Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51684
Gene name	SUFU negative regulator of hedgehog signaling
Gene symbol	SUFU
Synonyms (NCBI Gene)	BCNS2JBTS32PRO1280SUFUHSUFUXL
Chromosome	10
Chromosome location	10q24.32
Summary	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedge

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SNP ID	Visualize variation	Clinical significance	Consequence
rs144158469	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs149513330	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs202247756	C>T	Risk-factor	Coding sequence variant, missense variant
rs587776578	G>A,C	Pathogenic	Splice donor variant
rs1060501105	A>T	Likely-pathogenic	Splice acceptor variant
rs1060501108	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060501109	C>T	Pathogenic	Stop gained, coding sequence variant
rs1477199832	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554841447	G>A	Likely-pathogenic	Splice acceptor variant
rs1554852272	A>G	Pathogenic	Missense variant, coding sequence variant
rs1554852279	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs1554852789	G>A,T	Likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1554854758	T>C	Pathogenic	Missense variant, coding sequence variant
rs1564676479	G>A	Likely-pathogenic	Splice donor variant
rs1564698683	G>A	Pathogenic	Stop gained, coding sequence variant
rs1564698850	->TGTGT	Pathogenic	Frameshift variant, coding sequence variant
rs1590061914	->AG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1590062006	G>A,C	Likely-pathogenic	Splice donor variant
rs1590062899	CAGGGCATCCTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1590063305	A>G	Likely-pathogenic	Splice acceptor variant
rs1590065940	G>A	Pathogenic	Coding sequence variant, stop gained
rs1590066162	C>T	Pathogenic	Coding sequence variant, stop gained
rs1590082278	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1590084324	G>A	Pathogenic	Coding sequence variant, stop gained

310

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002084	hsa-miR-378a-5p	Luciferase reporter assayWestern blotqRT-PCR	18077375
MIRT002084	hsa-miR-378a-5p	Luciferase reporter assayWestern blotqRT-PCR	18077375
MIRT000670	hsa-miR-378a-3p	Review	19935707
MIRT000670	hsa-miR-378a-3p	Reporter assay	18077375
MIRT038747	hsa-miR-93-3p	CLASH	23622248
MIRT733733	hsa-miR-20b-3p	ImmunofluorescenceLuciferase reporter assayWestern blotting	33884032
MIRT733733	hsa-miR-20b-3p	ImmunofluorescenceLuciferase reporter assayWestern blotting	33884032
MIRT733944	hsa-miR-324-5p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blotting	33017570
MIRT734464	hsa-miR-150-5p	Luciferase reporter assayqRT-PCRWestern blotting	33848981
MIRT000670	hsa-miR-378a-3p	Western blottingqRT-PCR	33759282
MIRT002084	hsa-miR-378a-5p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)RNA-seqqRT-PCRFlow cytometry	31692053
MIRT1402433	hsa-miR-1224-3p	CLIP-seq
MIRT1402434	hsa-miR-1260	CLIP-seq
MIRT1402435	hsa-miR-1260b	CLIP-seq
MIRT1402436	hsa-miR-1280	CLIP-seq
MIRT1402437	hsa-miR-1285	CLIP-seq
MIRT1402438	hsa-miR-1321	CLIP-seq
MIRT1402439	hsa-miR-188-3p	CLIP-seq
MIRT1402440	hsa-miR-3156-3p	CLIP-seq
MIRT1402441	hsa-miR-3184	CLIP-seq
MIRT1402442	hsa-miR-3187-5p	CLIP-seq
MIRT1402443	hsa-miR-3689d	CLIP-seq
MIRT1402444	hsa-miR-423-5p	CLIP-seq
MIRT1402445	hsa-miR-4270	CLIP-seq
MIRT1402446	hsa-miR-4292	CLIP-seq
MIRT1402447	hsa-miR-4308	CLIP-seq
MIRT1402448	hsa-miR-4441	CLIP-seq
MIRT1402449	hsa-miR-4739	CLIP-seq
MIRT1402450	hsa-miR-4755-3p	CLIP-seq
MIRT1402451	hsa-miR-4756-5p	CLIP-seq
MIRT1402452	hsa-miR-612	CLIP-seq
MIRT1402453	hsa-miR-670	CLIP-seq
MIRT1402454	hsa-miR-671-3p	CLIP-seq
MIRT1402455	hsa-miR-720	CLIP-seq
MIRT1402456	hsa-miR-1205	CLIP-seq
MIRT1402457	hsa-miR-1207-3p	CLIP-seq
MIRT1402458	hsa-miR-125a-5p	CLIP-seq
MIRT1402459	hsa-miR-125b	CLIP-seq
MIRT1402460	hsa-miR-1273f	CLIP-seq
MIRT1402461	hsa-miR-1286	CLIP-seq
MIRT1402462	hsa-miR-129-3p	CLIP-seq
MIRT1402463	hsa-miR-1294	CLIP-seq
MIRT1402464	hsa-miR-143	CLIP-seq
MIRT1402465	hsa-miR-1908	CLIP-seq
MIRT1402466	hsa-miR-194	CLIP-seq
MIRT1402467	hsa-miR-224	CLIP-seq
MIRT1402468	hsa-miR-3134	CLIP-seq
MIRT1402469	hsa-miR-3135b	CLIP-seq
MIRT1402470	hsa-miR-3150a-3p	CLIP-seq
MIRT1402471	hsa-miR-3160-3p	CLIP-seq
MIRT1402472	hsa-miR-3175	CLIP-seq
MIRT1402473	hsa-miR-342-5p	CLIP-seq
MIRT1402474	hsa-miR-3651	CLIP-seq
MIRT1402475	hsa-miR-3653	CLIP-seq
MIRT1402443	hsa-miR-3689d	CLIP-seq
MIRT1402476	hsa-miR-370	CLIP-seq
MIRT1402477	hsa-miR-3714	CLIP-seq
MIRT1402478	hsa-miR-371-5p	CLIP-seq
MIRT1402479	hsa-miR-378g	CLIP-seq
MIRT1402480	hsa-miR-3960	CLIP-seq
MIRT1402481	hsa-miR-4269	CLIP-seq
MIRT1402482	hsa-miR-4319	CLIP-seq
MIRT1402483	hsa-miR-4437	CLIP-seq
MIRT1402484	hsa-miR-4457	CLIP-seq
MIRT1402485	hsa-miR-4466	CLIP-seq
MIRT1402486	hsa-miR-4487	CLIP-seq
MIRT1402487	hsa-miR-4534	CLIP-seq
MIRT1402488	hsa-miR-4645-5p	CLIP-seq
MIRT1402489	hsa-miR-4662a-5p	CLIP-seq
MIRT1402490	hsa-miR-4664-5p	CLIP-seq
MIRT1402491	hsa-miR-4667-5p	CLIP-seq
MIRT1402492	hsa-miR-4673	CLIP-seq
MIRT1402493	hsa-miR-4674	CLIP-seq
MIRT1402494	hsa-miR-4676-5p	CLIP-seq
MIRT1402495	hsa-miR-4687-5p	CLIP-seq
MIRT1402496	hsa-miR-4700-5p	CLIP-seq
MIRT1402497	hsa-miR-4708-5p	CLIP-seq
MIRT1402498	hsa-miR-4709-3p	CLIP-seq
MIRT1402499	hsa-miR-4710	CLIP-seq
MIRT1402500	hsa-miR-4722-5p	CLIP-seq
MIRT1402501	hsa-miR-4770	CLIP-seq
MIRT1402502	hsa-miR-513b	CLIP-seq
MIRT1402503	hsa-miR-555	CLIP-seq
MIRT1402504	hsa-miR-558	CLIP-seq
MIRT1402505	hsa-miR-575	CLIP-seq
MIRT1402506	hsa-miR-646	CLIP-seq
MIRT1402507	hsa-miR-663	CLIP-seq
MIRT1402508	hsa-miR-675	CLIP-seq
MIRT1402509	hsa-miR-711	CLIP-seq
MIRT1402510	hsa-miR-939	CLIP-seq
MIRT1402511	hsa-miR-940	CLIP-seq
MIRT1402462	hsa-miR-129-3p	CLIP-seq
MIRT1402468	hsa-miR-3134	CLIP-seq
MIRT1402474	hsa-miR-3651	CLIP-seq
MIRT1402487	hsa-miR-4534	CLIP-seq
MIRT1402495	hsa-miR-4687-5p	CLIP-seq
MIRT1402467	hsa-miR-224	CLIP-seq
MIRT1402470	hsa-miR-3150a-3p	CLIP-seq
MIRT1402472	hsa-miR-3175	CLIP-seq
MIRT1402491	hsa-miR-4667-5p	CLIP-seq
MIRT1402496	hsa-miR-4700-5p	CLIP-seq
MIRT1402510	hsa-miR-939	CLIP-seq
MIRT2120708	hsa-miR-103a	CLIP-seq
MIRT2120709	hsa-miR-107	CLIP-seq
MIRT2120710	hsa-miR-1184	CLIP-seq
MIRT1402456	hsa-miR-1205	CLIP-seq
MIRT2120711	hsa-miR-1207-5p	CLIP-seq
MIRT2120712	hsa-miR-1245b-5p	CLIP-seq
MIRT2120713	hsa-miR-1266	CLIP-seq
MIRT2120714	hsa-miR-1299	CLIP-seq
MIRT1402438	hsa-miR-1321	CLIP-seq
MIRT2120715	hsa-miR-1914	CLIP-seq
MIRT1402466	hsa-miR-194	CLIP-seq
MIRT2120716	hsa-miR-2467-3p	CLIP-seq
MIRT2120717	hsa-miR-3123	CLIP-seq
MIRT2120718	hsa-miR-3127-5p	CLIP-seq
MIRT1402469	hsa-miR-3135b	CLIP-seq
MIRT2120719	hsa-miR-3142	CLIP-seq
MIRT2120720	hsa-miR-3158-5p	CLIP-seq
MIRT2120721	hsa-miR-3202	CLIP-seq
MIRT2120722	hsa-miR-3678-3p	CLIP-seq
MIRT1402479	hsa-miR-378g	CLIP-seq
MIRT2120723	hsa-miR-3918	CLIP-seq
MIRT2120724	hsa-miR-3919	CLIP-seq
MIRT2120725	hsa-miR-3929	CLIP-seq
MIRT1402481	hsa-miR-4269	CLIP-seq
MIRT1402445	hsa-miR-4270	CLIP-seq
MIRT2120726	hsa-miR-4327	CLIP-seq
MIRT2120727	hsa-miR-4418	CLIP-seq
MIRT2120728	hsa-miR-4419b	CLIP-seq
MIRT2120729	hsa-miR-4436b-3p	CLIP-seq
MIRT1402448	hsa-miR-4441	CLIP-seq
MIRT2120730	hsa-miR-4470	CLIP-seq
MIRT2120731	hsa-miR-4478	CLIP-seq
MIRT2120732	hsa-miR-4492	CLIP-seq
MIRT2120733	hsa-miR-4498	CLIP-seq
MIRT2120734	hsa-miR-4505	CLIP-seq
MIRT2120735	hsa-miR-4514	CLIP-seq
MIRT2120736	hsa-miR-4518	CLIP-seq
MIRT2120737	hsa-miR-4533	CLIP-seq
MIRT2120738	hsa-miR-4660	CLIP-seq
MIRT1402495	hsa-miR-4687-5p	CLIP-seq
MIRT2120739	hsa-miR-4690-3p	CLIP-seq
MIRT2120740	hsa-miR-4692	CLIP-seq
MIRT2120741	hsa-miR-4728-5p	CLIP-seq
MIRT1402449	hsa-miR-4739	CLIP-seq
MIRT2120742	hsa-miR-4740-3p	CLIP-seq
MIRT2120743	hsa-miR-4756-3p	CLIP-seq
MIRT1402451	hsa-miR-4756-5p	CLIP-seq
MIRT2120744	hsa-miR-4757-5p	CLIP-seq
MIRT2120745	hsa-miR-4763-3p	CLIP-seq
MIRT2120746	hsa-miR-4782-5p	CLIP-seq
MIRT2120747	hsa-miR-509-3-5p	CLIP-seq
MIRT2120748	hsa-miR-509-5p	CLIP-seq
MIRT2120749	hsa-miR-516b	CLIP-seq
MIRT2120750	hsa-miR-520a-5p	CLIP-seq
MIRT2120751	hsa-miR-525-5p	CLIP-seq
MIRT2120752	hsa-miR-637	CLIP-seq
MIRT2120753	hsa-miR-647	CLIP-seq
MIRT2120754	hsa-miR-762	CLIP-seq
MIRT2120755	hsa-miR-875-3p	CLIP-seq
MIRT1402511	hsa-miR-940	CLIP-seq
MIRT2120708	hsa-miR-103a	CLIP-seq
MIRT2120709	hsa-miR-107	CLIP-seq
MIRT2342707	hsa-miR-10a	CLIP-seq
MIRT2342708	hsa-miR-10b	CLIP-seq
MIRT2120710	hsa-miR-1184	CLIP-seq
MIRT1402456	hsa-miR-1205	CLIP-seq
MIRT2342709	hsa-miR-1225-5p	CLIP-seq
MIRT2342710	hsa-miR-1226	CLIP-seq
MIRT2342711	hsa-miR-1227	CLIP-seq
MIRT2342712	hsa-miR-1229	CLIP-seq
MIRT2342713	hsa-miR-1279	CLIP-seq
MIRT2342714	hsa-miR-150	CLIP-seq
MIRT2342715	hsa-miR-1827	CLIP-seq
MIRT2342716	hsa-miR-1910	CLIP-seq
MIRT2120715	hsa-miR-1914	CLIP-seq
MIRT2342717	hsa-miR-1976	CLIP-seq
MIRT2120716	hsa-miR-2467-3p	CLIP-seq
MIRT2342718	hsa-miR-2467-5p	CLIP-seq
MIRT2342719	hsa-miR-29a	CLIP-seq
MIRT2342720	hsa-miR-29b	CLIP-seq
MIRT2342721	hsa-miR-29c	CLIP-seq
MIRT2342722	hsa-miR-3125	CLIP-seq
MIRT2120720	hsa-miR-3158-5p	CLIP-seq
MIRT2342723	hsa-miR-3183	CLIP-seq
MIRT2342724	hsa-miR-3188	CLIP-seq
MIRT2342725	hsa-miR-320a	CLIP-seq
MIRT2342726	hsa-miR-320b	CLIP-seq
MIRT2342727	hsa-miR-320c	CLIP-seq
MIRT2342728	hsa-miR-320d	CLIP-seq
MIRT2342729	hsa-miR-330-3p	CLIP-seq
MIRT2342730	hsa-miR-3609	CLIP-seq
MIRT2342731	hsa-miR-3916	CLIP-seq
MIRT2120725	hsa-miR-3929	CLIP-seq
MIRT2342732	hsa-miR-3944-5p	CLIP-seq
MIRT2342733	hsa-miR-3974	CLIP-seq
MIRT2342734	hsa-miR-3975	CLIP-seq
MIRT1402445	hsa-miR-4270	CLIP-seq
MIRT2342735	hsa-miR-4283	CLIP-seq
MIRT2342736	hsa-miR-4300	CLIP-seq
MIRT2342737	hsa-miR-4311	CLIP-seq
MIRT2342738	hsa-miR-4316	CLIP-seq
MIRT2120728	hsa-miR-4419b	CLIP-seq
MIRT2342739	hsa-miR-4429	CLIP-seq
MIRT1402448	hsa-miR-4441	CLIP-seq
MIRT1402484	hsa-miR-4457	CLIP-seq
MIRT2342740	hsa-miR-4469	CLIP-seq
MIRT2120731	hsa-miR-4478	CLIP-seq
MIRT2342741	hsa-miR-4530	CLIP-seq
MIRT2120739	hsa-miR-4690-3p	CLIP-seq
MIRT2342742	hsa-miR-4723-3p	CLIP-seq
MIRT2342743	hsa-miR-4733-3p	CLIP-seq
MIRT2342744	hsa-miR-4793-5p	CLIP-seq
MIRT2342745	hsa-miR-485-5p	CLIP-seq
MIRT2120750	hsa-miR-520a-5p	CLIP-seq
MIRT2342746	hsa-miR-520g	CLIP-seq
MIRT2342747	hsa-miR-520h	CLIP-seq
MIRT2120751	hsa-miR-525-5p	CLIP-seq
MIRT2342748	hsa-miR-548ah	CLIP-seq
MIRT2342749	hsa-miR-548p	CLIP-seq
MIRT1402504	hsa-miR-558	CLIP-seq
MIRT2342750	hsa-miR-624	CLIP-seq
MIRT2342751	hsa-miR-645	CLIP-seq
MIRT2120753	hsa-miR-647	CLIP-seq
MIRT2342752	hsa-miR-920	CLIP-seq
MIRT2342753	hsa-miR-922	CLIP-seq
MIRT1402510	hsa-miR-939	CLIP-seq
MIRT1402462	hsa-miR-129-3p	CLIP-seq
MIRT2395408	hsa-miR-219-2-3p	CLIP-seq
MIRT2342722	hsa-miR-3125	CLIP-seq
MIRT1402474	hsa-miR-3651	CLIP-seq
MIRT2342731	hsa-miR-3916	CLIP-seq
MIRT1402446	hsa-miR-4292	CLIP-seq
MIRT2395409	hsa-miR-4450	CLIP-seq
MIRT1402491	hsa-miR-4667-5p	CLIP-seq
MIRT1402495	hsa-miR-4687-5p	CLIP-seq
MIRT2395410	hsa-miR-4695-5p	CLIP-seq
MIRT1402496	hsa-miR-4700-5p	CLIP-seq
MIRT2395411	hsa-miR-4732-5p	CLIP-seq
MIRT2395412	hsa-miR-4764-5p	CLIP-seq
MIRT2460779	hsa-miR-3655	CLIP-seq
MIRT2460780	hsa-miR-4282	CLIP-seq
MIRT2460781	hsa-miR-4686	CLIP-seq
MIRT2460782	hsa-miR-520d-5p	CLIP-seq
MIRT2460783	hsa-miR-524-5p	CLIP-seq
MIRT2460784	hsa-miR-548c-3p	CLIP-seq
MIRT2460785	hsa-miR-590-3p	CLIP-seq
MIRT2120710	hsa-miR-1184	CLIP-seq
MIRT2636489	hsa-miR-1193	CLIP-seq
MIRT2342710	hsa-miR-1226	CLIP-seq
MIRT2342714	hsa-miR-150	CLIP-seq
MIRT2636490	hsa-miR-1915	CLIP-seq
MIRT2636491	hsa-miR-3064-5p	CLIP-seq
MIRT2636492	hsa-miR-3129-3p	CLIP-seq
MIRT2636493	hsa-miR-3163	CLIP-seq
MIRT2636494	hsa-miR-3650	CLIP-seq
MIRT2636495	hsa-miR-4267	CLIP-seq
MIRT2460780	hsa-miR-4282	CLIP-seq
MIRT2636496	hsa-miR-4286	CLIP-seq
MIRT2636497	hsa-miR-4323	CLIP-seq
MIRT2636498	hsa-miR-4324	CLIP-seq
MIRT2636499	hsa-miR-4329	CLIP-seq
MIRT2395409	hsa-miR-4450	CLIP-seq
MIRT2636500	hsa-miR-4645-3p	CLIP-seq
MIRT2636501	hsa-miR-4650-5p	CLIP-seq
MIRT2636502	hsa-miR-4726-3p	CLIP-seq
MIRT2636503	hsa-miR-4786-5p	CLIP-seq
MIRT2636504	hsa-miR-491-5p	CLIP-seq
MIRT2460782	hsa-miR-520d-5p	CLIP-seq
MIRT2460783	hsa-miR-524-5p	CLIP-seq
MIRT2636505	hsa-miR-548ac	CLIP-seq
MIRT2636506	hsa-miR-548ae	CLIP-seq
MIRT2636507	hsa-miR-548aj	CLIP-seq
MIRT2636508	hsa-miR-548am	CLIP-seq
MIRT2636509	hsa-miR-548d-3p	CLIP-seq
MIRT2636510	hsa-miR-548x	CLIP-seq
MIRT2636511	hsa-miR-548z	CLIP-seq
MIRT2460785	hsa-miR-590-3p	CLIP-seq
MIRT2636512	hsa-miR-604	CLIP-seq
MIRT2120753	hsa-miR-647	CLIP-seq
MIRT2636513	hsa-miR-769-5p	CLIP-seq
MIRT2120710	hsa-miR-1184	CLIP-seq
MIRT2342710	hsa-miR-1226	CLIP-seq
MIRT2342714	hsa-miR-150	CLIP-seq
MIRT2636490	hsa-miR-1915	CLIP-seq
MIRT2636491	hsa-miR-3064-5p	CLIP-seq
MIRT2342722	hsa-miR-3125	CLIP-seq
MIRT2342731	hsa-miR-3916	CLIP-seq
MIRT2636495	hsa-miR-4267	CLIP-seq
MIRT2636496	hsa-miR-4286	CLIP-seq
MIRT2636497	hsa-miR-4323	CLIP-seq
MIRT2636498	hsa-miR-4324	CLIP-seq
MIRT2636499	hsa-miR-4329	CLIP-seq
MIRT2342741	hsa-miR-4530	CLIP-seq
MIRT2636501	hsa-miR-4650-5p	CLIP-seq
MIRT2692413	hsa-miR-4690-5p	CLIP-seq
MIRT2636502	hsa-miR-4726-3p	CLIP-seq
MIRT2692414	hsa-miR-4742-5p	CLIP-seq
MIRT2692415	hsa-miR-4763-5p	CLIP-seq
MIRT2636503	hsa-miR-4786-5p	CLIP-seq
MIRT2460782	hsa-miR-520d-5p	CLIP-seq
MIRT2460783	hsa-miR-524-5p	CLIP-seq
MIRT2692416	hsa-miR-583	CLIP-seq
MIRT2692417	hsa-miR-596	CLIP-seq
MIRT2692418	hsa-miR-600	CLIP-seq
MIRT2636512	hsa-miR-604	CLIP-seq
MIRT2120753	hsa-miR-647	CLIP-seq
MIRT2636513	hsa-miR-769-5p	CLIP-seq
MIRT2342753	hsa-miR-922	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10564661
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	11001584
GO:0001843	Process	Neural tube closure	IEA
GO:0001947	Process	Heart looping	IEA
GO:0003281	Process	Ventricular septum development	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	10559945, 10564661
GO:0005515	Function	Protein binding	IPI	10564661, 10806483, 16189514, 20211142, 22439934, 24035498, 24217340, 24311597, 25241761, 25416956, 25609649, 27234298, 28514442, 28965847, 31403225, 31515488, 32296183, 32814053, 33961781, 35140242, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10806483
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	28965847
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10564661, 10806483
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	28965847
GO:0005737	Component	Cytoplasm	NAS	10564661
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	24311597
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	10564661
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	10559945
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0008013	Function	Beta-catenin binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	20643644
GO:0021513	Process	Spinal cord dorsal/ventral patterning	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:0035904	Process	Aorta development	IEA
GO:0042308	Process	Negative regulation of protein import into nucleus	TAS	11001584
GO:0043588	Process	Skin development	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	TAS	11001584
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IBA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IMP	27234298, 28965847
GO:0045879	Process	Negative regulation of smoothened signaling pathway	TAS	11001584
GO:0060976	Process	Coronary vasculature development	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097546	Component	Ciliary base	TAS
GO:1990788	Component	GLI-SUFU complex	IPI	24311597
GO:1990788	Component	GLI-SUFU complex	ISS
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IEA
GO:2001040	Process	Positive regulation of cellular response to drug	IEA

MIM	HGNC	e!Ensembl
607035	16466	ENSG00000107882

Q9UMX1

Protein name

Suppressor of fused homolog (SUFUH)

Protein function

Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:27234298, PubMed:289

PDB

1M1L , 4BL8 , 4BL9 , 4BLA , 4BLB , 4BLD , 4KM8 , 4KM9 , 4KMD , 4KMH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05076	SUFU	64 → 241	Suppressor of fused protein (SUFU)	Family
PF12470	SUFU_C	253 → 473	Suppressor of Fused Gli/Ci N terminal binding domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous in adult tissues. Detected in osteoblasts of the perichondrium in the developing limb of 12-week old embryos. Isoform 1 is detected in fetal brain, lung, kidney and testis. Isoform 2 is detected in fetal testis, and at much

Sequence

MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKY
WLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFEL
TFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLT
EDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRL
SGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHEL
IRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATE
EHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFD
SPLH

Sequence length

484

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway Pathways in cancer Basal cell carcinoma		Degradation of GLI1 by the proteasome GLI3 is processed to GLI3R by the proteasome Hedgehog 'off' state Hedgehog 'on' state

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)

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Basal cell nevus syndrome 2	Pathogenic; Likely pathogenic	rs587776578, rs587776579, rs2545100510, rs1060501105	RCV003223388 RCV003227597 RCV003226893 RCV003448312	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital fibrosarcoma	Pathogenic	rs1477199832	RCV003110131	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial meningioma	Likely pathogenic	rs2135959437, rs2492780262	RCV001542763 RCV004573687	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gorlin syndrome	Likely pathogenic; Pathogenic	rs2063794106, rs2135870923, rs2135597189, rs2135743382, rs907135467, rs2135882232, rs2135888594, rs2135889203, rs2135954200, rs2135621012, rs2135742927, rs2135598685, rs2135597925, rs2135930329, rs2135597558 View all (52 more)	RCV001346789 RCV001377148 RCV001385355 RCV001384999 RCV001380113 View all (66 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2135889203, rs2135954200, rs2135930329, rs2135597189, rs2545095292, rs2135870931, rs771361493, rs587776578, rs587776579, rs2545087054, rs2545095273, rs2135889249, rs2544829669, rs2492790396, rs771084342 View all (9 more)	RCV003169944 RCV005742257 RCV002440974 RCV004681358 RCV004948673 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 32	Likely pathogenic; Pathogenic	rs1060501105, rs1554852272	RCV003448312 RCV000515250	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Likely pathogenic; Pathogenic	rs2063794106, rs2135870923, rs2135597189, rs2135743382, rs907135467, rs2135882232, rs2135888594, rs2135889203, rs2135954200, rs2135621012, rs2135742927, rs2135598685, rs2135597925, rs2135930329, rs2135597558 View all (51 more)	RCV001346789 RCV001377148 RCV001385355 RCV001384999 RCV001380113 View all (64 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2135867122	RCV002277674	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculomotor apraxia	Pathogenic	rs2135866639	RCV001785236	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SUFU-related disorder	Pathogenic; Likely pathogenic	rs587776578, rs2545101102, rs1564698850	RCV001270787 RCV004552568 RCV004737958	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (35)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
APRAXIA	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APRAXIA, OCULOMOTOR, COGAN TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APRAXIAS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal cell nevus syndrome 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESMOPLASTIC/NODULAR MEDULLOBLASTOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL MULTIPLE MENINGIOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Conflicting classifications of pathogenicity	ClinVar Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MENINGIOMA, FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microform holoprosencephaly	Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (203)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Accessory rib	Accessory Rib	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocallosal Syndrome	Acrocallosal Syndrome	ORPHANET_DG	28965847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocallosal syndrome	Acrocallosal Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocallosal syndrome, Schinzel type	Acrocallosal Syndrome	ORPHANET_DG	28965847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	15077159, 19533801, 19833601, 21188540, 22508808, 22829011, 25287320, 25403219, 28620006, 29186568, 30554998, 30695694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	24930892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amnesia, Transient Global	Amnesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27840902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	33024317, 34675124, 39181021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	19533801, 22508808, 22829011, 23951062, 25403219, 28525403, 28620006, 28915250, 29081410, 29186568, 29356994, 29603722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	GENOMICS_ENGLAND_DG	19533801, 25403219, 28965847, 29771000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	ORPHANET_DG	19533801, 22829011, 25403219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	CLINVAR_DG	21188540, 22508808, 25403219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	23951062, 28915250, 29186568, 33441926, 33860896, 33893086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31639285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12150819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	12150819, 35017538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcification of falx cerebri	Calcification of falx cerebri	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30695694	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29039491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	29186568, 33441926, 33860896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	26790448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37477952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	15656799, 26950094, 29186568, 29356994		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	26950094		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac fibroma	Cardiac fibroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac rhabdomyoma	Cardiac rhabdomyoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	34675124, 39181021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	15077159, 19533801, 19833601, 21188540, 22508808, 22829011, 22958902, 25287320, 25403219, 28620006, 29186568, 29356994, 30554998, 30695694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	28965847		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	28965847	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23551431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	24070372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	ORPHANET_DG	12068298, 19833601, 21188540, 22508808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	BEFREE	12150819, 16400626, 21188540, 22508808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	GENOMICS_ENGLAND_DG	25403219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Desmoplastic/nodular medulloblastoma	Desmoplastic/Nodular Medulloblastoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	34675124, 39181021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	34589056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	16294371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	24070372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28640224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21210262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	28965847		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial meningioma	Meningioma	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial multiple meningioma	Multiple Meningioma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
fibroma	Fibroma	BEFREE	29356994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29915227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ 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	CTD_human_DG	27793025		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27974047	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gorlin syndrome	Gorlin Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Graft vs Host Disease	Graft-versus-host disease	Pubtator	26067905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	26067905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	25287320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	22958902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	26261006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	27363716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothalamic hypothyroidism	Hypothalamic hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34675124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 32	Joubert syndrome	UNIPROT_DG	28965847		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JOUBERT SYNDROME 32	Joubert syndrome	GENOMICS_ENGLAND_DG	28965847, 30914295		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JOUBERT SYNDROME 32	Joubert syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	23951062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Localized Primitive Neuroectodermal Tumor	Primitive Neuroectodermal Tumor	CLINGEN_DG	12068298, 16459298, 17452975, 18285427, 19533801, 19833601, 21882258, 22958902, 25403219, 8681379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29335598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	23826113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28640224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27810403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29186568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23551431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	12068298, 15077159		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma	Medulloblastoma	CLINGEN_DG	12068298, 16459298, 17452975, 18285427, 19533801, 19833601, 21882258, 22958902, 25403219, 8681379		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma	Medulloblastoma	Pubtator	12150819, 26857864, 29186568, 30695694, 32056145, 33860896, 33893086, 33978203	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma	Medulloblastoma	BEFREE	15077159, 15488029, 19533801, 19833601, 21188540, 22508808, 22829011, 25287320, 25403219, 28620006, 29186568, 30554998, 30695694		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma	Medulloblastoma	GENOMICS_ENGLAND_DG	19533801, 25403219		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma	Medulloblastoma	CLINVAR_DG	21188540, 22508808, 25403219		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma	Medulloblastoma	CGI_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma	Medulloblastoma	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma	Medulloblastoma	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma with extensive nodularity	Medulloblastoma With Extensive Nodularity	ORPHANET_DG	12068298, 19833601, 21188540, 22508808		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma with extensive nodularity	Medulloblastoma With Extensive Nodularity	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma with extensive nodularity	Medulloblastoma With Extensive Nodularity	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30672666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	22829011, 22958902, 27548314, 29186568		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	ORPHANET_DG	22958902		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	Pubtator	22958902, 27548314, 28759666, 29186568	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma familial	Meningioma	Pubtator	22958902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningiomas, Multiple	Meningioma	BEFREE	22958902, 25857641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm of the anterior pituitary	Brain Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm of the posterior pituitary	Brain Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15656799, 16294371, 19022373, 19833601, 22958902, 23551431, 25287320, 25759019, 26677003, 27810403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	24070372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23900341	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	ORPHANET_DG	19533801, 22829011, 25403219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orbital cyst	Orbital cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30342851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	33860896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Fibromata	Ovarian fibromata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30716324, 37477952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	29249966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	33759282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	39181021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	28965847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior fossa compression syndrome	Brain stem compression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15482598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	16294371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	16294371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	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
Sepsis	Sepsis	Pubtator	23538333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	23538333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	25287320		★★★★★ ★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Meningioma	Spinal Meningioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 3	Split-Hand-Foot Malformation	BEFREE	16691619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27810403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30542715	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SUFU (SUFU negative regulator of hedgehog signaling)