RPA1 (replication protein A1)

Gene

• Entrez ID: 6117
• Gene name: Replication protein A1
• Gene symbol: RPA1
• Synonyms (NCBI Gene): HSSB, MST075, PFBMFT6, REPA1, RF-A, RP-A, RPA70
• Chromosome: 17
• Chromosome location: 17p13.3
• Summary: This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication,

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051422	hsa-let-7e-5p	CLASH	23622248
MIRT049867	hsa-miR-31-5p	CLASH	23622248
MIRT042750	hsa-miR-339-5p	CLASH	23622248
MIRT039750	hsa-miR-615-3p	CLASH	23622248
MIRT036052	hsa-miR-1301-3p	CLASH	23622248
MIRT735341	hsa-miR-1293	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR, In situ hybridization	32320642
MIRT1315394	hsa-miR-1252	CLIP-seq
MIRT1315395	hsa-miR-302f	CLIP-seq
MIRT1315396	hsa-miR-3130-3p	CLIP-seq
MIRT1315397	hsa-miR-3167	CLIP-seq
MIRT1315398	hsa-miR-335	CLIP-seq
MIRT1315399	hsa-miR-3618	CLIP-seq
MIRT1315400	hsa-miR-3622a-3p	CLIP-seq
MIRT1315401	hsa-miR-3622b-3p	CLIP-seq
MIRT1315402	hsa-miR-3674	CLIP-seq
MIRT1315403	hsa-miR-3942-3p	CLIP-seq
MIRT1315404	hsa-miR-4264	CLIP-seq
MIRT1315405	hsa-miR-4265	CLIP-seq
MIRT1315406	hsa-miR-4296	CLIP-seq
MIRT1315407	hsa-miR-4318	CLIP-seq
MIRT1315408	hsa-miR-4322	CLIP-seq
MIRT1315409	hsa-miR-4417	CLIP-seq
MIRT1315410	hsa-miR-4476	CLIP-seq
MIRT1315411	hsa-miR-4502	CLIP-seq
MIRT1315412	hsa-miR-4533	CLIP-seq
MIRT1315413	hsa-miR-4540	CLIP-seq
MIRT1315414	hsa-miR-4676-5p	CLIP-seq
MIRT1315415	hsa-miR-4709-5p	CLIP-seq
MIRT1315416	hsa-miR-4762-3p	CLIP-seq
MIRT1315417	hsa-miR-4793-3p	CLIP-seq
MIRT1315418	hsa-miR-548g	CLIP-seq
MIRT1315419	hsa-miR-575	CLIP-seq
MIRT1315420	hsa-miR-622	CLIP-seq
MIRT1315421	hsa-miR-625	CLIP-seq
MIRT1315422	hsa-miR-642b	CLIP-seq
MIRT1315423	hsa-miR-876-5p	CLIP-seq
MIRT1922349	hsa-miR-532-5p	CLIP-seq
MIRT2093832	hsa-miR-1273e	CLIP-seq
MIRT1315395	hsa-miR-302f	CLIP-seq
MIRT2093833	hsa-miR-3074-3p	CLIP-seq
MIRT2093834	hsa-miR-3074-5p	CLIP-seq
MIRT2093835	hsa-miR-3121-5p	CLIP-seq
MIRT1315396	hsa-miR-3130-3p	CLIP-seq
MIRT2093836	hsa-miR-3152-5p	CLIP-seq
MIRT2093837	hsa-miR-345	CLIP-seq
MIRT2093838	hsa-miR-361-5p	CLIP-seq
MIRT1315399	hsa-miR-3618	CLIP-seq
MIRT1315400	hsa-miR-3622a-3p	CLIP-seq
MIRT1315401	hsa-miR-3622b-3p	CLIP-seq
MIRT2093839	hsa-miR-3682-3p	CLIP-seq
MIRT2093840	hsa-miR-3689a-3p	CLIP-seq
MIRT2093841	hsa-miR-3689c	CLIP-seq
MIRT2093842	hsa-miR-3689d	CLIP-seq
MIRT2093843	hsa-miR-370	CLIP-seq
MIRT2093844	hsa-miR-3914	CLIP-seq
MIRT2093845	hsa-miR-4493	CLIP-seq
MIRT2093846	hsa-miR-450b-3p	CLIP-seq
MIRT2093847	hsa-miR-4668-3p	CLIP-seq
MIRT2093848	hsa-miR-4713-3p	CLIP-seq
MIRT2093849	hsa-miR-4727-5p	CLIP-seq
MIRT2093850	hsa-miR-4728-5p	CLIP-seq
MIRT2093851	hsa-miR-4774-3p	CLIP-seq
MIRT1315417	hsa-miR-4793-3p	CLIP-seq
MIRT2093852	hsa-miR-638	CLIP-seq
MIRT1315422	hsa-miR-642b	CLIP-seq
MIRT2093853	hsa-miR-769-3p	CLIP-seq
MIRT2093854	hsa-miR-889	CLIP-seq
MIRT2093855	hsa-miR-892a	CLIP-seq
MIRT2318271	hsa-miR-1182	CLIP-seq
MIRT2318272	hsa-miR-1184	CLIP-seq
MIRT2318273	hsa-miR-1205	CLIP-seq
MIRT2093832	hsa-miR-1273e	CLIP-seq
MIRT2318274	hsa-miR-197	CLIP-seq
MIRT2318275	hsa-miR-29a	CLIP-seq
MIRT2318276	hsa-miR-29b	CLIP-seq
MIRT2318277	hsa-miR-29c	CLIP-seq
MIRT2093834	hsa-miR-3074-5p	CLIP-seq
MIRT2093835	hsa-miR-3121-5p	CLIP-seq
MIRT2093836	hsa-miR-3152-5p	CLIP-seq
MIRT2318278	hsa-miR-3158-5p	CLIP-seq
MIRT2318279	hsa-miR-3164	CLIP-seq
MIRT2318280	hsa-miR-3191	CLIP-seq
MIRT2318281	hsa-miR-323-5p	CLIP-seq
MIRT2318282	hsa-miR-3614-3p	CLIP-seq
MIRT2093838	hsa-miR-361-5p	CLIP-seq
MIRT1315399	hsa-miR-3618	CLIP-seq
MIRT1315400	hsa-miR-3622a-3p	CLIP-seq
MIRT1315401	hsa-miR-3622b-3p	CLIP-seq
MIRT2318283	hsa-miR-3668	CLIP-seq
MIRT2093839	hsa-miR-3682-3p	CLIP-seq
MIRT2093840	hsa-miR-3689a-3p	CLIP-seq
MIRT2093841	hsa-miR-3689c	CLIP-seq
MIRT2093842	hsa-miR-3689d	CLIP-seq
MIRT2093843	hsa-miR-370	CLIP-seq
MIRT2318284	hsa-miR-4276	CLIP-seq
MIRT2318285	hsa-miR-4311	CLIP-seq
MIRT2318286	hsa-miR-4329	CLIP-seq
MIRT2318287	hsa-miR-4434	CLIP-seq
MIRT2318288	hsa-miR-4483	CLIP-seq
MIRT2318289	hsa-miR-4516	CLIP-seq
MIRT2318290	hsa-miR-452	CLIP-seq
MIRT2318291	hsa-miR-4520a-3p	CLIP-seq
MIRT2318292	hsa-miR-4527	CLIP-seq
MIRT2318293	hsa-miR-4531	CLIP-seq
MIRT2318294	hsa-miR-4651	CLIP-seq
MIRT2318295	hsa-miR-4659a-5p	CLIP-seq
MIRT2318296	hsa-miR-4659b-5p	CLIP-seq
MIRT2318297	hsa-miR-4676-3p	CLIP-seq
MIRT2318298	hsa-miR-4697-3p	CLIP-seq
MIRT2093849	hsa-miR-4727-5p	CLIP-seq
MIRT2093850	hsa-miR-4728-5p	CLIP-seq
MIRT2093851	hsa-miR-4774-3p	CLIP-seq
MIRT2318299	hsa-miR-4776-3p	CLIP-seq
MIRT2318300	hsa-miR-548al	CLIP-seq
MIRT2318301	hsa-miR-608	CLIP-seq
MIRT2093852	hsa-miR-638	CLIP-seq
MIRT1315422	hsa-miR-642b	CLIP-seq
MIRT2458539	hsa-miR-4269	CLIP-seq
MIRT2458540	hsa-miR-4310	CLIP-seq
MIRT2458541	hsa-miR-4514	CLIP-seq
MIRT2458542	hsa-miR-4692	CLIP-seq
MIRT2458543	hsa-miR-4742-5p	CLIP-seq
MIRT1315394	hsa-miR-1252	CLIP-seq
MIRT2093832	hsa-miR-1273e	CLIP-seq
MIRT2614101	hsa-miR-1273f	CLIP-seq
MIRT2614102	hsa-miR-138	CLIP-seq
MIRT2614103	hsa-miR-143	CLIP-seq
MIRT2318275	hsa-miR-29a	CLIP-seq
MIRT2318276	hsa-miR-29b	CLIP-seq
MIRT2318277	hsa-miR-29c	CLIP-seq
MIRT1315395	hsa-miR-302f	CLIP-seq
MIRT2093834	hsa-miR-3074-5p	CLIP-seq
MIRT2093835	hsa-miR-3121-5p	CLIP-seq
MIRT1315396	hsa-miR-3130-3p	CLIP-seq
MIRT2093836	hsa-miR-3152-5p	CLIP-seq
MIRT1315398	hsa-miR-335	CLIP-seq
MIRT1315399	hsa-miR-3618	CLIP-seq
MIRT1315400	hsa-miR-3622a-3p	CLIP-seq
MIRT1315401	hsa-miR-3622b-3p	CLIP-seq
MIRT2318283	hsa-miR-3668	CLIP-seq
MIRT2093839	hsa-miR-3682-3p	CLIP-seq
MIRT2093840	hsa-miR-3689a-3p	CLIP-seq
MIRT2093841	hsa-miR-3689c	CLIP-seq
MIRT2093842	hsa-miR-3689d	CLIP-seq
MIRT2093843	hsa-miR-370	CLIP-seq
MIRT1315403	hsa-miR-3942-3p	CLIP-seq
MIRT2614104	hsa-miR-4251	CLIP-seq
MIRT1315404	hsa-miR-4264	CLIP-seq
MIRT2614105	hsa-miR-4303	CLIP-seq
MIRT2318286	hsa-miR-4329	CLIP-seq
MIRT1315410	hsa-miR-4476	CLIP-seq
MIRT2093846	hsa-miR-450b-3p	CLIP-seq
MIRT1315412	hsa-miR-4533	CLIP-seq
MIRT1315413	hsa-miR-4540	CLIP-seq
MIRT2614106	hsa-miR-4633-5p	CLIP-seq
MIRT2318295	hsa-miR-4659a-5p	CLIP-seq
MIRT2318296	hsa-miR-4659b-5p	CLIP-seq
MIRT2614107	hsa-miR-4708-5p	CLIP-seq
MIRT2093848	hsa-miR-4713-3p	CLIP-seq
MIRT2093850	hsa-miR-4728-5p	CLIP-seq
MIRT2614108	hsa-miR-4770	CLIP-seq
MIRT2093851	hsa-miR-4774-3p	CLIP-seq
MIRT2318299	hsa-miR-4776-3p	CLIP-seq
MIRT1315417	hsa-miR-4793-3p	CLIP-seq
MIRT1922349	hsa-miR-532-5p	CLIP-seq
MIRT1315420	hsa-miR-622	CLIP-seq
MIRT1315421	hsa-miR-625	CLIP-seq
MIRT2093852	hsa-miR-638	CLIP-seq
MIRT1315422	hsa-miR-642b	CLIP-seq
MIRT2093853	hsa-miR-769-3p	CLIP-seq
MIRT2093855	hsa-miR-892a	CLIP-seq
MIRT1315394	hsa-miR-1252	CLIP-seq
MIRT2614101	hsa-miR-1273f	CLIP-seq
MIRT2614102	hsa-miR-138	CLIP-seq
MIRT2614103	hsa-miR-143	CLIP-seq
MIRT1315395	hsa-miR-302f	CLIP-seq
MIRT2093835	hsa-miR-3121-5p	CLIP-seq
MIRT1315396	hsa-miR-3130-3p	CLIP-seq
MIRT2093836	hsa-miR-3152-5p	CLIP-seq
MIRT1315398	hsa-miR-335	CLIP-seq
MIRT1315399	hsa-miR-3618	CLIP-seq
MIRT1315400	hsa-miR-3622a-3p	CLIP-seq
MIRT1315401	hsa-miR-3622b-3p	CLIP-seq
MIRT1315403	hsa-miR-3942-3p	CLIP-seq
MIRT2614104	hsa-miR-4251	CLIP-seq
MIRT1315404	hsa-miR-4264	CLIP-seq
MIRT2614105	hsa-miR-4303	CLIP-seq
MIRT2318286	hsa-miR-4329	CLIP-seq
MIRT1315410	hsa-miR-4476	CLIP-seq
MIRT1315412	hsa-miR-4533	CLIP-seq
MIRT1315413	hsa-miR-4540	CLIP-seq
MIRT2614106	hsa-miR-4633-5p	CLIP-seq
MIRT2614107	hsa-miR-4708-5p	CLIP-seq
MIRT2614108	hsa-miR-4770	CLIP-seq
MIRT2093851	hsa-miR-4774-3p	CLIP-seq
MIRT1315417	hsa-miR-4793-3p	CLIP-seq
MIRT1922349	hsa-miR-532-5p	CLIP-seq
MIRT1315420	hsa-miR-622	CLIP-seq
MIRT1315421	hsa-miR-625	CLIP-seq
MIRT1315422	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	IEA
GO:0000723	Process	Telomere maintenance	IC	16973897, 24747047, 26041456
GO:0000723	Process	Telomere maintenance	IMP	17959650
GO:0000723	Process	Telomere maintenance	NAS	17959650
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	18417535, 26811421, 35597237
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	17765923
GO:0000724	Process	Double-strand break repair via homologous recombination	NAS	17765923
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000793	Component	Condensed chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000800	Component	Lateral element	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IDA	7700386, 27723717, 27723720
GO:0003697	Function	Single-stranded DNA binding	IDA	8990123, 19010961
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	1311258, 2159011, 7700386, 7760808, 10373438, 10825162, 11927569, 12527904, 15735006, 15775963, 15897895, 15965237, 17666013, 17673209, 19338310, 20811460, 24126761, 24981860, 25416956, 26496610, 27723717, 27723720, 28514442, 28534480, 29395061, 32296183, 33961781, 34591612
GO:0005634	Component	Nucleus	IDA	17959650
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005662	Component	DNA replication factor A complex	IBA
GO:0005662	Component	DNA replication factor A complex	IDA	11927569, 27723717, 27723720
GO:0005662	Component	DNA replication factor A complex	IEA
GO:0005662	Component	DNA replication factor A complex	IPI	7760808, 11927569
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	9430682
GO:0006260	Process	DNA replication	NAS	9430682
GO:0006261	Process	DNA-templated DNA replication	TAS	8756712
GO:0006281	Process	DNA repair	IDA	20545304
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	18469000
GO:0006284	Process	Base-excision repair	IDA	9765279
GO:0006289	Process	Nucleotide-excision repair	IBA
GO:0006289	Process	Nucleotide-excision repair	IMP	9430682
GO:0006289	Process	Nucleotide-excision repair	NAS	9430682
GO:0006298	Process	Mismatch repair	IMP	9430682
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	TAS	8756712
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	27248496
GO:0007004	Process	Telomere maintenance via telomerase	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0016605	Component	PML body	IDA	17959650
GO:0016605	Component	PML body	IDA	16135809
GO:0016605	Component	PML body	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0034502	Process	Protein localization to chromosome	IDA	27723717, 27723720
GO:0035861	Component	Site of double-strand break	IDA	35597237
GO:0043047	Function	Single-stranded telomeric DNA binding	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0051321	Process	Meiotic cell cycle	IBA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0090734	Component	Site of DNA damage	IMP	27248496
GO:0098505	Function	G-rich strand telomeric DNA binding	IDA	16973897, 24747047
GO:0098505	Function	G-rich strand telomeric DNA binding	IMP	26041456
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	35597237
GO:1990166	Process	Protein localization to site of double-strand break	IDA	35597237
GO:1990166	Process	Protein localization to site of double-strand break	IDA	35597237

Other IDs

• MIM: 179835
• HGNC: 10289
• e!Ensembl: ENSG00000132383

Protein

• UniProt ID: P27694
• Protein name: Replication protein A 70 kDa DNA-binding subunit (RP-A p70) (Replication factor A protein 1) (RF-A protein 1) (Single-stranded DNA-binding protein) [Cleaved into: Replication protein A 70 kDa DNA-binding subunit, N-terminally processed]
• Protein function: As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activ
• PDB: 1EWI, 1FGU, 1JMC, 1L1O, 2B29, 2B3G, 4IJH, 4IJL, 4IPC, 4IPD, 4IPG, 4IPH, 4LUO, 4LUV, 4LUZ, 4LW1, 4LWC, 4NB3, 4O0A, 4R4C, 4R4I, 4R4O, 4R4Q, 4R4T, 5E7N, 5EAY, 5N85, 5N8A, 7XUT, 7XUV, 7XUW, 7XV0, 7XV1, 7XV4, 8JZV, 8JZY, 8K00, 8RK2, 9J1S, 9MJ5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04057	Rep-A_N	5 → 104	Replication factor-A protein 1, N-terminal domain	Domain
  PF01336	tRNA_anti-codon	197 → 286	OB-fold nucleic acid binding domain	Domain
  PF16900	REPA_OB_2	305 → 402	Replication protein A OB domain	Domain
  PF08646	Rep_fac-A_C	461 → 606	Replication factor-A C terminal domain	Family

• Sequence:

  MVGQLSEGAIAAIMQKGDTNIKPILQVINIRPITTGNSPPRYRLLMSDGLNTLSSFMLAT
  QLNPLVEEEQLSSNCVCQIHRFIVNTLKDGRRVVILMELEVLKSAEAVGVKIGNPVPYNE
  GLGQPQVAPPAPAASPAASSRPQPQNGSSGMGSTVSKAYGASKTFGKAAGPSLSHTSGGT
  QSKVVPIASLTPYQSKWTICARVTNKSQIRTWSNSRGEGKLFSLELVDESGEIRATAFNE
  QVDKFFPLIEVNKVYYFSKGTLKIANKQFTAVKNDYEMTFNNETSVMPCEDDHHLPTVQF
  DFTGIDDLENKSKDSLVDIIGICKSYEDATKITVRSNNREVAKRNIYLMDTSGKVVTATL
  WGEDADKFDGSRQPVLAIKGARVSDFGGRSLSVLSSSTIIANPDIPEAYKLRGWFDAEGQ
  ALDGVSISDLKSGGVGGSNTNWKTLYEVKSENLGQGDKPDYFSSVATVVYLRKENCMYQA
  CPTQDCNKKVIDQQNGLYRCEKCDTEFPNFKYRMILSVNIADFQENQWVTCFQESAEAIL
  GQNAAYLGELKDKNEQAFEEVFQNANFRSFIFRVRVKVETYNDESRIKATVMDVKPVDYR
  EYGRRLVMSIRRSALM

• Sequence length: 616

Pathways

KEGG:

DNA replication
Nucleotide excision repair
Mismatch repair
Homologous recombination
Fanconi anemia pathway

Reactome:

Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Removal of the Flap Intermediate from the C-strand
Activation of ATR in response to replication stress
SUMOylation of DNA damage response and repair proteins
Regulation of HSF1-mediated heat shock response
HSF1 activation
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
PCNA-Dependent Long Patch Base Excision Repair
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Formation of Incision Complex in GG-NER
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Fanconi Anemia Pathway
Regulation of TP53 Activity through Phosphorylation
Activation of the pre-replicative complex
Removal of the Flap Intermediate
G2/M DNA damage checkpoint

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
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6	Pathogenic	rs916648829, rs570041689	RCV001843384 RCV001843385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RPA1-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RPA1-related short telomere syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Abortion Spontaneous	Associate	36139348	★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of Lung	Associate	19297315, 33535033	★☆☆☆☆ Found in Text Mining only
Adenoma	Associate	17109495	★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Associate	17959650	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Inhibit	29474873	★☆☆☆☆ Found in Text Mining only
Anemia	Associate	28924235	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Associate	22948311, 23897887, 8246944, 8986766	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Associate	7761458	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Associate	26366868	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Associate	34767620	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	21666281, 30420728	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Associate	11895905	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	28186269	★☆☆☆☆ Found in Text Mining only
Chromosome Breakage	Associate	15929725	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Associate	10733572	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	17361204	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	31297992	★☆☆☆☆ Found in Text Mining only
Death	Associate	28186269	★☆☆☆☆ Found in Text Mining only
DNA Repair Deficiency Disorders	Stimulate	10733572	★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	20395205	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Associate	27398742, 34404366, 35506981	★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia 1	Associate	28575658	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Associate	27182645	★☆☆☆☆ Found in Text Mining only
Hypoxia	Associate	20103649, 28186269	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Associate	21409565	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Associate	17109495	★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Associate	37378431	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Associate	20532800	★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Associate	18077792	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	21846830, 36277983	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	17361204	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Associate	34767620	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	26366868	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Associate	34767620	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Associate	37858134	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	16234232, 20139621, 25113031, 25354783, 26145171, 33535033, 33784323, 35506981, 36444883, 37834389	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	26782416	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	21846830	★☆☆☆☆ Found in Text Mining only
Progeria	Associate	28483909	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	32300177	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Associate	34767620	★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Associate	19793862	★☆☆☆☆ Found in Text Mining only
Shwachman Diamond Syndrome	Associate	19602484	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	32862594	★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	Associate	34767620	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Associate	28924235	★☆☆☆☆ Found in Text Mining only
Uniparental Disomy	Associate	34767620	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Associate	34404366	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	19389243, 23010595	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Stimulate	10733572	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group E	Associate	9584159	★☆☆☆☆ Found in Text Mining only