GLI3 (GLI family zinc finger 3)

Gene

• Entrez ID: 2737
• Gene name: GLI family zinc finger 3
• Gene symbol: GLI3
• Synonyms (NCBI Gene): ACLS, GCPS, GLI3-190, GLI3FL, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV
• Chromosome: 7
• Chromosome location: 7p14.1
• Summary: This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene l

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933372	C>G	Pathogenic	Missense variant, coding sequence variant
rs34245321	C>A,G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant
rs79625212	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs116840742	TCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840743	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840744	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840745	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840746	CC>AT	Pathogenic	Coding sequence variant, stop gained
rs116840747	C>A	Pathogenic	Coding sequence variant, stop gained
rs116840748	G>A	Pathogenic	Coding sequence variant, stop gained
rs116840749	G>-	Pathogenic	Coding sequence variant, stop gained
rs116840750	G>A	Pathogenic	Coding sequence variant, stop gained
rs116840751	G>A	Pathogenic	Coding sequence variant, stop gained
rs116840752	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840753	->G	Pathogenic	Coding sequence variant, frameshift variant
rs116840754	CATCGGTCAGAGGAAGCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840755	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840756	GTTTTAGCCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840757	GTTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840758	C>T	Pathogenic	Splice donor variant
rs116840759	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840760	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs116840761	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840762	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840763	G>C	Pathogenic	Coding sequence variant, stop gained
rs116840764	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs116840765	C>-	Pathogenic	Coding sequence variant, stop gained
rs116840766	G>A,C,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs116840767	AA>-,A	Pathogenic	Frameshift variant, coding sequence variant, stop gained
rs116840768	C>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained
rs116840769	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs116840770	G>A	Pathogenic	Coding sequence variant, stop gained
rs121917709	G>A	Pathogenic	Coding sequence variant, stop gained
rs121917710	C>T	Benign-likely-benign, benign, likely-pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs121917711	C>A	Pathogenic	Coding sequence variant, stop gained
rs121917712	G>A	Pathogenic	Missense variant, coding sequence variant
rs121917713	G>A	Pathogenic	Coding sequence variant, stop gained
rs121917714	G>A	Pathogenic	Coding sequence variant, stop gained
rs121917715	G>A	Pathogenic	Coding sequence variant, stop gained
rs121917716	G>A	Likely-benign, uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs146582871	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs148226583	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149248727	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs199875457	A>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs398122899	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs748606221	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs758771584	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs760303531	A>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs772948115	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs779898173	G>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs780263938	G>C	Risk-factor	Coding sequence variant, missense variant
rs886039667	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043938	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1057518698	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057520063	->A	Pathogenic	Stop gained, coding sequence variant
rs1060499558	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793685	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796278	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1375768446	C>T	Likely-pathogenic	Splice donor variant
rs1554304247	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554304380	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554304508	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554306031	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554306093	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554306094	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554314581	->TGCTCTTGGGTGTCGAACTCCCTCGC	Pathogenic	Coding sequence variant, frameshift variant
rs1554314595	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554315071	GTTCAGAACCGTAGGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554317931	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562656759	C>A	Pathogenic	Coding sequence variant, stop gained
rs1562656975	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1562657370	->TAATCTGCCC	Likely-pathogenic	Coding sequence variant, stop gained, inframe indel
rs1562657560	TGACTCATT>A	Pathogenic	Coding sequence variant, frameshift variant
rs1562667078	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1562690271	C>T	Pathogenic	Coding sequence variant, stop gained
rs1583500982	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583505882	A>C	Pathogenic	Coding sequence variant, stop gained
rs1583728165	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583728402	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1583728570	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583729398	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583729562	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1583734240	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583747773	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583801167	TA>-	Pathogenic	Coding sequence variant, stop gained
rs1583805203	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048909	hsa-miR-93-5p	CLASH	23622248
MIRT043590	hsa-miR-148b-3p	CLASH	23622248
MIRT043590	hsa-miR-148b-3p	CLASH	23622248
MIRT035969	hsa-miR-1301-3p	CLASH	23622248
MIRT438838	hsa-miR-200c-3p	qRT-PCR	23294929
MIRT438838	hsa-miR-200c-3p	qRT-PCR	23294929
MIRT731322	hsa-miR-378a-3p	Luciferase reporter assay	27001906
MIRT731322	hsa-miR-378a-3p	Luciferase reporter assay	27001906
MIRT731322	hsa-miR-378a-3p	Luciferase reporter assay	27001906
MIRT731322	hsa-miR-378a-3p	Luciferase reporter assay	27001906
MIRT1020901	hsa-miR-1184	CLIP-seq
MIRT1020902	hsa-miR-1205	CLIP-seq
MIRT1020903	hsa-miR-1206	CLIP-seq
MIRT1020904	hsa-miR-1286	CLIP-seq
MIRT1020905	hsa-miR-1287	CLIP-seq
MIRT1020906	hsa-miR-1323	CLIP-seq
MIRT1020907	hsa-miR-1908	CLIP-seq
MIRT1020908	hsa-miR-194	CLIP-seq
MIRT1020909	hsa-miR-200b	CLIP-seq
MIRT1020910	hsa-miR-200c	CLIP-seq
MIRT1020911	hsa-miR-299-5p	CLIP-seq
MIRT1020912	hsa-miR-3135b	CLIP-seq
MIRT1020913	hsa-miR-3158-5p	CLIP-seq
MIRT1020914	hsa-miR-3180	CLIP-seq
MIRT1020915	hsa-miR-3180-3p	CLIP-seq
MIRT1020916	hsa-miR-3196	CLIP-seq
MIRT1020917	hsa-miR-346	CLIP-seq
MIRT1020918	hsa-miR-3659	CLIP-seq
MIRT1020919	hsa-miR-3920	CLIP-seq
MIRT1020920	hsa-miR-3942-5p	CLIP-seq
MIRT1020921	hsa-miR-4277	CLIP-seq
MIRT1020922	hsa-miR-4288	CLIP-seq
MIRT1020923	hsa-miR-429	CLIP-seq
MIRT1020924	hsa-miR-4328	CLIP-seq
MIRT1020925	hsa-miR-433	CLIP-seq
MIRT1020926	hsa-miR-4422	CLIP-seq
MIRT1020927	hsa-miR-4457	CLIP-seq
MIRT1020928	hsa-miR-4488	CLIP-seq
MIRT1020929	hsa-miR-4504	CLIP-seq
MIRT1020930	hsa-miR-4508	CLIP-seq
MIRT1020931	hsa-miR-4633-5p	CLIP-seq
MIRT1020932	hsa-miR-4643	CLIP-seq
MIRT1020933	hsa-miR-4658	CLIP-seq
MIRT1020934	hsa-miR-4666-5p	CLIP-seq
MIRT1020935	hsa-miR-4677-3p	CLIP-seq
MIRT1020936	hsa-miR-4679	CLIP-seq
MIRT1020937	hsa-miR-4697-5p	CLIP-seq
MIRT1020938	hsa-miR-4703-5p	CLIP-seq
MIRT1020939	hsa-miR-4719	CLIP-seq
MIRT1020940	hsa-miR-4722-5p	CLIP-seq
MIRT1020941	hsa-miR-4728-3p	CLIP-seq
MIRT1020942	hsa-miR-4731-3p	CLIP-seq
MIRT1020943	hsa-miR-4758-5p	CLIP-seq
MIRT1020944	hsa-miR-4762-3p	CLIP-seq
MIRT1020945	hsa-miR-4775	CLIP-seq
MIRT1020946	hsa-miR-4778-5p	CLIP-seq
MIRT1020947	hsa-miR-4801	CLIP-seq
MIRT1020948	hsa-miR-532-5p	CLIP-seq
MIRT1020949	hsa-miR-542-3p	CLIP-seq
MIRT1020950	hsa-miR-548a-3p	CLIP-seq
MIRT1020951	hsa-miR-548e	CLIP-seq
MIRT1020952	hsa-miR-548f	CLIP-seq
MIRT1020953	hsa-miR-548o	CLIP-seq
MIRT1020954	hsa-miR-549	CLIP-seq
MIRT1020955	hsa-miR-574-5p	CLIP-seq
MIRT1020956	hsa-miR-578	CLIP-seq
MIRT1020957	hsa-miR-581	CLIP-seq
MIRT1020958	hsa-miR-582-5p	CLIP-seq
MIRT1020959	hsa-miR-583	CLIP-seq
MIRT1020960	hsa-miR-590-3p	CLIP-seq
MIRT1020961	hsa-miR-600	CLIP-seq
MIRT1020962	hsa-miR-632	CLIP-seq
MIRT1020963	hsa-miR-654-3p	CLIP-seq
MIRT1020964	hsa-miR-663	CLIP-seq
MIRT1020965	hsa-miR-744	CLIP-seq
MIRT1020903	hsa-miR-1206	CLIP-seq
MIRT1020925	hsa-miR-433	CLIP-seq
MIRT1020903	hsa-miR-1206	CLIP-seq
MIRT2002489	hsa-miR-141	CLIP-seq
MIRT2002490	hsa-miR-200a	CLIP-seq
MIRT2002491	hsa-miR-296-3p	CLIP-seq
MIRT2002492	hsa-miR-3117-5p	CLIP-seq
MIRT2002493	hsa-miR-3174	CLIP-seq
MIRT2002494	hsa-miR-3183	CLIP-seq
MIRT2002495	hsa-miR-3197	CLIP-seq
MIRT2002496	hsa-miR-3612	CLIP-seq
MIRT2002497	hsa-miR-3662	CLIP-seq
MIRT2002498	hsa-miR-3909	CLIP-seq
MIRT2002499	hsa-miR-3925-5p	CLIP-seq
MIRT2002500	hsa-miR-3942-3p	CLIP-seq
MIRT2002501	hsa-miR-4316	CLIP-seq
MIRT2002502	hsa-miR-432	CLIP-seq
MIRT1020925	hsa-miR-433	CLIP-seq
MIRT2002503	hsa-miR-4443	CLIP-seq
MIRT1020927	hsa-miR-4457	CLIP-seq
MIRT2002504	hsa-miR-4505	CLIP-seq
MIRT1020931	hsa-miR-4633-5p	CLIP-seq
MIRT2002505	hsa-miR-4694-3p	CLIP-seq
MIRT2002506	hsa-miR-4704-5p	CLIP-seq
MIRT2002507	hsa-miR-4723-3p	CLIP-seq
MIRT2002508	hsa-miR-4731-5p	CLIP-seq
MIRT2002509	hsa-miR-485-5p	CLIP-seq
MIRT2002510	hsa-miR-513c	CLIP-seq
MIRT2002511	hsa-miR-514b-5p	CLIP-seq
MIRT1020948	hsa-miR-532-5p	CLIP-seq
MIRT2002512	hsa-miR-587	CLIP-seq
MIRT1020961	hsa-miR-600	CLIP-seq
MIRT2002513	hsa-miR-627	CLIP-seq
MIRT2002514	hsa-miR-637	CLIP-seq
MIRT2002515	hsa-miR-650	CLIP-seq
MIRT2002516	hsa-miR-720	CLIP-seq
MIRT2002517	hsa-miR-759	CLIP-seq
MIRT2002518	hsa-miR-921	CLIP-seq
MIRT2002519	hsa-miR-924	CLIP-seq
MIRT1020901	hsa-miR-1184	CLIP-seq
MIRT1020902	hsa-miR-1205	CLIP-seq
MIRT1020903	hsa-miR-1206	CLIP-seq
MIRT2235435	hsa-miR-1236	CLIP-seq
MIRT2235436	hsa-miR-124	CLIP-seq
MIRT2235437	hsa-miR-1257	CLIP-seq
MIRT1020904	hsa-miR-1286	CLIP-seq
MIRT2235438	hsa-miR-1302	CLIP-seq
MIRT2235439	hsa-miR-1303	CLIP-seq
MIRT1020906	hsa-miR-1323	CLIP-seq
MIRT2235440	hsa-miR-138	CLIP-seq
MIRT2235441	hsa-miR-149	CLIP-seq
MIRT2235442	hsa-miR-153	CLIP-seq
MIRT2235443	hsa-miR-154	CLIP-seq
MIRT2235444	hsa-miR-185	CLIP-seq
MIRT1020908	hsa-miR-194	CLIP-seq
MIRT1020909	hsa-miR-200b	CLIP-seq
MIRT1020910	hsa-miR-200c	CLIP-seq
MIRT2235445	hsa-miR-203	CLIP-seq
MIRT2235446	hsa-miR-2053	CLIP-seq
MIRT2235447	hsa-miR-214	CLIP-seq
MIRT2235448	hsa-miR-216a	CLIP-seq
MIRT2235449	hsa-miR-216b	CLIP-seq
MIRT2235450	hsa-miR-217	CLIP-seq
MIRT2235451	hsa-miR-223	CLIP-seq
MIRT2235452	hsa-miR-2909	CLIP-seq
MIRT2002491	hsa-miR-296-3p	CLIP-seq
MIRT2235453	hsa-miR-3064-5p	CLIP-seq
MIRT2002492	hsa-miR-3117-5p	CLIP-seq
MIRT2235454	hsa-miR-3120-3p	CLIP-seq
MIRT2235455	hsa-miR-3121-5p	CLIP-seq
MIRT2235456	hsa-miR-3123	CLIP-seq
MIRT2235457	hsa-miR-3143	CLIP-seq
MIRT2235458	hsa-miR-3151	CLIP-seq
MIRT1020913	hsa-miR-3158-5p	CLIP-seq
MIRT2235459	hsa-miR-3163	CLIP-seq
MIRT2235460	hsa-miR-3170	CLIP-seq
MIRT2002493	hsa-miR-3174	CLIP-seq
MIRT2002494	hsa-miR-3183	CLIP-seq
MIRT2235461	hsa-miR-3188	CLIP-seq
MIRT2002495	hsa-miR-3197	CLIP-seq
MIRT2235462	hsa-miR-326	CLIP-seq
MIRT2235463	hsa-miR-330-5p	CLIP-seq
MIRT1020917	hsa-miR-346	CLIP-seq
MIRT2002496	hsa-miR-3612	CLIP-seq
MIRT2235464	hsa-miR-3619-5p	CLIP-seq
MIRT2235465	hsa-miR-3652	CLIP-seq
MIRT1020918	hsa-miR-3659	CLIP-seq
MIRT2002497	hsa-miR-3662	CLIP-seq
MIRT2235466	hsa-miR-3714	CLIP-seq
MIRT2002498	hsa-miR-3909	CLIP-seq
MIRT2235467	hsa-miR-3910	CLIP-seq
MIRT2002499	hsa-miR-3925-5p	CLIP-seq
MIRT2002500	hsa-miR-3942-3p	CLIP-seq
MIRT2235468	hsa-miR-4264	CLIP-seq
MIRT2235469	hsa-miR-4265	CLIP-seq
MIRT2235470	hsa-miR-4266	CLIP-seq
MIRT1020921	hsa-miR-4277	CLIP-seq
MIRT2235471	hsa-miR-4281	CLIP-seq
MIRT2235472	hsa-miR-4287	CLIP-seq
MIRT1020922	hsa-miR-4288	CLIP-seq
MIRT1020923	hsa-miR-429	CLIP-seq
MIRT2235473	hsa-miR-4293	CLIP-seq
MIRT2235474	hsa-miR-4296	CLIP-seq
MIRT2235475	hsa-miR-4298	CLIP-seq
MIRT2235476	hsa-miR-4306	CLIP-seq
MIRT2235477	hsa-miR-4310	CLIP-seq
MIRT2235478	hsa-miR-4312	CLIP-seq
MIRT2002501	hsa-miR-4316	CLIP-seq
MIRT2002502	hsa-miR-432	CLIP-seq
MIRT2235479	hsa-miR-4322	CLIP-seq
MIRT1020924	hsa-miR-4328	CLIP-seq
MIRT1020925	hsa-miR-433	CLIP-seq
MIRT2235480	hsa-miR-4430	CLIP-seq
MIRT2235481	hsa-miR-4434	CLIP-seq
MIRT2002503	hsa-miR-4443	CLIP-seq
MIRT2235482	hsa-miR-4447	CLIP-seq
MIRT2235483	hsa-miR-4448	CLIP-seq
MIRT1020927	hsa-miR-4457	CLIP-seq
MIRT2235484	hsa-miR-4469	CLIP-seq
MIRT2235485	hsa-miR-4472	CLIP-seq
MIRT2235486	hsa-miR-4474-3p	CLIP-seq
MIRT2235487	hsa-miR-4477b	CLIP-seq
MIRT2002504	hsa-miR-4505	CLIP-seq
MIRT2235488	hsa-miR-4516	CLIP-seq
MIRT2235489	hsa-miR-4531	CLIP-seq
MIRT2235490	hsa-miR-455-3p	CLIP-seq
MIRT1020931	hsa-miR-4633-5p	CLIP-seq
MIRT2235491	hsa-miR-4637	CLIP-seq
MIRT1020932	hsa-miR-4643	CLIP-seq
MIRT2235492	hsa-miR-4644	CLIP-seq
MIRT1020933	hsa-miR-4658	CLIP-seq
MIRT1020934	hsa-miR-4666-5p	CLIP-seq
MIRT2235493	hsa-miR-4685-3p	CLIP-seq
MIRT2002505	hsa-miR-4694-3p	CLIP-seq
MIRT2235494	hsa-miR-4694-5p	CLIP-seq
MIRT2235495	hsa-miR-4695-5p	CLIP-seq
MIRT2002506	hsa-miR-4704-5p	CLIP-seq
MIRT2235496	hsa-miR-4713-5p	CLIP-seq
MIRT1020940	hsa-miR-4722-5p	CLIP-seq
MIRT2002507	hsa-miR-4723-3p	CLIP-seq
MIRT1020942	hsa-miR-4731-3p	CLIP-seq
MIRT2235497	hsa-miR-4759	CLIP-seq
MIRT2235498	hsa-miR-4773	CLIP-seq
MIRT2235499	hsa-miR-4779	CLIP-seq
MIRT2235500	hsa-miR-4790-3p	CLIP-seq
MIRT2235501	hsa-miR-4794	CLIP-seq
MIRT2235502	hsa-miR-4797-3p	CLIP-seq
MIRT1020947	hsa-miR-4801	CLIP-seq
MIRT2235503	hsa-miR-4803	CLIP-seq
MIRT2002509	hsa-miR-485-5p	CLIP-seq
MIRT2235504	hsa-miR-491-5p	CLIP-seq
MIRT2235505	hsa-miR-506	CLIP-seq
MIRT2235506	hsa-miR-509-3p	CLIP-seq
MIRT1020948	hsa-miR-532-5p	CLIP-seq
MIRT2235507	hsa-miR-539	CLIP-seq
MIRT2235508	hsa-miR-543	CLIP-seq
MIRT2235509	hsa-miR-544b	CLIP-seq
MIRT2235510	hsa-miR-545	CLIP-seq
MIRT1020950	hsa-miR-548a-3p	CLIP-seq
MIRT1020951	hsa-miR-548e	CLIP-seq
MIRT1020952	hsa-miR-548f	CLIP-seq
MIRT1020953	hsa-miR-548o	CLIP-seq
MIRT2235511	hsa-miR-548p	CLIP-seq
MIRT2235512	hsa-miR-548q	CLIP-seq
MIRT2235513	hsa-miR-548t	CLIP-seq
MIRT2235514	hsa-miR-569	CLIP-seq
MIRT1020955	hsa-miR-574-5p	CLIP-seq
MIRT2235515	hsa-miR-582-3p	CLIP-seq
MIRT2002512	hsa-miR-587	CLIP-seq
MIRT2235516	hsa-miR-596	CLIP-seq
MIRT1020962	hsa-miR-632	CLIP-seq
MIRT2235517	hsa-miR-642a	CLIP-seq
MIRT2002515	hsa-miR-650	CLIP-seq
MIRT1020963	hsa-miR-654-3p	CLIP-seq
MIRT2235518	hsa-miR-7	CLIP-seq
MIRT2002516	hsa-miR-720	CLIP-seq
MIRT2002517	hsa-miR-759	CLIP-seq
MIRT2235519	hsa-miR-761	CLIP-seq
MIRT2235520	hsa-miR-765	CLIP-seq
MIRT2235521	hsa-miR-889	CLIP-seq
MIRT2002518	hsa-miR-921	CLIP-seq
MIRT2235522	hsa-miR-935	CLIP-seq
MIRT1020906	hsa-miR-1323	CLIP-seq
MIRT2388491	hsa-miR-1587	CLIP-seq
MIRT2388492	hsa-miR-378g	CLIP-seq
MIRT2235471	hsa-miR-4281	CLIP-seq
MIRT2388493	hsa-miR-4492	CLIP-seq
MIRT2388494	hsa-miR-4498	CLIP-seq
MIRT2388495	hsa-miR-4656	CLIP-seq
MIRT2388496	hsa-miR-4675	CLIP-seq
MIRT2388497	hsa-miR-4741	CLIP-seq
MIRT2388498	hsa-miR-541	CLIP-seq
MIRT1020953	hsa-miR-548o	CLIP-seq
MIRT2388499	hsa-miR-654-5p	CLIP-seq
MIRT2388500	hsa-miR-762	CLIP-seq
MIRT2235466	hsa-miR-3714	CLIP-seq
MIRT2450349	hsa-miR-4307	CLIP-seq
MIRT2450350	hsa-miR-548an	CLIP-seq
MIRT2450351	hsa-miR-940	CLIP-seq
MIRT2539256	hsa-miR-1237	CLIP-seq
MIRT2235436	hsa-miR-124	CLIP-seq
MIRT2539257	hsa-miR-1248	CLIP-seq
MIRT2539258	hsa-miR-1266	CLIP-seq
MIRT2539259	hsa-miR-1275	CLIP-seq
MIRT2539260	hsa-miR-1276	CLIP-seq
MIRT2539261	hsa-miR-1279	CLIP-seq
MIRT2539262	hsa-miR-1294	CLIP-seq
MIRT2539263	hsa-miR-1299	CLIP-seq
MIRT2235439	hsa-miR-1303	CLIP-seq
MIRT1020906	hsa-miR-1323	CLIP-seq
MIRT2539264	hsa-miR-1470	CLIP-seq
MIRT2235442	hsa-miR-153	CLIP-seq
MIRT2235443	hsa-miR-154	CLIP-seq
MIRT2235444	hsa-miR-185	CLIP-seq
MIRT2539265	hsa-miR-1976	CLIP-seq
MIRT2235447	hsa-miR-214	CLIP-seq
MIRT2539266	hsa-miR-2278	CLIP-seq
MIRT2539267	hsa-miR-24	CLIP-seq
MIRT2539268	hsa-miR-2964a-3p	CLIP-seq
MIRT2539269	hsa-miR-298	CLIP-seq
MIRT2539270	hsa-miR-3064-3p	CLIP-seq
MIRT2002492	hsa-miR-3117-5p	CLIP-seq
MIRT2235456	hsa-miR-3123	CLIP-seq
MIRT2539271	hsa-miR-3125	CLIP-seq
MIRT2235457	hsa-miR-3143	CLIP-seq
MIRT2539272	hsa-miR-3150b-3p	CLIP-seq
MIRT2235459	hsa-miR-3163	CLIP-seq
MIRT2002493	hsa-miR-3174	CLIP-seq
MIRT2539273	hsa-miR-3175	CLIP-seq
MIRT2539274	hsa-miR-3179	CLIP-seq
MIRT2002494	hsa-miR-3183	CLIP-seq
MIRT2235461	hsa-miR-3188	CLIP-seq
MIRT2002495	hsa-miR-3197	CLIP-seq
MIRT2539275	hsa-miR-3202	CLIP-seq
MIRT2539276	hsa-miR-335	CLIP-seq
MIRT2002496	hsa-miR-3612	CLIP-seq
MIRT2235464	hsa-miR-3619-5p	CLIP-seq
MIRT2539277	hsa-miR-3622b-5p	CLIP-seq
MIRT2539278	hsa-miR-3657	CLIP-seq
MIRT2002497	hsa-miR-3662	CLIP-seq
MIRT2539279	hsa-miR-3664-3p	CLIP-seq
MIRT2235466	hsa-miR-3714	CLIP-seq
MIRT2002498	hsa-miR-3909	CLIP-seq
MIRT2235467	hsa-miR-3910	CLIP-seq
MIRT2539280	hsa-miR-3916	CLIP-seq
MIRT2002499	hsa-miR-3925-5p	CLIP-seq
MIRT2539281	hsa-miR-4279	CLIP-seq
MIRT2539282	hsa-miR-4284	CLIP-seq
MIRT2235476	hsa-miR-4306	CLIP-seq
MIRT2002501	hsa-miR-4316	CLIP-seq
MIRT2002502	hsa-miR-432	CLIP-seq
MIRT2539283	hsa-miR-4420	CLIP-seq
MIRT2002503	hsa-miR-4443	CLIP-seq
MIRT2539284	hsa-miR-4461	CLIP-seq
MIRT2539285	hsa-miR-4468	CLIP-seq
MIRT2235484	hsa-miR-4469	CLIP-seq
MIRT2235486	hsa-miR-4474-3p	CLIP-seq
MIRT2539286	hsa-miR-4496	CLIP-seq
MIRT2002504	hsa-miR-4505	CLIP-seq
MIRT2539287	hsa-miR-4518	CLIP-seq
MIRT2539288	hsa-miR-4525	CLIP-seq
MIRT2539289	hsa-miR-4533	CLIP-seq
MIRT2235492	hsa-miR-4644	CLIP-seq
MIRT2539290	hsa-miR-4659a-3p	CLIP-seq
MIRT2539291	hsa-miR-4659b-3p	CLIP-seq
MIRT2539292	hsa-miR-4665-5p	CLIP-seq
MIRT1020934	hsa-miR-4666-5p	CLIP-seq
MIRT2539293	hsa-miR-4667-3p	CLIP-seq
MIRT2539294	hsa-miR-4689	CLIP-seq
MIRT2539295	hsa-miR-4690-5p	CLIP-seq
MIRT2539296	hsa-miR-4691-5p	CLIP-seq
MIRT2002505	hsa-miR-4694-3p	CLIP-seq
MIRT2002506	hsa-miR-4704-5p	CLIP-seq
MIRT2539297	hsa-miR-4709-5p	CLIP-seq
MIRT2002507	hsa-miR-4723-3p	CLIP-seq
MIRT2539298	hsa-miR-4723-5p	CLIP-seq
MIRT2539299	hsa-miR-4738-3p	CLIP-seq
MIRT2539300	hsa-miR-4762-5p	CLIP-seq
MIRT2539301	hsa-miR-4766-5p	CLIP-seq
MIRT2235498	hsa-miR-4773	CLIP-seq
MIRT2539302	hsa-miR-4778-3p	CLIP-seq
MIRT2539303	hsa-miR-4782-5p	CLIP-seq
MIRT2539304	hsa-miR-4784	CLIP-seq
MIRT2539305	hsa-miR-4786-3p	CLIP-seq
MIRT2539306	hsa-miR-4802-3p	CLIP-seq
MIRT2235503	hsa-miR-4803	CLIP-seq
MIRT2002509	hsa-miR-485-5p	CLIP-seq
MIRT2235505	hsa-miR-506	CLIP-seq
MIRT2539307	hsa-miR-513a-3p	CLIP-seq
MIRT2539308	hsa-miR-516b	CLIP-seq
MIRT2235507	hsa-miR-539	CLIP-seq
MIRT1020953	hsa-miR-548o	CLIP-seq
MIRT2002512	hsa-miR-587	CLIP-seq
MIRT2539309	hsa-miR-625	CLIP-seq
MIRT2235517	hsa-miR-642a	CLIP-seq
MIRT2002515	hsa-miR-650	CLIP-seq
MIRT2002516	hsa-miR-720	CLIP-seq
MIRT2235519	hsa-miR-761	CLIP-seq
MIRT2235520	hsa-miR-765	CLIP-seq
MIRT2539310	hsa-miR-873	CLIP-seq
MIRT2002518	hsa-miR-921	CLIP-seq
MIRT2539311	hsa-miR-936	CLIP-seq
MIRT2539256	hsa-miR-1237	CLIP-seq
MIRT2235436	hsa-miR-124	CLIP-seq
MIRT2539257	hsa-miR-1248	CLIP-seq
MIRT2539259	hsa-miR-1275	CLIP-seq
MIRT2539261	hsa-miR-1279	CLIP-seq
MIRT2539263	hsa-miR-1299	CLIP-seq
MIRT2235439	hsa-miR-1303	CLIP-seq
MIRT1020906	hsa-miR-1323	CLIP-seq
MIRT2002489	hsa-miR-141	CLIP-seq
MIRT2539264	hsa-miR-1470	CLIP-seq
MIRT2235442	hsa-miR-153	CLIP-seq
MIRT2235443	hsa-miR-154	CLIP-seq
MIRT2235444	hsa-miR-185	CLIP-seq
MIRT2539265	hsa-miR-1976	CLIP-seq
MIRT2002490	hsa-miR-200a	CLIP-seq
MIRT2235447	hsa-miR-214	CLIP-seq
MIRT2539267	hsa-miR-24	CLIP-seq
MIRT2539268	hsa-miR-2964a-3p	CLIP-seq
MIRT2539270	hsa-miR-3064-3p	CLIP-seq
MIRT2002492	hsa-miR-3117-5p	CLIP-seq
MIRT2235456	hsa-miR-3123	CLIP-seq
MIRT2539271	hsa-miR-3125	CLIP-seq
MIRT2235457	hsa-miR-3143	CLIP-seq
MIRT2235458	hsa-miR-3151	CLIP-seq
MIRT2681633	hsa-miR-3160-3p	CLIP-seq
MIRT2235459	hsa-miR-3163	CLIP-seq
MIRT2235460	hsa-miR-3170	CLIP-seq
MIRT2002493	hsa-miR-3174	CLIP-seq
MIRT2539273	hsa-miR-3175	CLIP-seq
MIRT2539274	hsa-miR-3179	CLIP-seq
MIRT2002494	hsa-miR-3183	CLIP-seq
MIRT2235461	hsa-miR-3188	CLIP-seq
MIRT2002495	hsa-miR-3197	CLIP-seq
MIRT2539275	hsa-miR-3202	CLIP-seq
MIRT2539276	hsa-miR-335	CLIP-seq
MIRT2002496	hsa-miR-3612	CLIP-seq
MIRT2235464	hsa-miR-3619-5p	CLIP-seq
MIRT2539277	hsa-miR-3622b-5p	CLIP-seq
MIRT2539278	hsa-miR-3657	CLIP-seq
MIRT2002497	hsa-miR-3662	CLIP-seq
MIRT2235466	hsa-miR-3714	CLIP-seq
MIRT2002498	hsa-miR-3909	CLIP-seq
MIRT2235467	hsa-miR-3910	CLIP-seq
MIRT2539280	hsa-miR-3916	CLIP-seq
MIRT2002499	hsa-miR-3925-5p	CLIP-seq
MIRT2235469	hsa-miR-4265	CLIP-seq
MIRT2539281	hsa-miR-4279	CLIP-seq
MIRT2539282	hsa-miR-4284	CLIP-seq
MIRT2235474	hsa-miR-4296	CLIP-seq
MIRT2235476	hsa-miR-4306	CLIP-seq
MIRT2002501	hsa-miR-4316	CLIP-seq
MIRT2002502	hsa-miR-432	CLIP-seq
MIRT2235479	hsa-miR-4322	CLIP-seq
MIRT2539283	hsa-miR-4420	CLIP-seq
MIRT2002503	hsa-miR-4443	CLIP-seq
MIRT2235482	hsa-miR-4447	CLIP-seq
MIRT2539284	hsa-miR-4461	CLIP-seq
MIRT2235484	hsa-miR-4469	CLIP-seq
MIRT2235485	hsa-miR-4472	CLIP-seq
MIRT2235486	hsa-miR-4474-3p	CLIP-seq
MIRT2002504	hsa-miR-4505	CLIP-seq
MIRT2539288	hsa-miR-4525	CLIP-seq
MIRT2539289	hsa-miR-4533	CLIP-seq
MIRT2235492	hsa-miR-4644	CLIP-seq
MIRT2539290	hsa-miR-4659a-3p	CLIP-seq
MIRT2539291	hsa-miR-4659b-3p	CLIP-seq
MIRT2539292	hsa-miR-4665-5p	CLIP-seq
MIRT2539293	hsa-miR-4667-3p	CLIP-seq
MIRT2539295	hsa-miR-4690-5p	CLIP-seq
MIRT2539296	hsa-miR-4691-5p	CLIP-seq
MIRT2002505	hsa-miR-4694-3p	CLIP-seq
MIRT2002506	hsa-miR-4704-5p	CLIP-seq
MIRT2002507	hsa-miR-4723-3p	CLIP-seq
MIRT2539298	hsa-miR-4723-5p	CLIP-seq
MIRT2539299	hsa-miR-4738-3p	CLIP-seq
MIRT2539300	hsa-miR-4762-5p	CLIP-seq
MIRT2539301	hsa-miR-4766-5p	CLIP-seq
MIRT2235498	hsa-miR-4773	CLIP-seq
MIRT2539302	hsa-miR-4778-3p	CLIP-seq
MIRT2539303	hsa-miR-4782-5p	CLIP-seq
MIRT2539305	hsa-miR-4786-3p	CLIP-seq
MIRT2539306	hsa-miR-4802-3p	CLIP-seq
MIRT2235503	hsa-miR-4803	CLIP-seq
MIRT2002509	hsa-miR-485-5p	CLIP-seq
MIRT2235504	hsa-miR-491-5p	CLIP-seq
MIRT2235505	hsa-miR-506	CLIP-seq
MIRT2681634	hsa-miR-511	CLIP-seq
MIRT2539307	hsa-miR-513a-3p	CLIP-seq
MIRT2539308	hsa-miR-516b	CLIP-seq
MIRT2235507	hsa-miR-539	CLIP-seq
MIRT1020953	hsa-miR-548o	CLIP-seq
MIRT2002512	hsa-miR-587	CLIP-seq
MIRT2539309	hsa-miR-625	CLIP-seq
MIRT2235517	hsa-miR-642a	CLIP-seq
MIRT2002515	hsa-miR-650	CLIP-seq
MIRT2002516	hsa-miR-720	CLIP-seq
MIRT2235519	hsa-miR-761	CLIP-seq
MIRT2235520	hsa-miR-765	CLIP-seq
MIRT2002518	hsa-miR-921	CLIP-seq
MIRT2539311	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10693759
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	12435627, 19084012
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	18298960
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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	2118997
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001656	Process	Metanephros development	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10077605, 17000779, 17764085
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	10564661, 11238441, 12435627, 16371461, 17000779, 17764085, 19389374, 19592253, 19955409, 23955340, 24311597, 28965847, 29263200, 35140242
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10693759, 11238441, 12435627, 16254602, 18559511
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	10077605, 11238441, 12435627
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	18559511
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IDA	16254602, 19592253
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	24311597
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:0006606	Process	Protein import into nucleus	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IDA	31279575
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	TAS	11001584
GO:0007389	Process	Pattern specification process	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007442	Process	Hindgut morphogenesis	IEA
GO:0007507	Process	Heart development	IEA
GO:0008013	Function	Beta-catenin binding	IPI	17331723
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0017053	Component	Transcription repressor complex	IEA
GO:0021513	Process	Spinal cord dorsal/ventral patterning	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0021543	Process	Pallium development	IEA
GO:0021544	Process	Subpallium development	IEA
GO:0021631	Process	Optic nerve morphogenesis	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021775	Process	Smoothened signaling pathway involved in ventral spinal cord interneuron specification	IEA
GO:0021776	Process	Smoothened signaling pathway involved in spinal cord motor neuron cell fate specification	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IEA
GO:0021801	Process	Cerebral cortex radial glia-guided migration	IEA
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021861	Process	Forebrain radial glial cell differentiation	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0022018	Process	Lateral ganglionic eminence cell proliferation	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030879	Process	Mammary gland development	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0035035	Function	Histone acetyltransferase binding	IPI	10075717
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035108	Process	Limb morphogenesis	IMP	9354785, 18478223
GO:0035295	Process	Tube development	IEA
GO:0036033	Function	Mediator complex binding	IDA	17000779
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	TAS	11001584
GO:0042826	Function	Histone deacetylase binding	IDA	12435627
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043585	Process	Nose morphogenesis	TAS	11001584
GO:0043586	Process	Tongue development	IEA
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0045060	Process	Negative thymic T cell selection	ISS
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12435627, 16254602, 19084012
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17000779
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18559511
GO:0046632	Process	Alpha-beta T cell differentiation	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	ISS
GO:0046639	Process	Negative regulation of alpha-beta T cell differentiation	IEA
GO:0046639	Process	Negative regulation of alpha-beta T cell differentiation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048566	Process	Embryonic digestive tract development	IEA
GO:0048566	Process	Embryonic digestive tract development	TAS	11001584
GO:0048589	Process	Developmental growth	IEA
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048702	Process	Embryonic neurocranium morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060364	Process	Frontal suture morphogenesis	IEA
GO:0060366	Process	Lambdoid suture morphogenesis	IEA
GO:0060367	Process	Sagittal suture morphogenesis	IEA
GO:0060594	Process	Mammary gland specification	IEA
GO:0060831	Process	Smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:0060840	Process	Artery development	IEA
GO:0060873	Process	Anterior semicircular canal development	IEA
GO:0060875	Process	Lateral semicircular canal development	IEA
GO:0061005	Process	Cell differentiation involved in kidney development	IEA
GO:0070242	Process	Thymocyte apoptotic process	IEA
GO:0070242	Process	Thymocyte apoptotic process	ISS
GO:0071625	Process	Vocalization behavior	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	17331723
GO:0097542	Component	Ciliary tip	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097546	Component	Ciliary base	IEA
GO:0097546	Component	Ciliary base	TAS
GO:0120223	Process	Larynx morphogenesis	IEA
GO:1903010	Process	Regulation of bone development	IEA
GO:1990788	Component	GLI-SUFU complex	IPI	24311597
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

Other IDs

• MIM: 165240
• HGNC: 4319
• e!Ensembl: ENSG00000106571

Protein

• UniProt ID: P10071
• Protein name: Transcriptional activator GLI3 (GLI3 form of 190 kDa) (GLI3-190) (GLI3 full-length protein) (GLI3FL) [Cleaved into: Transcriptional repressor GLI3R (GLI3 C-terminally truncated form) (GLI3 form of 83 kDa) (GLI3-83)]
• Protein function: Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activato
• PDB: 4BLD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	513 → 540	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	546 → 570	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	576 → 601	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	607 → 632	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium.
• Sequence:

  MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITM
  QPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEP
  HYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHMTSALSSSPTYPDLPFIRISPHR
  NPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISATRGLSPTDAPHAGVSPAEYYHQ
  MALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFSSPRLSARPSRKRTLSISPLS
  DHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTYSSAPVSLHMH
  QQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQNKPTSE
  SAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGTTLVKEEGDKDESKQEPEVIYET
  NCHWEGCAREFDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRH
  TGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRT
  HSNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPEAHVTKKQRGDIHPRPPPPRDSGSHS
  QSRSPGRPTQGALGEQQDLSNTTSKREECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPI
  SNYSNSGLELPLTDGGSIGDLSAIDETPIMDSTISTATTALALQARRNPAGTKWMEHVKL
  ERLKQVNGMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLPGRSDLSGVDVTM
  LNMLNRRDSSASTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPIST
  DASRRSSEASQSDGLPSLLSLTPAQQYRLKAKYAAATGGPPPTPLPNMERMSLKTRLALL
  GDALEPGVALPPVHAPRRCSDGGAHGYGRRHLQPHDAPGHGVRRASDPVRTGSEGLALPR
  VPRFSSLSSCNPPAMATSAEKRSLVLQNYTRPEGGQSRNFHSSPCPPSITENVTLESLTM
  DADANLNDEDFLPDDVVQYLNSQNQAGYEQHFPSALPDDSKVPHGPGDFDAPGLPDSHAG
  QQFHALEQPCPEGSKTDLPIQWNEVSSGSADLSSSKLKCGPRPAVPQTRAFGFCNGMVVH
  PQNPLRSGPAGGYQTLGENSNPYGGPEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNR
  QPVAPGALDGACGAGIQASKLKSTPMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQ
  GYLAHQLLGDSMQHPGAGRPGQQMLGQISATSHINIYQGPESCLPGAHGMGSQPSSLAVV
  RGYQPCASFGGSRRQAMPRDSLALQSGQLSDTSQTCRVNGIKMEMKGQPHPLCSNLQNYS
  GQFYDQTVGFSQQDTKAGSFSISDASCLLQGTSAKNSELLSPGANQVTSTVDSLDSHDLE
  GVQIDFDAIIDDGDHSSLMSGALSPSIIQNLSHSSSRLTTPRASLPFPALSMSTTNMAIG
  DMSSLLTSLAEESKFLAVMQ

• Sequence length: 1580

Pathways

KEGG:

cAMP signaling pathway
Hedgehog signaling pathway
Pathways in cancer
Basal cell carcinoma

Reactome:

GLI3 is processed to GLI3R by the proteasome
Hedgehog 'off' state
Hedgehog 'on' state
GLI proteins bind promoters of Hh responsive genes to promote transcription

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
Abnormality of prenatal development or birth	Pathogenic	rs121917709	RCV001836708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLI3-related disorder	Pathogenic; Likely pathogenic	rs2128705618, rs2484374381, rs1562656975, rs2484638597, rs2484371899, rs1382875512, rs2484380066, rs2484361638, rs121917709, rs121917714, rs1375768446, rs780256503, rs1057520063	RCV004733380 RCV003335857 RCV004528642 RCV004534302 RCV004536757 RCV004528057 RCV004529263 RCV004527966 RCV004528110 RCV004732544 RCV004532036 RCV004532025 RCV005863137	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Greig cephalopolysyndactyly syndrome	Likely pathogenic; Pathogenic	rs2128738764, rs2128705693, rs2128709888, rs2128705042, rs2128705420, rs781422192, rs2128710014, rs2128712235, rs2128732074, rs2128742651, rs2128741200, rs2128705618, rs2128705204, rs148043302, rs2128742642, rs2128710024, rs2128704887, rs2128706417, rs2128704828, rs2128751733, rs2128704974, rs1462048687, rs2484805385, rs779898173, rs2485050014, rs2484370505, rs2484391036, rs2484717434, rs2484717536, rs2484444399, rs2484693664, rs2484364138, rs2484805390, rs121917711, rs121917712, rs121917713, rs121917714, rs121917715, rs2128704804, rs1583500982, rs528703005, rs2484364434, rs2484367143, rs2484372572, rs2484367171, rs2484364568, rs2484717396, rs2484450103, rs2484380642, rs2484366559, rs2484647959, rs2484378113, rs2484390976, rs2484363262, rs1057520063, rs772948115, rs1554306093, rs1554304380, rs116840770, rs1554317931, rs1554306094, rs1375768446, rs116840766, rs1562656759, rs1562690271, rs1562657560, rs1583747773, rs1583801167, rs1583805203, rs1583505882, rs1583728165, rs1583728402, rs1787127981, rs1787131313, rs1787146494, rs1784103136, rs1784103216, rs1788520333, rs1399654830, rs1787098071, rs1787182897, rs1787109472, rs1787394130	RCV001379344 RCV001388671 RCV001385743 RCV001450017 RCV001450029 RCV001450018 RCV002501578 RCV001450020 RCV001450027 RCV001450023 RCV001730107 RCV005225496 RCV001918776 RCV001924251 RCV001894291 RCV001888445 RCV002042151 RCV001935371 RCV001895418 RCV002227906 RCV002255230 RCV002470432 RCV002820371 RCV002889144 RCV002847628 RCV002871660 RCV002871086 RCV002898865 RCV002872385 RCV002877275 RCV002907614 RCV002938784 RCV003008916 RCV000014833 RCV000014835 RCV000014837 RCV000014840 RCV000014842 RCV000014844 RCV000014845 RCV003806113 RCV003806840 RCV003805564 RCV003803344 RCV003801235 RCV003804681 RCV003802161 RCV003813457 RCV003815627 RCV003813149 RCV003985969 RCV003986033 RCV003991530 RCV004557280 RCV000634034 RCV000503394 RCV000549394 RCV000534797 RCV000814115 RCV000627064 RCV000634035 RCV000634032 RCV000634030 RCV000686853 RCV000701080 RCV000700476 RCV000796308 RCV000806324 RCV000822914 RCV000799089 RCV000856781 RCV000987864 RCV001056604 RCV001047710 RCV001054833 RCV001036674 RCV001063154 RCV001071422 RCV001041488 RCV001221370 RCV001223594 RCV001248778 RCV001255861	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Greig cephalopolysyndactyly syndrome, severe	Pathogenic	rs28933372	RCV000030896	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hand polydactyly	Likely pathogenic	rs2128712794	RCV001526399	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pallister-Hall syndrome	Likely pathogenic; Pathogenic	rs2128738764, rs2128705693, rs2128709888, rs2128705042, rs781422192, rs2128710014, rs758667297, rs2128706315, rs2128705618, rs2128705204, rs148043302, rs2128742642, rs2128710024, rs2128704887, rs2128706417, rs2128704828, rs200230864, rs2484380551, rs2484805385, rs779898173, rs2485050014, rs2484370505, rs2484391036, rs2484717434, rs2484717536, rs2484444399, rs2484693664, rs2484364138, rs2484805390, rs116840744, rs116840743, rs116840768, rs121917713, rs121917714, rs116840754, rs528703005, rs2484364434, rs2484367143, rs2484372572, rs2484367171, rs2484364568, rs2484717396, rs2484450103, rs2484380642, rs2484366559, rs2484647959, rs2484378113, rs2484390976, rs1057520063, rs1554306093, rs1554304380, rs116840767, rs116840770, rs1554306094, rs1375768446, rs116840766, rs1562656759, rs1562690271, rs1562657560, rs1583747773, rs1583801167, rs1583805203, rs1583505882, rs1787127981, rs1787131313, rs1787146494, rs1784103136, rs1784103216, rs1788520333, rs1399654830, rs1787098071, rs1787182897	RCV001379344 RCV001388671 RCV001385743 RCV001865919 RCV002246386 RCV002501578 RCV001775287 RCV001775307 RCV005225496 RCV001918776 RCV001924251 RCV001894291 RCV001888445 RCV002042151 RCV001935371 RCV001895418 RCV002251098 RCV002286458 RCV002820371 RCV002889144 RCV002847628 RCV002871660 RCV002871086 RCV002898865 RCV002872385 RCV002877275 RCV002907614 RCV002938784 RCV003008916 RCV000014825 RCV000014826 RCV000014829 RCV000554724 RCV001047666 RCV000014841 RCV003806113 RCV003806840 RCV003805564 RCV003803344 RCV003801235 RCV003804681 RCV003802161 RCV003813457 RCV003815627 RCV003813149 RCV003985969 RCV003986033 RCV003991530 RCV000634034 RCV000549394 RCV000534797 RCV003123330 RCV000814115 RCV000634035 RCV000634032 RCV000634030 RCV000686853 RCV000701080 RCV000700476 RCV000796308 RCV000806324 RCV000822914 RCV000799089 RCV001056604 RCV001047710 RCV001054833 RCV001036674 RCV001063154 RCV001071422 RCV001041488 RCV001221370 RCV001223594	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polydactyly, postaxial, type A1	Likely pathogenic; Pathogenic	rs2128706319, rs2128709879, rs2128709905, rs2128710014, rs2128710017, rs2128732140, rs2128742651, rs1366557334, rs2128704936, rs2128712297, rs121917714, rs2484647959, rs2484378113, rs2484390976, rs1057518698, rs1060499558, rs1375768446	RCV001450026 RCV001450025 RCV001450030 RCV001450019 RCV001450028 RCV001450024 RCV001450023 RCV001450022 RCV002226960 RCV002251138 RCV001450016 RCV003985969 RCV003986033 RCV003991530 RCV000415028 RCV000454366 RCV001450021	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
polysyndactyly	Pathogenic	rs1787147868	RCV001255957	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polysyndactyly 4	Pathogenic; Likely pathogenic	rs2128710014, rs1356013382, rs151222023, rs1583729562, rs121917713, rs121917714, rs2484647959, rs2484378113, rs2484390976	RCV002501578 RCV002264892 RCV002272931 RCV000014828 RCV000014838 RCV005031437 RCV003985969 RCV003986033 RCV003991530	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Postaxial polydactyly type A	Likely pathogenic	rs1198699106	RCV003228739	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly type B	Likely pathogenic; Pathogenic	rs1198699106, rs1583734240	RCV003228739 RCV000014839	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly, type A1/B	Pathogenic	rs1583729398, rs121917709, rs398122899	RCV000014830 RCV000014831 RCV000032707	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACROCALLOSAL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF TIBIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	risk factor	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital hypothalamic hamartoma syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cronkhite-Canada syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL ABSENCE OF TOOTH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PILOSEBACEOUS UNIT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMPHYSEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Functional motor deficit	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized dystonia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLI3-related postaxial polydactyly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, susceptibility to, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYDACTYLY, POSTAXIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, PREAXIAL 4	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, PREAXIAL IV	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Postaxial polydactyly	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTAXIAL POLYDACTYLY, TYPE B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULNAR POLYDACTYLY OF FINGERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WHITE SUTTON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
1-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
1-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
1-5 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
3-4 finger cutaneous syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aarskog syndrome	Aarskog Syndrome	BEFREE	1650914, 9302279		★☆☆☆☆ Found in Text Mining only
Acrania	Acrania	CTD_human_DG	16359493		★☆☆☆☆ Found in Text Mining only
Acrocallosal Syndrome	Acrocallosal Syndrome	BEFREE	12414818, 17937435, 20583172, 23633388, 30445565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acrocallosal Syndrome	Acrocallosal Syndrome	ORPHANET_DG	12414818, 23633388		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acrocallosal syndrome	Acrocallosal Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acrocallosal syndrome, Schinzel type	Acrocallosal Syndrome	ORPHANET_DG	12414818, 23633388		★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	BEFREE	21326280		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15390181		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28487292		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17461467, 19432668		★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	12115313, 18288402		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26071364		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	32591344, 35436645	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28577822	Associate	★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	23549991, 24278334	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos with limb anomalies	Anophthalmia	Pubtator	32591344	Associate	★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	11485934		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29019477		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29019477		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	BEFREE	8711131		★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis, Suppurative	Suppurative arthritis	BEFREE	28236224		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31010437	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	16466630		★☆☆☆☆ Found in Text Mining only
Bilateral postaxial polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30100065		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone disease	Pubtator	31399769	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11563634		★☆☆☆☆ Found in Text Mining only
Branchiootic syndrome	Branchiootic Syndrome	BEFREE	29257230		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10071197, 21442356, 30196104		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29034935, 33990369	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23736020	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	30754660	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	18636275	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29722127, 39174588	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30100065		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35266008	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	9349822, 9892966		★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24608427, 29967343, 30210595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	24608427, 29967343, 30210595		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	12115313, 18288402, 21572341		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	36830605	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	14608643		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11563634, 22227409		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22227409		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23176625		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33506047	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of tibia	Tibial hemimelia	BEFREE	26791356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of tibia	Tibial hemimelia	ORPHANET_DG	26791356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	28315472		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19429598		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	LHGDN	17029207		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	30691450	Associate	★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	18154020		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	19729595		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29557300		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29557300		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29557300		★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	16359493		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	21326280	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	20570969, 20583172, 21082653, 22547067, 23633388, 29437519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29502127, 30624469		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	22653747		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28973407		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35436645	Associate	★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	16359493		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgnathia complex	Dysgnathia complex	Pubtator	24736735	Associate	★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	19432668		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29980254		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29980254	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	18252217		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	23442119, 24819706, 29257230		★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	16359493		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	38233474	Associate	★☆☆☆☆ Found in Text Mining only
FG syndrome	FG Syndrome	BEFREE	30729724		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27001906, 31258681, 31548167		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	35436645	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Agenesis Of	Gallbladder agenesis	Pubtator	29368652	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder, Agenesis Of	Agenesis Of Gallbladder	BEFREE	29368652		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	29555575		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27793025	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gelastic Epilepsy	Epilepsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12241103, 12435627, 18288402		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12435627, 18288402		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11563634		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30730955	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28884880		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gonadotropin deficiency	Gonadotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Greig cephalopolysyndactyly syndrome	Greig Cephalopolysyndactyly Syndrome	BEFREE	10077605, 10441342, 12414818, 12794692, 14608643, 15739154, 15811011, 1650914, 18154020, 18241058, 18435847, 19829694, 20201963, 21326280, 22043488, 22547067, 22903559, 23633388, 24667698, 24736735, 26508445, 29368652, 30562203, 31325247, 7814032, 8001967, 8387379, 9054938, 9192261, 9302279		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Greig cephalopolysyndactyly syndrome	Greig Cephalopolysyndactyly Syndrome	ORPHANET_DG	10441342, 12794692, 18435847		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Greig cephalopolysyndactyly syndrome	Greig Cephalopolysyndactyly Syndrome	UNIPROT_DG	10441342, 12414818, 12794692, 9302279		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Greig cephalopolysyndactyly syndrome	Greig Cephalopolysyndactyly Syndrome	CTD_human_DG	10441342, 14608643, 15739154, 18154020, 18241058, 9302279		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Greig cephalopolysyndactyly syndrome	Greig Cephalopolysyndactyly Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Greig cephalopolysyndactyly syndrome	Greig Cephalopolysyndactyly Syndrome	GENOMICS_ENGLAND_DG	10441570, 15739154, 20583172, 24736735, 31115189		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Greig cephalopolysyndactyly syndrome	Greig Cephalopolysyndactyly Syndrome	CLINVAR_DG	10441570, 15739154, 20672375, 24736735, 26508445, 27231705		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hamartoma	Hamartoma	LHGDN	18057317, 18252217		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	19449422		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	35134468	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	24816253		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28673820, 28877722, 29515120, 9764827		★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	27106250, 28236224		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	29601828		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21531006	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	22383895, 27924807		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	25265279	Inhibit	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrometrocolpos	Hydrometrocolpos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	23052658, 28615245, 29109083		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	Pubtator	27279789	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis Due To Pujo	Hydronephrosis	BEFREE	27279789		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	27106250		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	24278334		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	18397875		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	CTD_human_DG	18397875		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the epiglottis	Hypoplasia of the epiglottis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	BEFREE	18252217, 27453577, 28429635		★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	GENOMICS_ENGLAND_DG	31115189		★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	14608643		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	26755652	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18787102		★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	16359493		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23091001	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	30729724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interfrontal craniofaciosynostosis	Interfrontal Craniofaciosynostosis	BEFREE	20583172		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	31767679		★☆☆☆☆ Found in Text Mining only
Langer-Giedion Syndrome	Langer-Giedion Syndrome	BEFREE	16688753		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	28577822	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32708452	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28487292		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	16874813, 18000979		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17440069, 27001906, 29908118		★☆☆☆☆ Found in Text Mining only
Lujan Fryns syndrome	Lujan-Fryns Syndrome	BEFREE	30729724		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	40311306	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18636275	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	10071197, 21442356, 30196104		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29722127		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20814245, 29315756		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28877722		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	24816253		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29555575		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30100065		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29967343, 30196104		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24608427, 29967343, 30210595		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11563634, 22227409		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	12115313, 18288402		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	12115313	Associate	★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29502127, 30624469		★☆☆☆☆ Found in Text Mining only
Microglossia	Microglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mohr Syndrome	Mohr Syndrome	BEFREE	23732295		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17351341, 19729595		★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31944163	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18252217, 24608427, 25103784, 27001906, 28877722, 29034935, 30272273, 9764827		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	16359493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	BEFREE	31139930		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	16359493		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18288402		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19008013, 23736020		★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodactyly	Oligodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	24278334		★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome 9	Orofaciodigital syndrome	Pubtator	10441570	Associate	★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	BEFREE	20672375		★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	BEFREE	20672375		★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	20672375	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26282181		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35134468	Associate	★☆☆☆☆ Found in Text Mining only
Pallister-Hall syndrome	Pallister-Hall Syndrome	BEFREE	10077605, 10441342, 10441570, 15739154, 16007608, 18252217, 18632939, 19449422, 19829694, 20201963, 21108399, 22903559, 24667698, 24736735, 25267529, 25424727, 26604140, 28224613, 28429635, 29368652, 30562203, 9054938, 9192261, 9440116		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pallister-Hall syndrome	Pallister-Hall Syndrome	CLINVAR_DG	10441570, 15739154, 20672375, 24736735, 26508445, 27231705		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pallister-Hall syndrome	Pallister-Hall Syndrome	GENOMICS_ENGLAND_DG	10441570, 15739154, 29204208, 31115189, 9054938		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pallister-Hall syndrome	Pallister-Hall Syndrome	LHGDN	12575661		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pallister-Hall syndrome	Pallister-Hall Syndrome	CTD_human_DG	15739154, 21532573		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pallister-Hall syndrome	Pallister-Hall Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20814245, 29315756		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20814245, 35867772	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	30036521		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	10441342, 10725236, 16865294, 18178536, 20201963, 20672375, 23435486, 23633388, 24020795, 24667698, 25267529, 26508445, 27305983, 27352137, 28224613, 28315472, 30562203, 30848202, 31115189, 31306531, 31706290		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polydactyly	Polydactyly	Pubtator	10441570, 18178536, 25267529, 28488682, 31115189, 32591344, 35034092, 35436645	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polydactyly	Polydactyly	CTD_human_DG	17688467		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	31115189		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polydactyly	Polydactyly	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polydactyly affecting the 3rd finger	Polydactyly Of Fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly affecting the 4th finger	Polydactyly Of Fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	BEFREE	20201963, 7814032, 9440116		★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	10441570, 22903559, 25267529, 31115189, 32591344	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	25267529	Stimulate	★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial 4	Polydactyly	Pubtator	32591344	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	BEFREE	15811011		★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	Pubtator	22903559	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	BEFREE	11973619, 12734547, 15811011, 21877132, 25267529, 26508445, 30235038, 30562203, 31115189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	Polydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	Polydactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly, Postaxial, Type A1	Polydactyly	UNIPROT_DG	10441570		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polydactyly, Postaxial, Type A1	Polydactyly	GENOMICS_ENGLAND_DG	10441570, 31115189		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polydactyly, Postaxial, Type A1	Polydactyly	BEFREE	20583172		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polydactyly, Postaxial, Type A1	Polydactyly	CLINVAR_DG	28315472, 9354785		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polydactyly, Postaxial, Type A1	Polydactyly	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polydactyly, preaxial 4	Polydactyly	ORPHANET_DG	26394607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly, preaxial 4	Polydactyly	GENOMICS_ENGLAND_DG	31115189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly, preaxial 4	Polydactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly, preaxial 4	Polydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polysyndactyly	Polysyndactyly	BEFREE	20583172		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polysyndactyly	Polysyndactyly	ORPHANET_DG	26394607		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postaxial polydactyly type A	Polydactyly	BEFREE	10441570, 15390181		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly type A	Polydactyly	ORPHANET_DG	22428873, 26394607		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly type A	Polydactyly	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly type A	Polydactyly	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POSTAXIAL POLYDACTYLY, TYPE B	Postaxial polydactyly	ORPHANET_DG	18000979, 26394607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTAXIAL POLYDACTYLY, TYPE B	Postaxial polydactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15390181		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	23000144		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28877722		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	19095771		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28877722, 29429990	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	22653747, 23426477, 27106250		★☆☆☆☆ Found in Text Mining only
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	BEFREE	27106250		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	BEFREE	28884880		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	26193634		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30679988		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	38233474	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	26282181		★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	7987323		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	21326280		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35839307, 36619306	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	34651371	Associate	★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	BEFREE	21326280		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schnitzler Syndrome	Schnitzler Syndrome	BEFREE	22653747		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary growth hormone deficiency	Growth Hormone Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	27342034	Associate	★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	16359493		★☆☆☆☆ Found in Text Mining only
Split foot	Split Hand Foot Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30272273		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30272273, 32899202	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29555575		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24598828, 33900127, 36981021	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	24816253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Supernumerary metacarpal bone	Supernumerary Metacarpal Bone	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	LHGDN	12575661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	BEFREE	12734547, 15811011, 25267529		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	Pubtator	25267529, 32253825	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly, type 2	Syndactyly	BEFREE	31706290		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	BEFREE	20570969		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	27106250		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	29019477, 29653670, 29855069, 30624469		★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	16359493		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	37208504	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	32696176	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	25777356, 9302279		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	BEFREE	20583172, 21326280		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	CLINVAR_DG	28315472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20858759	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only