GTF2H3 (general transcription factor IIH subunit 3)

Gene

• Entrez ID: 2967
• Gene name: General transcription factor IIH subunit 3
• Gene symbol: GTF2H3
• Synonyms (NCBI Gene): BTF2, P34, TFB4, TFIIH
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision re

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028194	hsa-miR-33a-5p	Sequencing	20371350
MIRT042315	hsa-miR-484	CLASH	23622248
MIRT689818	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT689817	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT689816	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT689815	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT689814	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT689813	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT689812	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT689811	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT689810	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT689809	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT689808	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT689807	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT689806	hsa-miR-302e	HITS-CLIP	23313552
MIRT689805	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT689804	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT689803	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT689802	hsa-miR-520b	HITS-CLIP	23313552
MIRT689801	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT689800	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT689799	hsa-miR-520e	HITS-CLIP	23313552
MIRT689798	hsa-miR-4438	HITS-CLIP	23313552
MIRT689797	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT689796	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT689795	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT689794	hsa-miR-520h	HITS-CLIP	23313552
MIRT689793	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT689792	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT689791	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT689790	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT689789	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT689788	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT689787	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT689786	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT689785	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT689784	hsa-miR-5095	HITS-CLIP	23313552
MIRT689783	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT689782	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT689781	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT689780	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT617288	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617287	hsa-miR-4307	HITS-CLIP	23824327
MIRT617286	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617285	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT617284	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT617283	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617281	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT617280	hsa-miR-5096	HITS-CLIP	23824327
MIRT617288	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617287	hsa-miR-4307	HITS-CLIP	23824327
MIRT617286	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617285	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT617284	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT617283	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617281	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT617280	hsa-miR-5096	HITS-CLIP	23824327
MIRT617288	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617287	hsa-miR-4307	HITS-CLIP	23824327
MIRT617286	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617285	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT617284	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT617283	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617281	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT617280	hsa-miR-5096	HITS-CLIP	23824327
MIRT617288	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617287	hsa-miR-4307	HITS-CLIP	23824327
MIRT617286	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617285	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT617284	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT617283	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617281	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT617280	hsa-miR-5096	HITS-CLIP	23824327
MIRT617288	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617287	hsa-miR-4307	HITS-CLIP	23824327
MIRT617286	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617285	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT617284	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT617283	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617281	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT617280	hsa-miR-5096	HITS-CLIP	23824327
MIRT689818	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT689817	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT689816	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT689815	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT689814	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT689813	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT689812	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT689811	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT689810	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT689809	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT689808	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT689807	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT689806	hsa-miR-302e	HITS-CLIP	23313552
MIRT689805	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT689804	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT689803	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT689802	hsa-miR-520b	HITS-CLIP	23313552
MIRT689801	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT689800	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT689799	hsa-miR-520e	HITS-CLIP	23313552
MIRT689798	hsa-miR-4438	HITS-CLIP	23313552
MIRT689797	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT689796	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT689795	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT689794	hsa-miR-520h	HITS-CLIP	23313552
MIRT689793	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT689792	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT689791	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT689790	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT689789	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT689788	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT689787	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT689786	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT689785	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT689784	hsa-miR-5095	HITS-CLIP	23313552
MIRT689783	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT689782	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT689781	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT689780	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT617288	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617287	hsa-miR-4307	HITS-CLIP	23824327
MIRT617286	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617285	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT617284	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT617283	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617281	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT617280	hsa-miR-5096	HITS-CLIP	23824327
MIRT617288	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617287	hsa-miR-4307	HITS-CLIP	23824327
MIRT617286	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617285	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT617284	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT617283	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617281	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT617280	hsa-miR-5096	HITS-CLIP	23824327
MIRT617288	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617287	hsa-miR-4307	HITS-CLIP	23824327
MIRT617286	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617285	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT617284	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT617283	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617281	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT617280	hsa-miR-5096	HITS-CLIP	23824327
MIRT617288	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617287	hsa-miR-4307	HITS-CLIP	23824327
MIRT617286	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617285	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT617284	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT617283	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617281	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT617280	hsa-miR-5096	HITS-CLIP	23824327
MIRT617288	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617287	hsa-miR-4307	HITS-CLIP	23824327
MIRT617286	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617285	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT617284	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT617283	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT617282	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT617281	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT617280	hsa-miR-5096	HITS-CLIP	23824327
MIRT1037154	hsa-miR-1324	CLIP-seq
MIRT1037155	hsa-miR-2110	CLIP-seq
MIRT1037156	hsa-miR-2467-5p	CLIP-seq
MIRT1037157	hsa-miR-3074-3p	CLIP-seq
MIRT1037158	hsa-miR-3188	CLIP-seq
MIRT1037159	hsa-miR-3200-5p	CLIP-seq
MIRT1037160	hsa-miR-361-5p	CLIP-seq
MIRT1037161	hsa-miR-3975	CLIP-seq
MIRT1037162	hsa-miR-4271	CLIP-seq
MIRT1037163	hsa-miR-4426	CLIP-seq
MIRT1037164	hsa-miR-4647	CLIP-seq
MIRT1037165	hsa-miR-4649-3p	CLIP-seq
MIRT1037166	hsa-miR-4662b	CLIP-seq
MIRT1037167	hsa-miR-4668-5p	CLIP-seq
MIRT1037168	hsa-miR-4725-3p	CLIP-seq
MIRT1037169	hsa-miR-485-5p	CLIP-seq
MIRT1037170	hsa-miR-626	CLIP-seq
MIRT2007432	hsa-miR-155	CLIP-seq
MIRT2007433	hsa-miR-2276	CLIP-seq
MIRT2007434	hsa-miR-23a	CLIP-seq
MIRT2007435	hsa-miR-23b	CLIP-seq
MIRT2007436	hsa-miR-23c	CLIP-seq
MIRT2007437	hsa-miR-3145-5p	CLIP-seq
MIRT2007438	hsa-miR-365	CLIP-seq
MIRT2007439	hsa-miR-3974	CLIP-seq
MIRT2007440	hsa-miR-4670-3p	CLIP-seq
MIRT2007441	hsa-miR-4686	CLIP-seq
MIRT2007442	hsa-miR-4717-3p	CLIP-seq
MIRT2007443	hsa-miR-4724-5p	CLIP-seq
MIRT2007444	hsa-miR-4772-3p	CLIP-seq
MIRT2007445	hsa-miR-508-5p	CLIP-seq
MIRT2007446	hsa-miR-885-5p	CLIP-seq
MIRT2240105	hsa-miR-1265	CLIP-seq
MIRT2240106	hsa-miR-1910	CLIP-seq
MIRT2240107	hsa-miR-3122	CLIP-seq
MIRT2240108	hsa-miR-3153	CLIP-seq
MIRT2240109	hsa-miR-3913-5p	CLIP-seq
MIRT2240110	hsa-miR-455-3p	CLIP-seq
MIRT1037167	hsa-miR-4668-5p	CLIP-seq
MIRT2240111	hsa-miR-4691-5p	CLIP-seq
MIRT2240112	hsa-miR-4719	CLIP-seq
MIRT2240105	hsa-miR-1265	CLIP-seq
MIRT2543804	hsa-miR-153	CLIP-seq
MIRT2240106	hsa-miR-1910	CLIP-seq
MIRT2240107	hsa-miR-3122	CLIP-seq
MIRT2240108	hsa-miR-3153	CLIP-seq
MIRT2543805	hsa-miR-3607-3p	CLIP-seq
MIRT2543806	hsa-miR-3686	CLIP-seq
MIRT2543807	hsa-miR-371-5p	CLIP-seq
MIRT2543808	hsa-miR-376a	CLIP-seq
MIRT2543809	hsa-miR-376b	CLIP-seq
MIRT2240109	hsa-miR-3913-5p	CLIP-seq
MIRT2543810	hsa-miR-3938	CLIP-seq
MIRT2240110	hsa-miR-455-3p	CLIP-seq
MIRT2543811	hsa-miR-4652-3p	CLIP-seq
MIRT1037167	hsa-miR-4668-5p	CLIP-seq
MIRT2240111	hsa-miR-4691-5p	CLIP-seq
MIRT2543812	hsa-miR-642a	CLIP-seq
MIRT2543813	hsa-miR-651	CLIP-seq
MIRT2240105	hsa-miR-1265	CLIP-seq
MIRT2543804	hsa-miR-153	CLIP-seq
MIRT2240106	hsa-miR-1910	CLIP-seq
MIRT2240107	hsa-miR-3122	CLIP-seq
MIRT2240108	hsa-miR-3153	CLIP-seq
MIRT2543806	hsa-miR-3686	CLIP-seq
MIRT2543807	hsa-miR-371-5p	CLIP-seq
MIRT2543808	hsa-miR-376a	CLIP-seq
MIRT2543809	hsa-miR-376b	CLIP-seq
MIRT2240109	hsa-miR-3913-5p	CLIP-seq
MIRT2543810	hsa-miR-3938	CLIP-seq
MIRT2240110	hsa-miR-455-3p	CLIP-seq
MIRT2543811	hsa-miR-4652-3p	CLIP-seq
MIRT1037167	hsa-miR-4668-5p	CLIP-seq
MIRT2240111	hsa-miR-4691-5p	CLIP-seq
MIRT2543812	hsa-miR-642a	CLIP-seq
MIRT2543813	hsa-miR-651	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000438	Component	Core TFIIH complex portion of holo TFIIH complex	IDA	27193682
GO:0000439	Component	Transcription factor TFIIH core complex	IBA
GO:0000439	Component	Transcription factor TFIIH core complex	IEA
GO:0005515	Function	Protein binding	IPI	8652557, 24981860, 25416956, 28514442, 33961781
GO:0005634	Component	Nucleus	IDA	27193682
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IDA	27193682
GO:0005675	Component	Transcription factor TFIIH holo complex	IBA
GO:0005675	Component	Transcription factor TFIIH holo complex	IDA	9852112
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	8194529
GO:0006289	Process	Nucleotide-excision repair	IBA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112, 27193682
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	27193682
GO:0046872	Function	Metal ion binding	IEA
GO:0097550	Component	Transcription preinitiation complex	IDA	27193682

Other IDs

• MIM: 601750
• HGNC: 4657
• e!Ensembl: ENSG00000111358

Protein

• UniProt ID: Q13889
• Protein name: General transcription factor IIH subunit 3 (Basic transcription factor 2 34 kDa subunit) (BTF2 p34) (General transcription factor IIH polypeptide 3) (TFIIH basal transcription factor complex p34 subunit)
• Protein function: Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA
• PDB: 5IVW, 5IY6, 5IY7, 5IY8, 5IY9, 5O85, 5OF4, 6NMI, 6O9L, 6O9M, 6RO4, 7AD8, 7EGB, 7EGC, 7ENA, 7ENC, 7LBM, 7NVR, 7NVW, 7NVX, 7NVY, 7NVZ, 7NW0, 8BVW, 8BYQ, 8EBS, 8EBT, 8EBU, 8EBV, 8EBW, 8EBX, 8EBY, 8GXQ, 8GXS, 8WAK, 8WAL, 8WAN, 8WAO, 8WAP, 8WAQ, 8WAR, 8WAS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03850	Tfb4	8 → 286	Transcription factor Tfb4	Domain

• Sequence:

  MVSDEDELNLLVIVVDANPIWWGKQALKESQFTLSKCIDAVMVLGNSHLFMNRSNKLAVI
  ASHIQESRFLYPGKNGRLGDFFGDPGNPPEFNPSGSKDGKYELLTSANEVIVEEIKDLMT
  KSDIKGQHTETLLAGSLAKALCYIHRMNKEVKDNQEMKSRILVIKAAEDSALQYMNFMNV
  IFAAQKQNILIDACVLDSDSGLLQQACDITGGLYLKVPQMPSLLQYLLWVFLPDQDQRSQ
  LILPPPVHVDYRAACFCHRNLIEIGYVCSVCLSIFCNFSPICTTCETAFKISLPPVLKAK
  KKKLKVSA

• Sequence length: 308

Pathways

KEGG:

Basal transcription factors
Nucleotide excision repair
Viral carcinogenesis

Reactome:

Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
mRNA Capping
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE

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
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	9268294		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	8735493		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17210687		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	10699759		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	10660593, 14726016, 16246722, 17466625, 18077223, 19008953, 21965540, 26149386, 31110295, 8465201		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	26149386	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	24781187		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	1968791		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	17466625, 26149386		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	30872642, 9671271		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31064989		★☆☆☆☆ Found in Text Mining only
Diffuse panbronchiolitis	Diffuse Panbronchiolitis	BEFREE	12185533		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35830453	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23504502	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	17466625, 26149386		★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	8981949		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17210687		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10734072		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	18470933, 18817897		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11239393, 15221960, 15678607		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30651597		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17210687, 29065309, 9268294		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35090094	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35830453	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	24382738	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10734072		★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	24382738	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	24781187		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	8981949		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29065309		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	31828418		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23504502	Associate	★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	10660593, 11062469, 11734544, 12393803, 12820975, 14726016, 15590337, 18077223, 18579452, 19008953, 19172752, 19808800, 19931493, 21730288, 22234153, 25340339, 25605938, 25620205, 30068551, 7613092, 9012405, 9771713		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	10064601, 10467415, 10660593, 11239393, 11734544, 11955452, 12393803, 12820975, 14726016, 16167068, 16947863, 18077223, 19008953, 19934020, 21571596, 22234153, 25605938, 25620205, 28977422, 29616226, 7980491, 8465201, 9012405, 9557707		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum and Cockayne syndrome complex	Xeroderma Pigmentosum-Cockayne Syndrome Complex	BEFREE	16167068		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group G	Xeroderma pigmentosum	Pubtator	26149386	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	11242112, 20797633, 9427533		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	9753735		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group B	Xeroderma Pigmentosum	BEFREE	29959982, 8663148		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	BEFREE	26149386		★☆☆☆☆ Found in Text Mining only