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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10621
Gene name	RNA polymerase III subunit F
Gene symbol	POLR3F
Synonyms (NCBI Gene)	C34IMD101RPC39RPC6
Chromosome	20
Chromosome location	20p11.23
Summary	The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA po

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Show/Hide all (287)

miRTarBase ID	miRNA	Experiments	Reference
MIRT692252	hsa-miR-141-3p	HITS-CLIP	23313552
MIRT692251	hsa-miR-200a-3p	HITS-CLIP	23313552
MIRT692250	hsa-miR-3529-3p	HITS-CLIP	23313552
MIRT692249	hsa-miR-1183	HITS-CLIP	23313552
MIRT692248	hsa-miR-4699-3p	HITS-CLIP	23313552
MIRT692247	hsa-miR-6861-5p	HITS-CLIP	23313552
MIRT692246	hsa-miR-5189-3p	HITS-CLIP	23313552
MIRT645189	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT645188	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT692245	hsa-miR-555	HITS-CLIP	23313552
MIRT645222	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT645221	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT645220	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT645219	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT645218	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT645217	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT645216	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT645215	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT645214	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT645213	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT645212	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT645211	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT645210	hsa-miR-302e	HITS-CLIP	23824327
MIRT645209	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT645208	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT645207	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT645206	hsa-miR-520b	HITS-CLIP	23824327
MIRT645205	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT645204	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT645203	hsa-miR-520e	HITS-CLIP	23824327
MIRT645202	hsa-miR-4438	HITS-CLIP	23824327
MIRT645201	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT645200	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT645199	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT645198	hsa-miR-520h	HITS-CLIP	23824327
MIRT645197	hsa-miR-4308	HITS-CLIP	23824327
MIRT645196	hsa-miR-4292	HITS-CLIP	23824327
MIRT645195	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT645194	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT645193	hsa-miR-8073	HITS-CLIP	23824327
MIRT645192	hsa-miR-3128	HITS-CLIP	23824327
MIRT645191	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT645190	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT645189	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT645188	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT645187	hsa-miR-4470	HITS-CLIP	23824327
MIRT645186	hsa-miR-5095	HITS-CLIP	23824327
MIRT645185	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT645184	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT645183	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT645199	hsa-miR-520g-3p	PAR-CLIP	27292025
MIRT645198	hsa-miR-520h	PAR-CLIP	27292025
MIRT692252	hsa-miR-141-3p	HITS-CLIP	23313552
MIRT692251	hsa-miR-200a-3p	HITS-CLIP	23313552
MIRT692250	hsa-miR-3529-3p	HITS-CLIP	23313552
MIRT692249	hsa-miR-1183	HITS-CLIP	23313552
MIRT692248	hsa-miR-4699-3p	HITS-CLIP	23313552
MIRT692247	hsa-miR-6861-5p	HITS-CLIP	23313552
MIRT692246	hsa-miR-5189-3p	HITS-CLIP	23313552
MIRT645189	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT645188	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT692245	hsa-miR-555	HITS-CLIP	23313552
MIRT645222	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT645221	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT645220	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT645219	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT645218	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT645217	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT645216	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT645215	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT645214	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT645213	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT645212	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT645211	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT645210	hsa-miR-302e	HITS-CLIP	23824327
MIRT645209	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT645208	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT645207	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT645206	hsa-miR-520b	HITS-CLIP	23824327
MIRT645205	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT645204	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT645203	hsa-miR-520e	HITS-CLIP	23824327
MIRT645202	hsa-miR-4438	HITS-CLIP	23824327
MIRT645201	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT645200	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT645199	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT645198	hsa-miR-520h	HITS-CLIP	23824327
MIRT645197	hsa-miR-4308	HITS-CLIP	23824327
MIRT645196	hsa-miR-4292	HITS-CLIP	23824327
MIRT645195	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT645194	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT645193	hsa-miR-8073	HITS-CLIP	23824327
MIRT645192	hsa-miR-3128	HITS-CLIP	23824327
MIRT645191	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT645190	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT645189	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT645188	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT645187	hsa-miR-4470	HITS-CLIP	23824327
MIRT645186	hsa-miR-5095	HITS-CLIP	23824327
MIRT645185	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT645184	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT645183	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT1249247	hsa-miR-103b	CLIP-seq
MIRT1249248	hsa-miR-15a	CLIP-seq
MIRT1249249	hsa-miR-15b	CLIP-seq
MIRT1249250	hsa-miR-16	CLIP-seq
MIRT1249251	hsa-miR-195	CLIP-seq
MIRT1249252	hsa-miR-199a-3p	CLIP-seq
MIRT1249253	hsa-miR-199b-3p	CLIP-seq
MIRT1249254	hsa-miR-3129-5p	CLIP-seq
MIRT1249255	hsa-miR-3160-5p	CLIP-seq
MIRT1249256	hsa-miR-3611	CLIP-seq
MIRT1249257	hsa-miR-3616-5p	CLIP-seq
MIRT1249258	hsa-miR-3647-3p	CLIP-seq
MIRT1249259	hsa-miR-3647-5p	CLIP-seq
MIRT1249260	hsa-miR-376a	CLIP-seq
MIRT1249261	hsa-miR-376b	CLIP-seq
MIRT1249262	hsa-miR-3940-5p	CLIP-seq
MIRT1249263	hsa-miR-410	CLIP-seq
MIRT1249264	hsa-miR-424	CLIP-seq
MIRT1249265	hsa-miR-4307	CLIP-seq
MIRT1249266	hsa-miR-4507	CLIP-seq
MIRT1249267	hsa-miR-4524	CLIP-seq
MIRT1249268	hsa-miR-4645-3p	CLIP-seq
MIRT1249269	hsa-miR-4670-3p	CLIP-seq
MIRT1249270	hsa-miR-497	CLIP-seq
MIRT1249271	hsa-miR-503	CLIP-seq
MIRT1249272	hsa-miR-573	CLIP-seq
MIRT1249273	hsa-miR-616	CLIP-seq
MIRT1249274	hsa-miR-629	CLIP-seq
MIRT1249275	hsa-miR-646	CLIP-seq
MIRT1249276	hsa-miR-885-5p	CLIP-seq
MIRT2073623	hsa-miR-1224-3p	CLIP-seq
MIRT2073624	hsa-miR-181a	CLIP-seq
MIRT2073625	hsa-miR-181b	CLIP-seq
MIRT2073626	hsa-miR-181c	CLIP-seq
MIRT2073627	hsa-miR-181d	CLIP-seq
MIRT2073628	hsa-miR-186	CLIP-seq
MIRT2073629	hsa-miR-23a	CLIP-seq
MIRT2073630	hsa-miR-23b	CLIP-seq
MIRT2073631	hsa-miR-23c	CLIP-seq
MIRT1249255	hsa-miR-3160-5p	CLIP-seq
MIRT1249256	hsa-miR-3611	CLIP-seq
MIRT2073632	hsa-miR-3676	CLIP-seq
MIRT2073633	hsa-miR-4262	CLIP-seq
MIRT1249269	hsa-miR-4670-3p	CLIP-seq
MIRT2073634	hsa-miR-4758-3p	CLIP-seq
MIRT2073635	hsa-miR-495	CLIP-seq
MIRT2073636	hsa-miR-498	CLIP-seq
MIRT2073637	hsa-miR-543	CLIP-seq
MIRT2073638	hsa-miR-622	CLIP-seq
MIRT2073639	hsa-miR-934	CLIP-seq
MIRT1249247	hsa-miR-103b	CLIP-seq
MIRT2300601	hsa-miR-1278	CLIP-seq
MIRT1249248	hsa-miR-15a	CLIP-seq
MIRT1249249	hsa-miR-15b	CLIP-seq
MIRT1249250	hsa-miR-16	CLIP-seq
MIRT1249251	hsa-miR-195	CLIP-seq
MIRT1249252	hsa-miR-199a-3p	CLIP-seq
MIRT1249253	hsa-miR-199b-3p	CLIP-seq
MIRT1249254	hsa-miR-3129-5p	CLIP-seq
MIRT1249255	hsa-miR-3160-5p	CLIP-seq
MIRT1249256	hsa-miR-3611	CLIP-seq
MIRT2073632	hsa-miR-3676	CLIP-seq
MIRT1249260	hsa-miR-376a	CLIP-seq
MIRT1249261	hsa-miR-376b	CLIP-seq
MIRT1249264	hsa-miR-424	CLIP-seq
MIRT1249265	hsa-miR-4307	CLIP-seq
MIRT2300602	hsa-miR-4428	CLIP-seq
MIRT1249267	hsa-miR-4524	CLIP-seq
MIRT2300603	hsa-miR-4642	CLIP-seq
MIRT1249268	hsa-miR-4645-3p	CLIP-seq
MIRT1249269	hsa-miR-4670-3p	CLIP-seq
MIRT2300604	hsa-miR-4781-3p	CLIP-seq
MIRT2300605	hsa-miR-487a	CLIP-seq
MIRT1249270	hsa-miR-497	CLIP-seq
MIRT2073636	hsa-miR-498	CLIP-seq
MIRT2300606	hsa-miR-502-5p	CLIP-seq
MIRT1249271	hsa-miR-503	CLIP-seq
MIRT2300607	hsa-miR-567	CLIP-seq
MIRT1249273	hsa-miR-616	CLIP-seq
MIRT1249275	hsa-miR-646	CLIP-seq
MIRT1249276	hsa-miR-885-5p	CLIP-seq
MIRT2300608	hsa-miR-890	CLIP-seq
MIRT2456873	hsa-miR-1305	CLIP-seq
MIRT2456874	hsa-miR-4735-5p	CLIP-seq
MIRT2456875	hsa-miR-576-5p	CLIP-seq
MIRT2597418	hsa-miR-1252	CLIP-seq
MIRT2597419	hsa-miR-1264	CLIP-seq
MIRT2456873	hsa-miR-1305	CLIP-seq
MIRT2597420	hsa-miR-147b	CLIP-seq
MIRT1249252	hsa-miR-199a-3p	CLIP-seq
MIRT1249253	hsa-miR-199b-3p	CLIP-seq
MIRT2597421	hsa-miR-210	CLIP-seq
MIRT2597422	hsa-miR-216a	CLIP-seq
MIRT2597423	hsa-miR-216b	CLIP-seq
MIRT2597424	hsa-miR-3074-5p	CLIP-seq
MIRT2597425	hsa-miR-3127-3p	CLIP-seq
MIRT1249254	hsa-miR-3129-5p	CLIP-seq
MIRT1249255	hsa-miR-3160-5p	CLIP-seq
MIRT1249256	hsa-miR-3611	CLIP-seq
MIRT2597426	hsa-miR-361-3p	CLIP-seq
MIRT1249257	hsa-miR-3616-5p	CLIP-seq
MIRT1249258	hsa-miR-3647-3p	CLIP-seq
MIRT1249259	hsa-miR-3647-5p	CLIP-seq
MIRT2597427	hsa-miR-3653	CLIP-seq
MIRT2597428	hsa-miR-3658	CLIP-seq
MIRT2597429	hsa-miR-3662	CLIP-seq
MIRT2597430	hsa-miR-3910	CLIP-seq
MIRT2597431	hsa-miR-3924	CLIP-seq
MIRT1249262	hsa-miR-3940-5p	CLIP-seq
MIRT2597432	hsa-miR-4325	CLIP-seq
MIRT2300602	hsa-miR-4428	CLIP-seq
MIRT2597433	hsa-miR-4432	CLIP-seq
MIRT2597434	hsa-miR-4436b-5p	CLIP-seq
MIRT1249266	hsa-miR-4507	CLIP-seq
MIRT2597435	hsa-miR-4635	CLIP-seq
MIRT2597436	hsa-miR-4639-3p	CLIP-seq
MIRT1249268	hsa-miR-4645-3p	CLIP-seq
MIRT1249269	hsa-miR-4670-3p	CLIP-seq
MIRT2597437	hsa-miR-4722-3p	CLIP-seq
MIRT2597438	hsa-miR-4724-5p	CLIP-seq
MIRT2456874	hsa-miR-4735-5p	CLIP-seq
MIRT2597439	hsa-miR-4803	CLIP-seq
MIRT2597440	hsa-miR-488	CLIP-seq
MIRT2597441	hsa-miR-494	CLIP-seq
MIRT2073636	hsa-miR-498	CLIP-seq
MIRT2597442	hsa-miR-499-5p	CLIP-seq
MIRT2597443	hsa-miR-507	CLIP-seq
MIRT2597444	hsa-miR-520g	CLIP-seq
MIRT2597445	hsa-miR-548an	CLIP-seq
MIRT2597446	hsa-miR-557	CLIP-seq
MIRT1249272	hsa-miR-573	CLIP-seq
MIRT2456875	hsa-miR-576-5p	CLIP-seq
MIRT1249273	hsa-miR-616	CLIP-seq
MIRT1249274	hsa-miR-629	CLIP-seq
MIRT2597447	hsa-miR-889	CLIP-seq
MIRT2597418	hsa-miR-1252	CLIP-seq
MIRT2597419	hsa-miR-1264	CLIP-seq
MIRT2456873	hsa-miR-1305	CLIP-seq
MIRT2597420	hsa-miR-147b	CLIP-seq
MIRT1249252	hsa-miR-199a-3p	CLIP-seq
MIRT1249253	hsa-miR-199b-3p	CLIP-seq
MIRT2597421	hsa-miR-210	CLIP-seq
MIRT2597422	hsa-miR-216a	CLIP-seq
MIRT2597423	hsa-miR-216b	CLIP-seq
MIRT2597424	hsa-miR-3074-5p	CLIP-seq
MIRT2597425	hsa-miR-3127-3p	CLIP-seq
MIRT1249254	hsa-miR-3129-5p	CLIP-seq
MIRT1249255	hsa-miR-3160-5p	CLIP-seq
MIRT1249256	hsa-miR-3611	CLIP-seq
MIRT2597426	hsa-miR-361-3p	CLIP-seq
MIRT1249257	hsa-miR-3616-5p	CLIP-seq
MIRT1249258	hsa-miR-3647-3p	CLIP-seq
MIRT1249259	hsa-miR-3647-5p	CLIP-seq
MIRT2597427	hsa-miR-3653	CLIP-seq
MIRT2597428	hsa-miR-3658	CLIP-seq
MIRT2597429	hsa-miR-3662	CLIP-seq
MIRT2597430	hsa-miR-3910	CLIP-seq
MIRT2597431	hsa-miR-3924	CLIP-seq
MIRT1249262	hsa-miR-3940-5p	CLIP-seq
MIRT2597432	hsa-miR-4325	CLIP-seq
MIRT2300602	hsa-miR-4428	CLIP-seq
MIRT2597433	hsa-miR-4432	CLIP-seq
MIRT2597434	hsa-miR-4436b-5p	CLIP-seq
MIRT1249266	hsa-miR-4507	CLIP-seq
MIRT2597435	hsa-miR-4635	CLIP-seq
MIRT2597436	hsa-miR-4639-3p	CLIP-seq
MIRT1249268	hsa-miR-4645-3p	CLIP-seq
MIRT1249269	hsa-miR-4670-3p	CLIP-seq
MIRT2597437	hsa-miR-4722-3p	CLIP-seq
MIRT2597438	hsa-miR-4724-5p	CLIP-seq
MIRT2456874	hsa-miR-4735-5p	CLIP-seq
MIRT2597439	hsa-miR-4803	CLIP-seq
MIRT2597440	hsa-miR-488	CLIP-seq
MIRT2597441	hsa-miR-494	CLIP-seq
MIRT2073636	hsa-miR-498	CLIP-seq
MIRT2597442	hsa-miR-499-5p	CLIP-seq
MIRT2597443	hsa-miR-507	CLIP-seq
MIRT2597444	hsa-miR-520g	CLIP-seq
MIRT2597445	hsa-miR-548an	CLIP-seq
MIRT2597446	hsa-miR-557	CLIP-seq
MIRT1249272	hsa-miR-573	CLIP-seq
MIRT2456875	hsa-miR-576-5p	CLIP-seq
MIRT1249273	hsa-miR-616	CLIP-seq
MIRT1249274	hsa-miR-629	CLIP-seq
MIRT2597447	hsa-miR-889	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	21358628
GO:0003899	Function	DNA-directed RNA polymerase activity	NAS	9171375
GO:0005515	Function	Protein binding	IPI	11416169, 16169070, 17612402, 18377933, 20154270, 21358628, 28514442, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005666	Component	RNA polymerase III complex	IBA
GO:0005666	Component	RNA polymerase III complex	IDA	24107381, 33335104, 34675218
GO:0005666	Component	RNA polymerase III complex	IEA
GO:0005666	Component	RNA polymerase III complex	NAS	10623476
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006359	Process	Regulation of transcription by RNA polymerase III	NAS	9171375
GO:0006383	Process	Transcription by RNA polymerase III	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IMP	19631370
GO:0045087	Process	Innate immune response	IEA
GO:0045089	Process	Positive regulation of innate immune response	IMP	19631370
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IDA	34675218
GO:0051607	Process	Defense response to virus	IEA

MIM	HGNC	e!Ensembl
617455	15763	ENSG00000132664

Q9H1D9

Protein name

DNA-directed RNA polymerase III subunit RPC6 (RNA polymerase III subunit C6) (DNA-directed RNA polymerase III subunit F) (RNA polymerase III 39 kDa subunit) (RPC39)

Protein function

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:21358628, PubMed:33558764, PubMed:34675218). Specific peripheric component of RNA polymer

PDB

2DK5 , 2YU3 , 7A6H , 7AE1 , 7AE3 , 7AEA , 7AST , 7D58 , 7D59 , 7DN3 , 7DU2 , 7FJI , 7FJJ , 8ITY , 8IUE , 8IUH , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05158	RNA_pol_Rpc34	1 → 315	RNA polymerase Rpc34 subunit	Family

Sequence

MAEVKVKVQPPDADPVEIENRIIELCHQFPHGITDQVIQNEMPHIEAQQRAVAINRLLSM
GQLDLLRSNTGLLYRIKDSQNAGKMKGSDNQEKLVYQIIEDAGNKGIWSRDIRYKSNLPL
TEINKILKNLESKKLIKAVKSVAASKKKVYMLYNLQPDRSVTGGAWYSDQDFESEFVEVL
NQQCFKFLQSKAETARESKQNPMIQRNSSFASSHEVWKYICELGISKVELSMEDIETILN
TLIYDGKVEMTIIAAKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLCPVFDDCHEGG
EISPSNCIYMTEWLEF

Sequence length

316

Interactions

View interactions

	KEGG		Reactome
	RNA polymerase Cytosolic DNA-sensing pathway		Cytosolic sensors of pathogen-associated DNA RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 101 (varicella zoster virus-specific)	Pathogenic	rs11544222	RCV002248469	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 101	—	ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
von Willebrand Disease Type 2	Von willebrand disorder	Pubtator	32577795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

POLR3F (RNA polymerase III subunit F)