RAD51D (RAD51 paralog D)

Gene

• Entrez ID: 5892
• Gene name: RAD51 paralog D
• Gene symbol: RAD51D
• Synonyms (NCBI Gene): BROVCA4, R51H3, RAD51L3, TRAD
• Chromosome: 17
• Chromosome location: 17q12
• Summary: The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029789	hsa-miR-26b-5p	Microarray	19088304
MIRT043149	hsa-miR-324-5p	CLASH	23622248
MIRT040122	hsa-miR-615-3p	CLASH	23622248
MIRT483766	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT483765	hsa-miR-520f-3p	PAR-CLIP	23592263
MIRT483764	hsa-miR-509-3p	PAR-CLIP	23592263
MIRT483763	hsa-miR-636	PAR-CLIP	23592263
MIRT483762	hsa-miR-5587-5p	PAR-CLIP	23592263
MIRT483761	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT483766	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT483765	hsa-miR-520f-3p	PAR-CLIP	23592263
MIRT483764	hsa-miR-509-3p	PAR-CLIP	23592263
MIRT483763	hsa-miR-636	PAR-CLIP	23592263
MIRT483762	hsa-miR-5587-5p	PAR-CLIP	23592263
MIRT483761	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT1288157	hsa-miR-1207-3p	CLIP-seq
MIRT1288158	hsa-miR-1207-5p	CLIP-seq
MIRT1288159	hsa-miR-1226	CLIP-seq
MIRT1288160	hsa-miR-1825	CLIP-seq
MIRT1288161	hsa-miR-2115	CLIP-seq
MIRT1288162	hsa-miR-214	CLIP-seq
MIRT1288163	hsa-miR-25	CLIP-seq
MIRT1288164	hsa-miR-28-3p	CLIP-seq
MIRT1288165	hsa-miR-30a	CLIP-seq
MIRT1288166	hsa-miR-30b	CLIP-seq
MIRT1288167	hsa-miR-30c	CLIP-seq
MIRT1288168	hsa-miR-30d	CLIP-seq
MIRT1288169	hsa-miR-30e	CLIP-seq
MIRT1288170	hsa-miR-3188	CLIP-seq
MIRT1288171	hsa-miR-32	CLIP-seq
MIRT1288172	hsa-miR-339-5p	CLIP-seq
MIRT1288173	hsa-miR-34a	CLIP-seq
MIRT1288174	hsa-miR-34c-5p	CLIP-seq
MIRT1288175	hsa-miR-3619-5p	CLIP-seq
MIRT1288176	hsa-miR-363	CLIP-seq
MIRT1288177	hsa-miR-3658	CLIP-seq
MIRT1288178	hsa-miR-367	CLIP-seq
MIRT1288179	hsa-miR-3689a-3p	CLIP-seq
MIRT1288180	hsa-miR-3689c	CLIP-seq
MIRT1288181	hsa-miR-3908	CLIP-seq
MIRT1288182	hsa-miR-3914	CLIP-seq
MIRT1288183	hsa-miR-4259	CLIP-seq
MIRT1288184	hsa-miR-4316	CLIP-seq
MIRT1288185	hsa-miR-432	CLIP-seq
MIRT1288186	hsa-miR-4425	CLIP-seq
MIRT1288187	hsa-miR-4436b-3p	CLIP-seq
MIRT1288188	hsa-miR-449a	CLIP-seq
MIRT1288189	hsa-miR-449b	CLIP-seq
MIRT1288190	hsa-miR-4536	CLIP-seq
MIRT1288191	hsa-miR-4646-5p	CLIP-seq
MIRT1288192	hsa-miR-4659a-5p	CLIP-seq
MIRT1288193	hsa-miR-4659b-5p	CLIP-seq
MIRT1288194	hsa-miR-4661-5p	CLIP-seq
MIRT1288195	hsa-miR-4690-5p	CLIP-seq
MIRT1288196	hsa-miR-4693-3p	CLIP-seq
MIRT1288197	hsa-miR-4728-5p	CLIP-seq
MIRT1288198	hsa-miR-4733-3p	CLIP-seq
MIRT1288199	hsa-miR-4736	CLIP-seq
MIRT1288200	hsa-miR-4747-5p	CLIP-seq
MIRT1288201	hsa-miR-4755-3p	CLIP-seq
MIRT1288202	hsa-miR-4759	CLIP-seq
MIRT1288203	hsa-miR-4761-3p	CLIP-seq
MIRT1288204	hsa-miR-4763-3p	CLIP-seq
MIRT1288205	hsa-miR-4776-3p	CLIP-seq
MIRT1288206	hsa-miR-4795-3p	CLIP-seq
MIRT1288207	hsa-miR-516a-3p	CLIP-seq
MIRT1288208	hsa-miR-544	CLIP-seq
MIRT1288209	hsa-miR-548p	CLIP-seq
MIRT1288210	hsa-miR-615-5p	CLIP-seq
MIRT1288211	hsa-miR-634	CLIP-seq
MIRT1288212	hsa-miR-670	CLIP-seq
MIRT1288213	hsa-miR-761	CLIP-seq
MIRT1288214	hsa-miR-877	CLIP-seq
MIRT1288215	hsa-miR-92a	CLIP-seq
MIRT1288216	hsa-miR-92b	CLIP-seq
MIRT1288217	hsa-miR-944	CLIP-seq
MIRT1288157	hsa-miR-1207-3p	CLIP-seq
MIRT2085311	hsa-miR-149	CLIP-seq
MIRT1288164	hsa-miR-28-3p	CLIP-seq
MIRT2085312	hsa-miR-4318	CLIP-seq
MIRT2085313	hsa-miR-4446-5p	CLIP-seq
MIRT2085314	hsa-miR-4693-5p	CLIP-seq
MIRT2085315	hsa-miR-4699-3p	CLIP-seq
MIRT1288202	hsa-miR-4759	CLIP-seq
MIRT1288208	hsa-miR-544	CLIP-seq
MIRT2085316	hsa-miR-545	CLIP-seq
MIRT2085317	hsa-miR-760	CLIP-seq
MIRT2085318	hsa-miR-892a	CLIP-seq
MIRT2310751	hsa-miR-1252	CLIP-seq
MIRT1288162	hsa-miR-214	CLIP-seq
MIRT1288165	hsa-miR-30a	CLIP-seq
MIRT1288166	hsa-miR-30b	CLIP-seq
MIRT1288167	hsa-miR-30c	CLIP-seq
MIRT1288168	hsa-miR-30d	CLIP-seq
MIRT1288169	hsa-miR-30e	CLIP-seq
MIRT2310752	hsa-miR-3115	CLIP-seq
MIRT2310753	hsa-miR-3120-5p	CLIP-seq
MIRT1288173	hsa-miR-34a	CLIP-seq
MIRT1288174	hsa-miR-34c-5p	CLIP-seq
MIRT1288175	hsa-miR-3619-5p	CLIP-seq
MIRT2310754	hsa-miR-3692	CLIP-seq
MIRT2310755	hsa-miR-3714	CLIP-seq
MIRT2310756	hsa-miR-3936	CLIP-seq
MIRT2310757	hsa-miR-4279	CLIP-seq
MIRT2310758	hsa-miR-4496	CLIP-seq
MIRT1288188	hsa-miR-449a	CLIP-seq
MIRT1288189	hsa-miR-449b	CLIP-seq
MIRT1288195	hsa-miR-4690-5p	CLIP-seq
MIRT2310759	hsa-miR-548an	CLIP-seq
MIRT2085317	hsa-miR-760	CLIP-seq
MIRT1288213	hsa-miR-761	CLIP-seq
MIRT2457694	hsa-miR-4481	CLIP-seq
MIRT2457695	hsa-miR-4521	CLIP-seq
MIRT2457696	hsa-miR-4745-5p	CLIP-seq
MIRT2457697	hsa-miR-610	CLIP-seq
MIRT2457694	hsa-miR-4481	CLIP-seq
MIRT2457695	hsa-miR-4521	CLIP-seq
MIRT2457696	hsa-miR-4745-5p	CLIP-seq
MIRT2457697	hsa-miR-610	CLIP-seq
MIRT2607137	hsa-miR-3919	CLIP-seq
MIRT2607138	hsa-miR-4708-5p	CLIP-seq
MIRT2607139	hsa-miR-4756-3p	CLIP-seq
MIRT2689280	hsa-miR-3125	CLIP-seq
MIRT2689281	hsa-miR-3173-3p	CLIP-seq
MIRT2689282	hsa-miR-3916	CLIP-seq
MIRT2689283	hsa-miR-548g	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000400	Function	Four-way junction DNA binding	IBA
GO:0000400	Function	Four-way junction DNA binding	IDA	20207730
GO:0000722	Process	Telomere maintenance via recombination	IMP	15109494
GO:0000723	Process	Telomere maintenance	IBA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	IMP	15109494
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	23149936
GO:0000781	Component	Chromosome, telomeric region	IDA	15109494
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9570954
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	10871607
GO:0005515	Function	Protein binding	IPI	10749867, 10871607, 11751635, 11842113, 12975363, 16710300, 21516116, 21965664, 24141787, 25416956, 25910212, 28864920, 31515488, 32296183, 33961781, 34591612
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9570954
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IBA
GO:0005657	Component	Replication fork	IDA	20207730
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21276791
GO:0005813	Component	Centrosome	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9570954
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007131	Process	Reciprocal meiotic recombination	IBA
GO:0007131	Process	Reciprocal meiotic recombination	TAS	9570954
GO:0008094	Function	ATP-dependent activity, acting on DNA	IBA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	10871607
GO:0033063	Component	Rad51B-Rad51C-Rad51D-XRCC2 complex	IBA
GO:0033063	Component	Rad51B-Rad51C-Rad51D-XRCC2 complex	IDA	11751635
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0042148	Process	DNA strand invasion	IBA
GO:0042148	Process	DNA strand invasion	IDA	11834724
GO:0043015	Function	Gamma-tubulin binding	IDA	21276791
GO:0051276	Process	Chromosome organization	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IMP	16717288

Other IDs

• MIM: 602954
• HGNC: 9823
• e!Ensembl: ENSG00000185379

Protein

• UniProt ID: O75771
• Protein name: DNA repair protein RAD51 homolog 4 (R51H3) (RAD51 homolog D) (RAD51-like protein 3) (TRAD)
• Protein function: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single-stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the
• PDB: 2KZ3, 8FAZ, 8GBJ, 8OUY, 8OUZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08423	Rad51	36 → 315	Rad51	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in colon, prostate, spleen, testis, ovary, thymus and small intestine. Weakly expressed in leukocytes.
• Sequence:

  MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKALVALRRVLLAQ
  FSAFPVNGADLYEELKTSTAILSTGIGSLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCM
  AANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLD
  VLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARD
  LGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSR
  QPTGFQEMVDIGTWGTSEQSATLQGDQT

• Sequence length: 328

Pathways

KEGG:

Homologous recombination

Reactome:

HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Presynaptic phase of homologous DNA pairing and strand exchange
TP53 Regulates Transcription of DNA Repair Genes

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
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs587780104, rs587780105, rs587781756, rs370228071, rs750621215, rs387906843, rs1555570285, rs2091532104, rs2091602962	RCV001271051 RCV001798344 RCV001271048 RCV001798446 RCV001798583 RCV001271049 RCV001271009 RCV001271052 RCV001271050	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast carcinoma	Pathogenic	rs137886232	RCV001554259	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 1	Likely pathogenic; Pathogenic	rs587781756, rs200564819	RCV005861056 RCV004596133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 4	Likely pathogenic; Pathogenic	rs761589376, rs2142418872, rs2142429527, rs2142436967, rs2142473574, rs2142474668, rs2142411343, rs2142412448, rs2142420962, rs2142421182, rs2142437431, rs2142477107, rs2142480769, rs1567726124, rs2142473486, rs2142480074, rs1597862471, rs587780104, rs587780105, rs2142432010, rs2142433388, rs2142428757, rs2142411904, rs2142433535, rs2142474941, rs2142418516, rs2142477410, rs2142474239, rs200009601, rs2142429748, rs2142429702, rs587781527, rs587781756, rs370228071, rs587782695, rs587782736, rs2142433436, rs2509142706, rs2509137893, rs2142480422, rs2509135094, rs730881935, rs730882119, rs2509181607, rs750621215, rs786202251, rs786202750, rs786202434, rs786202179, rs786203137, rs786202788, rs2509143271, rs2509143339, rs2142477116, rs2091565327, rs2509189361, rs2509182483, rs2509135407, rs369946779, rs2509124625, rs2509181292, rs2509182386, rs2142428821, rs2509143386, rs773906955, rs876658297, rs753862052, rs200564819, rs2509189216, rs1567728649, rs2509143037, rs2509181675, rs2509125158, rs2509124779, rs2509125000, rs2509130113, rs2509181684, rs2509130428, rs2509185640, rs2142421220, rs2509124456, rs1597858201, rs2142429256, rs775510420, rs2509188925, rs148690585, rs2509129209, rs1419080369, rs2509124487, rs2142474934, rs2509130611, rs2509181363, rs2509189180, rs2509181990, rs2509182326, rs2509135478, rs2509137669, rs2509142747, rs2509181434, rs2509130471, rs2509138759, rs781161543, rs1057517586, rs1057521922, rs387906843, rs137886232, rs374357106, rs1060502958, rs1060502959, rs750219200, rs1064795045, rs1555567170, rs1064795716, rs1064793952, rs1555570397, rs1555568296, rs1403784434, rs1555568473, rs771007945, rs775365939, rs1555568386, rs1555570266, rs1555570285, rs1555567202, rs1555567610, rs1555568293, rs1555567649, rs1555568514, rs1409088398, rs1555567529, rs1555568382, rs1555570301, rs1555567197, rs1555570506, rs1567726325, rs771077929, rs1567726305, rs1597855883, rs1597856162, rs1597856236, rs1597876652, rs1597858626, rs1597862493, rs1597862732, rs1597863362, rs1597858666, rs1597878498, rs2091564839, rs2091603173, rs2091604825, rs200487648, rs2091605445, rs2091798919, rs2091789413, rs2091536198, rs2091789001, rs1064795913, rs2091788666, rs2091561681, rs2091622013	RCV001379627 RCV001377689 RCV001387854 RCV001381305 RCV001389569 RCV001387383 RCV001779172 RCV001779175 RCV001779177 RCV001779178 RCV001779180 RCV001779182 RCV001779183 RCV002862019 RCV001786509 RCV001786508 RCV001865993 RCV000410860 RCV000465960 RCV002015375 RCV001939318 RCV002002837 RCV001999249 RCV001919617 RCV001971401 RCV002009227 RCV001993251 RCV001897498 RCV002002559 RCV001941558 RCV001972789 RCV000559627 RCV000409676 RCV000204202 RCV000464954 RCV001217985 RCV004572267 RCV004048501 RCV004050019 RCV004051016 RCV004053641 RCV000545167 RCV000178184 RCV004061879 RCV000227954 RCV000467554 RCV004019980 RCV000649683 RCV002516468 RCV000469049 RCV001377740 RCV003528400 RCV003102161 RCV004067540 RCV002643896 RCV002794803 RCV002876318 RCV002867466 RCV002900420 RCV003009576 RCV003030850 RCV003019817 RCV003028620 RCV003024606 RCV001853569 RCV000552108 RCV000226442 RCV000229752 RCV003334756 RCV004362816 RCV003472541 RCV003472542 RCV003472543 RCV003450511 RCV003456336 RCV003450540 RCV003456338 RCV003452616 RCV003528567 RCV003527670 RCV003527828 RCV003643614 RCV003644205 RCV003644385 RCV003642563 RCV004439951 RCV004440022 RCV004440062 RCV004440087 RCV004440128 RCV004440129 RCV004440149 RCV004440161 RCV004440171 RCV004440187 RCV004440230 RCV004440325 RCV004440328 RCV004440352 RCV004440383 RCV004442431 RCV004442463 RCV004442500 RCV004442535 RCV004442692 RCV000410773 RCV000410439 RCV000662974 RCV000023220 RCV000023223 RCV000467492 RCV000467997 RCV000476191 RCV000475620 RCV000531216 RCV003456081 RCV000541278 RCV000649689 RCV000553617 RCV000549541 RCV000540056 RCV000527833 RCV000576488 RCV000576697 RCV001858346 RCV001240327 RCV004024505 RCV000800335 RCV001220417 RCV000685734 RCV001041429 RCV001064380 RCV000649686 RCV001853941 RCV000649688 RCV000649704 RCV000649682 RCV000649705 RCV000662899 RCV000662867 RCV000688738 RCV000703444 RCV000705193 RCV003472296 RCV000820730 RCV000822827 RCV000796451 RCV000808119 RCV000794886 RCV000989831 RCV000989833 RCV003642942 RCV002550824 RCV001862328 RCV003473578 RCV001209497 RCV001071622 RCV001066741 RCV001041486 RCV001037626 RCV001053865 RCV004033005 RCV001204901 RCV001232676 RCV001230544 RCV001231386 RCV001243973 RCV001238479 RCV001310208	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs587780104	RCV002463640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deleterious RAD51D Gene Mutation	Likely pathogenic	rs370228071, rs2142428876	RCV001838708 RCV001838814	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse midline glioma, H3 K27-altered	Likely pathogenic; Pathogenic	rs587780104	RCV003313779	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs2142411968	RCV002274289	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial ovarian cancer	Likely pathogenic; Pathogenic	rs587780105, rs370228071, rs587782695, rs730881935, rs750621215, rs2142428821, rs1555567610	RCV005600678 RCV005600727 RCV005600741 RCV005600764 RCV005600771 RCV005601974 RCV005600993	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs587780104, rs750621215, rs2142409021, rs774000286, rs2142477116, rs2509122809, rs2509124437, rs2509135035, rs753862052, rs1403784434, rs2091536198	RCV003162542 RCV003162688 RCV003164582 RCV003164583 RCV003164602 RCV003164686 RCV003164687 RCV003164688 RCV003165626 RCV003159903 RCV003166425	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs587780104, rs587780105, rs587781527, rs587781756, rs370228071, rs730881935, rs750621215, rs786202251, rs786202434, rs786203137, rs773906955, rs753862052, rs387906843, rs137886232, rs1060502959, rs750219200, rs1403784434, rs771007945, rs775365939, rs1555567649, rs1597862732, rs2091614664	RCV000586822 RCV000586494 RCV002298477 RCV002281953 RCV000722123 RCV000709443 RCV000709431 RCV004764773 RCV003398841 RCV005859340 RCV002509315 RCV001030591 RCV000589947 RCV005237406 RCV001797727 RCV003479126 RCV001030588 RCV002298684 RCV002298685 RCV001192467 RCV001030590 RCV001030589	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2142477107, rs1567726124, rs2142434009, rs587780104, rs587780105, rs2142411904, rs2142418516, rs2142429748, rs2142429702, rs587781527, rs587781756, rs370228071, rs587782695, rs587782736, rs2142428761, rs2142433436, rs2142433535, rs2509142706, rs2509142628, rs2509137893, rs2509189482, rs2142480422, rs2509135094, rs730881935, rs730881943, rs2509188899, rs2509188866, rs730882119, rs2509129015, rs2509128875, rs2509187693, rs2142418884, rs2509181607, rs2509181749, rs750621215, rs786202251, rs786202750, rs786202434, rs786202179, rs786203137, rs786202788, rs2509143271, rs2509143087, rs2509143339, rs1060502951, rs2142477116, rs2091565327, rs2509182386, rs773906955, rs876658297, rs753862052, rs1403784434, rs2509185002, rs2509124515, rs2509189531, rs2509142832, rs2509130047, rs2509188925, rs148690585, rs2509129209, rs2509130611, rs781161543, rs1057517586, rs1057521922, rs387906843, rs137886232, rs374357106, rs1060502959, rs750219200, rs1064795045, rs1555567170, rs1064795716, rs1064793952, rs1555568296, rs1555568473, rs771007945, rs775365939, rs1555568386, rs1555570266, rs1555570285, rs1555567202, rs1555567610, rs1555568293, rs1555567649, rs1555568514, rs1409088398, rs1555567586, rs1555568382, rs1555567197, rs1567726325, rs771077929, rs1567726305, rs1567727934, rs1567735277, rs1597856236, rs1597858243, rs1597858862, rs1597861744, rs1597861892, rs1597862732, rs1597863362, rs1597856297, rs1597858666, rs1597878498, rs2091604825, rs2091798919, rs2091789413, rs2091536198, rs2091788666, rs2091532104, rs2091602962	RCV005262469 RCV004064973 RCV002458538 RCV000115819 RCV000115820 RCV002423220 RCV004046192 RCV003375490 RCV004945837 RCV000129520 RCV000129970 RCV000130934 RCV000132135 RCV000132237 RCV002259251 RCV002366346 RCV002355386 RCV002320915 RCV002322628 RCV002332184 RCV002357982 RCV002335995 RCV002345126 RCV000160929 RCV000160937 RCV002351638 RCV002359859 RCV000575464 RCV002362393 RCV002362433 RCV002427939 RCV002367026 RCV002428352 RCV002417759 RCV000164406 RCV000164969 RCV000165722 RCV000165244 RCV000164875 RCV000166313 RCV000165776 RCV002439613 RCV002440151 RCV002439223 RCV002435873 RCV003164601 RCV004661589 RCV005473295 RCV000215616 RCV000221453 RCV000570770 RCV003176763 RCV003168154 RCV003176765 RCV003216440 RCV003380057 RCV003585792 RCV005475539 RCV004440063 RCV004440088 RCV006292535 RCV001024495 RCV001018078 RCV000564939 RCV000129358 RCV000130349 RCV002411492 RCV000580855 RCV000565505 RCV000560925 RCV002413319 RCV001176508 RCV000574135 RCV002341431 RCV000562807 RCV000777271 RCV000561581 RCV000566778 RCV000564788 RCV000575043 RCV000574419 RCV000565653 RCV000573435 RCV000570570 RCV000567818 RCV000569453 RCV000566535 RCV000581874 RCV000584094 RCV000583132 RCV001020511 RCV002386136 RCV001025530 RCV001026354 RCV002388341 RCV000774814 RCV000773600 RCV000776591 RCV002388442 RCV003584750 RCV001025815 RCV001024883 RCV001023165 RCV001023136 RCV001021308 RCV001016876 RCV001026370 RCV001025518 RCV001016189 RCV001027271 RCV003372948 RCV001177421 RCV001178012 RCV003584844 RCV004944922 RCV006279499 RCV004035441 RCV002348857	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary site-specific ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs1403784434	RCV001171472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited breast cancer and ovarian cancer	Likely pathogenic; Pathogenic	rs750621215, rs1057521922, rs387906843, rs1555567610	RCV006276076 RCV006250120 RCV005252697 RCV005239225	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited ovarian cancer (without breast cancer)	Likely pathogenic; Pathogenic	rs730881935, rs750621215, rs1057521922, rs387906843	RCV005237598 RCV005646770 RCV006250121 RCV005055059	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of breast	Likely pathogenic; Pathogenic	rs370228071, rs750621215, rs387906843, rs1555567202	RCV001270344 RCV001356854 RCV001357904 RCV001354651	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian carcinoma	Pathogenic	rs2142480769, rs137886232	RCV001647290 RCV002463349	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian neoplasm	Likely pathogenic; Pathogenic	rs587780104, rs750621215, rs876658297, rs753862052, rs781161543, rs387906843, rs1567728636, rs2091602962	RCV000785237 RCV002463438 RCV000785235 RCV003105831 RCV000785236 RCV002463429 RCV000785386 RCV002463462	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic kidney disease 2	Likely pathogenic; Pathogenic	rs387906843	RCV006449356	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RAD51D-related disorder	Likely pathogenic; Pathogenic	rs370228071, rs1567728649	RCV004751280 RCV003391429	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Breast and Ovarian Cancer Susceptibility	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast cancer, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast-ovarian cancer, familial, susceptibility to, 3	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer or benign tumor	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of colon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PROSTATE CANCER	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST AND/OR OVARIAN CANCER SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lynch syndrome 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAD51D-related cancer predisposition	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bloom Syndrome	Bloom Syndrome	LHGDN	12975363		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	12975363	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	10749867, 11751635, 15781618, 17942895, 21822267, 25613900, 27924006, 28418444		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	GENOMICS_ENGLAND_DG	15781618		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	30733081		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15170666, 18058226, 19347880, 20054644, 22415235, 22986143, 23372765, 26351136, 28424414, 30099541, 30111881, 30165555, 31206626		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Diseases	Breast disease	Pubtator	36315097	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23372765, 25452441, 26534844, 28424414, 30099541, 30165555, 30257646, 31206626, 31575519, 32068069, 32091585, 32107557, 32318955, 32866190, 33471974, 33471991, 33560870, 34299313, 34487234, 34672684, 34793666, 34857041, 34977446, 35084436, 35396981, 35468796, 36162851, 36162852, 36411032, 36544182, 37628581, 39226054, 40428378, 40523834	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	38255960	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30883040	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26261251, 29020732, 30640700	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35171259, 37024097	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33062672	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21822267, 22415235, 22652533, 22986143, 23372765, 24130102, 26057125, 26261251, 26351136, 28646019, 29255180, 29361001, 30111881, 30733081, 31341520		★☆☆☆☆ Found in Text Mining only
Chromosome Deletion	Chromosome Deletion	CTD_human_DG	27924006		★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22652533		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35567913	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	40282418	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36744932	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26261251		★☆☆☆☆ Found in Text Mining only
Fallopian Tube Carcinoma	Fallopian Tube Carcinoma	BEFREE	22986143		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	22986143, 31584931		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	22986143, 31584931, 35904444	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	22986143, 31584931		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	30640700	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	CLINVAR_DG	20665887, 21822267, 22986143, 23372765, 24130102, 24139550, 24240112, 25445424, 26057125, 26261251, 26659639, 26681312, 26845104, 26976419, 27083178, 28423363, 28646019		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	ORPHANET_DG	21822267		★☆☆☆☆ Found in Text Mining only
Hereditary breast and ovarian cancer syndrome	Hereditary Breast And Ovarian Cancer Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	22415235, 22652533, 23300655, 23372765, 26976419, 29255180, 29988077, 30128536, 30306255, 30623411, 32107557, 34299313, 36307613, 36544182, 37237042, 37563628, 40428378	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	29409816, 29988077		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30883040		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29202008		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15170666, 18058226, 20054644, 22415235, 22986143, 23372765, 26351136, 28424414, 30099541, 30111881, 30165555, 31206626		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21822267, 22415235, 22652533, 22986143, 23372765, 24130102, 24240112, 26057125, 26261251, 26351136, 28646019, 29255180, 29361001, 30111881, 30400647, 30733081, 31341520		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	21822267		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19347880, 21822267, 22986143, 29202008, 30836272, 31682005, 8130720		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15170666		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29202008		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	16236763, 16717288, 21111057, 21822267, 22275364, 22415235, 22986143, 23372765, 24130102, 24139550, 24240112, 25445424, 25452441, 26046366, 26057125, 26261251, 26296696, 26681312, 26720728, 26976419, 27083178, 27153395, 27273131, 27616075, 28008555, 28423363, 28646019, 28724667, 28821472, 29020732, 6329717		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	22415235, 22986143		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	BEFREE	21822267, 22652533, 23372765, 24130102, 26057125, 26261251, 26351136, 28646019, 29255180, 29361001, 29409816, 30111881, 30733081, 31341520		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	21822267		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22415235, 22652533, 22986143, 23372765, 24240112, 26057125, 26261251, 26718727, 28591191, 28888541, 29255180, 29988077, 31682005, 32107557, 33452952, 33560870, 33926482, 34672090, 34740923, 36315097, 36411032, 36544182, 37344587, 38041901, 38255960, 39445568, 40428378	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37024097	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	36544182	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	33926482, 34793666, 37024097, 40282418	Associate	★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35666082, 37733366	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33504652	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37239438, 39206620, 40282418	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25452441, 33471974, 35084436	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30165555		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40282418	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24485306, 36380687	Associate	★☆☆☆☆ Found in Text Mining only