TSPAN6 (tetraspanin 6)

Gene

• Entrez ID: 7105
• Gene name: Tetraspanin 6
• Gene symbol: TSPAN6
• Synonyms (NCBI Gene): T245, TM4SF6, TSPAN-6
• Chromosome: X
• Chromosome location: Xq22.1
• Summary: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021536	hsa-miR-145-5p	Reporter assay;Microarray	21351259
MIRT021618	hsa-miR-142-3p	Microarray	17612493
MIRT021861	hsa-miR-132-3p	Microarray	17612493
MIRT021978	hsa-miR-128-3p	Microarray	17612493
MIRT022561	hsa-miR-124-3p	Microarray	18668037
MIRT042158	hsa-miR-484	CLASH	23622248
MIRT021536	hsa-miR-145-5p	Microarray, qRT-PCR	22815788
MIRT707810	hsa-miR-144-3p	HITS-CLIP	21572407
MIRT707809	hsa-miR-7849-3p	HITS-CLIP	21572407
MIRT707808	hsa-miR-16-1-3p	HITS-CLIP	21572407
MIRT707807	hsa-miR-4729	HITS-CLIP	21572407
MIRT707805	hsa-miR-496	HITS-CLIP	21572407
MIRT707806	hsa-miR-3682-5p	HITS-CLIP	21572407
MIRT707804	hsa-miR-5696	HITS-CLIP	21572407
MIRT707803	hsa-miR-579-3p	HITS-CLIP	21572407
MIRT707802	hsa-miR-664b-3p	HITS-CLIP	21572407
MIRT698008	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT698006	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT698005	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT698004	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT698003	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT698002	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT698001	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT698000	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT697999	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT697998	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT697997	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT697996	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT697995	hsa-miR-302e	HITS-CLIP	23313552
MIRT697994	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT697993	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT697992	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT697990	hsa-miR-520b	HITS-CLIP	23313552
MIRT697991	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT697989	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT697988	hsa-miR-520e	HITS-CLIP	23313552
MIRT697987	hsa-miR-6819-3p	HITS-CLIP	23313552
MIRT697986	hsa-miR-6877-3p	HITS-CLIP	23313552
MIRT697985	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT697983	hsa-miR-3973	HITS-CLIP	23313552
MIRT697984	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT697982	hsa-miR-520h	HITS-CLIP	23313552
MIRT697981	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT697980	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT697979	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT697978	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT697977	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT697975	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT697976	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT697974	hsa-miR-4707-3p	HITS-CLIP	23313552
MIRT697973	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT697972	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT697970	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT645623	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT645624	hsa-miR-3690	HITS-CLIP	23824327
MIRT645622	hsa-miR-4254	HITS-CLIP	23824327
MIRT645621	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT645620	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT645619	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT645618	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT645617	hsa-miR-301a-5p	HITS-CLIP	23824327
MIRT645616	hsa-miR-301b-5p	HITS-CLIP	23824327
MIRT645615	hsa-miR-345-5p	HITS-CLIP	23824327
MIRT645614	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT645613	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT645612	hsa-miR-4284	HITS-CLIP	23824327
MIRT645611	hsa-miR-3650	HITS-CLIP	23824327
MIRT645610	hsa-miR-7641	HITS-CLIP	23824327
MIRT645609	hsa-miR-3689d	HITS-CLIP	23824327
MIRT455775	hsa-miR-376c-3p	PAR-CLIP	23446348
MIRT455774	hsa-miR-4678	PAR-CLIP	23446348
MIRT455773	hsa-miR-4464	PAR-CLIP	23446348
MIRT455772	hsa-miR-4748	PAR-CLIP	23446348
MIRT455771	hsa-miR-298	PAR-CLIP	23446348
MIRT455770	hsa-miR-3665	PAR-CLIP	23446348
MIRT455769	hsa-miR-657	PAR-CLIP	23446348
MIRT455768	hsa-miR-5087	PAR-CLIP	23446348
MIRT455767	hsa-miR-3944-5p	PAR-CLIP	23446348
MIRT455766	hsa-miR-143-5p	PAR-CLIP	23446348
MIRT455765	hsa-miR-8068	PAR-CLIP	23446348
MIRT455764	hsa-miR-4666a-5p	PAR-CLIP	23446348
MIRT455763	hsa-miR-331-5p	PAR-CLIP	23446348
MIRT455775	hsa-miR-376c-3p	PAR-CLIP	23592263
MIRT455774	hsa-miR-4678	PAR-CLIP	23592263
MIRT455773	hsa-miR-4464	PAR-CLIP	23592263
MIRT455772	hsa-miR-4748	PAR-CLIP	23592263
MIRT455771	hsa-miR-298	PAR-CLIP	23592263
MIRT455770	hsa-miR-3665	PAR-CLIP	23592263
MIRT455769	hsa-miR-657	PAR-CLIP	23592263
MIRT455768	hsa-miR-5087	PAR-CLIP	23592263
MIRT455767	hsa-miR-3944-5p	PAR-CLIP	23592263
MIRT455766	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT455765	hsa-miR-8068	PAR-CLIP	23592263
MIRT455764	hsa-miR-4666a-5p	PAR-CLIP	23592263
MIRT455763	hsa-miR-331-5p	PAR-CLIP	23592263
MIRT707810	hsa-miR-144-3p	HITS-CLIP	21572407
MIRT707809	hsa-miR-7849-3p	HITS-CLIP	21572407
MIRT707808	hsa-miR-16-1-3p	HITS-CLIP	21572407
MIRT707807	hsa-miR-4729	HITS-CLIP	21572407
MIRT707805	hsa-miR-496	HITS-CLIP	21572407
MIRT707806	hsa-miR-3682-5p	HITS-CLIP	21572407
MIRT707804	hsa-miR-5696	HITS-CLIP	21572407
MIRT707803	hsa-miR-579-3p	HITS-CLIP	21572407
MIRT707802	hsa-miR-664b-3p	HITS-CLIP	21572407
MIRT698008	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT698006	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT698005	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT698004	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT698003	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT698002	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT698001	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT698000	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT697999	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT697998	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT697997	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT697996	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT697995	hsa-miR-302e	HITS-CLIP	23313552
MIRT697994	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT697993	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT697992	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT697990	hsa-miR-520b	HITS-CLIP	23313552
MIRT697991	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT697989	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT697988	hsa-miR-520e	HITS-CLIP	23313552
MIRT697987	hsa-miR-6819-3p	HITS-CLIP	23313552
MIRT697986	hsa-miR-6877-3p	HITS-CLIP	23313552
MIRT697985	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT697983	hsa-miR-3973	HITS-CLIP	23313552
MIRT697984	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT697982	hsa-miR-520h	HITS-CLIP	23313552
MIRT697981	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT697980	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT697979	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT697978	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT697977	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT697975	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT697976	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT697974	hsa-miR-4707-3p	HITS-CLIP	23313552
MIRT697973	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT697972	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT697970	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT645623	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT645624	hsa-miR-3690	HITS-CLIP	23824327
MIRT645622	hsa-miR-4254	HITS-CLIP	23824327
MIRT645621	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT645620	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT645619	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT645618	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT645617	hsa-miR-301a-5p	HITS-CLIP	23824327
MIRT645616	hsa-miR-301b-5p	HITS-CLIP	23824327
MIRT645615	hsa-miR-345-5p	HITS-CLIP	23824327
MIRT645614	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT645613	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT645612	hsa-miR-4284	HITS-CLIP	23824327
MIRT645611	hsa-miR-3650	HITS-CLIP	23824327
MIRT645610	hsa-miR-7641	HITS-CLIP	23824327
MIRT645609	hsa-miR-3689d	HITS-CLIP	23824327
MIRT455775	hsa-miR-376c-3p	PAR-CLIP	23446348
MIRT455774	hsa-miR-4678	PAR-CLIP	23446348
MIRT455773	hsa-miR-4464	PAR-CLIP	23446348
MIRT455772	hsa-miR-4748	PAR-CLIP	23446348
MIRT455771	hsa-miR-298	PAR-CLIP	23446348
MIRT455770	hsa-miR-3665	PAR-CLIP	23446348
MIRT455769	hsa-miR-657	PAR-CLIP	23446348
MIRT455768	hsa-miR-5087	PAR-CLIP	23446348
MIRT455767	hsa-miR-3944-5p	PAR-CLIP	23446348
MIRT455766	hsa-miR-143-5p	PAR-CLIP	23446348
MIRT455765	hsa-miR-8068	PAR-CLIP	23446348
MIRT455764	hsa-miR-4666a-5p	PAR-CLIP	23446348
MIRT455763	hsa-miR-331-5p	PAR-CLIP	23446348
MIRT455775	hsa-miR-376c-3p	PAR-CLIP	23592263
MIRT455774	hsa-miR-4678	PAR-CLIP	23592263
MIRT455773	hsa-miR-4464	PAR-CLIP	23592263
MIRT455772	hsa-miR-4748	PAR-CLIP	23592263
MIRT455771	hsa-miR-298	PAR-CLIP	23592263
MIRT455770	hsa-miR-3665	PAR-CLIP	23592263
MIRT455769	hsa-miR-657	PAR-CLIP	23592263
MIRT455768	hsa-miR-5087	PAR-CLIP	23592263
MIRT455767	hsa-miR-3944-5p	PAR-CLIP	23592263
MIRT455766	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT455765	hsa-miR-8068	PAR-CLIP	23592263
MIRT455764	hsa-miR-4666a-5p	PAR-CLIP	23592263
MIRT455763	hsa-miR-331-5p	PAR-CLIP	23592263
MIRT1459896	hsa-miR-1227	CLIP-seq
MIRT1459897	hsa-miR-1283	CLIP-seq
MIRT1459898	hsa-miR-132	CLIP-seq
MIRT1459899	hsa-miR-144	CLIP-seq
MIRT1459900	hsa-miR-145	CLIP-seq
MIRT1459901	hsa-miR-2114	CLIP-seq
MIRT1459902	hsa-miR-212	CLIP-seq
MIRT1459903	hsa-miR-3125	CLIP-seq
MIRT1459904	hsa-miR-3130-3p	CLIP-seq
MIRT1459905	hsa-miR-323-5p	CLIP-seq
MIRT1459906	hsa-miR-335	CLIP-seq
MIRT1459907	hsa-miR-338-3p	CLIP-seq
MIRT1459908	hsa-miR-3691-5p	CLIP-seq
MIRT1459909	hsa-miR-376c	CLIP-seq
MIRT1459910	hsa-miR-3916	CLIP-seq
MIRT1459911	hsa-miR-3928	CLIP-seq
MIRT1459912	hsa-miR-4440	CLIP-seq
MIRT1459913	hsa-miR-4530	CLIP-seq
MIRT1459914	hsa-miR-455-5p	CLIP-seq
MIRT1459915	hsa-miR-4659a-5p	CLIP-seq
MIRT1459916	hsa-miR-4659b-5p	CLIP-seq
MIRT1459917	hsa-miR-4666-5p	CLIP-seq
MIRT1459918	hsa-miR-4690-3p	CLIP-seq
MIRT1459919	hsa-miR-532-5p	CLIP-seq
MIRT1459920	hsa-miR-579	CLIP-seq
MIRT1459921	hsa-miR-876-3p	CLIP-seq
MIRT1459922	hsa-miR-922	CLIP-seq
MIRT1459896	hsa-miR-1227	CLIP-seq
MIRT1459900	hsa-miR-145	CLIP-seq
MIRT1459901	hsa-miR-2114	CLIP-seq
MIRT2138063	hsa-miR-27a	CLIP-seq
MIRT2138064	hsa-miR-27b	CLIP-seq
MIRT1459903	hsa-miR-3125	CLIP-seq
MIRT1459904	hsa-miR-3130-3p	CLIP-seq
MIRT2138065	hsa-miR-3144-5p	CLIP-seq
MIRT1459905	hsa-miR-323-5p	CLIP-seq
MIRT2138066	hsa-miR-3612	CLIP-seq
MIRT1459908	hsa-miR-3691-5p	CLIP-seq
MIRT1459909	hsa-miR-376c	CLIP-seq
MIRT1459910	hsa-miR-3916	CLIP-seq
MIRT1459912	hsa-miR-4440	CLIP-seq
MIRT2138067	hsa-miR-4443	CLIP-seq
MIRT1459914	hsa-miR-455-5p	CLIP-seq
MIRT1459915	hsa-miR-4659a-5p	CLIP-seq
MIRT1459916	hsa-miR-4659b-5p	CLIP-seq
MIRT1459917	hsa-miR-4666-5p	CLIP-seq
MIRT1459918	hsa-miR-4690-3p	CLIP-seq
MIRT2138068	hsa-miR-4735-5p	CLIP-seq
MIRT2138069	hsa-miR-4760-3p	CLIP-seq
MIRT2138070	hsa-miR-4790-3p	CLIP-seq
MIRT2138071	hsa-miR-499-3p	CLIP-seq
MIRT2138072	hsa-miR-499a-3p	CLIP-seq
MIRT2138073	hsa-miR-513a-5p	CLIP-seq
MIRT1459919	hsa-miR-532-5p	CLIP-seq
MIRT2138074	hsa-miR-548p	CLIP-seq
MIRT2138075	hsa-miR-650	CLIP-seq
MIRT1459921	hsa-miR-876-3p	CLIP-seq
MIRT1459922	hsa-miR-922	CLIP-seq
MIRT1459896	hsa-miR-1227	CLIP-seq
MIRT1459900	hsa-miR-145	CLIP-seq
MIRT1459901	hsa-miR-2114	CLIP-seq
MIRT1459904	hsa-miR-3130-3p	CLIP-seq
MIRT1459905	hsa-miR-323-5p	CLIP-seq
MIRT1459908	hsa-miR-3691-5p	CLIP-seq
MIRT1459909	hsa-miR-376c	CLIP-seq
MIRT1459912	hsa-miR-4440	CLIP-seq
MIRT1459914	hsa-miR-455-5p	CLIP-seq
MIRT1459915	hsa-miR-4659a-5p	CLIP-seq
MIRT1459916	hsa-miR-4659b-5p	CLIP-seq
MIRT2358984	hsa-miR-4661-5p	CLIP-seq
MIRT1459917	hsa-miR-4666-5p	CLIP-seq
MIRT1459919	hsa-miR-532-5p	CLIP-seq
MIRT1459921	hsa-miR-876-3p	CLIP-seq
MIRT1459900	hsa-miR-145	CLIP-seq
MIRT1459901	hsa-miR-2114	CLIP-seq
MIRT1459908	hsa-miR-3691-5p	CLIP-seq
MIRT1459912	hsa-miR-4440	CLIP-seq
MIRT1459919	hsa-miR-532-5p	CLIP-seq
MIRT2652211	hsa-miR-1208	CLIP-seq
MIRT1459900	hsa-miR-145	CLIP-seq
MIRT2652212	hsa-miR-199a-3p	CLIP-seq
MIRT2652213	hsa-miR-199b-3p	CLIP-seq
MIRT1459901	hsa-miR-2114	CLIP-seq
MIRT2652214	hsa-miR-3126-3p	CLIP-seq
MIRT2652215	hsa-miR-3126-5p	CLIP-seq
MIRT2652216	hsa-miR-3128	CLIP-seq
MIRT2652217	hsa-miR-3129-5p	CLIP-seq
MIRT2652218	hsa-miR-3171	CLIP-seq
MIRT2652219	hsa-miR-3684	CLIP-seq
MIRT1459908	hsa-miR-3691-5p	CLIP-seq
MIRT2652220	hsa-miR-4419a	CLIP-seq
MIRT1459912	hsa-miR-4440	CLIP-seq
MIRT2652221	hsa-miR-4502	CLIP-seq
MIRT2652222	hsa-miR-4510	CLIP-seq
MIRT2652223	hsa-miR-4720-5p	CLIP-seq
MIRT2652224	hsa-miR-4799-3p	CLIP-seq
MIRT1459919	hsa-miR-532-5p	CLIP-seq
MIRT2652225	hsa-miR-936	CLIP-seq
MIRT2652211	hsa-miR-1208	CLIP-seq
MIRT2694360	hsa-miR-1263	CLIP-seq
MIRT1459900	hsa-miR-145	CLIP-seq
MIRT2652212	hsa-miR-199a-3p	CLIP-seq
MIRT2652213	hsa-miR-199b-3p	CLIP-seq
MIRT1459901	hsa-miR-2114	CLIP-seq
MIRT2652214	hsa-miR-3126-3p	CLIP-seq
MIRT2652215	hsa-miR-3126-5p	CLIP-seq
MIRT2652216	hsa-miR-3128	CLIP-seq
MIRT2652217	hsa-miR-3129-5p	CLIP-seq
MIRT2652218	hsa-miR-3171	CLIP-seq
MIRT2652219	hsa-miR-3684	CLIP-seq
MIRT1459908	hsa-miR-3691-5p	CLIP-seq
MIRT2652220	hsa-miR-4419a	CLIP-seq
MIRT1459912	hsa-miR-4440	CLIP-seq
MIRT2652221	hsa-miR-4502	CLIP-seq
MIRT2652222	hsa-miR-4510	CLIP-seq
MIRT2694361	hsa-miR-4714-3p	CLIP-seq
MIRT2652223	hsa-miR-4720-5p	CLIP-seq
MIRT2652224	hsa-miR-4799-3p	CLIP-seq
MIRT2694362	hsa-miR-490-3p	CLIP-seq
MIRT2694363	hsa-miR-513a-3p	CLIP-seq
MIRT1459919	hsa-miR-532-5p	CLIP-seq
MIRT2694364	hsa-miR-634	CLIP-seq
MIRT2652225	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22908223
GO:0005886	Component	Plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0039532	Process	Negative regulation of cytoplasmic pattern recognition receptor signaling pathway	IMP	22908223
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	22908223
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145

Other IDs

• MIM: 300191
• HGNC: 11858
• e!Ensembl: ENSG00000000003

Protein

• UniProt ID: O43657
• Protein name: Tetraspanin-6 (Tspan-6) (A15 homolog) (Putative NF-kappa-B-activating protein 321) (T245 protein) (Tetraspanin TM4-D) (Transmembrane 4 superfamily member 6)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00335	Tetraspanin	17 → 236	Tetraspanin family	Family

• Sequence:

  MASPSRRLQTKPVITCFKSVLLIYTFIFWITGVILLAVGIWGKVSLENYFSLLNEKATNV
  PFVLIATGTVIILLGTFGCFATCRASAWMLKLYAMFLTLVFLVELVAAIVGFVFRHEIKN
  SFKNNYEKALKQYNSTGDYRSHAVDKIQNTLHCCGVTDYRDWTDTNYYSEKGFPKSCCKL
  EDCTPQRDADKVNNEGCFIKVMTIIESEMGVVAGISFGVACFQLIGIFLAYCLSRAITNN
  QYEIV

• Sequence length: 245

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	36867531	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26494939	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)	Epileptic Encephalopathy And Intellectual Disability	BEFREE	28207852		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	28279219		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39472973	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28207852		★☆☆☆☆ Found in Text Mining only