HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1)

Gene

• Entrez ID: 10075
• Gene name: HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
• Gene symbol: HUWE1
• Synonyms (NCBI Gene): ARF-BP1, HECTH9, HSPC272, Ib772, LASU1, MRXST, MULE, URE-B1, UREB1
• Chromosome: X
• Chromosome location: Xp11.22
• Summary: This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic prote

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918525	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121918526	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121918527	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs140734968	G>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs142126065	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs144449744	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs782393002	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs863224879	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs886041876	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057517893	A>G	Pathogenic	Missense variant, coding sequence variant
rs1057518704	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520538	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1057521722	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521730	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521791	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521796	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524560	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793631	A>G	Pathogenic	Missense variant, coding sequence variant
rs1325394060	C>G,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1556909287	C>G	Pathogenic	Missense variant, coding sequence variant
rs1556909335	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556910184	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1556910261	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1556911750	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556912828	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556913180	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556913258	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556913268	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556914274	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1556927963	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556928966	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556955128	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556978515	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1557006873	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1557006903	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1557024919	C>G	Pathogenic	Splice donor variant
rs1557036757	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557036768	C>T	Pathogenic	Missense variant, coding sequence variant
rs1569398624	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569399945	C>T	Pathogenic	Coding sequence variant, missense variant
rs1569509136	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1602738933	AGTTGAAGCTGTTGAGAAAAGTCAAACACTGG>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025352	hsa-miR-34a-5p	Proteomics	21566225
MIRT025352	hsa-miR-34a-5p	Proteomics	21566225
MIRT025352	hsa-miR-34a-5p	Proteomics	21566225
MIRT052488	hsa-let-7a-5p	CLASH	23622248
MIRT051966	hsa-let-7b-5p	CLASH	23622248
MIRT051966	hsa-let-7b-5p	CLASH	23622248
MIRT051832	hsa-let-7c-5p	CLASH	23622248
MIRT051832	hsa-let-7c-5p	CLASH	23622248
MIRT050828	hsa-miR-17-5p	CLASH	23622248
MIRT049984	hsa-miR-29a-3p	CLASH	23622248
MIRT048861	hsa-miR-93-5p	CLASH	23622248
MIRT048861	hsa-miR-93-5p	CLASH	23622248
MIRT048243	hsa-miR-196a-5p	CLASH	23622248
MIRT048243	hsa-miR-196a-5p	CLASH	23622248
MIRT047319	hsa-miR-181a-5p	CLASH	23622248
MIRT047250	hsa-miR-181b-5p	CLASH	23622248
MIRT045992	hsa-miR-125b-5p	CLASH	23622248
MIRT045495	hsa-miR-149-5p	CLASH	23622248
MIRT045042	hsa-miR-186-5p	CLASH	23622248
MIRT044520	hsa-miR-320a	CLASH	23622248
MIRT044343	hsa-miR-106b-5p	CLASH	23622248
MIRT044240	hsa-miR-29c-3p	CLASH	23622248
MIRT044071	hsa-miR-361-5p	CLASH	23622248
MIRT042879	hsa-miR-324-3p	CLASH	23622248
MIRT042879	hsa-miR-324-3p	CLASH	23622248
MIRT042879	hsa-miR-324-3p	CLASH	23622248
MIRT042210	hsa-miR-484	CLASH	23622248
MIRT041449	hsa-miR-193b-3p	CLASH	23622248
MIRT039457	hsa-miR-660-5p	CLASH	23622248
MIRT038776	hsa-miR-93-3p	CLASH	23622248
MIRT038686	hsa-miR-30c-2-3p	CLASH	23622248
MIRT038682	hsa-miR-7-1-3p	CLASH	23622248
MIRT038010	hsa-miR-424-3p	CLASH	23622248
MIRT037319	hsa-miR-877-5p	CLASH	23622248
MIRT036979	hsa-miR-877-3p	CLASH	23622248
MIRT036979	hsa-miR-877-3p	CLASH	23622248
MIRT035882	hsa-miR-1303	CLASH	23622248
MIRT563786	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT563785	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT563784	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT563783	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT563782	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT563781	hsa-miR-4775	PAR-CLIP	20371350
MIRT563780	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT563779	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT563778	hsa-miR-3679-3p	PAR-CLIP	20371350
MIRT563777	hsa-miR-4446-5p	PAR-CLIP	20371350
MIRT735639	hsa-miR-29b-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32045877
MIRT563786	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT563785	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT563784	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT563783	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT563782	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT563781	hsa-miR-4775	PAR-CLIP	20371350
MIRT563780	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT563779	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT563778	hsa-miR-3679-3p	PAR-CLIP	20371350
MIRT563777	hsa-miR-4446-5p	PAR-CLIP	20371350
MIRT1057662	hsa-miR-103a	CLIP-seq
MIRT1057663	hsa-miR-107	CLIP-seq
MIRT1057664	hsa-miR-1207-5p	CLIP-seq
MIRT1057665	hsa-miR-1208	CLIP-seq
MIRT1057666	hsa-miR-1237	CLIP-seq
MIRT1057667	hsa-miR-1248	CLIP-seq
MIRT1057668	hsa-miR-1297	CLIP-seq
MIRT1057669	hsa-miR-185	CLIP-seq
MIRT1057670	hsa-miR-1908	CLIP-seq
MIRT1057671	hsa-miR-2355-5p	CLIP-seq
MIRT1057672	hsa-miR-26a	CLIP-seq
MIRT1057673	hsa-miR-26b	CLIP-seq
MIRT1057674	hsa-miR-3123	CLIP-seq
MIRT1057675	hsa-miR-3147	CLIP-seq
MIRT1057676	hsa-miR-3150b-3p	CLIP-seq
MIRT1057677	hsa-miR-3175	CLIP-seq
MIRT1057678	hsa-miR-3200-5p	CLIP-seq
MIRT1057679	hsa-miR-3653	CLIP-seq
MIRT1057680	hsa-miR-3655	CLIP-seq
MIRT1057681	hsa-miR-3658	CLIP-seq
MIRT1057682	hsa-miR-3918	CLIP-seq
MIRT1057683	hsa-miR-3937	CLIP-seq
MIRT1057684	hsa-miR-3960	CLIP-seq
MIRT1057685	hsa-miR-4259	CLIP-seq
MIRT1057686	hsa-miR-4306	CLIP-seq
MIRT1057687	hsa-miR-4465	CLIP-seq
MIRT1057688	hsa-miR-4467	CLIP-seq
MIRT1057689	hsa-miR-4512	CLIP-seq
MIRT1057690	hsa-miR-4539	CLIP-seq
MIRT1057691	hsa-miR-4644	CLIP-seq
MIRT1057692	hsa-miR-4649-3p	CLIP-seq
MIRT1057693	hsa-miR-4689	CLIP-seq
MIRT1057694	hsa-miR-4706	CLIP-seq
MIRT1057695	hsa-miR-4719	CLIP-seq
MIRT1057696	hsa-miR-4726-3p	CLIP-seq
MIRT1057697	hsa-miR-4749-5p	CLIP-seq
MIRT1057698	hsa-miR-4763-3p	CLIP-seq
MIRT1057699	hsa-miR-4764-3p	CLIP-seq
MIRT1057700	hsa-miR-4784	CLIP-seq
MIRT1057701	hsa-miR-495	CLIP-seq
MIRT1057702	hsa-miR-498	CLIP-seq
MIRT1057703	hsa-miR-500a	CLIP-seq
MIRT1057704	hsa-miR-545	CLIP-seq
MIRT1057705	hsa-miR-548ac	CLIP-seq
MIRT1057706	hsa-miR-548d-3p	CLIP-seq
MIRT1057707	hsa-miR-548z	CLIP-seq
MIRT1057708	hsa-miR-571	CLIP-seq
MIRT1057709	hsa-miR-663	CLIP-seq
MIRT1057662	hsa-miR-103a	CLIP-seq
MIRT1057663	hsa-miR-107	CLIP-seq
MIRT2013261	hsa-miR-1207-3p	CLIP-seq
MIRT1057664	hsa-miR-1207-5p	CLIP-seq
MIRT1057665	hsa-miR-1208	CLIP-seq
MIRT1057666	hsa-miR-1237	CLIP-seq
MIRT1057667	hsa-miR-1248	CLIP-seq
MIRT2013262	hsa-miR-1253	CLIP-seq
MIRT2013263	hsa-miR-1290	CLIP-seq
MIRT2013264	hsa-miR-1302	CLIP-seq
MIRT2013265	hsa-miR-1343	CLIP-seq
MIRT1057669	hsa-miR-185	CLIP-seq
MIRT1057670	hsa-miR-1908	CLIP-seq
MIRT2013266	hsa-miR-2110	CLIP-seq
MIRT2013267	hsa-miR-219-1-3p	CLIP-seq
MIRT1057671	hsa-miR-2355-5p	CLIP-seq
MIRT1057674	hsa-miR-3123	CLIP-seq
MIRT2013268	hsa-miR-3125	CLIP-seq
MIRT1057676	hsa-miR-3150b-3p	CLIP-seq
MIRT2013269	hsa-miR-3165	CLIP-seq
MIRT2013270	hsa-miR-3167	CLIP-seq
MIRT1057677	hsa-miR-3175	CLIP-seq
MIRT1057678	hsa-miR-3200-5p	CLIP-seq
MIRT2013271	hsa-miR-3675-5p	CLIP-seq
MIRT2013272	hsa-miR-3916	CLIP-seq
MIRT2013273	hsa-miR-3928	CLIP-seq
MIRT1057684	hsa-miR-3960	CLIP-seq
MIRT1057685	hsa-miR-4259	CLIP-seq
MIRT2013274	hsa-miR-4271	CLIP-seq
MIRT2013275	hsa-miR-4298	CLIP-seq
MIRT1057686	hsa-miR-4306	CLIP-seq
MIRT2013276	hsa-miR-4426	CLIP-seq
MIRT1057690	hsa-miR-4539	CLIP-seq
MIRT2013277	hsa-miR-4643	CLIP-seq
MIRT1057691	hsa-miR-4644	CLIP-seq
MIRT2013278	hsa-miR-4647	CLIP-seq
MIRT1057692	hsa-miR-4649-3p	CLIP-seq
MIRT2013279	hsa-miR-4662b	CLIP-seq
MIRT2013280	hsa-miR-4667-5p	CLIP-seq
MIRT1057693	hsa-miR-4689	CLIP-seq
MIRT2013281	hsa-miR-4700-5p	CLIP-seq
MIRT1057694	hsa-miR-4706	CLIP-seq
MIRT2013282	hsa-miR-4717-3p	CLIP-seq
MIRT2013283	hsa-miR-4725-3p	CLIP-seq
MIRT1057696	hsa-miR-4726-3p	CLIP-seq
MIRT2013284	hsa-miR-4729	CLIP-seq
MIRT2013285	hsa-miR-4731-5p	CLIP-seq
MIRT1057697	hsa-miR-4749-5p	CLIP-seq
MIRT1057698	hsa-miR-4763-3p	CLIP-seq
MIRT1057699	hsa-miR-4764-3p	CLIP-seq
MIRT1057700	hsa-miR-4784	CLIP-seq
MIRT2013286	hsa-miR-4787-3p	CLIP-seq
MIRT2013287	hsa-miR-486-3p	CLIP-seq
MIRT1057703	hsa-miR-500a	CLIP-seq
MIRT1057704	hsa-miR-545	CLIP-seq
MIRT1057708	hsa-miR-571	CLIP-seq
MIRT2013288	hsa-miR-579	CLIP-seq
MIRT1057709	hsa-miR-663	CLIP-seq
MIRT2013289	hsa-miR-876-5p	CLIP-seq
MIRT1057662	hsa-miR-103a	CLIP-seq
MIRT1057663	hsa-miR-107	CLIP-seq
MIRT2013261	hsa-miR-1207-3p	CLIP-seq
MIRT1057665	hsa-miR-1208	CLIP-seq
MIRT1057666	hsa-miR-1237	CLIP-seq
MIRT2245523	hsa-miR-1245b-3p	CLIP-seq
MIRT1057667	hsa-miR-1248	CLIP-seq
MIRT1057668	hsa-miR-1297	CLIP-seq
MIRT2013264	hsa-miR-1302	CLIP-seq
MIRT2245524	hsa-miR-1324	CLIP-seq
MIRT2013266	hsa-miR-2110	CLIP-seq
MIRT2013267	hsa-miR-219-1-3p	CLIP-seq
MIRT1057671	hsa-miR-2355-5p	CLIP-seq
MIRT1057672	hsa-miR-26a	CLIP-seq
MIRT1057673	hsa-miR-26b	CLIP-seq
MIRT2245525	hsa-miR-3122	CLIP-seq
MIRT2013268	hsa-miR-3125	CLIP-seq
MIRT1057676	hsa-miR-3150b-3p	CLIP-seq
MIRT2245526	hsa-miR-3166	CLIP-seq
MIRT1057678	hsa-miR-3200-5p	CLIP-seq
MIRT1057680	hsa-miR-3655	CLIP-seq
MIRT2013271	hsa-miR-3675-5p	CLIP-seq
MIRT2245527	hsa-miR-3913-5p	CLIP-seq
MIRT2245528	hsa-miR-3915	CLIP-seq
MIRT2013272	hsa-miR-3916	CLIP-seq
MIRT2013273	hsa-miR-3928	CLIP-seq
MIRT1057685	hsa-miR-4259	CLIP-seq
MIRT2013274	hsa-miR-4271	CLIP-seq
MIRT2013275	hsa-miR-4298	CLIP-seq
MIRT2245529	hsa-miR-4425	CLIP-seq
MIRT2013276	hsa-miR-4426	CLIP-seq
MIRT2245530	hsa-miR-4463	CLIP-seq
MIRT1057687	hsa-miR-4465	CLIP-seq
MIRT2245531	hsa-miR-4494	CLIP-seq
MIRT2245532	hsa-miR-4496	CLIP-seq
MIRT1057690	hsa-miR-4539	CLIP-seq
MIRT2013278	hsa-miR-4647	CLIP-seq
MIRT1057692	hsa-miR-4649-3p	CLIP-seq
MIRT2013279	hsa-miR-4662b	CLIP-seq
MIRT2013280	hsa-miR-4667-5p	CLIP-seq
MIRT1057693	hsa-miR-4689	CLIP-seq
MIRT2013281	hsa-miR-4700-5p	CLIP-seq
MIRT2245533	hsa-miR-4710	CLIP-seq
MIRT2013283	hsa-miR-4725-3p	CLIP-seq
MIRT1057696	hsa-miR-4726-3p	CLIP-seq
MIRT2013285	hsa-miR-4731-5p	CLIP-seq
MIRT1057699	hsa-miR-4764-3p	CLIP-seq
MIRT1057700	hsa-miR-4784	CLIP-seq
MIRT2013286	hsa-miR-4787-3p	CLIP-seq
MIRT2013287	hsa-miR-486-3p	CLIP-seq
MIRT1057702	hsa-miR-498	CLIP-seq
MIRT1057703	hsa-miR-500a	CLIP-seq
MIRT1057704	hsa-miR-545	CLIP-seq
MIRT1057708	hsa-miR-571	CLIP-seq
MIRT2548748	hsa-miR-184	CLIP-seq
MIRT1057669	hsa-miR-185	CLIP-seq
MIRT2548749	hsa-miR-2681	CLIP-seq
MIRT1057677	hsa-miR-3175	CLIP-seq
MIRT2548750	hsa-miR-342-5p	CLIP-seq
MIRT2548751	hsa-miR-3622b-5p	CLIP-seq
MIRT2548752	hsa-miR-3688-3p	CLIP-seq
MIRT2245528	hsa-miR-3915	CLIP-seq
MIRT2013273	hsa-miR-3928	CLIP-seq
MIRT1057683	hsa-miR-3937	CLIP-seq
MIRT2548753	hsa-miR-3978	CLIP-seq
MIRT2548754	hsa-miR-4261	CLIP-seq
MIRT2548755	hsa-miR-4304	CLIP-seq
MIRT1057686	hsa-miR-4306	CLIP-seq
MIRT2548756	hsa-miR-4450	CLIP-seq
MIRT2245532	hsa-miR-4496	CLIP-seq
MIRT2013277	hsa-miR-4643	CLIP-seq
MIRT1057691	hsa-miR-4644	CLIP-seq
MIRT2548757	hsa-miR-4651	CLIP-seq
MIRT2548758	hsa-miR-4664-5p	CLIP-seq
MIRT2245533	hsa-miR-4710	CLIP-seq
MIRT2013282	hsa-miR-4717-3p	CLIP-seq
MIRT2548759	hsa-miR-4804-5p	CLIP-seq
MIRT2548760	hsa-miR-490-5p	CLIP-seq
MIRT2548761	hsa-miR-491-5p	CLIP-seq
MIRT2548762	hsa-miR-518a-5p	CLIP-seq
MIRT2548763	hsa-miR-527	CLIP-seq
MIRT2548764	hsa-miR-608	CLIP-seq
MIRT2548748	hsa-miR-184	CLIP-seq
MIRT1057669	hsa-miR-185	CLIP-seq
MIRT2548749	hsa-miR-2681	CLIP-seq
MIRT1057677	hsa-miR-3175	CLIP-seq
MIRT2548750	hsa-miR-342-5p	CLIP-seq
MIRT2548751	hsa-miR-3622b-5p	CLIP-seq
MIRT2548752	hsa-miR-3688-3p	CLIP-seq
MIRT2548753	hsa-miR-3978	CLIP-seq
MIRT2548755	hsa-miR-4304	CLIP-seq
MIRT1057686	hsa-miR-4306	CLIP-seq
MIRT2548756	hsa-miR-4450	CLIP-seq
MIRT2013277	hsa-miR-4643	CLIP-seq
MIRT1057691	hsa-miR-4644	CLIP-seq
MIRT2548757	hsa-miR-4651	CLIP-seq
MIRT2548758	hsa-miR-4664-5p	CLIP-seq
MIRT2013282	hsa-miR-4717-3p	CLIP-seq
MIRT2548759	hsa-miR-4804-5p	CLIP-seq
MIRT2548760	hsa-miR-490-5p	CLIP-seq
MIRT2548761	hsa-miR-491-5p	CLIP-seq
MIRT2548762	hsa-miR-518a-5p	CLIP-seq
MIRT2548763	hsa-miR-527	CLIP-seq
MIRT2548764	hsa-miR-608	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	15989957
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	15989957, 19713937
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	15989956, 19713937, 20023629, 20534529, 21507240, 21522127, 25277244, 26496610, 28169274, 30217973, 32814053, 33961781, 35776542, 36631436
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19713937
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006284	Process	Base-excision repair	IBA
GO:0006284	Process	Base-excision repair	IMP	19713937
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006513	Process	Protein monoubiquitination	IDA	19713937
GO:0006974	Process	DNA damage response	IEA
GO:0007030	Process	Golgi organization	IBA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 34721373
GO:0010637	Process	Negative regulation of mitochondrial fusion	IMP	26214738
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	20534529
GO:0032922	Process	Circadian regulation of gene expression	IMP	20534529
GO:0034450	Function	Ubiquitin-ubiquitin ligase activity	IDA	27746020
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035357	Process	Peroxisome proliferator activated receptor signaling pathway	IDA	12955147
GO:0035359	Process	Negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS
GO:0042742	Process	Defense response to bacterium	IDA	11460167, 18079694
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	9346484, 11460167, 18079694
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	27746020
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	25038658, 27746020
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS
GO:0048511	Process	Rhythmic process	IEA
GO:0061025	Process	Membrane fusion	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	27746020, 30217973
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	26214738
GO:0061630	Function	Ubiquitin protein ligase activity	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	27746020
GO:0140852	Function	Histone ubiquitin ligase activity	IDA	15767685
GO:0141198	Process	Protein branched polyubiquitination	IDA	27746020
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS
GO:1905091	Process	Positive regulation of type 2 mitophagy	IDA	30217973

Other IDs

• MIM: 300697
• HGNC: 30892
• e!Ensembl: ENSG00000086758

Protein

• UniProt ID: Q7Z6Z7
• Protein name: E3 ubiquitin-protein ligase HUWE1 (EC 2.3.2.26) (ARF-binding protein 1) (ARF-BP1) (HECT, UBA and WWE domain-containing protein 1) (HECT-type E3 ubiquitin transferase HUWE1) (Homologous to E6AP carboxyl terminus homologous protein 9) (HectH9) (Large struct
• Protein function: E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15567145, PubMed:15767685, PubMed:15989957, PubMed:17567951, PubMed:18488021, PubMed:19037095, PubMed:19713937, PubMed:20
• PDB: 2EKK, 2MUL, 3G1N, 3H1D, 5C6H, 5LP8, 6FYH, 6MIW, 6PFL, 7AZX, 7JQ9, 7MOP, 7MWD, 7MWE, 7MWF, 8R7O, 8RD0, 8RD1, 8RD7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06012	DUF908	88 → 368	Domain of Unknown Function (DUF908)	Family
  PF06025	DUF913	430 → 814	Domain of Unknown Function (DUF913)	Family
  PF00627	UBA	1317 → 1352	UBA/TS-N domain	Domain
  PF02825	WWE	1616 → 1679	WWE domain	Family
  PF14377	UBM	2960 → 2992	Ubiquitin binding region	Repeat
  PF14377	UBM	3009 → 3043	Ubiquitin binding region	Repeat
  PF14377	UBM	3048 → 3083	Ubiquitin binding region	Repeat
  PF00632	HECT	4067 → 4374	HECT-domain (ubiquitin-transferase)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Weakly expressed in heart, brain and placenta but not in other tissues. Expressed in a number of cell lines, predominantly in those from colorectal carcinomas. {ECO:0000269|PubMed:15567145}.
• Sequence:

  MKVDRTKLKKTPTEAPADCRALIDKLKVCNDEQLLLELQQIKTWNIGKCELYHWVDLLDR
  FDGILADAGQTVENMSWMLVCDRPEREQLKMLLLAVLNFTALLIEYSFSRHLYSSIEHLT
  TLLASSDMQVVLAVLNLLYVFSKRSNYITRLGSDKRTPLLTRLQHLAESWGGKENGFGLA
  ECCRDLHMMKYPPSATTLHFEFYADPGAEVKIEKRTTSNTLHYIHIEQLDKISESPSEIM
  ESLTKMYSIPKDKQMLLFTHIRLAHGFSNHRKRLQAVQARLHAISILVYSNALQESANSI
  LYNGLIEELVDVLQITDKQLMEIKAASLRTLTSIVHLERTPKLSSIIDCTGTASYHGFLP
  VLVRNCIQAMIDPSMDPYPHQFATALFSFLYHLASYDAGGEALVSCGMMEALLKVIKFLG
  DEQDQITFVTRAVRVVDLITNLDMAAFQSHSGLSIFIYRLEHEVDLCRKECPFVIKPKIQ
  RPNTTQEGEEMETDMDGVQCIPQRAALLKSMLNFLKKAIQDPAFSDGIRHVMDGSLPTSL
  KHIISNAEYYGPSLFLLATEVVTVFVFQEPSLLSSLQDNGLTDVMLHALLIKDVPATREV
  LGSLPNVFSALCLNARGLQSFVQCQPFERLFKVLLSPDYLPAMRRRRSSDPLGDTASNLG
  SAVDELMRHQPTLKTDATTAIIKLLEEICNLGRDPKYICQKPSIQKADGTATAPPPRSNH
  AAEEASSEDEEEEEVQAMQSFNSTQQNETEPNQQVVGTEERIPIPLMDYILNVMKFVESI
  LSNNTTDDHCQEFVNQKGLLPLVTILGLPNLPIDFPTSAACQAVAGVCKSILTLSHEPKV
  LQEGLLQLDSILSSLEPLHRPIESPGGSVLLRELACAGNVADATLSAQATPLLHALTAAH
  AYIMMFVHTCRVGQSEIRSISVNQWGSQLGLSVLSKLSQLYCSLVWESTVLLSLCTPNSL
  PSGCEFGQADMQKLVPKDEKAGTTQGGKRSDGEQDGAAGSMDASTQGLLEGIGLDGDTLA
  PMETDEPTASDSKGKSKITPAMAARIKQIKPLLSASSRLGRALAELFGLLVKLCVGSPVR
  QRRSHHAASTTTAPTPAARSTASALTKLLTKGLSWQPPPYTPTPRFRLTFFICSVGFTSP
  MLFDERKYPYHLMLQKFLCSGGHNALFETFNWALSMGGKVPVSEGLEHSDLPDGTGEFLD
  AWLMLVEKMVNPTTVLESPHSLPAKLPGGVQNFPQFSALRFLVVTQKAAFTCIKNLWNRK
  PLKVYGGRMAESMLAILCHILRGEPVIRERLSKEKEGSRGEEDTGQEEGGSRREPQVNQQ
  QLQQLMDMGFTREHAMEALLNTSTMEQATEYLLTHPPPIMGGVVRDLSMSEEDQMMRAIA
  MSLGQDIPMDQRAESPEEVACRKEEEERKAREKQEEEEAKCLEKFQDADPLEQDELHTFT
  DTMLPGCFHLLDELPDTVYRVCDLIMTAIKRNGADYRDMILKQVVNQVWEAADVLIKAAL
  PLTTSDTKTVSEWISQMATLPQASNLATRILLLTLLFEELKLPCAWVVESSGILNVLIKL
  LEVVQPCLQAAKEQKEVQTPKWITPVLLLIDFYEKTAISSKRRAQMTKYLQSNSNNWRWF
  DDRSGRWCSYSASNNSTIDSAWKSGETSVRFTAGRRRYTVQFTTMVQVNEETGNRRPVML
  TLLRVPRLNKNSKNSNGQELEKTLEESKEMDIKRKENKGNDTPLALESTNTEKETSLEET
  KIGEILIQGLTEDMVTVLIRACVSMLGVPVDPDTLHATLRLCLRLTRDHKYAMMFAELKS
  TRMILNLTQSSGFNGFTPLVTLLLRHIIEDPCTLRHTMEKVVRSAATSGAGSTTSGVVSG
  SLGSREINYILRVLGPAACRNPDIFTEVANCCIRIALPAPRGSGTASDDEFENLRIKGPN
  AVQLVKTTPLKPSPLPVIPDTIKEVIYDMLNALAAYHAPEEADKSDPKPGVMTQEVGQLL
  QDMGDDVYQQYRSLTRQSSDFDTQSGFSINSQVFAADGASTETSASGTSQGEASTPEESR
  DGKKDKEGDRASEEGKQKGKGSKPLMPTSTILRLLAELVRSYVGIATLIANYSYTVGQSE
  LIKEDCSVLAFVLDHLLPHTQNAEDKDTPALARLFLASLAAAGSGTDAQVALVNEVKAAL
  GRALAMAESTEKHARLQAVMCIISTIMESCPSTSSFYSSATAKTQHNGMNNIIRLFLKKG
  LVNDLARVPHSLDLSSPNMANTVNAALKPLETLSRIVNQPSSLFGSKSASSKNKSEQDAQ
  GASQDSSSNQQDPGEPGEAEVQEEDHDVTQTEVADGDIMDGEAETDSVVIAGQPEVLSSQ
  EMQVENELEDLIDELLERDGGSGNSTIIVSRSGEDESQEDVLMDEAPSNLSQASTLQANR
  EDSMNILDPEDEEEHTQEEDSSGSNEDEDDSQDEEEEEEEDEEDDQEDDEGEEGDEDDDD
  DGSEMELDEDYPDMNASPLVRFERFDREDDLIIEFDNMFSSATDIPPSPGNIPTTHPLMV
  RHADHSSLTLGSGSSTTRLTQGIGRSQRTLRQLTANTGHTIHVHYPGNRQPNPPLILQRL
  LGPSAAADILQLSSSLPLQSRGRARLLVGNDDVHIIARSDDELLDDFFHDQSTATSQAGT
  LSSIPTALTRWTEECKVLDAESMHDCVSVVKVSIVNHLEFLRDEELEERREKRRKQLAEE
  ETKITDKGKEDKENRDQSAQCTASKSNDSTEQNLSDGTPMPDSYPTTPSSTDAATSESKE
  TLGTLQSSQQQPTLPTPPALGEVPQELQSPAGEGGSSTQLLMPVEPEELGPTRPSGEAET
  TQMELSPAPTITSLSPERAEDSDALTAVSSQLEGSPMDTSSLASCTLEEAVGDTSAAGSS
  EQPRAGSSTPGDAPPAVAEVQGRSDGSGESAQPPEDSSPPASSESSSTRDSAVAISGADS
  RGILEEPLPSTSSEEEDPLAGISLPEGVDPSFLAALPDDIRREVLQNQLGIRPPTRTAPS
  TNSSAPAVVGNPGVTEVSPEFLAALPPAIQEEVLAQQRAEQQRRELAQNASSDTPMDPVT
  FIQTLPSDLRRSVLEDMEDSVLAVMPPDIAAEAQALRREQEARQRQLMHERLFGHSSTSA
  LSAILRSPAFTSRLSGNRGVQYTRLAVQRGGTFQMGGSSSHNRPSGSNVDTLLRLRGRLL
  LDHEALSCLLVLLFVDEPKLNTSRLHRVLRNLCYHAQTRHWVIRSLLSILQRSSESELCI
  ETPKLTTSEEKGKKSSKSCGSSSHENRPLDLLHKMESKSSNQLSWLSVSMDAALGCRTNI
  FQIQRSGGRKHTEKHASGGSTVHIHPQAAPVVCRHVLDTLIQLAKVFPSHFTQQRTKETN
  CESDRERGNKACSPCSSQSSSSGICTDFWDLLVKLDNMNVSRKGKNSVKSVPVSAGGEGE
  TSPYSLEASPLGQLMNMLSHPVIRRSSLLTEKLLRLLSLISIALPENKVSEAQANSGSGA
  SSTTTATSTTSTTTTTAASTTPTPPTAPTPVTSAPALVAATAISTIVVAASTTVTTPTTA
  TTTVSISPTTKGSKSPAKVSDGGSSSTDFKMVSSGLTENQLQLSVEVLTSHSCSEEGLED
  AANVLLQLSRGDSGTRDTVLKLLLNGARHLGYTLCKQIGTLLAELREYNLEQQRRAQCET
  LSPDGLPEEQPQTTKLKGKMQSRFDMAENVVIVASQKRPLGGRELQLPSMSMLTSKTSTQ
  KFFLRVLQVIIQLRDDTRRANKKAKQTGRLGSSGLGSASSIQAAVRQLEAEADAIIQMVR
  EGQRARRQQQAATSESSQSEASVRREESPMDVDQPSPSAQDTQSIASDGTPQGEKEKEER
  PPELPLLSEQLSLDELWDMLGECLKELEESHDQHAVLVLQPAVEAFFLVHATERESKPPV
  RDTRESQLAHIKDEPPPLSPAPLTPATPSSLDPFFSREPSSMHISSSLPPDTQKFLRFAE
  THRTVLNQILRQSTTHLADGPFAVLVDYIRVLDFDVKRKYFRQELERLDEGLRKEDMAVH
  VRRDHVFEDSYRELHRKSPEEMKNRLYIVFEGEEGQDAGGLLREWYMIISREMFNPMYAL
  FRTSPGDRVTYTINPSSHCNPNHLSYFKFVGRIVAKAVYDNRLLECYFTRSFYKHILGKS
  VRYTDMESEDYHFYQGLVYLLENDVSTLGYDLTFSTEVQEFGVCEVRDLKPNGANILVTE
  ENKKEYVHLVCQMRMTGAIRKQLAAFLEGFYEIIPKRLISIFTEQELELLISGLPTIDID
  DLKSNTEYHKYQSNSIQIQWFWRALRSFDQADRAKFLQFVTGTSKVPLQGFAALEGMNGI
  QKFQIHRDDRSTDRLPSAHTCFNQLDLPAYESFEKLRHMLLLAIQECSEGFGLA

• Sequence length: 4374

Pathways

KEGG:

Ubiquitin mediated proteolysis
Mitophagy - animal

Reactome:

Neutrophil degranulation
Antigen processing: Ubiquitination & Proteasome degradation

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
Global developmental delay	Pathogenic	rs2522048985	RCV001255418	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HUWE1-related disorder	Likely pathogenic; Pathogenic	rs2527047592, rs2528040592, rs782650278, rs2524422337, rs2061745581	RCV004529740 RCV004529321 RCV004538968 RCV004527997 RCV004726819	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs886041876, rs1556912828, rs2066881864, rs2067904283	RCV001261371 RCV001260731 RCV001775157 RCV001260735	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked syndromic, Turner type	Pathogenic; Likely pathogenic	rs2146878120, rs2149065229, rs121918527, rs2147247961, rs2526757687, rs2494286656, rs863224879, rs121918525, rs121918526, rs886041876, rs2527048870, rs2522060204, rs2521855715, rs2521675340, rs2521859081, rs1057518704, rs1556909287, rs1556910184, rs1556912828, rs1556913180, rs1556913258, rs1556913268, rs782393002, rs1556955128, rs1556978515, rs1557006873, rs1557006903, rs1557024919, rs1557036757, rs1557036768, rs1064793631, rs1556910261, rs1569509136, rs1569399945, rs1602738933, rs2061745581, rs2067907694	RCV001775220 RCV001809251 RCV001849901 RCV002226975 RCV002280020 RCV002472161 RCV000196924 RCV000011422 RCV000011423 RCV000497622 RCV003234807 RCV003313752 RCV003324242 RCV003329101 RCV004594973 RCV000415182 RCV000497793 RCV000498229 RCV000497693 RCV000498802 RCV000498340 RCV000497612 RCV000497953 RCV000498597 RCV000497337 RCV000498507 RCV000497989 RCV000497459 RCV000498526 RCV000497788 RCV005869483 RCV004594066 RCV000770794 RCV000770789 RCV000995565 RCV001249287 RCV004799606	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs782751503	RCV003991613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs886041876	RCV002274008	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1557036768	RCV005900716	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trigonocephaly-short stature-developmental delay syndrome	Likely pathogenic	rs1569509136	RCV000757996	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked intellectual disability	Likely pathogenic	rs1557036757	RCV003335315	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal corpus callosum morphology	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUWE1-related neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, X-linked 99	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability-hypotonic facies syndrome, X-linked, 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-syndromic X-linked intellectual disability	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rare genetic intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAY MEYER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30026863, 30877109		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	24960692		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24776741	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	37290064	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	22754359, 28739740		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31290456		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28739740		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34493366	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25543140		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25543140, 30026863, 31279706		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28687618		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37170751	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24960692		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15567145, 28003334, 31404287		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	27615324		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	27884935, 29180823	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29118367	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	26339408	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31957018	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	27130160	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	31990679	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28251352	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20488869	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35848447	Inhibit	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate	BEFREE	29307790		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26339408	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	28251352	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26587761		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	37290064	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18252223, 22840365, 23092983, 23721686, 24303071, 24776741, 25652354, 26587761, 28445732, 29118367, 29180823, 29307790, 29651030		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	18252223, 22840365, 23092983, 24776741, 25147182, 27130160, 29118367, 29180823, 31906484, 32381089, 33948573, 36731745	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juberg-Marsidi syndrome	Juberg-Marsidi Syndrome	BEFREE	27130160		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	15989956		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	29180823	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	27615324		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28205209		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30991224	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28739740		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25543140, 30026863, 31279706, 31404287		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28687618		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29966975, 31201299, 31404287		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	27581931		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24960692, 28687618, 28739740, 29738775, 29966975, 31201299, 31404287		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24960692		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18252223		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	18252223		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked Nonsyndromic	Mental retardation	CLINGEN_DG	18252223, 18488021, 19686682, 20231446, 22840365, 23092983, 23721686, 24303071, 24960692, 25652354, 26587761, 27130160, 27418510, 27615324, 28445732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, Syndromic, Turner Type	Mental retardation	ORPHANET_DG	18252223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, Syndromic, Turner Type	Mental retardation	GENOMICS_ENGLAND_DG	18252223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, Syndromic, Turner Type	Mental retardation	CLINVAR_DG	27130160		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, Syndromic, Turner Type	Mental retardation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	26178671	Associate	★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	27901130		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	29884741, 37700273	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15989956, 16269333, 23847377, 27581931, 28003334, 28193319, 28687618, 29966975, 31201299		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27615324, 29118367		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	27615324		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30026863		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26498360		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28687618		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37491606	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32675394	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	36731745	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29966975, 31201299, 31404287		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Say Meyer syndrome	Say meyer syndrome	Pubtator	30797980	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Say Meyer syndrome	Say Meyer Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Scoliosis	Pubtator	29180823	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary microcephaly	Microcephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	26692240		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	31366407	Stimulate	★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	29667327	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30877109		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	27581931		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	27581931		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	27130160		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only