HCFC1 (host cell factor C1)

Gene

• Entrez ID: 3054
• Gene name: Host cell factor C1
• Gene symbol: HCFC1
• Synonyms (NCBI Gene): CFF, HCF, HCF-1, HCF1, HFC1, MAHCX, MRX3, PPP1R89, VCAF, XLID3
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleave

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199953428	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200053475	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs318240758	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs376049260	G>A	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397515485	G>A,C	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs397515486	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs397515487	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs797044886	C>T	Pathogenic	Missense variant, coding sequence variant
rs869312686	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs1064796833	CACCATGACTGGCGAGGAGGCCACCT>TG	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1131691718	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052040	hsa-let-7b-5p	CLASH	23622248
MIRT052040	hsa-let-7b-5p	CLASH	23622248
MIRT050444	hsa-miR-23a-3p	CLASH	23622248
MIRT049708	hsa-miR-92a-3p	CLASH	23622248
MIRT047097	hsa-miR-183-5p	CLASH	23622248
MIRT046582	hsa-miR-222-3p	CLASH	23622248
MIRT045650	hsa-miR-149-5p	CLASH	23622248
MIRT041883	hsa-miR-484	CLASH	23622248
MIRT041883	hsa-miR-484	CLASH	23622248
MIRT041503	hsa-miR-193b-3p	CLASH	23622248
MIRT041503	hsa-miR-193b-3p	CLASH	23622248
MIRT040355	hsa-miR-615-3p	CLASH	23622248
MIRT040355	hsa-miR-615-3p	CLASH	23622248
MIRT036089	hsa-miR-1296-5p	CLASH	23622248
MIRT563977	hsa-miR-6752-3p	PAR-CLIP	20371350
MIRT563976	hsa-miR-4722-3p	PAR-CLIP	20371350
MIRT563975	hsa-miR-6727-3p	PAR-CLIP	20371350
MIRT563974	hsa-miR-4480	PAR-CLIP	20371350
MIRT563973	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT563972	hsa-miR-4691-5p	PAR-CLIP	20371350
MIRT563971	hsa-miR-6792-3p	PAR-CLIP	20371350
MIRT489846	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT489845	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT489844	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT489842	hsa-miR-6820-5p	PAR-CLIP	23592263
MIRT489843	hsa-miR-4706	PAR-CLIP	23592263
MIRT489841	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT489840	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT489839	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT489838	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT489837	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT489836	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT489835	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT489834	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT489833	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT489832	hsa-miR-1228-5p	PAR-CLIP	23592263
MIRT563977	hsa-miR-6752-3p	PAR-CLIP	20371350
MIRT563976	hsa-miR-4722-3p	PAR-CLIP	20371350
MIRT563975	hsa-miR-6727-3p	PAR-CLIP	20371350
MIRT563974	hsa-miR-4480	PAR-CLIP	20371350
MIRT563973	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT563972	hsa-miR-4691-5p	PAR-CLIP	20371350
MIRT563971	hsa-miR-6792-3p	PAR-CLIP	20371350
MIRT489846	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT489845	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT489844	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT489842	hsa-miR-6820-5p	PAR-CLIP	23592263
MIRT489843	hsa-miR-4706	PAR-CLIP	23592263
MIRT489841	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT489840	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT489839	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT489838	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT489837	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT489836	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT489835	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT489834	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT489833	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT489832	hsa-miR-1228-5p	PAR-CLIP	23592263
MIRT1041820	hsa-miR-1197	CLIP-seq
MIRT1041821	hsa-miR-1204	CLIP-seq
MIRT1041822	hsa-miR-1283	CLIP-seq
MIRT1041823	hsa-miR-1291	CLIP-seq
MIRT1041824	hsa-miR-1293	CLIP-seq
MIRT1041825	hsa-miR-134	CLIP-seq
MIRT1041826	hsa-miR-136	CLIP-seq
MIRT1041827	hsa-miR-1587	CLIP-seq
MIRT1041828	hsa-miR-1972	CLIP-seq
MIRT1041829	hsa-miR-214	CLIP-seq
MIRT1041830	hsa-miR-22	CLIP-seq
MIRT1041831	hsa-miR-2467-3p	CLIP-seq
MIRT1041832	hsa-miR-3065-5p	CLIP-seq
MIRT1041833	hsa-miR-3118	CLIP-seq
MIRT1041834	hsa-miR-3147	CLIP-seq
MIRT1041835	hsa-miR-3154	CLIP-seq
MIRT1041836	hsa-miR-3175	CLIP-seq
MIRT1041837	hsa-miR-3202	CLIP-seq
MIRT1041838	hsa-miR-338-5p	CLIP-seq
MIRT1041839	hsa-miR-3606	CLIP-seq
MIRT1041840	hsa-miR-3613-3p	CLIP-seq
MIRT1041841	hsa-miR-3619-5p	CLIP-seq
MIRT1041842	hsa-miR-3647-5p	CLIP-seq
MIRT1041843	hsa-miR-3686	CLIP-seq
MIRT1041844	hsa-miR-3688-5p	CLIP-seq
MIRT1041845	hsa-miR-3915	CLIP-seq
MIRT1041846	hsa-miR-3925-3p	CLIP-seq
MIRT1041847	hsa-miR-3928	CLIP-seq
MIRT1041848	hsa-miR-3941	CLIP-seq
MIRT1041849	hsa-miR-4254	CLIP-seq
MIRT1041850	hsa-miR-4257	CLIP-seq
MIRT1041851	hsa-miR-4259	CLIP-seq
MIRT1041852	hsa-miR-4261	CLIP-seq
MIRT1041853	hsa-miR-4271	CLIP-seq
MIRT1041854	hsa-miR-4279	CLIP-seq
MIRT1041855	hsa-miR-4293	CLIP-seq
MIRT1041856	hsa-miR-4308	CLIP-seq
MIRT1041857	hsa-miR-4420	CLIP-seq
MIRT1041858	hsa-miR-4438	CLIP-seq
MIRT1041859	hsa-miR-4457	CLIP-seq
MIRT1041860	hsa-miR-4461	CLIP-seq
MIRT1041861	hsa-miR-4468	CLIP-seq
MIRT1041862	hsa-miR-4470	CLIP-seq
MIRT1041863	hsa-miR-4475	CLIP-seq
MIRT1041864	hsa-miR-4476	CLIP-seq
MIRT1041865	hsa-miR-4483	CLIP-seq
MIRT1041866	hsa-miR-4492	CLIP-seq
MIRT1041867	hsa-miR-4498	CLIP-seq
MIRT1041868	hsa-miR-4505	CLIP-seq
MIRT1041869	hsa-miR-4514	CLIP-seq
MIRT1041870	hsa-miR-4643	CLIP-seq
MIRT1041871	hsa-miR-4645-5p	CLIP-seq
MIRT1041872	hsa-miR-4655-3p	CLIP-seq
MIRT1041873	hsa-miR-4656	CLIP-seq
MIRT1041874	hsa-miR-466	CLIP-seq
MIRT1041875	hsa-miR-4670-3p	CLIP-seq
MIRT1041876	hsa-miR-4672	CLIP-seq
MIRT1041877	hsa-miR-4673	CLIP-seq
MIRT1041878	hsa-miR-4674	CLIP-seq
MIRT1041879	hsa-miR-4675	CLIP-seq
MIRT1041880	hsa-miR-4690-5p	CLIP-seq
MIRT1041881	hsa-miR-4692	CLIP-seq
MIRT1041882	hsa-miR-4700-3p	CLIP-seq
MIRT1041883	hsa-miR-4723-5p	CLIP-seq
MIRT1041884	hsa-miR-4725-3p	CLIP-seq
MIRT1041885	hsa-miR-4731-3p	CLIP-seq
MIRT1041886	hsa-miR-4741	CLIP-seq
MIRT1041887	hsa-miR-4749-3p	CLIP-seq
MIRT1041888	hsa-miR-4778-5p	CLIP-seq
MIRT1041889	hsa-miR-4789-3p	CLIP-seq
MIRT1041890	hsa-miR-4801	CLIP-seq
MIRT1041891	hsa-miR-495	CLIP-seq
MIRT1041892	hsa-miR-513a-5p	CLIP-seq
MIRT1041893	hsa-miR-515-5p	CLIP-seq
MIRT1041894	hsa-miR-541	CLIP-seq
MIRT1041895	hsa-miR-544b	CLIP-seq
MIRT1041896	hsa-miR-548ae	CLIP-seq
MIRT1041897	hsa-miR-548aj	CLIP-seq
MIRT1041898	hsa-miR-548am	CLIP-seq
MIRT1041899	hsa-miR-548x	CLIP-seq
MIRT1041900	hsa-miR-570	CLIP-seq
MIRT1041901	hsa-miR-587	CLIP-seq
MIRT1041902	hsa-miR-627	CLIP-seq
MIRT1041903	hsa-miR-761	CLIP-seq
MIRT1041904	hsa-miR-762	CLIP-seq
MIRT1041905	hsa-miR-765	CLIP-seq
MIRT1041906	hsa-miR-766	CLIP-seq
MIRT1041907	hsa-miR-875-3p	CLIP-seq
MIRT1041908	hsa-miR-887	CLIP-seq
MIRT1041909	hsa-miR-939	CLIP-seq
MIRT1556492	hsa-miR-4698	CLIP-seq
MIRT1556493	hsa-miR-548ad	CLIP-seq
MIRT1041821	hsa-miR-1204	CLIP-seq
MIRT2008762	hsa-miR-1207-5p	CLIP-seq
MIRT2008763	hsa-miR-1224-5p	CLIP-seq
MIRT2008764	hsa-miR-1234	CLIP-seq
MIRT2008765	hsa-miR-1237	CLIP-seq
MIRT2008766	hsa-miR-1238	CLIP-seq
MIRT2008767	hsa-miR-1248	CLIP-seq
MIRT1041822	hsa-miR-1283	CLIP-seq
MIRT1041824	hsa-miR-1293	CLIP-seq
MIRT1041826	hsa-miR-136	CLIP-seq
MIRT2008768	hsa-miR-138	CLIP-seq
MIRT1041827	hsa-miR-1587	CLIP-seq
MIRT2008769	hsa-miR-1909	CLIP-seq
MIRT2008770	hsa-miR-1914	CLIP-seq
MIRT1041828	hsa-miR-1972	CLIP-seq
MIRT1041829	hsa-miR-214	CLIP-seq
MIRT1041831	hsa-miR-2467-3p	CLIP-seq
MIRT2008771	hsa-miR-3064-5p	CLIP-seq
MIRT1041832	hsa-miR-3065-5p	CLIP-seq
MIRT2008772	hsa-miR-31	CLIP-seq
MIRT2008773	hsa-miR-3128	CLIP-seq
MIRT1041834	hsa-miR-3147	CLIP-seq
MIRT2008774	hsa-miR-3151	CLIP-seq
MIRT1041835	hsa-miR-3154	CLIP-seq
MIRT2008775	hsa-miR-3173-3p	CLIP-seq
MIRT1041837	hsa-miR-3202	CLIP-seq
MIRT1041838	hsa-miR-338-5p	CLIP-seq
MIRT2008776	hsa-miR-345	CLIP-seq
MIRT1041839	hsa-miR-3606	CLIP-seq
MIRT2008777	hsa-miR-3616-3p	CLIP-seq
MIRT1041841	hsa-miR-3619-5p	CLIP-seq
MIRT2008778	hsa-miR-3652	CLIP-seq
MIRT2008779	hsa-miR-3671	CLIP-seq
MIRT1041844	hsa-miR-3688-5p	CLIP-seq
MIRT2008780	hsa-miR-3692	CLIP-seq
MIRT2008781	hsa-miR-375	CLIP-seq
MIRT1041845	hsa-miR-3915	CLIP-seq
MIRT1041846	hsa-miR-3925-3p	CLIP-seq
MIRT1041847	hsa-miR-3928	CLIP-seq
MIRT2008782	hsa-miR-4256	CLIP-seq
MIRT1041851	hsa-miR-4259	CLIP-seq
MIRT2008783	hsa-miR-4268	CLIP-seq
MIRT1041853	hsa-miR-4271	CLIP-seq
MIRT1041854	hsa-miR-4279	CLIP-seq
MIRT2008784	hsa-miR-4290	CLIP-seq
MIRT1041855	hsa-miR-4293	CLIP-seq
MIRT2008785	hsa-miR-4317	CLIP-seq
MIRT2008786	hsa-miR-4417	CLIP-seq
MIRT1041857	hsa-miR-4420	CLIP-seq
MIRT2008787	hsa-miR-4430	CLIP-seq
MIRT2008788	hsa-miR-4436a	CLIP-seq
MIRT2008789	hsa-miR-4436b-3p	CLIP-seq
MIRT2008790	hsa-miR-4437	CLIP-seq
MIRT1041858	hsa-miR-4438	CLIP-seq
MIRT2008791	hsa-miR-4447	CLIP-seq
MIRT2008792	hsa-miR-4448	CLIP-seq
MIRT2008793	hsa-miR-4456	CLIP-seq
MIRT1041860	hsa-miR-4461	CLIP-seq
MIRT1041861	hsa-miR-4468	CLIP-seq
MIRT2008794	hsa-miR-4469	CLIP-seq
MIRT1041862	hsa-miR-4470	CLIP-seq
MIRT2008795	hsa-miR-4472	CLIP-seq
MIRT1041864	hsa-miR-4476	CLIP-seq
MIRT1041865	hsa-miR-4483	CLIP-seq
MIRT1041866	hsa-miR-4492	CLIP-seq
MIRT1041867	hsa-miR-4498	CLIP-seq
MIRT1041868	hsa-miR-4505	CLIP-seq
MIRT1041869	hsa-miR-4514	CLIP-seq
MIRT2008796	hsa-miR-4519	CLIP-seq
MIRT2008797	hsa-miR-4640-5p	CLIP-seq
MIRT1041871	hsa-miR-4645-5p	CLIP-seq
MIRT1041872	hsa-miR-4655-3p	CLIP-seq
MIRT1041873	hsa-miR-4656	CLIP-seq
MIRT1041875	hsa-miR-4670-3p	CLIP-seq
MIRT1041877	hsa-miR-4673	CLIP-seq
MIRT1041878	hsa-miR-4674	CLIP-seq
MIRT1041879	hsa-miR-4675	CLIP-seq
MIRT2008798	hsa-miR-4687-5p	CLIP-seq
MIRT1041880	hsa-miR-4690-5p	CLIP-seq
MIRT1041881	hsa-miR-4692	CLIP-seq
MIRT2008799	hsa-miR-4695-5p	CLIP-seq
MIRT1556492	hsa-miR-4698	CLIP-seq
MIRT1041883	hsa-miR-4723-5p	CLIP-seq
MIRT1041884	hsa-miR-4725-3p	CLIP-seq
MIRT2008800	hsa-miR-4726-5p	CLIP-seq
MIRT2008801	hsa-miR-4738-5p	CLIP-seq
MIRT1041886	hsa-miR-4741	CLIP-seq
MIRT2008802	hsa-miR-4742-5p	CLIP-seq
MIRT1041887	hsa-miR-4749-3p	CLIP-seq
MIRT2008803	hsa-miR-4751	CLIP-seq
MIRT2008804	hsa-miR-4755-3p	CLIP-seq
MIRT2008805	hsa-miR-4761-5p	CLIP-seq
MIRT2008806	hsa-miR-4762-5p	CLIP-seq
MIRT2008807	hsa-miR-4763-3p	CLIP-seq
MIRT2008808	hsa-miR-491-5p	CLIP-seq
MIRT2008809	hsa-miR-500a	CLIP-seq
MIRT1041892	hsa-miR-513a-5p	CLIP-seq
MIRT2008810	hsa-miR-516a-3p	CLIP-seq
MIRT1041894	hsa-miR-541	CLIP-seq
MIRT1041895	hsa-miR-544b	CLIP-seq
MIRT1556493	hsa-miR-548ad	CLIP-seq
MIRT2008811	hsa-miR-551a	CLIP-seq
MIRT2008812	hsa-miR-551b	CLIP-seq
MIRT1041900	hsa-miR-570	CLIP-seq
MIRT2008813	hsa-miR-607	CLIP-seq
MIRT2008814	hsa-miR-615-5p	CLIP-seq
MIRT1041902	hsa-miR-627	CLIP-seq
MIRT2008815	hsa-miR-645	CLIP-seq
MIRT2008816	hsa-miR-665	CLIP-seq
MIRT1041903	hsa-miR-761	CLIP-seq
MIRT1041904	hsa-miR-762	CLIP-seq
MIRT1041906	hsa-miR-766	CLIP-seq
MIRT2008817	hsa-miR-874	CLIP-seq
MIRT1041908	hsa-miR-887	CLIP-seq
MIRT1041909	hsa-miR-939	CLIP-seq
MIRT1041822	hsa-miR-1283	CLIP-seq
MIRT1041825	hsa-miR-134	CLIP-seq
MIRT1041826	hsa-miR-136	CLIP-seq
MIRT2008768	hsa-miR-138	CLIP-seq
MIRT2241204	hsa-miR-197	CLIP-seq
MIRT1041833	hsa-miR-3118	CLIP-seq
MIRT2241205	hsa-miR-3157-3p	CLIP-seq
MIRT1041838	hsa-miR-338-5p	CLIP-seq
MIRT1041839	hsa-miR-3606	CLIP-seq
MIRT1041843	hsa-miR-3686	CLIP-seq
MIRT2241206	hsa-miR-412	CLIP-seq
MIRT1041852	hsa-miR-4261	CLIP-seq
MIRT2008785	hsa-miR-4317	CLIP-seq
MIRT2008793	hsa-miR-4456	CLIP-seq
MIRT1041859	hsa-miR-4457	CLIP-seq
MIRT1041860	hsa-miR-4461	CLIP-seq
MIRT1041875	hsa-miR-4670-3p	CLIP-seq
MIRT1041876	hsa-miR-4672	CLIP-seq
MIRT2241207	hsa-miR-4714-3p	CLIP-seq
MIRT1041885	hsa-miR-4731-3p	CLIP-seq
MIRT1041888	hsa-miR-4778-5p	CLIP-seq
MIRT1041890	hsa-miR-4801	CLIP-seq
MIRT1041892	hsa-miR-513a-5p	CLIP-seq
MIRT2008810	hsa-miR-516a-3p	CLIP-seq
MIRT1041902	hsa-miR-627	CLIP-seq
MIRT2008817	hsa-miR-874	CLIP-seq
MIRT1041907	hsa-miR-875-3p	CLIP-seq
MIRT1041908	hsa-miR-887	CLIP-seq
MIRT1041876	hsa-miR-4672	CLIP-seq
MIRT2544770	hsa-miR-1275	CLIP-seq
MIRT1041826	hsa-miR-136	CLIP-seq
MIRT2544771	hsa-miR-146b-3p	CLIP-seq
MIRT2544772	hsa-miR-150	CLIP-seq
MIRT1041830	hsa-miR-22	CLIP-seq
MIRT2544773	hsa-miR-3117-5p	CLIP-seq
MIRT2544774	hsa-miR-3122	CLIP-seq
MIRT2544775	hsa-miR-3620	CLIP-seq
MIRT2544776	hsa-miR-3689a-3p	CLIP-seq
MIRT2544777	hsa-miR-3689c	CLIP-seq
MIRT2544778	hsa-miR-3689d	CLIP-seq
MIRT2008780	hsa-miR-3692	CLIP-seq
MIRT2544779	hsa-miR-369-3p	CLIP-seq
MIRT2544780	hsa-miR-374a	CLIP-seq
MIRT2544781	hsa-miR-374b	CLIP-seq
MIRT2544782	hsa-miR-3913-5p	CLIP-seq
MIRT2544783	hsa-miR-4260	CLIP-seq
MIRT2008796	hsa-miR-4519	CLIP-seq
MIRT2544784	hsa-miR-4525	CLIP-seq
MIRT2544785	hsa-miR-4530	CLIP-seq
MIRT2544786	hsa-miR-4665-5p	CLIP-seq
MIRT1041876	hsa-miR-4672	CLIP-seq
MIRT2544787	hsa-miR-4704-3p	CLIP-seq
MIRT1041883	hsa-miR-4723-5p	CLIP-seq
MIRT2544788	hsa-miR-4728-5p	CLIP-seq
MIRT2544789	hsa-miR-4746-3p	CLIP-seq
MIRT1041893	hsa-miR-515-5p	CLIP-seq
MIRT1041901	hsa-miR-587	CLIP-seq
MIRT2544790	hsa-miR-604	CLIP-seq
MIRT2544791	hsa-miR-625	CLIP-seq
MIRT2544792	hsa-miR-634	CLIP-seq
MIRT2544793	hsa-miR-647	CLIP-seq
MIRT2544770	hsa-miR-1275	CLIP-seq
MIRT1041826	hsa-miR-136	CLIP-seq
MIRT2544772	hsa-miR-150	CLIP-seq
MIRT1041830	hsa-miR-22	CLIP-seq
MIRT2544773	hsa-miR-3117-5p	CLIP-seq
MIRT2544775	hsa-miR-3620	CLIP-seq
MIRT2544778	hsa-miR-3689d	CLIP-seq
MIRT2544783	hsa-miR-4260	CLIP-seq
MIRT2544784	hsa-miR-4525	CLIP-seq
MIRT2544786	hsa-miR-4665-5p	CLIP-seq
MIRT1041876	hsa-miR-4672	CLIP-seq
MIRT2544787	hsa-miR-4704-3p	CLIP-seq
MIRT1041883	hsa-miR-4723-5p	CLIP-seq
MIRT1041893	hsa-miR-515-5p	CLIP-seq
MIRT1041901	hsa-miR-587	CLIP-seq
MIRT2544791	hsa-miR-625	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F4	Activation	14532282
YY1	Unknown	23000143

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000123	Component	Histone acetyltransferase complex	IDA	20018852
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0003682	Function	Chromatin binding	IDA	21285374
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IMP	10675337, 23629655
GO:0005515	Function	Protein binding	IPI	9271389, 10629049, 10675337, 10871379, 10976766, 12244100, 12670868, 14532282, 15705566, 15960975, 16624878, 17998332, 18391022, 18585351, 19188440, 19615732, 19815555, 20622854, 21285374, 21295698, 21909281, 23353889, 23629655, 23870121, 24211834, 24981860, 27705803, 28486698, 3229
GO:0005634	Component	Nucleus	IDA	7876203, 10623756, 19188440, 20091349, 21285374, 23629655
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	10623756, 20091349
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	12670868
GO:0010628	Process	Positive regulation of gene expression	IDA	21285374
GO:0016020	Component	Membrane	HDA	19946888
GO:0019046	Process	Release from viral latency	IEA
GO:0019046	Process	Release from viral latency	NAS	10675337
GO:0030674	Function	Protein-macromolecule adaptor activity	IPI	23629655
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0032991	Component	Protein-containing complex	IDA	23629655
GO:0035097	Component	Histone methyltransferase complex	IBA
GO:0042802	Function	Identical protein binding	IPI	12670868
GO:0043025	Component	Neuronal cell body	IDA	20091349
GO:0043254	Process	Regulation of protein-containing complex assembly	IDA	10675337
GO:0044545	Component	NSL complex	IDA	20018852
GO:0044665	Component	MLL1/2 complex	IPI	23508102
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045787	Process	Positive regulation of cell cycle	TAS	10623756
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	23629655
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	24842875
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20200153
GO:0048188	Component	Set1C/COMPASS complex	IDA	17998332, 18838538
GO:0048188	Component	Set1C/COMPASS complex	IEA
GO:0048188	Component	Set1C/COMPASS complex	IPI	23508102
GO:0050821	Process	Protein stabilization	IDA	21285374
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0071339	Component	MLL1 complex	IEA
GO:0071339	Component	MLL1 complex	IPI	23508102
GO:0140297	Function	DNA-binding transcription factor binding	IPI	9199328, 10976766

Other IDs

• MIM: 300019
• HGNC: 4839
• e!Ensembl: ENSG00000172534

Protein

• UniProt ID: P51610
• Protein name: Host cell factor 1 (HCF) (HCF-1) (C1 factor) (CFF) (VCAF) (VP16 accessory protein) [Cleaved into: HCF N-terminal chain 1; HCF N-terminal chain 2; HCF N-terminal chain 3; HCF N-terminal chain 4; HCF N-terminal chain 5; HCF N-terminal chain 6; HCF C-termina
• Protein function: Transcriptional coregulator (By similarity). Serves as a scaffold protein, bridging interactions between transcription factors, including THAP11 and ZNF143, and transcriptional coregulators (PubMed:26416877). Involved in control of the cell cycl
• PDB: 4GO6, 4N39, 4N3A, 4N3B, 4N3C, 5LWV, 6MA1, 6MA2, 6MA3, 6MA4, 6MA5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01344	Kelch_1	32 → 70	Kelch motif	Repeat
  PF13415	Kelch_3	264 → 330		Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in fetal tissues and the adult kidney. Present in all tissues tested. {ECO:0000269|PubMed:9389645}.
• Sequence:

  MASAVSPANLPAVLLQPRWKRVVGWSGPVPRPRHGHRAVAIKELIVVFGGGNEGIVDELH
  VYNTATNQWFIPAVRGDIPPGCAAYGFVCDGTRLLVFGGMVEYGKYSNDLYELQASRWEW
  KRLKAKTPKNGPPPCPRLGHSFSLVGNKCYLFGGLANDSEDPKNNIPRYLNDLYILELRP
  GSGVVAWDIPITYGVLPPPRESHTAVVYTEKDNKKSKLVIYGGMSGCRLGDLWTLDIDTL
  TWNKPSLSGVAPLPRSLHSATTIGNKMYVFGGWVPLVMDDVKVATHEKEWKCTNTLACLN
  LDTMAWETILMDTLEDNIPRARAGHCAVAINTRLYIWSGRDGYRKAWNNQVCCKDLWYLE
  TEKPPPPARVQLVRANTNSLEVSWGAVATADSYLLQLQKYDIPATAATATSPTPNPVPSV
  PANPPKSPAPAAAAPAVQPLTQVGITLLPQAAPAPPTTTTIQVLPTVPGSSISVPTAART
  QGVPAVLKVTGPQATTGTPLVTMRPASQAGKAPVTVTSLPAGVRMVVPTQSAQGTVIGSS
  PQMSGMAALAAAAAATQKIPPSSAPTVLSVPAGTTIVKTMAVTPGTTTLPATVKVASSPV
  MVSNPATRMLKTAAAQVGTSVSSATNTSTRPIITVHKSGTVTVAQQAQVVTTVVGGVTKT
  ITLVKSPISVPGGSALISNLGKVMSVVQTKPVQTSAVTGQASTGPVTQIIQTKGPLPAGT
  ILKLVTSADGKPTTIITTTQASGAGTKPTILGISSVSPSTTKPGTTTIIKTIPMSAIITQ
  AGATGVTSSPGIKSPITIITTKVMTSGTGAPAKIITAVPKIATGHGQQGVTQVVLKGAPG
  QPGTILRTVPMGGVRLVTPVTVSAVKPAVTTLVVKGTTGVTTLGTVTGTVSTSLAGAGGH
  STSASLATPITTLGTIATLSSQVINPTAITVSAAQTTLTAAGGLTTPTITMQPVSQPTQV
  TLITAPSGVEAQPVHDLPVSILASPTTEQPTATVTIADSGQGDVQPGTVTLVCSNPPCET
  HETGTTNTATTTVVANLGGHPQPTQVQFVCDRQEAAASLVTSTVGQQNGSVVRVCSNPPC
  ETHETGTTNTATTATSNMAGQHGCSNPPCETHETGTTNTATTAMSSVGANHQRDARRACA
  AGTPAVIRISVATGALEAAQGSKSQCQTRQTSATSTTMTVMATGAPCSAGPLLGPSMARE
  PGGRSPAFVQLAPLSSKVRLSSPSIKDLPAGRHSHAVSTAAMTRSSVGAGEPRMAPVCES
  LQGGSPSTTVTVTALEALLCPSATVTQVCSNPPCETHETGTTNTATTSNAGSAQRVCSNP
  PCETHETGTTHTATTATSNGGTGQPEGGQQPPAGRPCETHQTTSTGTTMSVSVGALLPDA
  TSSHRTVESGLEVAAAPSVTPQAGTALLAPFPTQRVCSNPPCETHETGTTHTATTVTSNM
  SSNQDPPPAASDQGEVESTQGDSVNITSSSAITTTVSSTLTRAVTTVTQSTPVPGPSVPP
  PEELQVSPGPRQQLPPRQLLQSASTALMGESAEVLSASQTPELPAAVDLSSTGEPSSGQE
  SAGSAVVATVVVQPPPPTQSEVDQLSLPQELMAEAQAGTTTLMVTGLTPEELAVTAAAEA
  AAQAAATEEAQALAIQAVLQAAQQAVMGTGEPMDTSEAAATVTQAELGHLSAEGQEGQAT
  TIPIVLTQQELAALVQQQQLQEAQAQQQHHHLPTEALAPADSLNDPAIESNCLNELAGTV
  PSTVALLPSTATESLAPSNTFVAPQPVVVASPAKLQAAATLTEVANGIESLGVKPDLPPP
  PSKAPMKKENQWFDVGVIKGTNVMVTHYFLPPDDAVPSDDDLGTVPDYNQLKKQELQPGT
  AYKFRVAGINACGRGPFSEISAFKTCLPGFPGAPCAIKISKSPDGAHLTWEPPSVTSGKI
  IEYSVYLAIQSSQAGGELKSSTPAQLAFMRVYCGPSPSCLVQSSSLSNAHIDYTTKPAII
  FRIAARNEKGYGPATQVRWLQETSKDSSGTKPANKRPMSSPEMKSAPKKSKADGQ

• Sequence length: 2035

Pathways

KEGG:

Polycomb repressive complex
Cobalamin transport and metabolism
Herpes simplex virus 1 infection

Reactome:

Transcriptional activation of mitochondrial biogenesis
HATs acetylate histones
UCH proteinases

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
Disorders of Intracellular Cobalamin Metabolism	Pathogenic	rs397515485, rs397515487	RCV002513743 RCV002513745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic acidemia with homocystinuria, type cblX	Pathogenic; Likely pathogenic	rs869312686, rs2521446197, rs398122908, rs318240758, rs397515485, rs397515487	RCV000209921 RCV003985697 RCV000032896 RCV000032897 RCV000057506 RCV000057508	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive disease	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cobalamin C disease	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HCFC1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KABUKI MAKE-UP SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki syndrome 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 3	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLX TYPE	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked intellectual disability	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	36574763	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	27009953	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	17154367	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	28394408		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27331873		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	27331873		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25167861		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25167861	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22371484		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22371484	Associate	★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	25281006, 25595573		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	28950427		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	28886090		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	20200153	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	28486698		★☆☆☆☆ Found in Text Mining only
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Pubtator	18520591	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	37264743	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37264743	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	25663381	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30559308, 31227231		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23593504		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	37264743	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23000143, 25740848, 31207118, 8826460, 9222958		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	23871722, 28584052	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
leukemia	Leukemia	LHGDN	17612494		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26345285	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31537905	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	19255062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	CTD_human_DG	19255062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22904263		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	19255062		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19255062		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29533017		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27331873		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22371484		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26537679	Associate	★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	18520591		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere disease	Pubtator	18520591	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	1605216, 31207118, 8826460, 9222958		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 3	Intellectual developmental disorder	Pubtator	37264743	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	1870093		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	1605216		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	23000143		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 3	Mental retardation	GENOMICS_ENGLAND_DG	23000143, 24011988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 3	Mental retardation	UNIPROT_DG	23000143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 3	Mental retardation	ORPHANET_DG	24011988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 3	Mental retardation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 3	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	31207118		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	37264743	Associate	★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	36207831	Associate	★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia	Pubtator	34655177	Associate	★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia with homocystinuria, type cblX	Methylmalonic Acidemia With Homocystinuria	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	24011988	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine without Aura	Migraine	Pubtator	37264743	Associate	★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	18520591		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29533017		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25740848		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29899098		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36553506	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25740848		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30559308		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30559308		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29533017		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28662995		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	17154367	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	BEFREE	25740848		★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations