Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5965
Gene name	RecQ like helicase
Gene symbol	RECQL
Synonyms (NCBI Gene)	RECONRECQL1RecQ1
Chromosome	12
Chromosome location	12p12.1
Summary	The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in th

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs376037221	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs572725483	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs745659712	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs753723230	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs768075076	ACAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs770499904	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs772102674	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1010112210	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1473421036	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565569139	G>ACATGCTACATC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565570957	GAACT>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1591973610	T>C	Likely-pathogenic	Splice acceptor variant
rs1591981379	->ACAT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591981391	->CTACATC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591988737	GGAAAATCTAGGAAAAGAAAGTTAAGAAT>-	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant

105

Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024543	hsa-miR-215-5p	Microarray	19074876
MIRT024543	hsa-miR-215-5p	Microarray	19074876
MIRT026858	hsa-miR-192-5p	Microarray	19074876
MIRT030018	hsa-miR-26b-5p	Microarray	19088304
MIRT049712	hsa-miR-92a-3p	CLASH	23622248
MIRT439791	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT439791	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT1299250	hsa-miR-1266	CLIP-seq
MIRT1299251	hsa-miR-223	CLIP-seq
MIRT1299252	hsa-miR-24	CLIP-seq
MIRT1299253	hsa-miR-3136-3p	CLIP-seq
MIRT1299254	hsa-miR-34c-3p	CLIP-seq
MIRT1299255	hsa-miR-369-3p	CLIP-seq
MIRT1299256	hsa-miR-374a	CLIP-seq
MIRT1299257	hsa-miR-374b	CLIP-seq
MIRT1299258	hsa-miR-4270	CLIP-seq
MIRT1299259	hsa-miR-4276	CLIP-seq
MIRT1299260	hsa-miR-4284	CLIP-seq
MIRT1299261	hsa-miR-4441	CLIP-seq
MIRT1299262	hsa-miR-4474-3p	CLIP-seq
MIRT1299263	hsa-miR-4518	CLIP-seq
MIRT1299264	hsa-miR-4659a-3p	CLIP-seq
MIRT1299265	hsa-miR-4659b-3p	CLIP-seq
MIRT1299266	hsa-miR-4697-3p	CLIP-seq
MIRT1299267	hsa-miR-4778-3p	CLIP-seq
MIRT1299268	hsa-miR-4786-3p	CLIP-seq
MIRT1299269	hsa-miR-548a-5p	CLIP-seq
MIRT1299270	hsa-miR-548ab	CLIP-seq
MIRT1299271	hsa-miR-548ak	CLIP-seq
MIRT1299272	hsa-miR-548b-5p	CLIP-seq
MIRT1299273	hsa-miR-548c-5p	CLIP-seq
MIRT1299274	hsa-miR-548d-5p	CLIP-seq
MIRT1299275	hsa-miR-548h	CLIP-seq
MIRT1299276	hsa-miR-548i	CLIP-seq
MIRT1299277	hsa-miR-548j	CLIP-seq
MIRT1299278	hsa-miR-548k	CLIP-seq
MIRT1299279	hsa-miR-548l	CLIP-seq
MIRT1299280	hsa-miR-548w	CLIP-seq
MIRT1299281	hsa-miR-548y	CLIP-seq
MIRT1299282	hsa-miR-559	CLIP-seq
MIRT1299283	hsa-miR-671-5p	CLIP-seq
MIRT1553072	hsa-miR-607	CLIP-seq
MIRT1299250	hsa-miR-1266	CLIP-seq
MIRT1299252	hsa-miR-24	CLIP-seq
MIRT1299258	hsa-miR-4270	CLIP-seq
MIRT1299260	hsa-miR-4284	CLIP-seq
MIRT1299261	hsa-miR-4441	CLIP-seq
MIRT1299262	hsa-miR-4474-3p	CLIP-seq
MIRT1299263	hsa-miR-4518	CLIP-seq
MIRT2089069	hsa-miR-4690-3p	CLIP-seq
MIRT2089070	hsa-miR-4719	CLIP-seq
MIRT2089071	hsa-miR-4762-5p	CLIP-seq
MIRT1299268	hsa-miR-4786-3p	CLIP-seq
MIRT1299283	hsa-miR-671-5p	CLIP-seq
MIRT1299250	hsa-miR-1266	CLIP-seq
MIRT1299252	hsa-miR-24	CLIP-seq
MIRT1299258	hsa-miR-4270	CLIP-seq
MIRT1299260	hsa-miR-4284	CLIP-seq
MIRT1299261	hsa-miR-4441	CLIP-seq
MIRT1299262	hsa-miR-4474-3p	CLIP-seq
MIRT1299263	hsa-miR-4518	CLIP-seq
MIRT1299268	hsa-miR-4786-3p	CLIP-seq
MIRT2313898	hsa-miR-561	CLIP-seq
MIRT1299283	hsa-miR-671-5p	CLIP-seq
MIRT1299253	hsa-miR-3136-3p	CLIP-seq
MIRT1299262	hsa-miR-4474-3p	CLIP-seq
MIRT1299264	hsa-miR-4659a-3p	CLIP-seq
MIRT1299265	hsa-miR-4659b-3p	CLIP-seq
MIRT1299267	hsa-miR-4778-3p	CLIP-seq
MIRT2610479	hsa-miR-1251	CLIP-seq
MIRT2610480	hsa-miR-1283	CLIP-seq
MIRT2610481	hsa-miR-129-5p	CLIP-seq
MIRT2610482	hsa-miR-219-2-3p	CLIP-seq
MIRT2610483	hsa-miR-2964a-3p	CLIP-seq
MIRT2610484	hsa-miR-331-5p	CLIP-seq
MIRT2610485	hsa-miR-3682-5p	CLIP-seq
MIRT2610486	hsa-miR-4307	CLIP-seq
MIRT2610487	hsa-miR-4452	CLIP-seq
MIRT2610488	hsa-miR-4652-3p	CLIP-seq
MIRT2610489	hsa-miR-4662a-5p	CLIP-seq
MIRT2089069	hsa-miR-4690-3p	CLIP-seq
MIRT2610490	hsa-miR-4773	CLIP-seq
MIRT2610491	hsa-miR-4803	CLIP-seq
MIRT2610492	hsa-miR-490-3p	CLIP-seq
MIRT2610493	hsa-miR-548c-3p	CLIP-seq
MIRT2610494	hsa-miR-577	CLIP-seq
MIRT2610495	hsa-miR-618	CLIP-seq
MIRT2610496	hsa-miR-649	CLIP-seq
MIRT2610497	hsa-miR-653	CLIP-seq
MIRT2610479	hsa-miR-1251	CLIP-seq
MIRT2610480	hsa-miR-1283	CLIP-seq
MIRT2610481	hsa-miR-129-5p	CLIP-seq
MIRT2610482	hsa-miR-219-2-3p	CLIP-seq
MIRT2610483	hsa-miR-2964a-3p	CLIP-seq
MIRT2610485	hsa-miR-3682-5p	CLIP-seq
MIRT2610486	hsa-miR-4307	CLIP-seq
MIRT2610487	hsa-miR-4452	CLIP-seq
MIRT2610488	hsa-miR-4652-3p	CLIP-seq
MIRT2089069	hsa-miR-4690-3p	CLIP-seq
MIRT2610490	hsa-miR-4773	CLIP-seq
MIRT2610491	hsa-miR-4803	CLIP-seq
MIRT2610492	hsa-miR-490-3p	CLIP-seq
MIRT2610495	hsa-miR-618	CLIP-seq
MIRT2610496	hsa-miR-649	CLIP-seq
MIRT2610497	hsa-miR-653	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IDA	11562355
GO:0003678	Function	DNA helicase activity	TAS	7527136, 7961977
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	9168958, 15886194, 23396353, 35025765, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	31772289, 35025765
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7961977
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	7961977
GO:0006310	Process	DNA recombination	IEA
GO:0009378	Function	Four-way junction helicase activity	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031297	Process	Replication fork processing	IDA	35025765
GO:0036121	Function	Double-stranded DNA helicase activity	IDA	35025765
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0043138	Function	3'-5' DNA helicase activity	IDA	8056767, 35025765
GO:0043138	Function	3'-5' DNA helicase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1990814	Function	DNA/DNA annealing activity	IDA	19177149

MIM	HGNC	e!Ensembl
600537	9948	ENSG00000004700

P46063

Protein name

ATP-dependent DNA helicase Q1 (EC 5.6.2.4) (DNA 3'-5' helicase Q1) (DNA helicase, RecQ-like type 1) (RecQ1) (DNA-dependent ATPase Q1) (RecQ protein-like 1)

Protein function

DNA helicase that plays a role in DNA damage repair and genome stability (PubMed:15886194, PubMed:35025765, PubMed:7527136, PubMed:7961977, PubMed:8056767). Exhibits a Mg(2+)- and ATP-dependent DNA-helicase activity that unwinds single- and doub

PDB

2V1X , 2WWY , 4U7D , 6JTZ , 8YRS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	93 → 264	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	299 → 409	Helicase conserved C-terminal domain	Family
PF16124	RecQ_Zn_bind	420 → 479	RecQ zinc-binding	Domain

Tissue specificity

TISSUE SPECIFICITY: High expression in heart, lung, skeletal muscle and kidney, low expression in brain. {ECO:0000269|PubMed:7961977}.

Sequence

MASVSALTEELDSITSELHAVEIQIQELTERQQELIQKKKVLTKKIKQCLEDSDAGASNE
YDSSPAAWNKEDFPWSGKVKDILQNVFKLEKFRPLQLETINVTMAGKEVFLVMPTGGGKS
LCYQLPALCSDGFTLVICPLISLMEDQLMVLKQLGISATMLNASSSKEHVKWVHAEMVNK
NSELKLIYVTPEKIAKSKMFMSRLEKAYEARRFTRIAVDEVHCCSQWGHDFRPDYKALGI
LKRQFPNASLIGLTATATNHVLTDAQKILCIEKCFTFTASFNRPNLYYEVRQKPSNTEDF
IEDIVKLINGRYKGQSGIIYCFSQKDSEQVTVSLQNLGIHAGAYHANLEPEDKTTVHRKW
SANEIQVVVATVAFGMGIDKPDVRFVIHHSMSKSMENYYQESGRAGRDDMKADCILYYGF
GDIFRISSMVVMENVGQQKLYEMVSYCQNISKCRRVLMAQHFDEVWNSEACNKMCDNCCK
DSAFERKNITEYCRDLIKILKQAEELNEKLTPLKLIDSWMGKGAAKLRVAGVVAPTLPRE
DLEKIIAHFLIQQYLKEDYSFTAYATISYLKIGPKANLLNNEAHAITMQVTKSTQNSFRA
ESSQTCHSEQGDKKMEEKNSGNFQKKAANMLQQSGSKNTGAKKRKIDDA

Sequence length

649

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary cancer-predisposing syndrome	Likely pathogenic	rs1565569139, rs1591973610, rs1591981379, rs1591981391, rs1591988737, rs756434860	RCV000709213 RCV000986144 RCV000986148 RCV000986149 RCV000986156 RCV000986159 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant neoplastic disease	Likely pathogenic	rs1220859536	RCV002249152	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (31)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal facial shape	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial ovarian cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ 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	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECON progeroid syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECQL-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	23951333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	19147782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	11154689, 11309417, 15899892, 16595695, 20826342, 23650516, 24958861, 30936263, 32221746	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	15886194, 17158923, 18074021, 25915596, 25945795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	25945795, 31173646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25394896, 25483193, 25915596, 25945795, 26125302, 26455304, 27125668, 27832498, 27837030, 29100281, 29341116, 29351780, 29914420, 30610487, 31444271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25915596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25394896, 25483193, 25945795, 26125302, 26455304, 27248010, 27837030, 29351780, 29914420, 31444271, 32427313, 33468559, 34461861, 35231585, 35965009, 38134458 View all (1 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	38134458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	24213927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27565844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25424877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24854846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23951333, 25424877, 29351780		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27565844		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa Autosomal Recessive Type IIB	Cutis laxa	Pubtator	35025765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25424877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21752281, 28878163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21752281, 28878163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35025765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	29351780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	35025765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	19494003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	24213927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	22031394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20198302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25394896, 25483193, 25915596, 25945795, 26125302, 26455304, 27125668, 27832498, 27837030, 29100281, 29341116, 29351780, 29914420, 30610487, 31444271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25915596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	24213927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	18422747, 20198302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27565844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23951333, 29351780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18719387, 26725729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17953710, 18422747, 18719387, 20198302, 23601052, 23951333, 24854846, 25424877, 25483193, 26455304, 27125668, 27837030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	27859906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25915596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25915596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25915596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28186131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28186131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21752281, 25483193, 26125302, 27837030, 28878163		★★★★★ ★☆☆☆☆ 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	27565844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24287950, 25867335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24287950, 25867335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23951333, 29351780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23951333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18719387, 26725729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16520463, 16540687, 26725729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	12952869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	26725729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24854846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21571861		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	24854846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31444271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31444271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	12952869, 30206203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	15899892, 23650516, 25228686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	1310977		★★★★★ ★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	BEFREE	8790942		★★★★★ ★☆☆☆☆ Found in Text Mining only

RECQL (RecQ like helicase)