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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23327
Gene name	NEDD4 like E3 ubiquitin protein ligase
Gene symbol	NEDD4L
Synonyms (NCBI Gene)	NEDD4-2NEDD4.2PVNH7RSP5hNEDD4-2
Chromosome	18
Chromosome location	18q21.31
Summary	This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation

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SNP ID	Visualize variation	Clinical significance	Consequence
rs4149601	G>A	Drug-response	Coding sequence variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, intron variant

585

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030590	hsa-miR-24-3p	Microarray	19748357
MIRT038151	hsa-miR-423-5p	CLASH	23622248
MIRT036071	hsa-miR-1296-5p	CLASH	23622248
MIRT545531	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545530	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT545529	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545528	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545527	hsa-miR-3924	PAR-CLIP	21572407
MIRT545531	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545530	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT545529	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545528	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545527	hsa-miR-3924	PAR-CLIP	21572407
MIRT461515	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT461514	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT461513	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT461512	hsa-miR-4257	PAR-CLIP	23592263
MIRT461511	hsa-miR-4459	PAR-CLIP	23592263
MIRT461510	hsa-miR-665	PAR-CLIP	23592263
MIRT461509	hsa-miR-4786-3p	PAR-CLIP	23592263
MIRT461508	hsa-miR-5186	PAR-CLIP	23592263
MIRT461507	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT461506	hsa-miR-558	PAR-CLIP	23592263
MIRT461505	hsa-miR-4487	PAR-CLIP	23592263
MIRT461504	hsa-miR-1827	PAR-CLIP	23592263
MIRT461503	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT461502	hsa-miR-6086	PAR-CLIP	23592263
MIRT461501	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT461500	hsa-miR-3612	PAR-CLIP	23592263
MIRT461499	hsa-miR-650	PAR-CLIP	23592263
MIRT461498	hsa-miR-4792	PAR-CLIP	23592263
MIRT461497	hsa-miR-4710	PAR-CLIP	23592263
MIRT461496	hsa-miR-7843-3p	PAR-CLIP	23592263
MIRT461495	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT461494	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT461504	hsa-miR-1827	PAR-CLIP	26701625
MIRT461514	hsa-miR-1910-3p	PAR-CLIP	26701625
MIRT461501	hsa-miR-2467-3p	PAR-CLIP	26701625
MIRT461507	hsa-miR-3160-3p	PAR-CLIP	26701625
MIRT461500	hsa-miR-3612	PAR-CLIP	26701625
MIRT461503	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT461512	hsa-miR-4257	PAR-CLIP	26701625
MIRT461511	hsa-miR-4459	PAR-CLIP	26701625
MIRT461505	hsa-miR-4487	PAR-CLIP	26701625
MIRT461515	hsa-miR-4695-5p	PAR-CLIP	26701625
MIRT461497	hsa-miR-4710	PAR-CLIP	26701625
MIRT461509	hsa-miR-4786-3p	PAR-CLIP	26701625
MIRT461498	hsa-miR-4792	PAR-CLIP	26701625
MIRT461506	hsa-miR-558	PAR-CLIP	26701625
MIRT461502	hsa-miR-6086	PAR-CLIP	26701625
MIRT461499	hsa-miR-650	PAR-CLIP	26701625
MIRT461513	hsa-miR-6511a-5p	PAR-CLIP	26701625
MIRT461510	hsa-miR-665	PAR-CLIP	26701625
MIRT461496	hsa-miR-7843-3p	PAR-CLIP	26701625
MIRT461494	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT733722	hsa-miR-3679-5p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)Immunohistochemistry (IHC)qRT-PCR	33748098
MIRT734164	hsa-miR-513a-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blotting	31805126
MIRT545531	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545530	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT545529	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545528	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545527	hsa-miR-3924	PAR-CLIP	21572407
MIRT545531	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545530	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT545529	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545528	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545527	hsa-miR-3924	PAR-CLIP	21572407
MIRT461515	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT461514	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT461513	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT461512	hsa-miR-4257	PAR-CLIP	23592263
MIRT461511	hsa-miR-4459	PAR-CLIP	23592263
MIRT461510	hsa-miR-665	PAR-CLIP	23592263
MIRT461509	hsa-miR-4786-3p	PAR-CLIP	23592263
MIRT461508	hsa-miR-5186	PAR-CLIP	23592263
MIRT461507	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT461506	hsa-miR-558	PAR-CLIP	23592263
MIRT461505	hsa-miR-4487	PAR-CLIP	23592263
MIRT461504	hsa-miR-1827	PAR-CLIP	23592263
MIRT461503	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT461502	hsa-miR-6086	PAR-CLIP	23592263
MIRT461501	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT461500	hsa-miR-3612	PAR-CLIP	23592263
MIRT461499	hsa-miR-650	PAR-CLIP	23592263
MIRT461498	hsa-miR-4792	PAR-CLIP	23592263
MIRT461497	hsa-miR-4710	PAR-CLIP	23592263
MIRT461496	hsa-miR-7843-3p	PAR-CLIP	23592263
MIRT461495	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT461494	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT1179808	hsa-miR-10a	CLIP-seq
MIRT1179809	hsa-miR-10b	CLIP-seq
MIRT1179810	hsa-miR-193a-3p	CLIP-seq
MIRT1179811	hsa-miR-193b	CLIP-seq
MIRT1179812	hsa-miR-3202	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT1179814	hsa-miR-3937	CLIP-seq
MIRT1179815	hsa-miR-4476	CLIP-seq
MIRT1179816	hsa-miR-4682	CLIP-seq
MIRT1179817	hsa-miR-4690-5p	CLIP-seq
MIRT1179818	hsa-miR-622	CLIP-seq
MIRT1179819	hsa-miR-873	CLIP-seq
MIRT1179820	hsa-miR-892b	CLIP-seq
MIRT1179821	hsa-miR-935	CLIP-seq
MIRT1179822	hsa-miR-1294	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT1179824	hsa-miR-24	CLIP-seq
MIRT1179825	hsa-miR-4252	CLIP-seq
MIRT1179826	hsa-miR-4284	CLIP-seq
MIRT1179827	hsa-miR-4293	CLIP-seq
MIRT1179828	hsa-miR-4316	CLIP-seq
MIRT1179829	hsa-miR-4466	CLIP-seq
MIRT1179830	hsa-miR-4677-3p	CLIP-seq
MIRT1179831	hsa-miR-4746-3p	CLIP-seq
MIRT1179832	hsa-miR-4793-3p	CLIP-seq
MIRT1179833	hsa-miR-4797-5p	CLIP-seq
MIRT1179834	hsa-miR-508-5p	CLIP-seq
MIRT1179835	hsa-miR-548v	CLIP-seq
MIRT1179836	hsa-miR-610	CLIP-seq
MIRT1179837	hsa-miR-675	CLIP-seq
MIRT1179838	hsa-miR-766	CLIP-seq
MIRT1179839	hsa-miR-129-5p	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT1179840	hsa-miR-2355-3p	CLIP-seq
MIRT1179841	hsa-miR-3136-3p	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT1179812	hsa-miR-3202	CLIP-seq
MIRT1179843	hsa-miR-3670	CLIP-seq
MIRT1179844	hsa-miR-3677-5p	CLIP-seq
MIRT1179845	hsa-miR-3682-5p	CLIP-seq
MIRT1179846	hsa-miR-3929	CLIP-seq
MIRT1179825	hsa-miR-4252	CLIP-seq
MIRT1179827	hsa-miR-4293	CLIP-seq
MIRT1179847	hsa-miR-4419b	CLIP-seq
MIRT1179848	hsa-miR-4478	CLIP-seq
MIRT1179849	hsa-miR-4533	CLIP-seq
MIRT1179850	hsa-miR-4646-3p	CLIP-seq
MIRT1179851	hsa-miR-4649-3p	CLIP-seq
MIRT1179832	hsa-miR-4793-3p	CLIP-seq
MIRT1179834	hsa-miR-508-5p	CLIP-seq
MIRT1179852	hsa-miR-606	CLIP-seq
MIRT1179853	hsa-miR-663b	CLIP-seq
MIRT1179854	hsa-miR-676	CLIP-seq
MIRT1179838	hsa-miR-766	CLIP-seq
MIRT1179855	hsa-miR-1284	CLIP-seq
MIRT1179856	hsa-miR-2682	CLIP-seq
MIRT1179857	hsa-miR-300	CLIP-seq
MIRT1179858	hsa-miR-3152-5p	CLIP-seq
MIRT1179859	hsa-miR-3158-3p	CLIP-seq
MIRT1179860	hsa-miR-3158-5p	CLIP-seq
MIRT1179861	hsa-miR-3179	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT1179862	hsa-miR-323-5p	CLIP-seq
MIRT1179863	hsa-miR-338-3p	CLIP-seq
MIRT1179864	hsa-miR-3622a-3p	CLIP-seq
MIRT1179865	hsa-miR-3622b-3p	CLIP-seq
MIRT1179843	hsa-miR-3670	CLIP-seq
MIRT1179866	hsa-miR-3678-3p	CLIP-seq
MIRT1179867	hsa-miR-3690	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT1179868	hsa-miR-381	CLIP-seq
MIRT1179869	hsa-miR-4254	CLIP-seq
MIRT1179870	hsa-miR-4261	CLIP-seq
MIRT1179871	hsa-miR-4269	CLIP-seq
MIRT1179872	hsa-miR-4433	CLIP-seq
MIRT1179873	hsa-miR-4435	CLIP-seq
MIRT1179874	hsa-miR-449c	CLIP-seq
MIRT1179875	hsa-miR-4514	CLIP-seq
MIRT1179876	hsa-miR-4662a-5p	CLIP-seq
MIRT1179877	hsa-miR-4666-3p	CLIP-seq
MIRT1179878	hsa-miR-4676-5p	CLIP-seq
MIRT1179879	hsa-miR-4692	CLIP-seq
MIRT1179880	hsa-miR-4742-5p	CLIP-seq
MIRT1179881	hsa-miR-4755-3p	CLIP-seq
MIRT1179882	hsa-miR-4763-5p	CLIP-seq
MIRT1179883	hsa-miR-4768-3p	CLIP-seq
MIRT1179884	hsa-miR-4774-3p	CLIP-seq
MIRT1179885	hsa-miR-510	CLIP-seq
MIRT1179886	hsa-miR-541	CLIP-seq
MIRT1179887	hsa-miR-544b	CLIP-seq
MIRT1179888	hsa-miR-548aa	CLIP-seq
MIRT1179889	hsa-miR-548ac	CLIP-seq
MIRT1179890	hsa-miR-548c-3p	CLIP-seq
MIRT1179891	hsa-miR-548d-3p	CLIP-seq
MIRT1179892	hsa-miR-548z	CLIP-seq
MIRT1179893	hsa-miR-550a	CLIP-seq
MIRT1179894	hsa-miR-575	CLIP-seq
MIRT1179895	hsa-miR-602	CLIP-seq
MIRT1179896	hsa-miR-654-5p	CLIP-seq
MIRT1179897	hsa-miR-875-3p	CLIP-seq
MIRT1179898	hsa-miR-876-3p	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT2052000	hsa-miR-1183	CLIP-seq
MIRT2052001	hsa-miR-1208	CLIP-seq
MIRT2052002	hsa-miR-1226	CLIP-seq
MIRT2052003	hsa-miR-127-5p	CLIP-seq
MIRT1179824	hsa-miR-24	CLIP-seq
MIRT2052004	hsa-miR-3137	CLIP-seq
MIRT1179861	hsa-miR-3179	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT1179862	hsa-miR-323-5p	CLIP-seq
MIRT2052005	hsa-miR-34a	CLIP-seq
MIRT2052006	hsa-miR-34c-5p	CLIP-seq
MIRT1179864	hsa-miR-3622a-3p	CLIP-seq
MIRT1179865	hsa-miR-3622b-3p	CLIP-seq
MIRT1179867	hsa-miR-3690	CLIP-seq
MIRT1179846	hsa-miR-3929	CLIP-seq
MIRT1179825	hsa-miR-4252	CLIP-seq
MIRT1179869	hsa-miR-4254	CLIP-seq
MIRT1179870	hsa-miR-4261	CLIP-seq
MIRT1179847	hsa-miR-4419b	CLIP-seq
MIRT1179872	hsa-miR-4433	CLIP-seq
MIRT1179848	hsa-miR-4478	CLIP-seq
MIRT2052007	hsa-miR-449a	CLIP-seq
MIRT2052008	hsa-miR-449b	CLIP-seq
MIRT2052009	hsa-miR-4635	CLIP-seq
MIRT1179851	hsa-miR-4649-3p	CLIP-seq
MIRT2052010	hsa-miR-466	CLIP-seq
MIRT1179876	hsa-miR-4662a-5p	CLIP-seq
MIRT1179878	hsa-miR-4676-5p	CLIP-seq
MIRT1179881	hsa-miR-4755-3p	CLIP-seq
MIRT1179883	hsa-miR-4768-3p	CLIP-seq
MIRT2052011	hsa-miR-4789-5p	CLIP-seq
MIRT1179833	hsa-miR-4797-5p	CLIP-seq
MIRT1179886	hsa-miR-541	CLIP-seq
MIRT1179887	hsa-miR-544b	CLIP-seq
MIRT1179893	hsa-miR-550a	CLIP-seq
MIRT1179894	hsa-miR-575	CLIP-seq
MIRT2052012	hsa-miR-616	CLIP-seq
MIRT1179896	hsa-miR-654-5p	CLIP-seq
MIRT2052013	hsa-miR-664	CLIP-seq
MIRT1179897	hsa-miR-875-3p	CLIP-seq
MIRT1179898	hsa-miR-876-3p	CLIP-seq
MIRT2281201	hsa-let-7a	CLIP-seq
MIRT2281202	hsa-let-7b	CLIP-seq
MIRT2281203	hsa-let-7c	CLIP-seq
MIRT2281204	hsa-let-7d	CLIP-seq
MIRT2281205	hsa-let-7e	CLIP-seq
MIRT2281206	hsa-let-7f	CLIP-seq
MIRT2281207	hsa-let-7g	CLIP-seq
MIRT2281208	hsa-let-7i	CLIP-seq
MIRT2281209	hsa-miR-105	CLIP-seq
MIRT1179808	hsa-miR-10a	CLIP-seq
MIRT1179809	hsa-miR-10b	CLIP-seq
MIRT2281210	hsa-miR-1179	CLIP-seq
MIRT2281211	hsa-miR-1197	CLIP-seq
MIRT2281212	hsa-miR-1202	CLIP-seq
MIRT2281213	hsa-miR-1207-5p	CLIP-seq
MIRT2052001	hsa-miR-1208	CLIP-seq
MIRT2281214	hsa-miR-1224-3p	CLIP-seq
MIRT2281215	hsa-miR-1224-5p	CLIP-seq
MIRT2052002	hsa-miR-1226	CLIP-seq
MIRT2281216	hsa-miR-1229	CLIP-seq
MIRT2281217	hsa-miR-1245	CLIP-seq
MIRT2281218	hsa-miR-1260	CLIP-seq
MIRT2281219	hsa-miR-1260b	CLIP-seq
MIRT2281220	hsa-miR-1265	CLIP-seq
MIRT2281221	hsa-miR-1267	CLIP-seq
MIRT2281222	hsa-miR-1270	CLIP-seq
MIRT2281223	hsa-miR-1273e	CLIP-seq
MIRT2052003	hsa-miR-127-5p	CLIP-seq
MIRT2281224	hsa-miR-1280	CLIP-seq
MIRT1179822	hsa-miR-1294	CLIP-seq
MIRT2281225	hsa-miR-1298	CLIP-seq
MIRT2281226	hsa-miR-1323	CLIP-seq
MIRT2281227	hsa-miR-1324	CLIP-seq
MIRT2281228	hsa-miR-135a	CLIP-seq
MIRT2281229	hsa-miR-135b	CLIP-seq
MIRT2281230	hsa-miR-142-5p	CLIP-seq
MIRT2281231	hsa-miR-145	CLIP-seq
MIRT2281232	hsa-miR-1909	CLIP-seq
MIRT2281233	hsa-miR-191	CLIP-seq
MIRT2281234	hsa-miR-1910	CLIP-seq
MIRT2281235	hsa-miR-1911	CLIP-seq
MIRT2281236	hsa-miR-196a	CLIP-seq
MIRT2281237	hsa-miR-196b	CLIP-seq
MIRT2281238	hsa-miR-200b	CLIP-seq
MIRT2281239	hsa-miR-200c	CLIP-seq
MIRT2281240	hsa-miR-203	CLIP-seq
MIRT2281241	hsa-miR-205	CLIP-seq
MIRT2281242	hsa-miR-2052	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT2281243	hsa-miR-23a	CLIP-seq
MIRT2281244	hsa-miR-23b	CLIP-seq
MIRT2281245	hsa-miR-23c	CLIP-seq
MIRT1179824	hsa-miR-24	CLIP-seq
MIRT2281246	hsa-miR-25	CLIP-seq
MIRT2281247	hsa-miR-27a	CLIP-seq
MIRT2281248	hsa-miR-27b	CLIP-seq
MIRT2281249	hsa-miR-3065-3p	CLIP-seq
MIRT2281250	hsa-miR-3065-5p	CLIP-seq
MIRT2281251	hsa-miR-30a	CLIP-seq
MIRT2281252	hsa-miR-30b	CLIP-seq
MIRT2281253	hsa-miR-30c	CLIP-seq
MIRT2281254	hsa-miR-30d	CLIP-seq
MIRT2281255	hsa-miR-30e	CLIP-seq
MIRT2281256	hsa-miR-3120-3p	CLIP-seq
MIRT2281257	hsa-miR-3120-5p	CLIP-seq
MIRT2052004	hsa-miR-3137	CLIP-seq
MIRT2281258	hsa-miR-3140-5p	CLIP-seq
MIRT2281259	hsa-miR-3144-3p	CLIP-seq
MIRT2281260	hsa-miR-3150b-3p	CLIP-seq
MIRT2281261	hsa-miR-3161	CLIP-seq
MIRT2281262	hsa-miR-3173-3p	CLIP-seq
MIRT2281263	hsa-miR-3177-5p	CLIP-seq
MIRT2281264	hsa-miR-3185	CLIP-seq
MIRT2281265	hsa-miR-3194-5p	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT2281266	hsa-miR-32	CLIP-seq
MIRT1179812	hsa-miR-3202	CLIP-seq
MIRT1179862	hsa-miR-323-5p	CLIP-seq
MIRT1179863	hsa-miR-338-3p	CLIP-seq
MIRT2281267	hsa-miR-342-3p	CLIP-seq
MIRT2281268	hsa-miR-342-5p	CLIP-seq
MIRT2281269	hsa-miR-3591-5p	CLIP-seq
MIRT2281270	hsa-miR-3609	CLIP-seq
MIRT2281271	hsa-miR-3613-3p	CLIP-seq
MIRT2281272	hsa-miR-361-5p	CLIP-seq
MIRT1179864	hsa-miR-3622a-3p	CLIP-seq
MIRT1179865	hsa-miR-3622b-3p	CLIP-seq
MIRT2281273	hsa-miR-363	CLIP-seq
MIRT2281274	hsa-miR-3660	CLIP-seq
MIRT2281275	hsa-miR-3664-5p	CLIP-seq
MIRT2281276	hsa-miR-367	CLIP-seq
MIRT2281277	hsa-miR-3688-3p	CLIP-seq
MIRT2281278	hsa-miR-3692	CLIP-seq
MIRT2281279	hsa-miR-380	CLIP-seq
MIRT2281280	hsa-miR-3908	CLIP-seq
MIRT2281281	hsa-miR-3909	CLIP-seq
MIRT2281282	hsa-miR-3918	CLIP-seq
MIRT2281283	hsa-miR-3921	CLIP-seq
MIRT1179846	hsa-miR-3929	CLIP-seq
MIRT1179814	hsa-miR-3937	CLIP-seq
MIRT2281284	hsa-miR-3972	CLIP-seq
MIRT2281285	hsa-miR-409-3p	CLIP-seq
MIRT1179825	hsa-miR-4252	CLIP-seq
MIRT2281286	hsa-miR-4264	CLIP-seq
MIRT2281287	hsa-miR-4267	CLIP-seq
MIRT2281288	hsa-miR-4280	CLIP-seq
MIRT1179826	hsa-miR-4284	CLIP-seq
MIRT2281289	hsa-miR-4287	CLIP-seq
MIRT2281290	hsa-miR-429	CLIP-seq
MIRT1179827	hsa-miR-4293	CLIP-seq
MIRT2281291	hsa-miR-4303	CLIP-seq
MIRT1179828	hsa-miR-4316	CLIP-seq
MIRT2281292	hsa-miR-432	CLIP-seq
MIRT2281293	hsa-miR-4328	CLIP-seq
MIRT2281294	hsa-miR-4330	CLIP-seq
MIRT1179847	hsa-miR-4419b	CLIP-seq
MIRT2281295	hsa-miR-4428	CLIP-seq
MIRT2281296	hsa-miR-4432	CLIP-seq
MIRT1179872	hsa-miR-4433	CLIP-seq
MIRT1179873	hsa-miR-4435	CLIP-seq
MIRT2281297	hsa-miR-4436a	CLIP-seq
MIRT2281298	hsa-miR-4436b-3p	CLIP-seq
MIRT2281299	hsa-miR-4453	CLIP-seq
MIRT2281300	hsa-miR-4458	CLIP-seq
MIRT2281301	hsa-miR-4462	CLIP-seq
MIRT1179829	hsa-miR-4466	CLIP-seq
MIRT2281302	hsa-miR-4469	CLIP-seq
MIRT2281303	hsa-miR-4474-5p	CLIP-seq
MIRT1179815	hsa-miR-4476	CLIP-seq
MIRT1179848	hsa-miR-4478	CLIP-seq
MIRT2281304	hsa-miR-4500	CLIP-seq
MIRT1179875	hsa-miR-4514	CLIP-seq
MIRT2281305	hsa-miR-4519	CLIP-seq
MIRT2281306	hsa-miR-451b	CLIP-seq
MIRT2281307	hsa-miR-4522	CLIP-seq
MIRT2281308	hsa-miR-4526	CLIP-seq
MIRT2281309	hsa-miR-4530	CLIP-seq
MIRT2281310	hsa-miR-4531	CLIP-seq
MIRT1179849	hsa-miR-4533	CLIP-seq
MIRT2281311	hsa-miR-4535	CLIP-seq
MIRT2281312	hsa-miR-4538	CLIP-seq
MIRT2281313	hsa-miR-455-3p	CLIP-seq
MIRT2052009	hsa-miR-4635	CLIP-seq
MIRT2281314	hsa-miR-4640-5p	CLIP-seq
MIRT2281315	hsa-miR-4643	CLIP-seq
MIRT1179851	hsa-miR-4649-3p	CLIP-seq
MIRT2281316	hsa-miR-4653-5p	CLIP-seq
MIRT2052010	hsa-miR-466	CLIP-seq
MIRT1179876	hsa-miR-4662a-5p	CLIP-seq
MIRT2281317	hsa-miR-4664-5p	CLIP-seq
MIRT1179878	hsa-miR-4676-5p	CLIP-seq
MIRT1179830	hsa-miR-4677-3p	CLIP-seq
MIRT1179816	hsa-miR-4682	CLIP-seq
MIRT2281318	hsa-miR-4684-5p	CLIP-seq
MIRT2281319	hsa-miR-4685-3p	CLIP-seq
MIRT2281320	hsa-miR-4685-5p	CLIP-seq
MIRT1179817	hsa-miR-4690-5p	CLIP-seq
MIRT1179879	hsa-miR-4692	CLIP-seq
MIRT2281321	hsa-miR-4696	CLIP-seq
MIRT2281322	hsa-miR-4700-3p	CLIP-seq
MIRT2281323	hsa-miR-4703-3p	CLIP-seq
MIRT2281324	hsa-miR-4709-3p	CLIP-seq
MIRT2281325	hsa-miR-4716-5p	CLIP-seq
MIRT2281326	hsa-miR-4717-3p	CLIP-seq
MIRT2281327	hsa-miR-4719	CLIP-seq
MIRT2281328	hsa-miR-4726-5p	CLIP-seq
MIRT2281329	hsa-miR-4727-5p	CLIP-seq
MIRT1179831	hsa-miR-4746-3p	CLIP-seq
MIRT2281330	hsa-miR-4751	CLIP-seq
MIRT1179881	hsa-miR-4755-3p	CLIP-seq
MIRT2281331	hsa-miR-4762-3p	CLIP-seq
MIRT2281332	hsa-miR-4763-3p	CLIP-seq
MIRT1179883	hsa-miR-4768-3p	CLIP-seq
MIRT2281333	hsa-miR-4768-5p	CLIP-seq
MIRT2281334	hsa-miR-4769-3p	CLIP-seq
MIRT2281335	hsa-miR-4774-5p	CLIP-seq
MIRT2281336	hsa-miR-4776-5p	CLIP-seq
MIRT2281337	hsa-miR-4784	CLIP-seq
MIRT2281338	hsa-miR-4785	CLIP-seq
MIRT2281339	hsa-miR-4789-3p	CLIP-seq
MIRT2052011	hsa-miR-4789-5p	CLIP-seq
MIRT1179832	hsa-miR-4793-3p	CLIP-seq
MIRT1179833	hsa-miR-4797-5p	CLIP-seq
MIRT2281340	hsa-miR-489	CLIP-seq
MIRT2281341	hsa-miR-492	CLIP-seq
MIRT2281342	hsa-miR-496	CLIP-seq
MIRT1179834	hsa-miR-508-5p	CLIP-seq
MIRT2281343	hsa-miR-513b	CLIP-seq
MIRT2281344	hsa-miR-532-3p	CLIP-seq
MIRT1179886	hsa-miR-541	CLIP-seq
MIRT1179887	hsa-miR-544b	CLIP-seq
MIRT2281345	hsa-miR-548a-3p	CLIP-seq
MIRT2281346	hsa-miR-548a-5p	CLIP-seq
MIRT1179888	hsa-miR-548aa	CLIP-seq
MIRT2281347	hsa-miR-548ab	CLIP-seq
MIRT1179889	hsa-miR-548ac	CLIP-seq
MIRT2281348	hsa-miR-548ae	CLIP-seq
MIRT2281349	hsa-miR-548ah	CLIP-seq
MIRT2281350	hsa-miR-548aj	CLIP-seq
MIRT2281351	hsa-miR-548ak	CLIP-seq
MIRT2281352	hsa-miR-548al	CLIP-seq
MIRT2281353	hsa-miR-548am	CLIP-seq
MIRT2281354	hsa-miR-548b-5p	CLIP-seq
MIRT1179890	hsa-miR-548c-3p	CLIP-seq
MIRT2281355	hsa-miR-548c-5p	CLIP-seq
MIRT1179891	hsa-miR-548d-3p	CLIP-seq
MIRT2281356	hsa-miR-548d-5p	CLIP-seq
MIRT2281357	hsa-miR-548e	CLIP-seq
MIRT2281358	hsa-miR-548f	CLIP-seq
MIRT2281359	hsa-miR-548h	CLIP-seq
MIRT2281360	hsa-miR-548i	CLIP-seq
MIRT2281361	hsa-miR-548j	CLIP-seq
MIRT2281362	hsa-miR-548n	CLIP-seq
MIRT2281363	hsa-miR-548o	CLIP-seq
MIRT1179835	hsa-miR-548v	CLIP-seq
MIRT2281364	hsa-miR-548w	CLIP-seq
MIRT2281365	hsa-miR-548x	CLIP-seq
MIRT2281366	hsa-miR-548y	CLIP-seq
MIRT1179892	hsa-miR-548z	CLIP-seq
MIRT1179893	hsa-miR-550a	CLIP-seq
MIRT2281367	hsa-miR-555	CLIP-seq
MIRT2281368	hsa-miR-559	CLIP-seq
MIRT2281369	hsa-miR-570	CLIP-seq
MIRT1179894	hsa-miR-575	CLIP-seq
MIRT2281370	hsa-miR-582-3p	CLIP-seq
MIRT2281371	hsa-miR-593	CLIP-seq
MIRT2281372	hsa-miR-600	CLIP-seq
MIRT1179836	hsa-miR-610	CLIP-seq
MIRT2052012	hsa-miR-616	CLIP-seq
MIRT2281373	hsa-miR-620	CLIP-seq
MIRT2281374	hsa-miR-634	CLIP-seq
MIRT2281375	hsa-miR-642a	CLIP-seq
MIRT1179896	hsa-miR-654-5p	CLIP-seq
MIRT2281376	hsa-miR-668	CLIP-seq
MIRT1179837	hsa-miR-675	CLIP-seq
MIRT2281377	hsa-miR-759	CLIP-seq
MIRT2281378	hsa-miR-764	CLIP-seq
MIRT2281379	hsa-miR-765	CLIP-seq
MIRT1179838	hsa-miR-766	CLIP-seq
MIRT1179819	hsa-miR-873	CLIP-seq
MIRT2281380	hsa-miR-875-5p	CLIP-seq
MIRT1179898	hsa-miR-876-3p	CLIP-seq
MIRT2281381	hsa-miR-92a	CLIP-seq
MIRT2281382	hsa-miR-92b	CLIP-seq
MIRT1179821	hsa-miR-935	CLIP-seq
MIRT2281383	hsa-miR-98	CLIP-seq
MIRT2281258	hsa-miR-3140-5p	CLIP-seq
MIRT2052001	hsa-miR-1208	CLIP-seq
MIRT2281220	hsa-miR-1265	CLIP-seq
MIRT1179822	hsa-miR-1294	CLIP-seq
MIRT2281240	hsa-miR-203	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT1179824	hsa-miR-24	CLIP-seq
MIRT1179856	hsa-miR-2682	CLIP-seq
MIRT2281258	hsa-miR-3140-5p	CLIP-seq
MIRT2281263	hsa-miR-3177-5p	CLIP-seq
MIRT2281269	hsa-miR-3591-5p	CLIP-seq
MIRT2281272	hsa-miR-361-5p	CLIP-seq
MIRT2281279	hsa-miR-380	CLIP-seq
MIRT1179871	hsa-miR-4269	CLIP-seq
MIRT2281288	hsa-miR-4280	CLIP-seq
MIRT1179826	hsa-miR-4284	CLIP-seq
MIRT1179828	hsa-miR-4316	CLIP-seq
MIRT1179829	hsa-miR-4466	CLIP-seq
MIRT1179874	hsa-miR-449c	CLIP-seq
MIRT1179875	hsa-miR-4514	CLIP-seq
MIRT2281315	hsa-miR-4643	CLIP-seq
MIRT2052010	hsa-miR-466	CLIP-seq
MIRT1179830	hsa-miR-4677-3p	CLIP-seq
MIRT1179879	hsa-miR-4692	CLIP-seq
MIRT1179880	hsa-miR-4742-5p	CLIP-seq
MIRT1179831	hsa-miR-4746-3p	CLIP-seq
MIRT2281339	hsa-miR-4789-3p	CLIP-seq
MIRT1179885	hsa-miR-510	CLIP-seq
MIRT1179895	hsa-miR-602	CLIP-seq
MIRT2281376	hsa-miR-668	CLIP-seq
MIRT1179837	hsa-miR-675	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT2579565	hsa-miR-1184	CLIP-seq
MIRT2579566	hsa-miR-1205	CLIP-seq
MIRT2281234	hsa-miR-1910	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT2281257	hsa-miR-3120-5p	CLIP-seq
MIRT1179860	hsa-miR-3158-5p	CLIP-seq
MIRT2579567	hsa-miR-3166	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT1179812	hsa-miR-3202	CLIP-seq
MIRT1179862	hsa-miR-323-5p	CLIP-seq
MIRT1179863	hsa-miR-338-3p	CLIP-seq
MIRT2281275	hsa-miR-3664-5p	CLIP-seq
MIRT2579568	hsa-miR-3665	CLIP-seq
MIRT2579569	hsa-miR-3675-3p	CLIP-seq
MIRT2281281	hsa-miR-3909	CLIP-seq
MIRT1179846	hsa-miR-3929	CLIP-seq
MIRT2579570	hsa-miR-3944-5p	CLIP-seq
MIRT2281286	hsa-miR-4264	CLIP-seq
MIRT2281294	hsa-miR-4330	CLIP-seq
MIRT1179847	hsa-miR-4419b	CLIP-seq
MIRT2281296	hsa-miR-4432	CLIP-seq
MIRT1179873	hsa-miR-4435	CLIP-seq
MIRT1179848	hsa-miR-4478	CLIP-seq
MIRT2281306	hsa-miR-451b	CLIP-seq
MIRT2281307	hsa-miR-4522	CLIP-seq
MIRT1179849	hsa-miR-4533	CLIP-seq
MIRT2281313	hsa-miR-455-3p	CLIP-seq
MIRT1179851	hsa-miR-4649-3p	CLIP-seq
MIRT1179876	hsa-miR-4662a-5p	CLIP-seq
MIRT1179878	hsa-miR-4676-5p	CLIP-seq
MIRT2281318	hsa-miR-4684-5p	CLIP-seq
MIRT2281321	hsa-miR-4696	CLIP-seq
MIRT1179881	hsa-miR-4755-3p	CLIP-seq
MIRT2579571	hsa-miR-4771	CLIP-seq
MIRT1179833	hsa-miR-4797-5p	CLIP-seq
MIRT1179886	hsa-miR-541	CLIP-seq
MIRT1179890	hsa-miR-548c-3p	CLIP-seq
MIRT2579572	hsa-miR-548g	CLIP-seq
MIRT1179893	hsa-miR-550a	CLIP-seq
MIRT1179894	hsa-miR-575	CLIP-seq
MIRT2579573	hsa-miR-584	CLIP-seq
MIRT1179896	hsa-miR-654-5p	CLIP-seq
MIRT2579574	hsa-miR-657	CLIP-seq
MIRT1179898	hsa-miR-876-3p	CLIP-seq
MIRT2281234	hsa-miR-1910	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT1179812	hsa-miR-3202	CLIP-seq
MIRT1179862	hsa-miR-323-5p	CLIP-seq
MIRT2579568	hsa-miR-3665	CLIP-seq
MIRT2579569	hsa-miR-3675-3p	CLIP-seq
MIRT2281281	hsa-miR-3909	CLIP-seq
MIRT1179846	hsa-miR-3929	CLIP-seq
MIRT2579570	hsa-miR-3944-5p	CLIP-seq
MIRT2281286	hsa-miR-4264	CLIP-seq
MIRT1179847	hsa-miR-4419b	CLIP-seq
MIRT1179848	hsa-miR-4478	CLIP-seq
MIRT1179849	hsa-miR-4533	CLIP-seq
MIRT2281313	hsa-miR-455-3p	CLIP-seq
MIRT1179851	hsa-miR-4649-3p	CLIP-seq
MIRT1179876	hsa-miR-4662a-5p	CLIP-seq
MIRT1179878	hsa-miR-4676-5p	CLIP-seq
MIRT2281318	hsa-miR-4684-5p	CLIP-seq
MIRT1179881	hsa-miR-4755-3p	CLIP-seq
MIRT1179833	hsa-miR-4797-5p	CLIP-seq
MIRT1179886	hsa-miR-541	CLIP-seq
MIRT1179890	hsa-miR-548c-3p	CLIP-seq
MIRT2579572	hsa-miR-548g	CLIP-seq
MIRT1179894	hsa-miR-575	CLIP-seq
MIRT1179896	hsa-miR-654-5p	CLIP-seq
MIRT2579574	hsa-miR-657	CLIP-seq
MIRT1179898	hsa-miR-876-3p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SUPT3H	Activation	8649367

Show/Hide all (58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003254	Process	Regulation of membrane depolarization	IDA	15217910
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	NAS	11244092
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS
GO:0005515	Function	Protein binding	IPI	11244092, 15677482, 18577513, 19664597, 19706893, 20086093, 20936779, 22024150, 22921829, 23236378, 23529131, 23686771, 23873930, 25416956, 26854353, 27445338, 28514442, 31980649, 32296183, 33961781, 34927784, 35271311, 36931259, 38270169
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005771	Component	Multivesicular body	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	22879586
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	17502380, 21463633
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006513	Process	Protein monoubiquitination	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007528	Process	Neuromuscular junction development	IBA
GO:0016324	Component	Apical plasma membrane	IDA	18174164
GO:0016567	Process	Protein ubiquitination	IDA	15217910, 17289006, 18577513, 25631046
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	27445338
GO:0016740	Function	Transferase activity	IEA
GO:0017080	Function	Sodium channel regulator activity	IDA	11244092
GO:0019870	Function	Potassium channel inhibitor activity	IDA	17289006, 21463633
GO:0019871	Function	Sodium channel inhibitor activity	IBA
GO:0019871	Function	Sodium channel inhibitor activity	IDA	15217910
GO:0019871	Function	Sodium channel inhibitor activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031175	Process	Neuron projection development	IBA
GO:0031623	Process	Receptor internalization	IBA
GO:0031647	Process	Regulation of protein stability	IMP	27445338
GO:0032801	Process	Receptor catabolic process	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0042391	Process	Regulation of membrane potential	IDA	17289006
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	21463633
GO:0044325	Function	Transmembrane transporter binding	IPI	15217910, 17289006, 21463633
GO:0045732	Process	Positive regulation of protein catabolic process	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IBA
GO:0050807	Process	Regulation of synapse organization	IBA
GO:0060306	Process	Regulation of membrane repolarization	IDA	21463633
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	17502380
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	21463633
GO:0086005	Process	Ventricular cardiac muscle cell action potential	ISS	22879586
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	17502380, 32729833
GO:1901380	Process	Negative regulation of potassium ion transmembrane transport	IDA	21463633
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IDA	11244092
GO:1902306	Process	Negative regulation of sodium ion transmembrane transport	IDA	15217910
GO:1903765	Process	Negative regulation of potassium ion export across plasma membrane	IDA	17289006
GO:1903783	Process	Negative regulation of sodium ion import across plasma membrane	IDA	18174164
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003
GO:2000009	Process	Negative regulation of protein localization to cell surface	IDA	21463633
GO:2001288	Process	Positive regulation of caveolin-mediated endocytosis	ISS	22879586

MIM	HGNC	e!Ensembl
606384	7728	ENSG00000049759

Q96PU5

Protein name

E3 ubiquitin-protein ligase NEDD4-like (EC 2.3.2.26) (EC 2.3.2.36) (HECT-type E3 ubiquitin transferase NED4L) (NEDD4.2) (Nedd4-2)

Protein function

E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins and is thereby implicated in the regulation of various signaling pathways including autophagy, innate immunity or DNA repair (Pub

PDB

2LAJ , 2LB2 , 2LTY , 2MPT , 2NSQ , 2ONI , 3JVZ , 3JW0 , 5HPK , 6ZBT , 6ZC9 , 7LP1 , 7LP2 , 7LP3 , 7LP4 , 7LP5 , 7NMZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	20 → 127	C2 domain	Domain
PF00397	WW	195 → 224	WW domain	Domain
PF00397	WW	387 → 416	WW domain	Domain
PF00397	WW	499 → 528	WW domain	Domain
PF00397	WW	550 → 579	WW domain	Domain
PF00632	HECT	669 → 974	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in prostate, pancreas, and kidney (PubMed:14615060, PubMed:15496141, PubMed:19664597). Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:14615060, ECO:0000269|PubMed:15496141, E

Sequence

MATGLGEPVYGLSEDEGESRILRVKVVSGIDLAKKDIFGASDPYVKLSLYVADENRELAL
VQTKTIKKTLNPKWNEEFYFRVNPSNHRLLFEVFDENRLTRDDFLGQVDVPLSHLPTEDP
TMERPYTFKDFLLRPRSHKSRVKGFLRLKMAYMPKNGGQDEENSDQRDDMEHGWEVVDSN
DSASQHQEELPPPPLPPGWEEKVDNLGRTYYVNHNNRTTQWHRPSLMDVSSESDNNIRQI
NQEAAHRRFRSRRHISEDLEPEPSEGGDVPEPWETISEEVNIAGDSLGLALPPPPASPGS
RTSPQELSEELSRRLQITPDSNGEQFSSLIQREPSSRLRSCSVTDAVAEQGHLPPPSAPA
GRARSSTVTGGEEPTPSVAYVHTTPGLPSGWEERKDAKGRTYYVNHNNRTTTWTRPIMQL
AEDGASGSATNSNNHLIEPQIRRPRSLSSPTVTLSAPLEGAKDSPVRRAVKDTLSNPQSP
QPSPYNSPKPQHKVTQSFLPPGWEMRIAPNGRPFFIDHNTKTTTWEDPRLKFPVHMRSKT
SLNPNDLGPLPPGWEERIHLDGRTFYIDHNSKITQWEDPRLQNPAITGPAVPYSREFKQK
YDYFRKKLKKPADIPNRFEMKLHRNNIFEESYRRIMSVKRPDVLKARLWIEFESEKGLDY
GGVAREWFFLLSKEMFNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFTFIGRVAGLA
VFHGKLLDGFFIRPFYKMMLGKQITLNDMESVDSEYYNSLKWILENDPTELDLMFCIDEE
NFGQTYQVDLKPNGSEIMVTNENKREYIDLVIQWRFVNRVQKQMNAFLEGFTELLPIDLI
KIFDENELELLMCGLGDVDVNDWRQHSIYKNGYCPNHPVIQWFWKAVLLMDAEKRIRLLQ
FVTGTSRVPMNGFAELYGSNGPQLFTIEQWGSPEKLPRAHTCFNRLDLPPYETFEDLREK
LLMAVENAQGFEGVD

Sequence length

975

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis Endocytosis Tight junction Aldosterone-regulated sodium reabsorption		Budding and maturation of HIV virion Downregulation of SMAD2/3:SMAD4 transcriptional activity Stimuli-sensing channels Antigen processing: Ubiquitination & Proteasome degradation

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chromosome 5Q14.3 deletion syndrome, distal	Likely pathogenic; Pathogenic	rs879255597	RCV003493512	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2059194330	RCV001257766	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periventricular nodular heterotopia 7	Likely pathogenic; Pathogenic	rs2059723813, rs879255599, rs879255598, rs879255597, rs2516772394, rs2046707868, rs2059194330	RCV002245299 RCV000258910 RCV000258902 RCV000258896 RCV003990250 RCV001031004 RCV001072145 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay	Pathogenic; Likely pathogenic	rs879255599, rs879255598, rs879255597	RCV000239744 RCV000239730 RCV000239759	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (31)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APPENDICITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5Q DELETION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEDD4L-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIVENTRICULAR HETEROTOPIA, X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIVENTRICULAR NODULAR HETEROTOPIA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (131)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22361880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	34319380	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	33414395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	11022011		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	25116239		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	25116239	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19156173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Periventricular Nodular Heterotopia	Periventricular heterotopia	CTD_human_DG	27694961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Periventricular Nodular Heterotopia	Periventricular heterotopia	BEFREE	30393983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29662198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29662198, 37005481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29998764, 39596003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23812770, 26581907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37580757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39596003	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28701297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21052022, 24284497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	24284497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	30393983	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clubfoot	Clubfoot	Pubtator	34087865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24312311	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	28515470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28296171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	30393983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34087865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31506348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23552671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	31729781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	19690890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	20003179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31775867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	21060895, 24373531, 27604420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	21060895, 24373531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	31320629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29998764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29998764	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	27604420, 28212375, 31320629, 31357244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	17331106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	LHGDN	17331106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	23934111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35593463	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	12522688, 16103266, 18268134, 18293164, 20003179, 24047422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	18293164, 20003179, 24047422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	21039987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	21039987	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31805126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31805126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31805126	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28515470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28296171		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Diseases	Hematologic disease	Pubtator	16788695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29530619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	30393983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	17487281, 17652939, 18293164, 20003179, 23549273, 24047422, 36039789	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	11473628, 14645220, 15140763, 15882550, 18268134, 18293164, 18691017, 19007435, 19635985, 20003179, 20090362, 23348737, 23549273, 24047422, 24491930 View all (4 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	12522688, 16103266, 18268134		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	18524855, 23348737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	36257596	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney disease	Pubtator	22688316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28862701, 31802037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle Syndrome	BEFREE	14645220, 16477034, 17605762, 18691017, 23348737, 25602517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle syndrome	Pubtator	17502380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29175326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	36257596	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26581907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29662198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29998764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	21039987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23812770, 26581907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31673244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24284497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29662198		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24456330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31320629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	24446284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24446284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASCAT_DG	23793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	GWASDB_DG	23793025		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	35236820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22462691, 24456330, 29175326, 30967264, 31673244		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHRONOPHTHISIS 2	Nephronophthisis	BEFREE	28978526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28515470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23812770, 30967264, 31618441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23549273, 28017963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23549273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	31618441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26130719	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28151476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	27694961, 30683929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	28017963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	27604420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Heterotopia, X-Linked	Periventricular Heterotopia, X-Linked	CTD_human_DG	27694961		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	27694961, 28515470, 30393983, 31028281		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	ORPHANET_DG	27694961		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	CTD_human_DG	27694961		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular nodular heterotopia	Periventricular Nodular Heterotopia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	30393983, 34087865	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIVENTRICULAR NODULAR HETEROTOPIA 7	Periventricular Nodular Heterotopia	GENOMICS_ENGLAND_DG	23934111, 27694961		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERIVENTRICULAR NODULAR HETEROTOPIA 7	Periventricular Nodular Heterotopia	UNIPROT_DG	27694961		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERIVENTRICULAR NODULAR HETEROTOPIA 7	Periventricular Nodular Heterotopia	BEFREE	30393983		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERIVENTRICULAR NODULAR HETEROTOPIA 7	Periventricular Nodular Heterotopia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33622336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	28515470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polysyndactyly	Polysyndactyly	CTD_human_DG	27694961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25171373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	36257596	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Reflex Epilepsy, Photosensitive	Retinitis Pigmentosa	BEFREE	17331106, 25542253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	22688316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	18033314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31673244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31673244	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CTD_human_DG	27694961		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	Pubtator	30393983	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly of the toes	Syndactyly Of The Toes	BEFREE	27694961, 30393983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29662198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	28515470, 31028281		★★★★★ ★☆☆☆☆ Found in Text Mining only

NEDD4L (NEDD4 like E3 ubiquitin protein ligase)