	18027901	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	25228544	Inhibit	★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	23517654, 29499177		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	19169473, 25342853		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29112933		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	15742368		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	12731001		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	BEFREE	9538891		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	2154397		★☆☆☆☆ Found in Text Mining only
Presenile cataract	Presenile Cataract	BEFREE	23942204		★☆☆☆☆ Found in Text Mining only
Presenile cataract	Presenile Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	18322702		★☆☆☆☆ Found in Text Mining only
Progressive cataract	Cataract	BEFREE	22393272		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19790232		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19790232	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20053773	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudoaphakia	Cataract	CTD_human_DG	30221735		★☆☆☆☆ Found in Text Mining only
Pseudopapilledema	Pseudopapilledema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	23566044		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	30985247		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	37542296	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	36140798	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17122106, 20577596, 21169528, 21948554, 23660406, 24939714, 29436689, 29781739, 30015924, 31727502		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	23660406, 24939714, 33432525, 34989314	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	10666368	Associate	★☆☆☆☆ Found in Text Mining only
Rhegmatogenous Retinal Detachment Autosomal Dominant	Rhegmatogenous retinal detachment	Pubtator	37542296	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	Pubtator	32460303	Associate	★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	BEFREE	10532715, 14630904		★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	24493828	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10376119, 23732879, 31784339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23732879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	36232882	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	BEFREE	17156776		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	17896318, 19124844, 19907666, 21589860, 22447870, 23213273, 24637479		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	25228544	Inhibit	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	29343077	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	26439359		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25804118		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29896272		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32924983, 34974810	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	24530397		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24505629, 26738864, 31307199		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16367923	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	26738864	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcapsular cataract	Subcapsular cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supernumerary mesiodens tooth	Supernumerary Mesiodens Tooth	BEFREE	31133012		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	39571690	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombophilia due to Activated Protein C Resistance	Thrombophilia	Pubtator	32661233	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34866540	Associate	★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	18070176		★☆☆☆☆ Found in Text Mining only
Unilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral polymicrogyria	Polymicrogyria	BEFREE	12731001		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	18753648, 31361967, 36011342	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	2570677		★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	29061165	Inhibit	★☆☆☆☆ Found in Text Mining only
Uveoretinal Coloboma	Uveoretinal Coloboma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	21364908, 29618921	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	7981748		★☆☆☆☆ Found in Text Mining only
WAGR Syndrome	WAGR Syndrome	BEFREE	10737978, 12552561, 15742368, 15779023, 19096215, 20186791, 21567907, 2347591, 23517654, 24357251, 2852160, 29061165, 7527372, 9266672		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR Syndrome	Wagr syndrome	Pubtator	1334370, 18753648, 31361967, 32708836, 36011342, 38002984	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR syndrome	WAGR Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR Syndrome	WAGR Syndrome	ORPHANET_DG	23266638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR Syndrome	WAGR Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR Syndrome	WAGR Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR Syndrome	WAGR Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	18273794		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	12386836, 1334370, 18753648, 2154702	Associate	★☆☆☆☆ Found in Text Mining only