UBE3A (ubiquitin protein ligase E3A)

Gene

• Entrez ID: 7337
• Gene name: Ubiquitin protein ligase E3A
• Gene symbol: UBE3A
• Synonyms (NCBI Gene): ANCR, AS, E6-AP, EPVE6AP, HPVE6A, PIX1
• Chromosome: 15
• Chromosome location: 15q11.2
• Summary: This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelm

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019860	hsa-miR-375	Microarray	20215506
MIRT030496	hsa-miR-24-3p	Microarray	19748357
MIRT019860	hsa-miR-375	PAR-CLIP	21572407
MIRT546137	hsa-miR-5692a	PAR-CLIP	21572407
MIRT546136	hsa-miR-541-5p	PAR-CLIP	21572407
MIRT192300	hsa-miR-944	PAR-CLIP	21572407
MIRT546135	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT546133	hsa-miR-5692b	PAR-CLIP	21572407
MIRT546134	hsa-miR-5692c	PAR-CLIP	21572407
MIRT546132	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT546131	hsa-miR-1206	PAR-CLIP	21572407
MIRT546130	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT192294	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT192299	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT546128	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT546129	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT733700	hsa-miR-26a-5p	ELISA, Immunoprecipitaion (IP), Luciferase reporter assay, Western blotting	33857357
MIRT734437	hsa-miR-302c-3p	Western blotting, Luciferase reporter assay, qRT-PCR	31949242
MIRT019860	hsa-miR-375	PAR-CLIP	21572407
MIRT546137	hsa-miR-5692a	PAR-CLIP	21572407
MIRT546136	hsa-miR-541-5p	PAR-CLIP	21572407
MIRT192300	hsa-miR-944	PAR-CLIP	21572407
MIRT546135	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT546133	hsa-miR-5692b	PAR-CLIP	21572407
MIRT546134	hsa-miR-5692c	PAR-CLIP	21572407
MIRT546132	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT546131	hsa-miR-1206	PAR-CLIP	21572407
MIRT546130	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT192294	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT192299	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT546128	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT546129	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT1469322	hsa-miR-1229	CLIP-seq
MIRT1469323	hsa-miR-124	CLIP-seq
MIRT1469324	hsa-miR-1283	CLIP-seq
MIRT1469325	hsa-miR-2052	CLIP-seq
MIRT1469326	hsa-miR-3065-3p	CLIP-seq
MIRT1469327	hsa-miR-3074-3p	CLIP-seq
MIRT1469328	hsa-miR-3074-5p	CLIP-seq
MIRT1469329	hsa-miR-3143	CLIP-seq
MIRT1469330	hsa-miR-3618	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT1469333	hsa-miR-4282	CLIP-seq
MIRT1469334	hsa-miR-4287	CLIP-seq
MIRT1469335	hsa-miR-4307	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT1469337	hsa-miR-4452	CLIP-seq
MIRT1469338	hsa-miR-4453	CLIP-seq
MIRT1469339	hsa-miR-4469	CLIP-seq
MIRT1469340	hsa-miR-450b-5p	CLIP-seq
MIRT1469341	hsa-miR-4538	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT1469343	hsa-miR-4685-3p	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT1469345	hsa-miR-4713-5p	CLIP-seq
MIRT1469346	hsa-miR-4722-3p	CLIP-seq
MIRT1469347	hsa-miR-4724-5p	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT1469349	hsa-miR-506	CLIP-seq
MIRT1469350	hsa-miR-507	CLIP-seq
MIRT1469351	hsa-miR-513a-3p	CLIP-seq
MIRT1469352	hsa-miR-513c	CLIP-seq
MIRT1469353	hsa-miR-514b-5p	CLIP-seq
MIRT1469354	hsa-miR-522	CLIP-seq
MIRT1469355	hsa-miR-548p	CLIP-seq
MIRT1469356	hsa-miR-557	CLIP-seq
MIRT1469357	hsa-miR-601	CLIP-seq
MIRT1469358	hsa-miR-607	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT1469360	hsa-miR-1244	CLIP-seq
MIRT1469361	hsa-miR-1302	CLIP-seq
MIRT1469362	hsa-miR-197	CLIP-seq
MIRT1469363	hsa-miR-3117-5p	CLIP-seq
MIRT1469364	hsa-miR-3189-3p	CLIP-seq
MIRT1469365	hsa-miR-3689a-3p	CLIP-seq
MIRT1469366	hsa-miR-3689c	CLIP-seq
MIRT1469333	hsa-miR-4282	CLIP-seq
MIRT1469367	hsa-miR-4298	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT1469368	hsa-miR-4704-3p	CLIP-seq
MIRT1469369	hsa-miR-4705	CLIP-seq
MIRT1469347	hsa-miR-4724-5p	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT1469370	hsa-miR-502-5p	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT1469371	hsa-miR-302f	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT1469372	hsa-miR-4711-5p	CLIP-seq
MIRT1469373	hsa-miR-4773	CLIP-seq
MIRT1469351	hsa-miR-513a-3p	CLIP-seq
MIRT1469374	hsa-miR-579	CLIP-seq
MIRT1555327	hsa-miR-3622b-5p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT2141012	hsa-miR-1208	CLIP-seq
MIRT2141013	hsa-miR-1275	CLIP-seq
MIRT2141014	hsa-miR-1297	CLIP-seq
MIRT2141015	hsa-miR-1305	CLIP-seq
MIRT2141016	hsa-miR-1321	CLIP-seq
MIRT2141017	hsa-miR-186	CLIP-seq
MIRT2141018	hsa-miR-204	CLIP-seq
MIRT2141019	hsa-miR-211	CLIP-seq
MIRT2141020	hsa-miR-23a	CLIP-seq
MIRT2141021	hsa-miR-23b	CLIP-seq
MIRT2141022	hsa-miR-23c	CLIP-seq
MIRT2141023	hsa-miR-26a	CLIP-seq
MIRT2141024	hsa-miR-26b	CLIP-seq
MIRT2141025	hsa-miR-300	CLIP-seq
MIRT1469371	hsa-miR-302f	CLIP-seq
MIRT2141026	hsa-miR-3133	CLIP-seq
MIRT2141027	hsa-miR-3140-3p	CLIP-seq
MIRT2141028	hsa-miR-3154	CLIP-seq
MIRT2141029	hsa-miR-3612	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT2141030	hsa-miR-374a	CLIP-seq
MIRT2141031	hsa-miR-374b	CLIP-seq
MIRT2141032	hsa-miR-381	CLIP-seq
MIRT2141033	hsa-miR-4260	CLIP-seq
MIRT1469334	hsa-miR-4287	CLIP-seq
MIRT2141034	hsa-miR-4465	CLIP-seq
MIRT1469339	hsa-miR-4469	CLIP-seq
MIRT2141035	hsa-miR-4488	CLIP-seq
MIRT2141036	hsa-miR-4489	CLIP-seq
MIRT2141037	hsa-miR-452	CLIP-seq
MIRT2141038	hsa-miR-4528	CLIP-seq
MIRT2141039	hsa-miR-4665-5p	CLIP-seq
MIRT2141040	hsa-miR-4676-3p	CLIP-seq
MIRT1469343	hsa-miR-4685-3p	CLIP-seq
MIRT2141041	hsa-miR-4697-5p	CLIP-seq
MIRT1469372	hsa-miR-4711-5p	CLIP-seq
MIRT1469345	hsa-miR-4713-5p	CLIP-seq
MIRT2141042	hsa-miR-4717-3p	CLIP-seq
MIRT2141043	hsa-miR-4739	CLIP-seq
MIRT2141044	hsa-miR-4756-5p	CLIP-seq
MIRT2141045	hsa-miR-4761-5p	CLIP-seq
MIRT1469373	hsa-miR-4773	CLIP-seq
MIRT2141046	hsa-miR-493	CLIP-seq
MIRT2141047	hsa-miR-498	CLIP-seq
MIRT1469358	hsa-miR-607	CLIP-seq
MIRT2141048	hsa-miR-650	CLIP-seq
MIRT2141049	hsa-miR-9	CLIP-seq
MIRT2362072	hsa-miR-1183	CLIP-seq
MIRT2141012	hsa-miR-1208	CLIP-seq
MIRT1469323	hsa-miR-124	CLIP-seq
MIRT1469360	hsa-miR-1244	CLIP-seq
MIRT2362073	hsa-miR-1267	CLIP-seq
MIRT2141014	hsa-miR-1297	CLIP-seq
MIRT2362074	hsa-miR-1298	CLIP-seq
MIRT2141015	hsa-miR-1305	CLIP-seq
MIRT2362075	hsa-miR-132	CLIP-seq
MIRT2141016	hsa-miR-1321	CLIP-seq
MIRT2362076	hsa-miR-139-5p	CLIP-seq
MIRT2362077	hsa-miR-141	CLIP-seq
MIRT2141017	hsa-miR-186	CLIP-seq
MIRT2362078	hsa-miR-200a	CLIP-seq
MIRT2141018	hsa-miR-204	CLIP-seq
MIRT2141019	hsa-miR-211	CLIP-seq
MIRT2362079	hsa-miR-212	CLIP-seq
MIRT2141023	hsa-miR-26a	CLIP-seq
MIRT2141024	hsa-miR-26b	CLIP-seq
MIRT2141025	hsa-miR-300	CLIP-seq
MIRT1469326	hsa-miR-3065-3p	CLIP-seq
MIRT1469328	hsa-miR-3074-5p	CLIP-seq
MIRT2141026	hsa-miR-3133	CLIP-seq
MIRT2141028	hsa-miR-3154	CLIP-seq
MIRT2362080	hsa-miR-3168	CLIP-seq
MIRT2362081	hsa-miR-3180-5p	CLIP-seq
MIRT1469364	hsa-miR-3189-3p	CLIP-seq
MIRT2362082	hsa-miR-320a	CLIP-seq
MIRT2362083	hsa-miR-320b	CLIP-seq
MIRT2362084	hsa-miR-320c	CLIP-seq
MIRT2362085	hsa-miR-320d	CLIP-seq
MIRT2141029	hsa-miR-3612	CLIP-seq
MIRT1469365	hsa-miR-3689a-3p	CLIP-seq
MIRT1469366	hsa-miR-3689c	CLIP-seq
MIRT2141032	hsa-miR-381	CLIP-seq
MIRT2362086	hsa-miR-4255	CLIP-seq
MIRT2362087	hsa-miR-4429	CLIP-seq
MIRT2141034	hsa-miR-4465	CLIP-seq
MIRT2141037	hsa-miR-452	CLIP-seq
MIRT2362088	hsa-miR-4652-3p	CLIP-seq
MIRT2141040	hsa-miR-4676-3p	CLIP-seq
MIRT2362089	hsa-miR-4684-3p	CLIP-seq
MIRT2362090	hsa-miR-4690-3p	CLIP-seq
MIRT2362091	hsa-miR-4693-5p	CLIP-seq
MIRT1469368	hsa-miR-4704-3p	CLIP-seq
MIRT1469369	hsa-miR-4705	CLIP-seq
MIRT1469346	hsa-miR-4722-3p	CLIP-seq
MIRT2362092	hsa-miR-4731-3p	CLIP-seq
MIRT2141043	hsa-miR-4739	CLIP-seq
MIRT2141044	hsa-miR-4756-5p	CLIP-seq
MIRT2141045	hsa-miR-4761-5p	CLIP-seq
MIRT2362093	hsa-miR-4801	CLIP-seq
MIRT2362094	hsa-miR-488	CLIP-seq
MIRT2141046	hsa-miR-493	CLIP-seq
MIRT2362095	hsa-miR-495	CLIP-seq
MIRT2141047	hsa-miR-498	CLIP-seq
MIRT1469370	hsa-miR-502-5p	CLIP-seq
MIRT1469349	hsa-miR-506	CLIP-seq
MIRT1469355	hsa-miR-548p	CLIP-seq
MIRT1469374	hsa-miR-579	CLIP-seq
MIRT1469358	hsa-miR-607	CLIP-seq
MIRT2362096	hsa-miR-633	CLIP-seq
MIRT2141048	hsa-miR-650	CLIP-seq
MIRT2362097	hsa-miR-664	CLIP-seq
MIRT2362098	hsa-miR-802	CLIP-seq
MIRT2362099	hsa-miR-935	CLIP-seq
MIRT2362077	hsa-miR-141	CLIP-seq
MIRT2362078	hsa-miR-200a	CLIP-seq
MIRT2396595	hsa-miR-3163	CLIP-seq
MIRT2362089	hsa-miR-4684-3p	CLIP-seq
MIRT2396596	hsa-miR-4781-3p	CLIP-seq
MIRT2655785	hsa-miR-1179	CLIP-seq
MIRT2655786	hsa-miR-218	CLIP-seq
MIRT2655787	hsa-miR-219-1-3p	CLIP-seq
MIRT2655788	hsa-miR-3064-3p	CLIP-seq
MIRT2655789	hsa-miR-3120-5p	CLIP-seq
MIRT2655790	hsa-miR-3616-3p	CLIP-seq
MIRT1555327	hsa-miR-3622b-5p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT2655791	hsa-miR-4275	CLIP-seq
MIRT2655792	hsa-miR-4277	CLIP-seq
MIRT2655793	hsa-miR-4303	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT2655794	hsa-miR-4318	CLIP-seq
MIRT2655795	hsa-miR-4328	CLIP-seq
MIRT2655796	hsa-miR-4446-3p	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT2655797	hsa-miR-4649-3p	CLIP-seq
MIRT2362091	hsa-miR-4693-5p	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT2655798	hsa-miR-4721	CLIP-seq
MIRT2655799	hsa-miR-4775	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT2362095	hsa-miR-495	CLIP-seq
MIRT2655800	hsa-miR-543	CLIP-seq
MIRT2655801	hsa-miR-561	CLIP-seq
MIRT2655802	hsa-miR-571	CLIP-seq
MIRT2655803	hsa-miR-584	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT2655804	hsa-miR-892a	CLIP-seq
MIRT2655786	hsa-miR-218	CLIP-seq
MIRT2655787	hsa-miR-219-1-3p	CLIP-seq
MIRT2655790	hsa-miR-3616-3p	CLIP-seq
MIRT1555327	hsa-miR-3622b-5p	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT2655793	hsa-miR-4303	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT2655794	hsa-miR-4318	CLIP-seq
MIRT2655796	hsa-miR-4446-3p	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT2655797	hsa-miR-4649-3p	CLIP-seq
MIRT2362091	hsa-miR-4693-5p	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT2655798	hsa-miR-4721	CLIP-seq
MIRT2655799	hsa-miR-4775	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT2655801	hsa-miR-561	CLIP-seq
MIRT2655802	hsa-miR-571	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT2655804	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0000502	Component	Proteasome complex	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	12890688, 24105792
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	7624774, 9467941, 12207887, 12620801, 15890204, 16493710, 16772533, 17023019, 17166906, 21653829, 22483108, 22810586, 22898364, 23393263, 24722188, 24728990, 25416956, 25910212, 26789255, 29426014, 31515488, 31988313, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0006508	Process	Proteolysis	TAS	8221889
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	8221889
GO:0007420	Process	Brain development	TAS	8988171
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030518	Process	Nuclear receptor-mediated steroid hormone signaling pathway	IEA
GO:0030521	Process	Androgen receptor signaling pathway	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	17108031
GO:0031669	Process	Cellular response to nutrient levels	IDA	22980980, 28935770, 31001086
GO:0032570	Process	Response to progesterone	IDA	16772533
GO:0035037	Process	Sperm entry	IEA
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	IMP	24728990
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS	30020076
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048511	Process	Rhythmic process	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050847	Process	Progesterone receptor signaling pathway	IDA	16772533
GO:0051865	Process	Protein autoubiquitination	IDA	24105792
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060736	Process	Prostate gland growth	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	30020076
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	7708685
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	12890688
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0150032	Process	Positive regulation of protein localization to lysosome	IDA	28935770, 31001086
GO:1904262	Process	Negative regulation of TORC1 signaling	IEA
GO:1904262	Process	Negative regulation of TORC1 signaling	ISS	30020076
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	22980980, 28935770, 31001086
GO:1905528	Process	Positive regulation of Golgi lumen acidification	IEA
GO:2000058	Process	Regulation of ubiquitin-dependent protein catabolic process	IBA
GO:2000058	Process	Regulation of ubiquitin-dependent protein catabolic process	IMP	24728990

Other IDs

• MIM: 601623
• HGNC: 12496
• e!Ensembl: ENSG00000114062

Protein

• UniProt ID: Q05086
• Protein name: Ubiquitin-protein ligase E3A (EC 2.3.2.26) (E6AP ubiquitin-protein ligase) (HECT-type ubiquitin transferase E3A) (Human papillomavirus E6-associated protein) (Oncogenic protein-associated protein E6-AP) (Renal carcinoma antigen NY-REN-54)
• Protein function: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates (PubMed:10373495, PubMed:16772533, PubMed:19204938, PubMed:19233847, PubMed:19325566, PubMe
• PDB: 1C4Z, 1D5F, 1EQX, 2KR1, 4GIZ, 4XR8, 6SJV, 6SLM, 6TGK, 6U19, 7Q41, 7QPB, 8ENP, 8EPT, 8GCR, 8JRN, 8JRO, 8JRP, 8JRQ, 8JRR, 8R1F, 8R1G, 9CHT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16558	AZUL	29 → 83	Amino-terminal Zinc-binding domain of ubiquitin ligase E3A	Domain
  PF00632	HECT	576 → 875	HECT-domain (ubiquitin-transferase)	Domain

• Sequence:

  MEKLHQCYWKSGEPQSDDIEASRMKRAAAKHLIERYYHQLTEGCGNEACTNEFCASCPTF
  LRMDNNAAAIKALELYKINAKLCDPHPSKKGASSAYLENSKGAPNNSCSEIKMNKKGARI
  DFKDVTYLTEEKVYEILELCREREDYSPLIRVIGRVFSSAEALVQSFRKVKQHTKEELKS
  LQAKDEDKDEDEKEKAACSAAAMEEDSEASSSRIGDSSQGDNNLQKLGPDDVSVDIDAIR
  RVYTRLLSNEKIETAFLNALVYLSPNVECDLTYHNVYSRDPNYLNLFIIVMENRNLHSPE
  YLEMALPLFCKAMSKLPLAAQGKLIRLWSKYNADQIRRMMETFQQLITYKVISNEFNSRN
  LVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNK
  KGPRVDPLETELGVKTLDCRKPLIPFEEFINEPLNEVLEMDKDYTFFKVETENKFSFMTC
  PFILNAVTKNLGLYYDNRIRMYSERRITVLYSLVQGQQLNPYLRLKVRRDHIIDDALVRL
  EMIAMENPADLKKQLYVEFEGEQGVDEGGVSKEFFQLVVEEIFNPDIGMFTYDESTKLFW
  FNPSSFETEGQFTLIGIVLGLAIYNNCILDVHFPMVVYRKLMGKKGTFRDLGDSHPVLYQ
  SLKDLLEYEGNVEDDMMITFQISQTDLFGNPMMYDLKENGDKIPITNENRKEFVNLYSDY
  ILNKSVEKQFKAFRRGFHMVTNESPLKYLFRPEEIELLICGSRNLDFQALEETTEYDGGY
  TRDSVLIREFWEIVHSFTDEQKRLFLQFTTGTDRAPVGGLGKLKMIIAKNGPDTERLPTS
  HTCFNVLLLPEYSSKEKLKERLLKAITYAKGFGML

• Sequence length: 875

Pathways

KEGG:

Ubiquitin mediated proteolysis
Human papillomavirus infection
Viral carcinogenesis

Reactome:

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
Angelman syndrome	Pathogenic; Likely pathogenic	rs2080191422, rs398124440, rs2152694181, rs2152515149, rs2152848080, rs2152507134, rs2077884610, rs1445563777, rs2152684235, rs2152693602, rs2152683847, rs587781225, rs2152515439, rs587780565, rs587780566, rs587780567, rs587780568, rs587780569, rs587780570, rs587780571, rs587780572, rs587780573, rs587780574, rs587780575, rs587780576, rs587780577, rs587780578, rs587780579, rs587780580, rs76794400, rs587780581, rs587780582, rs587780583, rs587780584, rs587780585, rs2152514800, rs2152823877, rs2152848314, rs587781190, rs587781191, rs587781192, rs587781193, rs587781194, rs587781195, rs587781196, rs587781197, rs587781198, rs587781199, rs587781200, rs587781201, rs587781202, rs587781203, rs587781204, rs587781205, rs587781206, rs587781207, rs587781208, rs587781209, rs587781210, rs587781211, rs587781212, rs587781213, rs587781214, rs587781215, rs587781216, rs587781217, rs587781218, rs587781219, rs587781220, rs587781221, rs587781222, rs587781223, rs587781224, rs1555379745, rs587781226, rs587781227, rs1555379684, rs587781228, rs587781229, rs587781231, rs587781232, rs587781233, rs587781234, rs587781235, rs587781236, rs587781237, rs587781238, rs587781239, rs587781240, rs587781241, rs587781242, rs587781243, rs587781244, rs587783097, rs2152819923, rs2152514807, rs587784527, rs587784526, rs587784521, rs587784520, rs587782919, rs587784519, rs587784518, rs587784516, rs587784515, rs587784514, rs587784513, rs587784512, rs587784509, rs587784508, rs587784534, rs587784533, rs587784532, rs587784531, rs587784530, rs587784529, rs2552181711, rs2552188272, rs2552182305, rs863225070, rs863225068, rs2552193075, rs797046088, rs1555379800, rs587781230, rs797046087, rs797046086, rs797046085, rs797046084, rs863224940, rs2552191754, rs864309508, rs864309506, rs111033594, rs111033595, rs111033596, rs111033597, rs2152505917, rs2552191808, rs2552191543, rs2552187400, rs2552191711, rs2552186613, rs886039516, rs886041603, rs2552188288, rs2552186527, rs2552193014, rs2552187404, rs2552191771, rs2552187375, rs2552181688, rs2552181680, rs2552191496, rs2552191684, rs2552186646, rs1057519062, rs1064792950, rs1064795001, rs1064795012, rs1064793307, rs1555399937, rs1490279918, rs1555380809, rs1555380820, rs1555391286, rs1555400239, rs1555393242, rs1566954070, rs1566959617, rs1566961418, rs1595375255, rs1595375630, rs1595804239, rs1207660411, rs1595362860, rs1595572384, rs1595591164, rs997044541, rs2552186598, rs2074508602, rs2080231132, rs2080238010, rs2080245178, rs2076939980, rs2074288628, rs2077166492, rs2077275624, rs2074504404, rs2074511604	RCV001334474 RCV002513849 RCV001726508 RCV001379188 RCV001377695 RCV001386580 RCV001788548 RCV001706787 RCV001785106 RCV001990284 RCV001994246 RCV001933306 RCV001931349 RCV000144538 RCV000144539 RCV000144540 RCV000144541 RCV000144542 RCV000144543 RCV000144544 RCV000144545 RCV000144546 RCV000144547 RCV000144548 RCV000144549 RCV000144550 RCV000144551 RCV000144552 RCV000144553 RCV000144554 RCV000144555 RCV000144556 RCV000144557 RCV000144558 RCV000144559 RCV001926484 RCV002002385 RCV001864353 RCV000144264 RCV000144265 RCV000144266 RCV000144267 RCV000144268 RCV000144269 RCV000144270 RCV000144271 RCV000144272 RCV000144273 RCV000144274 RCV000144275 RCV000144276 RCV000144277 RCV000144278 RCV000144279 RCV000144280 RCV000144281 RCV000144282 RCV000144283 RCV000144284 RCV000144285 RCV000144286 RCV000144287 RCV000144288 RCV000144289 RCV000144290 RCV000144291 RCV000144292 RCV000144293 RCV000144294 RCV000144295 RCV000144296 RCV000144297 RCV000144298 RCV000144299 RCV000144300 RCV000144301 RCV000144302 RCV000144303 RCV000144304 RCV000144305 RCV000144306 RCV000144307 RCV000144308 RCV000144309 RCV000144310 RCV000144311 RCV000144312 RCV000144313 RCV000144314 RCV000144315 RCV000144316 RCV000144317 RCV000144318 RCV000144319 RCV000144320 RCV000144321 RCV000147882 RCV002226830 RCV002246802 RCV000147883 RCV000147881 RCV000147875 RCV000147874 RCV000147873 RCV000147872 RCV000147870 RCV000147868 RCV000147867 RCV000147866 RCV000147865 RCV000147864 RCV000147860 RCV000147859 RCV000147892 RCV000147891 RCV000147889 RCV000147888 RCV000147887 RCV000147886 RCV002280268 RCV002287308 RCV002466383 RCV000701063 RCV000633514 RCV002851452 RCV000194248 RCV000193223 RCV000194169 RCV000195178 RCV000193045 RCV000194009 RCV000194951 RCV000196394 RCV003005988 RCV000202543 RCV000202457 RCV000008430 RCV000008431 RCV000008432 RCV000008433 RCV000008436 RCV002810041 RCV003133066 RCV003152877 RCV003223601 RCV003224755 RCV004546472 RCV000509135 RCV003333363 RCV003334463 RCV003340751 RCV003445292 RCV003510753 RCV003621118 RCV003621059 RCV003621356 RCV003621355 RCV003621454 RCV004560509 RCV000416334 RCV000470807 RCV001507065 RCV000989273 RCV000690582 RCV001044278 RCV002248757 RCV000543322 RCV005859348 RCV002280132 RCV001507035 RCV000677659 RCV000688988 RCV000699666 RCV001507036 RCV000810663 RCV000824274 RCV000799398 RCV000853580 RCV000989270 RCV000989271 RCV000989272 RCV000989274 RCV000989275 RCV001004699 RCV001048607 RCV001050018 RCV001071345 RCV001221493 RCV001203004 RCV001235083 RCV001260931 RCV001264747 RCV001265637 RCV001290256	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental delay	Likely pathogenic	rs1057518777	RCV000414808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Pathogenic	rs863225068	RCV001799632	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs587784527, rs1057518777, rs1595808957, rs997044541, rs2074492359	RCV001260843 RCV000414808 RCV000850199 RCV001260805 RCV001260778	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs587781239	RCV003389042	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UBE3A-related disorder	Pathogenic; Likely pathogenic	rs587780570, rs587781200, rs864309508, rs772110423, rs2552181706, rs2552181695, rs1064793307	RCV004730877 RCV004730881 RCV003401095 RCV003406229 RCV003406233 RCV003408426 RCV003900014	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
15Q11Q13 MICRODUPLICATION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGELMAN SYNDROME DUE TO A POINT MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGELMAN SYNDROME DUE TO IMPRINTING DEFECT IN 15Q11-Q13	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGELMAN SYNDROME DUE TO MATERNAL 15Q11Q13 DELETION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGELMAN SYNDROME DUE TO MATERNAL MONOSOMY 15Q11Q13	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGELMAN SYNDROME DUE TO PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPLICATION 15Q11-Q13 SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
15q11q13 microduplication syndrome	15q11q13 microduplication syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angelman Syndrome	Angelman Syndrome	BEFREE	10089011, 10196695, 10424818, 10558980, 10647895, 10732796, 11238684, 11258627, 11543639, 11579431, 11748306, 12210318, 12566516, 12973656, 14510623, 14641994, 14981718, 15014980, 15054837, 15150776, 15213998, 15263005, 15273504, 15470370, 15521981, 15565282, 15607424, 15668048, 15866439, 15901461, 16162432, 16368707, 16740422, 16905559, 17036311, 17055792, 17095305, 17347796, 17940072, 17962046, 17965627, 17980307, 18413322, 18487518, 18627066, 18701717, 18793139, 19213023, 19233847, 19455185, 19617463, 19874386, 19894069, 20034088, 20184619, 20212164, 20351251, 20445456, 20571502, 20635355, 20729760, 20876107, 20933619, 21029865, 21204213, 21362313, 21397058, 21493713, 21592595, 21733131, 22142420, 22426236, 22493002, 22560727, 22566713, 22645313, 22704603, 22830052, 23243086, 23256887, 23416059, 23447592, 23551092, 23626758, 23686718, 23913711, 23918391, 24058414, 24385930, 24779060, 24796722, 25099823, 25212744, 25660546, 25734270, 26040994, 26255772, 26558806, 26559560, 27232889, 27323188, 27327493, 27339004, 27484051, 27581300, 27860204, 27986596, 28214999, 28411125, 28436452, 28499489, 28576709, 28804447, 28814801, 28890050, 28898887, 29016856, 29162042, 29250725, 29266714, 29388081, 29426014, 29555100, 29788202, 30016768, 30020076, 30082419, 30220990, 30257870, 30352049, 30364390, 30392784, 30470726, 30605843, 30674673, 30681431, 30690483, 30706369, 30826071, 31087000, 31114479, 31130875, 31143434, 31160454, 31173236, 31182707, 31235931, 31401139, 31445164, 31490639, 31625566, 31640736, 31730795, 31798818, 8988171, 8988172, 9110176, 9288101, 9321755, 9545097, 9546330, 9585605, 9600250, 9763493, 9887341, 9891052		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angelman Syndrome	Angelman syndrome	Pubtator	10424818, 10647895, 11258627, 11748306, 14966115, 16162432, 17036311, 17965627, 20729760, 21204213, 21587322, 21633703, 22426236, 22645313, 23256887, 23671107, 25633294, 26161728, 26216987, 27484051, 27626634, 27769316, 28436452, 28559284, 28925810, 29737008, 30257870, 30296670, 30470726, 30605843, 30826071, 31173236, 31640736, 31854050, 32639967, 32792659, 32893075, 32970510, 34047077, 34675349, 34872019, 34979033, 35045253, 35304979, 35339881, 35489268, 35929060, 36011358, 36282706, 9321755, 9585605, 9891052	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angelman Syndrome	Angelman Syndrome	CLINVAR_DG	11748306, 14981718, 19213023, 20034088, 24796722, 25212744, 26255772, 26993267, 29188609, 9887341		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angelman Syndrome	Angelman Syndrome	LHGDN	12725589, 14981718, 15054837, 17765640, 18487518		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angelman Syndrome	Angelman Syndrome	CLINGEN_DG	14981718, 19213023, 24385930, 27174604, 8988171, 8988172, 9288087, 9808466		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angelman Syndrome	Angelman syndrome	Pubtator	15607424, 32152487, 32916124, 35218942, 36012404	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angelman Syndrome	Angelman Syndrome	CTD_human_DG	15878204		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angelman Syndrome	Angelman Syndrome	GENOMICS_ENGLAND_DG	18500341		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angelman Syndrome	Angelman Syndrome	UNIPROT_DG	25212744, 9585605		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angelman syndrome due to a point mutation	Angelman Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angelman syndrome due to imprinting defect in 15q11-q13	Angelman Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angelman syndrome due to maternal 15q11q13 deletion	Angelman Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angelman syndrome due to paternal uniparental disomy of chromosome 15	Angelman Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	10424818	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22645313, 26216987, 30257870, 31312421, 32722525, 33308194	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	16905559, 17415598, 21029865, 21624971, 22645313, 23468062, 25687563, 27365114, 29076503, 29175955, 29388081, 29426014, 30257870, 30364390, 30787400, 31114479, 31160454		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	10089011, 11543639, 15389703, 15521981, 15615769, 18186074, 20609483, 23495136, 23626758, 24292889, 26255772, 27232889, 28297715, 28411125, 28559284, 29175955, 29388081, 30082419, 30364390, 30568575, 30814928, 30897394, 31202261, 31798818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	11543639, 19404257, 20609483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	19404257, 19557195, 28559284, 28835500, 28925810, 33116122, 33308194, 36282706	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	21633703	Associate	★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	15878204		★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	28411125		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	32871949	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29476310		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17004105, 19263197, 22589186, 27716745, 28978036		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30154397, 31329371	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	14710229, 30361475	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35368029, 36367018	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	31681945	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24337433		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	31681945	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortex myoclonus	Cerebral Cortex Myoclonus	BEFREE	24796722		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	10558980, 15994823, 20530688, 26224081, 26318036, 30361475, 9053858		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	24346120		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10558980, 15994823, 20530688, 26224081, 26318036, 30361475, 9053858		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	36989302	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	21029865, 28804447		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27983539		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27983539, 30154397	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32152487	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	17036311, 26216987, 26993267, 30737286, 31088393, 35045253, 35225435	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	31173236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	31182707		★☆☆☆☆ Found in Text Mining only
Duplication 15q11-q13 Syndrome	15q11q13 microduplication syndrome	ORPHANET_DG	25884337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15263005, 16470747, 17765640, 17940072, 19213023, 22670133, 2309781, 24876791, 25212744, 25884337, 26219744, 8988171		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	12973656, 15668048, 16162432, 24796722, 27323320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	15878204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	30977854, 36011358	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	15878204		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	29555100		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30230575		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	28499489		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28251352	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29476310		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29476310		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24796722, 25884337, 28436452, 30690483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	10424818	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22787151, 28007908, 31445164		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	28251352	Associate	★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	21733131		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28804447, 31625566		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17036311, 28411125, 30690483, 31182707		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	24058414, 31088393, 35225435, 9321755, 9891052	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	16053909		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	35368029	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	33116122	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	23598402	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23598402	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23598402		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29217762		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	31949242	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17004105, 19263197, 22589186, 27716745, 28978036		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26261538, 27641331, 28477016, 29463595		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15994823, 24091829, 26224081, 26261538, 26318036, 28214999, 28559284, 29217762, 29263404, 29463595, 29931810		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10558980, 15994823, 20530688, 26224081, 26318036, 30361475, 9053858		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16951183		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21553290, 22589186		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	35531878	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17036311		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	21633703	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	11579431		★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	21633703	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	15263005, 16470747, 17765640, 17940072, 19213023, 22670133, 2309781, 24876791, 25212744, 25884337, 26219744, 8988171		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21553290, 27716745, 29217762, 29463595		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10558980, 18793139, 25660546, 30020076, 30470726, 31130875, 9891052		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28925810, 31130875		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19233847		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	15607424, 15615769, 16740422, 19656775, 20033293, 20351251, 21204213, 23468062, 23686718, 25212744, 26255772, 26585570, 27581300, 29016856, 29263404, 30082419, 30364390, 30686997, 30690483, 30737286, 31087000, 31114479, 31160454, 31625566, 31640736		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28074012, 30154397		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30897394		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21204213, 25402239, 30230575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	21204213	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28679390, 31727012	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31727012		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	27641331, 8004100		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19645749		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30364390, 31160454		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	BEFREE	16162432		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	10400982, 12210318, 12920063, 16075369, 17339270, 18627066, 19894069, 20876107, 21587322, 22426236, 22493002, 23918391, 24363065, 28024084		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26261538, 27641331, 28477016, 29463595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25231954, 38423246	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26261538, 28477016	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	30897394		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	15757975, 16754645, 17339270		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30897394		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	10424818, 17036311, 9891052	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	9891052		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	30690483		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	10624951		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30510267		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	16162432, 34872019	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30230575		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	15659843, 19894069		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	10864652, 11158620, 15994823, 26161728, 26216987, 26224081, 30361475	Associate	★☆☆☆☆ Found in Text Mining only