RAD51B (RAD51 paralog B)

Gene

• Entrez ID: 5890
• Gene name: RAD51 paralog B
• Gene symbol: RAD51B
• Synonyms (NCBI Gene): R51H2, RAD51L1, REC2
• Chromosome: 14
• Chromosome location: 14q24.1
• Summary: The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the fa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28908468	C>G	Drug-response	Intron variant, genic downstream transcript variant, coding sequence variant, missense variant
rs764896402	G>A	Likely-pathogenic	5 prime UTR variant, synonymous variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041780	hsa-miR-484	CLASH	23622248
MIRT449236	hsa-miR-4506	PAR-CLIP	22100165
MIRT449234	hsa-miR-4496	PAR-CLIP	22100165
MIRT449233	hsa-miR-6871-5p	PAR-CLIP	22100165
MIRT449232	hsa-miR-766-5p	PAR-CLIP	22100165
MIRT449231	hsa-miR-7106-5p	PAR-CLIP	22100165
MIRT449230	hsa-miR-149-3p	PAR-CLIP	22100165
MIRT449229	hsa-miR-4728-5p	PAR-CLIP	22100165
MIRT449228	hsa-miR-6785-5p	PAR-CLIP	22100165
MIRT449227	hsa-miR-6883-5p	PAR-CLIP	22100165
MIRT449226	hsa-miR-6799-5p	PAR-CLIP	22100165
MIRT449225	hsa-miR-569	PAR-CLIP	22100165
MIRT449224	hsa-miR-1273h-5p	PAR-CLIP	22100165
MIRT449222	hsa-miR-30b-3p	PAR-CLIP	22100165
MIRT449223	hsa-miR-3689a-3p	PAR-CLIP	22100165
MIRT449221	hsa-miR-3689b-3p	PAR-CLIP	22100165
MIRT449220	hsa-miR-3689c	PAR-CLIP	22100165
MIRT449219	hsa-miR-6779-5p	PAR-CLIP	22100165
MIRT449218	hsa-miR-6780a-5p	PAR-CLIP	22100165
MIRT449217	hsa-miR-2053	PAR-CLIP	22100165
MIRT449215	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT449236	hsa-miR-4506	PAR-CLIP	22100165
MIRT449234	hsa-miR-4496	PAR-CLIP	22100165
MIRT449233	hsa-miR-6871-5p	PAR-CLIP	22100165
MIRT449232	hsa-miR-766-5p	PAR-CLIP	22100165
MIRT449231	hsa-miR-7106-5p	PAR-CLIP	22100165
MIRT449230	hsa-miR-149-3p	PAR-CLIP	22100165
MIRT449229	hsa-miR-4728-5p	PAR-CLIP	22100165
MIRT449228	hsa-miR-6785-5p	PAR-CLIP	22100165
MIRT449227	hsa-miR-6883-5p	PAR-CLIP	22100165
MIRT449226	hsa-miR-6799-5p	PAR-CLIP	22100165
MIRT449225	hsa-miR-569	PAR-CLIP	22100165
MIRT449224	hsa-miR-1273h-5p	PAR-CLIP	22100165
MIRT449222	hsa-miR-30b-3p	PAR-CLIP	22100165
MIRT449223	hsa-miR-3689a-3p	PAR-CLIP	22100165
MIRT449221	hsa-miR-3689b-3p	PAR-CLIP	22100165
MIRT449220	hsa-miR-3689c	PAR-CLIP	22100165
MIRT449219	hsa-miR-6779-5p	PAR-CLIP	22100165
MIRT449218	hsa-miR-6780a-5p	PAR-CLIP	22100165
MIRT449217	hsa-miR-2053	PAR-CLIP	22100165
MIRT449215	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT1288042	hsa-miR-3065-5p	CLIP-seq
MIRT1288043	hsa-miR-3973	CLIP-seq
MIRT1288044	hsa-miR-509-3p	CLIP-seq
MIRT1288045	hsa-miR-541	CLIP-seq
MIRT1288046	hsa-miR-629	CLIP-seq
MIRT1288047	hsa-miR-654-5p	CLIP-seq
MIRT1288048	hsa-miR-1208	CLIP-seq
MIRT1288049	hsa-miR-1224-3p	CLIP-seq
MIRT1288050	hsa-miR-1283	CLIP-seq
MIRT1288051	hsa-miR-1291	CLIP-seq
MIRT1288052	hsa-miR-1297	CLIP-seq
MIRT1288053	hsa-miR-137	CLIP-seq
MIRT1288054	hsa-miR-194	CLIP-seq
MIRT1288055	hsa-miR-204	CLIP-seq
MIRT1288056	hsa-miR-21	CLIP-seq
MIRT1288057	hsa-miR-211	CLIP-seq
MIRT1288058	hsa-miR-2117	CLIP-seq
MIRT1288059	hsa-miR-224	CLIP-seq
MIRT1288060	hsa-miR-25	CLIP-seq
MIRT1288061	hsa-miR-26a	CLIP-seq
MIRT1288062	hsa-miR-26b	CLIP-seq
MIRT1288063	hsa-miR-3136-5p	CLIP-seq
MIRT1288064	hsa-miR-3143	CLIP-seq
MIRT1288065	hsa-miR-3155	CLIP-seq
MIRT1288066	hsa-miR-3155b	CLIP-seq
MIRT1288067	hsa-miR-32	CLIP-seq
MIRT1288068	hsa-miR-328	CLIP-seq
MIRT1288069	hsa-miR-3613-3p	CLIP-seq
MIRT1288070	hsa-miR-363	CLIP-seq
MIRT1288071	hsa-miR-3663-5p	CLIP-seq
MIRT1288072	hsa-miR-3667-3p	CLIP-seq
MIRT1288073	hsa-miR-367	CLIP-seq
MIRT1288074	hsa-miR-3677-5p	CLIP-seq
MIRT1288075	hsa-miR-3714	CLIP-seq
MIRT1288076	hsa-miR-3922-5p	CLIP-seq
MIRT1288077	hsa-miR-4273	CLIP-seq
MIRT1288078	hsa-miR-4287	CLIP-seq
MIRT1288079	hsa-miR-4325	CLIP-seq
MIRT1288080	hsa-miR-4439	CLIP-seq
MIRT1288081	hsa-miR-4446-5p	CLIP-seq
MIRT1288082	hsa-miR-4465	CLIP-seq
MIRT1288083	hsa-miR-4513	CLIP-seq
MIRT1288084	hsa-miR-4540	CLIP-seq
MIRT1288085	hsa-miR-4659a-3p	CLIP-seq
MIRT1288086	hsa-miR-4659b-3p	CLIP-seq
MIRT1288087	hsa-miR-4677-5p	CLIP-seq
MIRT1288088	hsa-miR-4685-3p	CLIP-seq
MIRT1288089	hsa-miR-4742-5p	CLIP-seq
MIRT1288090	hsa-miR-4755-5p	CLIP-seq
MIRT1288091	hsa-miR-4756-3p	CLIP-seq
MIRT1288092	hsa-miR-4764-5p	CLIP-seq
MIRT1288093	hsa-miR-4778-3p	CLIP-seq
MIRT1288094	hsa-miR-4780	CLIP-seq
MIRT1288095	hsa-miR-4786-5p	CLIP-seq
MIRT1288096	hsa-miR-4789-5p	CLIP-seq
MIRT1288097	hsa-miR-510	CLIP-seq
MIRT1288098	hsa-miR-543	CLIP-seq
MIRT1288099	hsa-miR-590-5p	CLIP-seq
MIRT1288100	hsa-miR-623	CLIP-seq
MIRT1288101	hsa-miR-769-5p	CLIP-seq
MIRT1288102	hsa-miR-92a	CLIP-seq
MIRT1288103	hsa-miR-92b	CLIP-seq
MIRT1288104	hsa-miR-940	CLIP-seq
MIRT1288105	hsa-miR-943	CLIP-seq
MIRT1288106	hsa-miR-1254	CLIP-seq
MIRT1288107	hsa-miR-1273g	CLIP-seq
MIRT1288108	hsa-miR-1304	CLIP-seq
MIRT1288109	hsa-miR-130a	CLIP-seq
MIRT1288110	hsa-miR-130b	CLIP-seq
MIRT1288111	hsa-miR-1537	CLIP-seq
MIRT1288112	hsa-miR-18a	CLIP-seq
MIRT1288113	hsa-miR-18b	CLIP-seq
MIRT1288114	hsa-miR-19a	CLIP-seq
MIRT1288115	hsa-miR-19b	CLIP-seq
MIRT1288116	hsa-miR-301a	CLIP-seq
MIRT1288117	hsa-miR-301b	CLIP-seq
MIRT1288118	hsa-miR-302a	CLIP-seq
MIRT1288119	hsa-miR-302b	CLIP-seq
MIRT1288120	hsa-miR-302c	CLIP-seq
MIRT1288121	hsa-miR-302d	CLIP-seq
MIRT1288122	hsa-miR-302e	CLIP-seq
MIRT1288123	hsa-miR-3116	CLIP-seq
MIRT1288124	hsa-miR-3666	CLIP-seq
MIRT1288125	hsa-miR-372	CLIP-seq
MIRT1288126	hsa-miR-373	CLIP-seq
MIRT1288127	hsa-miR-410	CLIP-seq
MIRT1288128	hsa-miR-4295	CLIP-seq
MIRT1288129	hsa-miR-454	CLIP-seq
MIRT1288130	hsa-miR-4735-3p	CLIP-seq
MIRT1288131	hsa-miR-4795-3p	CLIP-seq
MIRT1288132	hsa-miR-488	CLIP-seq
MIRT1288133	hsa-miR-519a	CLIP-seq
MIRT1288134	hsa-miR-519b-3p	CLIP-seq
MIRT1288135	hsa-miR-519c-3p	CLIP-seq
MIRT1288136	hsa-miR-520a-3p	CLIP-seq
MIRT1288137	hsa-miR-520b	CLIP-seq
MIRT1288138	hsa-miR-520c-3p	CLIP-seq
MIRT1288139	hsa-miR-520d-3p	CLIP-seq
MIRT1288140	hsa-miR-520e	CLIP-seq
MIRT1288141	hsa-miR-550a	CLIP-seq
MIRT1288142	hsa-miR-563	CLIP-seq
MIRT1288143	hsa-miR-661	CLIP-seq
MIRT1288144	hsa-miR-944	CLIP-seq
MIRT2085302	hsa-miR-325	CLIP-seq
MIRT2085303	hsa-miR-4453	CLIP-seq
MIRT2085304	hsa-miR-4538	CLIP-seq
MIRT2085305	hsa-miR-576-3p	CLIP-seq
MIRT2085306	hsa-miR-628-3p	CLIP-seq
MIRT2085307	hsa-miR-635	CLIP-seq
MIRT2310745	hsa-miR-1267	CLIP-seq
MIRT2310746	hsa-miR-135a	CLIP-seq
MIRT2310747	hsa-miR-135b	CLIP-seq
MIRT2310748	hsa-miR-3913-3p	CLIP-seq
MIRT2310749	hsa-miR-4687-3p	CLIP-seq
MIRT1288131	hsa-miR-4795-3p	CLIP-seq
MIRT2310750	hsa-miR-489	CLIP-seq
MIRT1288144	hsa-miR-944	CLIP-seq
MIRT2393410	hsa-miR-1293	CLIP-seq
MIRT2393411	hsa-miR-3122	CLIP-seq
MIRT2393412	hsa-miR-3913-5p	CLIP-seq
MIRT2393413	hsa-miR-3929	CLIP-seq
MIRT2393414	hsa-miR-4419b	CLIP-seq
MIRT2393415	hsa-miR-4478	CLIP-seq
MIRT2393416	hsa-miR-4483	CLIP-seq
MIRT2393417	hsa-miR-485-5p	CLIP-seq
MIRT2393418	hsa-miR-500a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GTF3A	Unknown	9878257
TP53	Unknown	9878257

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:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	23149936
GO:0001701	Process	In utero embryonic development	IEA
GO:0001832	Process	Blastocyst growth	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9512535
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0003690	Function	Double-stranded DNA binding	IDA	12441335
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	12441335
GO:0005515	Function	Protein binding	IPI	9469824, 11751635, 11842113, 21965664, 24141787, 25416956, 28864920, 32296183, 33961781, 34591612
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9512535
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IBA
GO:0005657	Component	Replication fork	IDA	20207730
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9512535
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	TAS	9512535
GO:0006974	Process	DNA damage response	IEA
GO:0007131	Process	Reciprocal meiotic recombination	TAS	9441753
GO:0008094	Function	ATP-dependent activity, acting on DNA	IBA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	12441335
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010971	Process	Positive regulation of G2/M transition of mitotic cell cycle	IMP	23108668
GO:0033063	Component	Rad51B-Rad51C-Rad51D-XRCC2 complex	IDA	11751635
GO:0033063	Component	Rad51B-Rad51C-Rad51D-XRCC2 complex	IEA
GO:0061053	Process	Somite development	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

Other IDs

• MIM: 602948
• HGNC: 9822
• e!Ensembl: ENSG00000182185

Protein

• UniProt ID: O15315
• Protein name: DNA repair protein RAD51 homolog 2 (R51H2) (RAD51 homolog B) (Rad51B) (RAD51-like protein 1)
• 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. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-str
• PDB: 8FAZ, 8GBJ, 8OUY, 8OUZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08423	Rad51	42 → 344	Rad51	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in a wide range of tissues.
• Sequence:

  MGSKKLKRVGLSQELCDRLSRHQILTCQDFLCLSPLELMKVTGLSYRGVHELLCMVSRAC
  APKMQTAYGIKAQRSADFSPAFLSTTLSALDEALHGGVACGSLTEITGPPGCGKTQFCIM
  MSILATLPTNMGGLEGAVVYIDTESAFSAERLVEIAESRFPRYFNTEEKLLLTSSKVHLY
  RELTCDEVLQRIESLEEEIISKGIKLVILDSVASVVRKEFDAQLQGNLKERNKFLAREAS
  SLKYLAEEFSIPVILTNQITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTW
  SHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQETTFCSVTQAELNWA
  PEILPPQPPEQLGLQMCHHTQLIF

• Sequence length: 384

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
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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; -	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Poly (ADP-Ribose) polymerase inhibitor response	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTPARTUM DEPRESSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	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
RAD51B-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	-	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	23455636		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	23455636, 26691988		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	24526414, 29197628, 29487693		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	27651161	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24532676, 28361912, 36835215	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	27182965, 29785011, 30929738, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	31095684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	31095684	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15942943		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	16778173		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	GWASCAT_DG	21399635		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37878192	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	27149063		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19330030, 20095854, 21533530, 21593217, 21791674, 21852249, 22232737, 22454379, 23593120, 24139550, 24729084, 25600502, 26351136, 27149063, 27467053, 27848153, 28983784, 29255180		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	19330030, 22232737, 23001122, 23535729, 25751625, 27197191, 29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19330030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASDB_DG	23001122		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	19330030, 21593217, 21791674, 21844186, 21852249, 21959381, 22232737, 22313133, 22454379, 23190577, 23593120, 23635555, 24139550, 24325915, 24729084, 24743323, 24792587, 25255808, 26094658, 26472073, 27149063, 27467053, 27848153, 29255180, 29316957, 31780696, 32295201	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	23001122, 27149063	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms, Male	Neoplasm of male breast	CTD_human_DG	23001122		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	12441335	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	23001122		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	CTD_human_DG	23001122		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24190013, 26261251	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35737913	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32098697	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24139550, 24190013, 26261251, 26351136		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27334422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	25779941, 27334422		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738, 31036433		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31209889		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35567913	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16778173		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal neovascularization	Pubtator	24498017	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27744395		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	25600502		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24190013, 26261251		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	31584931		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	31584931	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	31584931		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	26787895		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	16778173		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22017238		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22017238		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	20610542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	20610542	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	24498017	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	29197628		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	11978964, 15942943		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	LHGDN	11978964		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	24139550, 29255180, 30535121, 33099839	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	CLINVAR_DG	26898890		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyoma	Leiomyoma	Pubtator	23738515, 26787895	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	28514723, 38141829	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37286545	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lipoblastoma	Lipoblastoma	BEFREE	23890983		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26502338, 28714469		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27651161	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	31361614		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23455636, 24526414, 26961928, 30535121, 31191752	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	19330030, 20095854, 21533530, 21593217, 21791674, 21852249, 22232737, 22454379, 23593120, 24139550, 24729084, 25600502, 26351136, 27149063, 27467053, 27848153, 28983784, 29255180		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	19330030, 23535729		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19330030		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24139550, 26351136		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	23535732		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26339569, 26964030		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27651161		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27334422, 27651161, 27683114		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27334422		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31209889		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19330030		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19330030		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19330030		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25600502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mirror movements disorder	Mirror Movements	BEFREE	28117402		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29024686		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	31697570		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21368091		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	21368091	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15942943, 16778173, 19602464, 21852249, 26608380, 27651161		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29207658		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24139550, 26351136		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26261251, 29255180, 37344587, 38041901	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	39256447	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28117402		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28117402	Associate	★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	25651471		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	33622874	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	21399635, 22961000, 26394269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	21399635, 22961000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	23535732, 27197191, 29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	26339569, 26964030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26339569, 26964030, 32234758	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24022229, 27744395, 28361912		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	24390342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	24390342, 24532676, 30166627, 30423114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	31361614		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	38141829	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Erosion	Skin Erosion	BEFREE	28361912		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27683114	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27683114		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27651161		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	27651161	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27651161	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	15942943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	21844186		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21844186, 24325915	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27334422, 27363024	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	11135437, 15942943, 26787895, 9892177		★☆☆☆☆ Found in Text Mining only