RAD51C (RAD51 paralog C)

Gene

• Entrez ID: 5889
• Gene name: RAD51 paralog C
• Gene symbol: RAD51C
• Synonyms (NCBI Gene): BROVCA3, FANCO, R51H3, RAD51L2
• Chromosome: 17
• Chromosome location: 17q22
• Summary: This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RA

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140804406	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs145310733	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs147241704	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs149228565	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant
rs200293302	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs201079501	A>G,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs201529791	T>C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs267606997	G>A,C,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs267606998	G>T	Risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs267606999	G>C	Risk-factor, likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs377586976	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant
rs387907159	C>A,G,T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs587780257	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant
rs587780259	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587781490	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs587781680	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs587782036	G>A,C	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs587782170	AA>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs587782286	AG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs587782533	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs587782699	->TA	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs587782702	G>T	Likely-pathogenic, risk-factor	Intron variant, genic downstream transcript variant
rs587782818	C>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs727503760	AGTA>-	Likely-pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant, splice donor variant
rs730881931	T>C	Pathogenic-likely-pathogenic, likely-pathogenic	Stop lost, non coding transcript variant, splice donor variant, terminator codon variant
rs730881939	->A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs730881940	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs746870368	G>A,T	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs746993675	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs748589398	A>G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs754367349	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs758847241	A>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs760235677	G>A,T	Likely-pathogenic, pathogenic, risk-factor	Splice donor variant, genic downstream transcript variant
rs765143155	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs767796996	G>A,C	Likely-pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs768793789	->C	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant
rs770637624	C>T	Pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs778157321	T>A,C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs786201909	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs786202563	ACCAA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs786203945	CT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs876658644	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs876659497	AT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs975635861	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs1057517812	CA>-	Likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1057519355	G>-	Risk-factor, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1060502588	C>G,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1060502601	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1060502605	ATCA>-,ATCAATCA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064795774	T>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1327086366	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs1413872299	G>C,T	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1466185247	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1555593450	TCA>-	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555593457	A>G	Likely-pathogenic	Splice acceptor variant
rs1555593458	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1555593521	->AATG	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1555593553	T>C,G	Likely-benign, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant, synonymous variant
rs1555593616	A>T	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1555593670	C>T	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1555593715	T>A	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1555594590	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1555594617	T>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1555594861	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1555594864	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1555594912	AAGG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1555597094	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1555597132	TATT>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555599090	G>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555599288	G>-	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555602141	TTGTTCCTGC>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555602159	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1567785872	G>C,T	Uncertain-significance, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, stop gained, non coding transcript variant
rs1567786326	C>G	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1567786509	AGAAATTTG>C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567789009	T>A	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1567799818	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1567799943	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1598455598	->AT	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1598460116	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs1598460178	AG>T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs1598460710	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs1598504016	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000898	hsa-miR-15a-5p	Microarray	18362358
MIRT000897	hsa-miR-16-5p	Microarray	18362358
MIRT029315	hsa-miR-26b-5p	Microarray	19088304
MIRT048689	hsa-miR-99a-5p	CLASH	23622248
MIRT048598	hsa-miR-100-5p	CLASH	23622248
MIRT1288145	hsa-miR-1200	CLIP-seq
MIRT1288146	hsa-miR-3074-5p	CLIP-seq
MIRT1288147	hsa-miR-4477a	CLIP-seq
MIRT1288148	hsa-miR-4517	CLIP-seq
MIRT1288149	hsa-miR-1298	CLIP-seq
MIRT1288150	hsa-miR-4436b-5p	CLIP-seq
MIRT1288151	hsa-miR-4477b	CLIP-seq
MIRT1288152	hsa-miR-513a-3p	CLIP-seq
MIRT1288153	hsa-miR-513b	CLIP-seq
MIRT1288154	hsa-miR-548ag	CLIP-seq
MIRT1288155	hsa-miR-548ai	CLIP-seq
MIRT1288156	hsa-miR-648	CLIP-seq
MIRT2085308	hsa-miR-4643	CLIP-seq
MIRT2085309	hsa-miR-466	CLIP-seq
MIRT2085310	hsa-miR-4789-3p	CLIP-seq
MIRT2457689	hsa-miR-329	CLIP-seq
MIRT2457690	hsa-miR-362-3p	CLIP-seq
MIRT2457691	hsa-miR-3941	CLIP-seq
MIRT2457692	hsa-miR-4282	CLIP-seq
MIRT2457693	hsa-miR-603	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:0000707	Process	Meiotic DNA recombinase assembly	IBA
GO:0000722	Process	Telomere maintenance via recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	23149936
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9469824
GO:0005515	Function	Protein binding	IPI	9469824, 11751635, 11842113, 16395335, 21965664, 24005329, 24141787, 26496610, 28514442, 28864920, 32296183, 33961781, 34591612, 35849344
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	12966089, 16215984
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9469824
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IBA
GO:0005657	Component	Replication fork	IDA	20207730
GO:0005737	Component	Cytoplasm	IDA	16215984
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	20413593
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IDA	19451272
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9469824
GO:0006310	Process	DNA recombination	IDA	19451272
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	TAS	9469824
GO:0006974	Process	DNA damage response	IEA
GO:0007062	Process	Sister chromatid cohesion	ISS
GO:0007066	Process	Female meiosis sister chromatid cohesion	IEA
GO:0007131	Process	Reciprocal meiotic recombination	IBA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0007141	Process	Male meiosis I	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IBA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IEA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IMP	14716019
GO:0010971	Process	Positive regulation of G2/M transition of mitotic cell cycle	IMP	23108668
GO:0030054	Component	Cell junction	IDA
GO:0033063	Component	Rad51B-Rad51C-Rad51D-XRCC2 complex	IBA
GO:0033063	Component	Rad51B-Rad51C-Rad51D-XRCC2 complex	IDA	11751635
GO:0033065	Component	Rad51C-XRCC3 complex	IBA
GO:0033065	Component	Rad51C-XRCC3 complex	IDA	11751635
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16215984
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

Other IDs

• MIM: 602774
• HGNC: 9820
• e!Ensembl: ENSG00000108384

Protein

• UniProt ID: O43502
• Protein name: DNA repair protein RAD51 homolog 3 (R51H3) (RAD51 homolog C) (RAD51-like protein 2)
• Protein function: Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD5
• PDB: 8FAZ, 8GBJ, 8OUY, 8OUZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08423	Rad51	31 → 349	Rad51	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in a variety of tissues, with highest expression in testis, heart muscle, spleen and prostate.
• Sequence:

  MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALET
  LQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKT
  TEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHL
  QLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVI
  VDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPA
  LGESWGHAATIRLIFHWDRKQRLATLYKSPSQKECTVLFQIKPQGFRDTVVTSACSLQTE
  GSLSTRKRSRDPEEEL

• Sequence length: 376

Pathways

KEGG:

Homologous recombination
Fanconi anemia pathway

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
Factors involved in megakaryocyte development and platelet production

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	rs1413872299, rs587781410, rs587781490, rs587781995, rs587782702, rs786201909, rs387907159, rs2047958236, rs2048273755	RCV003492253 RCV001271004 RCV001271006 RCV001271008 RCV001798459 RCV001798584 RCV003149575 RCV001271005 RCV001271007	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast carcinoma	Pathogenic; Likely pathogenic	rs2143961266, rs200293302, rs770637624	RCV001579300 RCV001554248 RCV001554261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic	rs730881939, rs2047814459	RCV004804701 RCV001090199	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 3	Pathogenic; Likely pathogenic	rs1233795152, rs2143746162, rs2143797889, rs2143853617, rs2143963184, rs2143670048, rs1555593939, rs2143748292, rs1413872299, rs2143798753, rs201529791, rs2143800709, rs1567794476, rs876658644, rs1555599090, rs2143853790, rs1567799952, rs2143930413, rs2144044105, rs2143849978, rs2143742992, rs2509312694, rs587781410, rs587780259, rs2143717943, rs587780840, rs2143721294, rs2143961567, rs2143725868, rs2143747561, rs2143930383, rs1555594617, rs2143677258, rs587781287, rs200293302, rs587781490, rs587781995, rs587782036, rs587782170, rs587782528, rs587782702, rs587782818, rs2143854758, rs2143744121, rs2509283705, rs1598460983, rs730881942, rs730881939, rs730881940, rs730881931, rs730881941, rs730881933, rs2143853726, rs2509274346, rs2509274419, rs786203945, rs786202563, rs786201909, rs587782286, rs770637624, rs2509344663, rs2509299416, rs779582317, rs2143746667, rs2509262078, rs267606998, rs267606999, rs757128712, rs767796996, rs876659497, rs760235677, rs876658652, rs876659874, rs759292615, rs2509313550, rs878855177, rs746870368, rs2509275155, rs1057517641, rs2509344172, rs2509283581, rs2509344483, rs2509276440, rs2143929613, rs2509363942, rs2509344581, rs1479360028, rs2509260903, rs2509299617, rs2509282144, rs2509364078, rs1567817431, rs2509275021, rs1567786232, rs1555599274, rs2509336795, rs2509281199, rs2509276500, rs2509274053, rs2509262234, rs1413186293, rs2509281642, rs2509299426, rs2509276286, rs2509275911, rs2048273367, rs1555593587, rs2509281686, rs2509275252, rs2509363884, rs2048502560, rs2509300481, rs2509300604, rs2509282138, rs2509300511, rs2509336958, rs2509343956, rs1057517812, rs1060502605, rs387907159, rs1057519355, rs1060502601, rs774586107, rs768793789, rs754367349, rs1555594864, rs1555605074, rs1555602141, rs1555593616, rs746993675, rs1555594912, rs1327086366, rs145310733, rs1555599288, rs1555593450, rs1555597132, rs1466185247, rs1555605103, rs748589398, rs1555594590, rs1555602159, rs1555603056, rs1555597094, rs1555594861, rs1567782936, rs1567786509, rs1567785872, rs1060502588, rs1567817516, rs1598448896, rs1598460178, rs1598449660, rs1598455598, rs1555593553, rs1598460116, rs1598460710, rs1598535096, rs2047807048, rs1567785888, rs2047958236, rs2047940629, rs2048021234, rs2047953067, rs2047959481	RCV004037676 RCV001779161 RCV003463007 RCV004037683 RCV004037654 RCV001779190 RCV001779193 RCV001779198 RCV001779199 RCV001779202 RCV001779203 RCV001779204 RCV001779205 RCV001779206 RCV001779207 RCV001779209 RCV001779173 RCV001779211 RCV001779216 RCV001780383 RCV001786499 RCV001786505 RCV000456115 RCV000456123 RCV003464307 RCV004019712 RCV003453830 RCV004039889 RCV004044356 RCV003336474 RCV003464227 RCV004044360 RCV005025534 RCV000501924 RCV000576579 RCV003467108 RCV001095710 RCV000576619 RCV002505113 RCV000410098 RCV000007225 RCV000763015 RCV002290334 RCV004049900 RCV004053726 RCV003464470 RCV000024266 RCV000409268 RCV002492641 RCV000763014 RCV003462105 RCV003467270 RCV004055352 RCV004063353 RCV005248771 RCV003468811 RCV004019977 RCV003467296 RCV003462204 RCV000576766 RCV003464564 RCV003465851 RCV003468897 RCV004068519 RCV003455657 RCV000007226 RCV000007227 RCV003469087 RCV002467443 RCV001778807 RCV002503867 RCV000024267 RCV004020658 RCV000662608 RCV005425836 RCV003140308 RCV004020887 RCV000409098 RCV004020936 RCV004020924 RCV004330305 RCV003315484 RCV003316934 RCV003450514 RCV003463442 RCV003471780 RCV003463443 RCV003463444 RCV003471781 RCV003450528 RCV003450529 RCV003452615 RCV004368981 RCV004369018 RCV005422334 RCV005425200 RCV004437811 RCV004439929 RCV004440027 RCV004440046 RCV004440047 RCV004440124 RCV004440206 RCV004440215 RCV004440220 RCV004440233 RCV004440241 RCV004440256 RCV004440259 RCV004440274 RCV004440306 RCV004440313 RCV004440332 RCV004440348 RCV004442445 RCV004442481 RCV004442486 RCV004442502 RCV004442516 RCV004442528 RCV004442534 RCV004442573 RCV004442593 RCV004442659 RCV000411364 RCV004022156 RCV003463922 RCV003449139 RCV000024264 RCV000024265 RCV000576324 RCV004568045 RCV003493581 RCV003334388 RCV000576452 RCV004023612 RCV003470763 RCV003459395 RCV003459371 RCV003459268 RCV003459370 RCV004024465 RCV004024458 RCV003153738 RCV003459306 RCV003465249 RCV003465212 RCV000755025 RCV004024504 RCV004024457 RCV004569284 RCV003470841 RCV003459303 RCV004024464 RCV003459305 RCV003451314 RCV003465411 RCV003465427 RCV004026257 RCV004026720 RCV004025057 RCV004027258 RCV004027301 RCV002501009 RCV004027345 RCV003155961 RCV003461114 RCV004030308 RCV003461344 RCV004030368 RCV005866738 RCV004030841 RCV005427496 RCV004030972 RCV003455176 RCV002290581 RCV004031647 RCV004033018 RCV004033379 RCV004033405 RCV004033484 RCV004033846 RCV004033176 RCV004783945	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma of colon	Likely pathogenic	rs1555593450	RCV001355841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse midline glioma, H3 K27M-mutant	Likely pathogenic; Pathogenic	rs1555599090	RCV006254275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial carcinoma	Pathogenic	rs587781490	RCV003128148	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial ovarian cancer	Likely pathogenic; Pathogenic	rs587780259, rs587782702, rs730881933, rs267606999, rs1060502601, rs746993675, rs1413872299	RCV005600690 RCV005600742 RCV005600763 RCV005600616 RCV005600933 RCV005600996 RCV005600989	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial ovarian carcinoma	Likely pathogenic	rs2047959481	RCV001291630	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group O	Pathogenic; Likely pathogenic	rs2509275974, rs1233795152, rs2143746162, rs2143797889, rs2143853617, rs2143961181, rs2143963184, rs201529791, rs1567794476, rs876658644, rs1555599090, rs2143961536, rs2143961266, rs587781410, rs587780259, rs2143852568, rs2143801795, rs2143746939, rs730881940, rs2143717943, rs2144044910, rs2143746632, rs587780840, rs2143721294, rs2143961567, rs2143725868, rs775482687, rs2143747561, rs2143930383, rs1555594617, rs2143801496, rs1363104728, rs2143749861, rs2143677258, rs2047940709, rs2143747219, rs587781287, rs200293302, rs587781490, rs587781995, rs587782036, rs587782170, rs587782528, rs587782533, rs587782699, rs587782702, rs587782818, rs2047954401, rs730881942, rs730881939, rs730881931, rs730881941, rs730881933, rs2143853726, rs2509313565, rs2509274346, rs786203945, rs786202563, rs786201909, rs587782286, rs770637624, rs2509364267, rs2144060112, rs2509312994, rs2509282682, rs2509299416, rs2509337492, rs2509273792, rs1455096561, rs779582317, rs2143746667, rs2509262078, rs2143963488, rs2509261130, rs267606998, rs267606999, rs757128712, rs767796996, rs876659497, rs760235677, rs876658652, rs876659874, rs759292615, rs2509313550, rs878855177, rs2509274733, rs2509262340, rs2143929613, rs1479360028, rs2509299617, rs1598448896, rs2509282144, rs2509261498, rs2509364078, rs2509261635, rs1567817431, rs2509260589, rs2509369753, rs1567799952, rs2509275801, rs1567786232, rs1413186293, rs2509336958, rs2509343956, rs1057517641, rs1057517812, rs1060502605, rs387907159, rs1060502601, rs774586107, rs768793789, rs754367349, rs1555603011, rs1555593715, rs1555594864, rs1555605074, rs1555602141, rs1555593616, rs746993675, rs1555594912, rs1327086366, rs145310733, rs1555599288, rs1555593450, rs1413872299, rs1555605103, rs748589398, rs1555593670, rs1555594590, rs1555602159, rs1555603056, rs1555591851, rs1555597094, rs1567782936, rs1567789009, rs1567786509, rs1567782755, rs1567785872, rs1567799943, rs1567817415, rs1060502588, rs1567799818, rs1598460178, rs1598460983, rs1598504016, rs1598449660, rs1598455598, rs1555593553, rs1598460710, rs2047807048, rs1567785888, rs2047958236, rs2048272509, rs2048274544, rs2047940629, rs2048021234, rs2048269550, rs2048893092, rs1330937621, rs2048020646, rs2047953067, rs765304898	RCV003508363 RCV001385802 RCV001381786 RCV001385785 RCV001386782 RCV001388496 RCV001381906 RCV001859338 RCV001882538 RCV002554101 RCV001859339 RCV001872025 RCV001866089 RCV000197293 RCV000234445 RCV001924259 RCV001965418 RCV001938461 RCV001950820 RCV001946736 RCV001893294 RCV001981731 RCV000123379 RCV001996932 RCV001905455 RCV002000168 RCV001993176 RCV002000123 RCV001920731 RCV002002472 RCV001913077 RCV001953507 RCV001963216 RCV001959125 RCV001963273 RCV001907825 RCV000230603 RCV000203684 RCV000648252 RCV000526987 RCV000204135 RCV000459126 RCV000196217 RCV001849944 RCV001382684 RCV000225845 RCV000458376 RCV003099445 RCV000205375 RCV000206050 RCV000465754 RCV000467500 RCV000701513 RCV000698614 RCV003507430 RCV003099762 RCV003094879 RCV005098107 RCV000456496 RCV002517623 RCV000529934 RCV001385150 RCV000233212 RCV003091950 RCV002770456 RCV002825409 RCV002865996 RCV002847217 RCV002880530 RCV002918071 RCV002967710 RCV000199789 RCV003000180 RCV003005695 RCV003034351 RCV003030415 RCV003507247 RCV000648269 RCV000648240 RCV000458645 RCV001382685 RCV002503867 RCV001225213 RCV000229896 RCV000541903 RCV000232127 RCV003618049 RCV000229481 RCV000226369 RCV005100994 RCV005356373 RCV000473356 RCV005100214 RCV005100134 RCV003508081 RCV003508139 RCV003508211 RCV003508212 RCV003508478 RCV003618177 RCV003618432 RCV003617411 RCV003617477 RCV003617426 RCV003617473 RCV005104631 RCV005104632 RCV005104641 RCV005104642 RCV000410256 RCV001208604 RCV000477455 RCV000465331 RCV000205139 RCV000471345 RCV000467585 RCV000468007 RCV000576215 RCV000576452 RCV000810547 RCV000576233 RCV000546881 RCV000576180 RCV000576176 RCV000535884 RCV003617833 RCV003507290 RCV002527999 RCV000812734 RCV000804972 RCV000817379 RCV001858216 RCV001068269 RCV001036845 RCV000648242 RCV001867866 RCV005357656 RCV001047716 RCV000701832 RCV000648253 RCV000648231 RCV001861680 RCV000687163 RCV000701329 RCV005208598 RCV000698142 RCV000690554 RCV000989963 RCV000989966 RCV001067488 RCV000797010 RCV001873162 RCV001063152 RCV000809585 RCV000799286 RCV000799274 RCV000989964 RCV001860653 RCV001049796 RCV001860781 RCV001227076 RCV001036160 RCV001043378 RCV001067329 RCV001056672 RCV001047371 RCV001052617 RCV005394783 RCV001862971 RCV001378839 RCV001224684 RCV001221204 RCV001212223 RCV001207027 RCV001214672 RCV001232717 RCV001245831 RCV001242718	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic; Likely pathogenic	rs2143853726, rs770637624, rs1555593458, rs2509262182, rs2509344663, rs779582317, rs760235677	RCV003164539 RCV003162706 RCV003164585 RCV003164630 RCV003164692 RCV003165464 RCV003163505	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs1555599090, rs587781410, rs587780259, rs200293302, rs587781995, rs587782170, rs587782528, rs730881942, rs730881939, rs730881931, rs786201909, rs587782286, rs770637624, rs779582317, rs267606998, rs767796996, rs876659874, rs760235677, rs387907159, rs1060502601, rs1555602141, rs1327086366, rs1555594861, rs1598449660, rs1598455598, rs2047959481	RCV002298949 RCV001194265 RCV001194262 RCV000590531 RCV002271416 RCV004800295 RCV000589795 RCV000587817 RCV000781788 RCV002307418 RCV001194263 RCV004782272 RCV000709509 RCV001194258 RCV001797586 RCV000709503 RCV005895047 RCV003317171 RCV004576911 RCV000589098 RCV000709516 RCV000781797 RCV003323660 RCV001030585 RCV002271607 RCV001199931 RCV003482162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer	Likely pathogenic; Pathogenic	rs587781410	RCV003492508	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2143853617, rs1567799952, rs2143961536, rs587781410, rs587780259, rs587780840, rs2143721294, rs2143961567, rs1555594617, rs587781287, rs200293302, rs587781490, rs587781995, rs587782036, rs587782170, rs587782528, rs587782533, rs587782699, rs587782702, rs587782818, rs2047954401, rs2143744121, rs2509283705, rs1598460983, rs2509281880, rs2509283244, rs2509299426, rs730881942, rs730881939, rs730881940, rs730881931, rs730881941, rs730881933, rs2509283453, rs2143853726, rs2509337177, rs2509313565, rs2509337046, rs2509262385, rs2144044910, rs2509262617, rs2509274346, rs2509273847, rs2509273650, rs2509274419, rs786203945, rs786202563, rs786201909, rs587782286, rs770637624, rs876658197, rs2509344663, rs779582317, rs267606999, rs757128712, rs730881930, rs767796996, rs876659497, rs876658644, rs760235677, rs876658652, rs876659874, rs759292615, rs2509274733, rs2509262340, rs746870368, rs2509275155, rs2509267906, rs864622343, rs1598467175, rs2509260903, rs2509299617, rs2509282144, rs1555593553, rs2509283109, rs1567786232, rs1555599274, rs2509336958, rs1429436465, rs1555593767, rs2509276003, rs1057517641, rs1057517812, rs1060502605, rs387907159, rs1057519355, rs1060502601, rs774586107, rs768793789, rs1064795774, rs754367349, rs1555593458, rs1555599090, rs1555603011, rs1555594864, rs1555605074, rs1555602141, rs1555593616, rs746993675, rs1555594912, rs1327086366, rs145310733, rs1555599288, rs1555593450, rs1555593521, rs1413872299, rs1555597132, rs1466185247, rs1555605103, rs748589398, rs1555593670, rs1555594590, rs1555602159, rs1555603056, rs1555591851, rs1567786509, rs1567785872, rs1567799943, rs1567786326, rs1060502588, rs1567799818, rs1598448896, rs1598460178, rs1598504016, rs1598449660, rs1598455598, rs1598460116, rs1555594714, rs1598460710, rs1555602158, rs1598535096, rs2047807048, rs2047958236, rs2047811523, rs2047940629, rs2047956880, rs2048021234, rs1555593939, rs1330937621	RCV002420863 RCV005401837 RCV001524242 RCV000116170 RCV000116178 RCV002371958 RCV002458868 RCV003164159 RCV003170169 RCV000128973 RCV000129056 RCV000129454 RCV000130408 RCV000130492 RCV000130769 RCV000131716 RCV000131735 RCV000132139 RCV000132144 RCV000132392 RCV002451895 RCV002330102 RCV002347571 RCV002347681 RCV002335070 RCV002347176 RCV002360433 RCV000160936 RCV000160933 RCV000569930 RCV000221514 RCV000570045 RCV001183046 RCV002351723 RCV002419116 RCV002373666 RCV002412231 RCV002449643 RCV002450030 RCV002376036 RCV002376828 RCV002394554 RCV002457870 RCV002417760 RCV002417163 RCV002450328 RCV000167466 RCV000165425 RCV000164432 RCV000166223 RCV000165947 RCV002453124 RCV005473168 RCV000570941 RCV000129800 RCV000216860 RCV000213453 RCV000217463 RCV000214716 RCV000218961 RCV000221081 RCV000221587 RCV000221970 RCV000220031 RCV003298308 RCV003176622 RCV003168021 RCV004943822 RCV000575723 RCV003296764 RCV003296766 RCV003379895 RCV003379902 RCV004943048 RCV004368982 RCV004661677 RCV003585781 RCV003585785 RCV006276468 RCV005727166 RCV004661831 RCV004522572 RCV004522579 RCV004522580 RCV002392935 RCV002348128 RCV005470430 RCV001525044 RCV000219684 RCV001015159 RCV000775758 RCV000571578 RCV002339168 RCV002446940 RCV000566450 RCV000581899 RCV006277868 RCV000574581 RCV002376963 RCV002350330 RCV000568757 RCV000569137 RCV000573983 RCV000563566 RCV000573580 RCV000562942 RCV000566673 RCV000575367 RCV000566223 RCV000575024 RCV000574253 RCV000562532 RCV000568747 RCV000569000 RCV000568386 RCV000561624 RCV000570592 RCV000564536 RCV000569318 RCV000571657 RCV000584392 RCV002343334 RCV001805783 RCV001020761 RCV002422492 RCV000772310 RCV000771408 RCV000773940 RCV000773859 RCV000777004 RCV000777161 RCV004028673 RCV002332619 RCV003372854 RCV001805958 RCV001010939 RCV001014886 RCV001014967 RCV001022337 RCV001023014 RCV001023701 RCV001018724 RCV001009663 RCV001011695 RCV005470577 RCV002355089 RCV001181487 RCV001178191 RCV001190335 RCV001188165 RCV001190352 RCV003163504 RCV002322030 RCV002348676	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary site-specific ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs587781410, rs587782702	RCV001171470 RCV001171471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited ovarian cancer (without breast cancer)	Likely pathogenic; Pathogenic	rs200293302, rs587782528, rs730881942, rs1060502601	RCV004691760 RCV004808593 RCV005237599 RCV006443450	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome	Likely pathogenic; Pathogenic	rs587780259	RCV005625295	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of breast	Pathogenic	rs2144044038, rs587782818, rs730881940	RCV001355171 RCV001358380 RCV001358597	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian neoplasm	Likely pathogenic; Pathogenic	rs587780259, rs587781490, rs730881942, rs730881939, rs760235677, rs1057519355, rs768793789, rs1567785872, rs1567817516, rs2047807048	RCV000785234 RCV000785447 RCV001195009 RCV000785446 RCV001195027 RCV001195013 RCV000785233 RCV000785445 RCV000785444 RCV001195008	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1567817516	RCV005897440	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RAD51C-related cancer predisposition	Likely pathogenic; Pathogenic	rs730881942, rs387907159	RCV006255157 RCV006249564	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RAD51C-related disorder	Likely pathogenic; Pathogenic	rs587780259, rs200293302, rs587782170, rs587782702, rs730881939, rs786203945, rs876659874, rs2509299617, rs387907159, rs1555593670, rs1598455598, rs2047940629	RCV004528814 RCV000778126 RCV004734675 RCV004544303 RCV005250027 RCV004535139 RCV004532797 RCV004736343 RCV004734529 RCV004527660 RCV004536050 RCV004726923	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus cancer	Likely pathogenic; Pathogenic	rs587781410	RCV003128147	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs774586107	RCV005899483	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Breast and Ovarian Cancer Susceptibility	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast-ovarian cancer, familial, susceptibility to, 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi anemia	Benign; Likely benign	ClinVar CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FANCONI ANEMIA, COMPLEMENTATION GROUP O	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST AND/OR OVARIAN CANCER SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited breast cancer and ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34367470	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	27296891	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
bilateral breast cancer	Breast Cancer	BEFREE	23117857		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	20400964, 21980511, 22167183, 22451500, 22538716, 25292187, 28418444		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	30733081, 30949688		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	20400964, 28825726		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	BEFREE	20428093, 20697805, 20952512, 21409391, 21750962, 21990120, 22167183, 22370629, 22383991, 22476429, 22725699, 23176254, 23747889, 24359560, 25086635, 25154786, 25343521, 25470109, 26351136, 26406419, 27464795, 27622768, 27753535, 28418444, 28796317, 29731842, 30099541, 30949688, 31206626, 31446535		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	22370629, 22383991, 22476429, 22843497, 23021409, 24139550, 24359560, 25452441, 26534844, 26824983, 26873923, 28419251, 28796317, 28825726, 28864920, 28891274, 29325031, 30257646, 30947698, 30949688, 31206626, 31300551, 31905201, 33277227, 33471974, 33471991, 33560870, 34299313, 34487234, 34672684, 34857041, 34977446, 35084436, 35396981, 35468796, 36162851, 36162852, 36315097, 36411032, 37096751, 37253112, 39684352, 40428378, 40508121, 40523834	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32091585	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27465554	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26820992, 29233532		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38297111	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24504028, 26261251, 29020732, 30640700, 36162851, 36210504	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20400964, 20697805, 20952512, 21537932, 21616938, 21750962, 21822267, 21980511, 21990120, 22476429, 22725699, 22829014, 23117857, 23176254, 24359560, 24504028, 24800917, 25086635, 25292178, 25343521, 25470109, 26057125, 26261251, 26718727, 26740214, 27622768, 27753535, 28796317, 28829762, 29233532, 29361001, 30733081, 30949688, 30979843, 31782267		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23176254, 27296891		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	25669972, 27296891		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25669972, 27296891, 35567913, 35881546	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	40282418	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital atresia of rectum	Congenital Atresia Of Rectum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	12000837, 25292178		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24504028, 26261251		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	19686080, 20400963, 22167183, 28297620		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fanconi anemia	Fanconi Anemia	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fanconi Anemia	Fanconi Anemia	BEFREE	20400963, 20428093, 20713514, 20952512, 21616938, 21750962, 22167183, 22383991, 22725699, 22829014, 24141787, 24989076, 25154786, 26354865, 28544907, 29278735, 30793218		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fanconi Anemia	Fanconi Anemia	CTD_human_DG	20400963		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fanconi Anemia	Fanconi anemia	Pubtator	22383991, 23620800, 24141787, 27296891, 31584931, 37031326, 37974167, 39299233	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	20400963, 20428093, 20713514, 20952512, 21616938, 21750962, 22167183, 22383991, 22725699, 24141787, 24989076, 25154786, 26354865, 28544907, 29278735, 30793218		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP O	Fanconi Anemia	CLINVAR_DG	12966089, 20400963, 20400964, 21537932, 21616938, 21750962, 21990120, 22006311, 22167183, 22451500, 22538716, 22725699, 24139550, 24141787, 24315737, 24549055, 24800917, 24993905, 25086635, 25292178, 25452441, 25980754, 26057125, 26261251, 26270727, 26354865, 26681312, 26687385, 26689913, 26720728, 26740214, 26822949, 26824983, 26848151, 27328445, 27433846, 27616075, 27622768, 27913932, 28905878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP O	Fanconi Anemia	GENOMICS_ENGLAND_DG	19686080, 20400963, 22167183, 22232082, 29278735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP O	Fanconi Anemia	UNIPROT_DG	20400963, 24141787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP O	Fanconi Anemia	CLINGEN_DG	20400963, 22167183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP O	Fanconi Anemia	BEFREE	29278735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP O	Fanconi Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35406779	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	28024868, 30640700	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24631219		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24315737	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	38297111	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	ORPHANET_DG	20400964, 21990120		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	CLINVAR_DG	20400964, 21616938, 21990120, 22451500, 22538716, 22810696, 23117857, 24993905, 25086635, 25154786, 25470109, 26261251, 26681312, 26740214, 26848151, 26976419, 27230542, 28829762, 29409816, 29922827		★☆☆☆☆ 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	BEFREE	20697805, 21750962, 21990120, 25086635, 25343521, 25470109, 26406419, 29409816, 29988077, 31782267		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21990120, 22370629, 22476429, 23176254, 23239986, 23300655, 24139550, 24141787, 24315737, 24504028, 24549055, 25343521, 26976419, 27753535, 28796317, 29255180, 29988077, 30623411, 30927251, 31782267, 31882575, 33646313, 34299313, 35451682, 36307613, 37253112, 37563628, 39299233, 40428378	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	27443514, 27734215		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26689913	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	BEFREE	29278735		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	27443514, 27734215		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24631219		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	20400964, 28825726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20428093, 20697805, 20952512, 21409391, 21750962, 21990120, 22167183, 22370629, 22383991, 22476429, 22725699, 23176254, 23747889, 24359560, 25086635, 25154786, 25343521, 25470109, 26351136, 26406419, 26820992, 27464795, 27622768, 27753535, 28418444, 28796317, 28825726, 29731842, 30099541, 30949688, 31206626, 31446535		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20400964, 20697805, 20952512, 21537932, 21616938, 21750962, 21822267, 21980511, 21990120, 22167183, 22451500, 22476429, 22725699, 22829014, 23117857, 23176254, 24240112, 24359560, 24800917, 25086635, 25292178, 25343521, 25470109, 26057125, 26261251, 26406419, 26718727, 26740214, 27622768, 27753535, 28796317, 28829762, 29233532, 29361001, 30733081, 30949688, 30979843, 31782267		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	20400964		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	HPO_DG			★☆☆☆☆ 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	20400964, 20952512, 21537932, 22370629, 23176254, 23512992, 24141787, 24315737, 24359560, 25292178, 27622768, 29020732, 29731842, 30949688		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	20400964, 28825726		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	20400964, 28825726		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30949688		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	20400964, 28825726		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11034067, 20952512, 22167183, 23512992, 25669972, 26820992, 27464795, 27614696, 27753535, 29659014		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	12442171, 20400963, 20400964, 21447597, 21537932, 21616938, 21990120, 22006311, 22167183, 22451500, 22538716, 22725699, 23117857, 23176254, 23438602, 23500037, 24139550, 24141787, 24240112, 24315737, 24549055, 24800917, 24993905, 25086635, 25154786, 25292178, 25452441, 25470109, 25525159, 25980754, 26057125, 26261251, 26354865, 26678223, 26681312, 26720728, 26740214, 26822949, 26824983, 26848151, 27433846, 27616075, 27621404, 27622768, 28024868, 28281021, 28588062, 28829762, 28905878, 29054568		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36493725	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	26718727, 29233532		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20400964, 20697805, 20952512, 21537932, 21616938, 21750962, 21822267, 21980511, 21990120, 22476429, 22725699, 22829014, 23117857, 23176254, 24359560, 24800917, 25086635, 25292178, 25343521, 25470109, 26057125, 26261251, 26740214, 27622768, 27753535, 28796317, 28829762, 29361001, 30733081, 30949688, 30979843, 31782267		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	20400964		★★★★★ 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	21990120, 22843497, 23047548, 23176254, 24240112, 24359560, 24504028, 25343521, 26057125, 26261251, 26406958, 26718727, 26873923, 28418444, 28829762, 28888541, 29255180, 29988077, 30949688, 31682005, 33560870, 33926482, 34672090, 34740923, 36099300, 36210504, 36232793, 36411032, 37253112, 37344587, 37488098, 38041901, 39299233, 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	29961768, 34620795, 39256447	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	40282418	Associate	★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23176254, 29659569, 30587560, 33107155, 34388386	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	33319852	Associate	★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29351916		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	22843497		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24315737	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24315737		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26689913, 28024868, 31127894, 36484990, 40282418	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	23666239		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	33513287	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26824983, 28085182, 30949688, 33471974, 34488828, 35084436, 36315097	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40282418	Stimulate	★☆☆☆☆ Found in Text Mining only