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	3070
Gene name	Helicase, lymphoid specific
Gene symbol	HELLS
Synonyms (NCBI Gene)	ICF4LSHNbla10143PASGSALNRSMARCA6
Chromosome	10
Chromosome location	10q23.33
Summary	This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140316223	T>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs879253733	A>G	Pathogenic	Coding sequence variant, missense variant
rs879253734	GTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs879253735	A>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs879253736	->TGAGGAAA	Pathogenic	Stop gained, coding sequence variant, intron variant, initiator codon variant, genic upstream transcript variant, 5 prime UTR variant
rs879253737	GTT>-	Pathogenic	Coding sequence variant, inframe deletion

121

Show/Hide all (121)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004361	hsa-miR-7-5p	Luciferase reporter assay	18823940
MIRT016323	hsa-miR-193b-3p	Microarray	20304954
MIRT022243	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT032248	hsa-let-7b-5p	Proteomics	18668040
MIRT039720	hsa-miR-615-3p	CLASH	23622248
MIRT039180	hsa-miR-769-5p	CLASH	23622248
MIRT036852	hsa-miR-877-3p	CLASH	23622248
MIRT716951	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT716950	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT716949	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT716948	hsa-miR-607	HITS-CLIP	19536157
MIRT735550	hsa-miR-451a	Luciferase reporter assayWestern blottingqRT-PCR	33460027
MIRT716951	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT716950	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT716949	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT716948	hsa-miR-607	HITS-CLIP	19536157
MIRT1043840	hsa-miR-1246	CLIP-seq
MIRT1043841	hsa-miR-1299	CLIP-seq
MIRT1043842	hsa-miR-140-5p	CLIP-seq
MIRT1043843	hsa-miR-2116	CLIP-seq
MIRT1043844	hsa-miR-24	CLIP-seq
MIRT1043845	hsa-miR-28-3p	CLIP-seq
MIRT1043846	hsa-miR-3138	CLIP-seq
MIRT1043847	hsa-miR-323b-3p	CLIP-seq
MIRT1043848	hsa-miR-34b	CLIP-seq
MIRT1043849	hsa-miR-34c-3p	CLIP-seq
MIRT1043850	hsa-miR-3613-3p	CLIP-seq
MIRT1043851	hsa-miR-3616-5p	CLIP-seq
MIRT1043852	hsa-miR-3647-3p	CLIP-seq
MIRT1043853	hsa-miR-3647-5p	CLIP-seq
MIRT1043854	hsa-miR-3682-5p	CLIP-seq
MIRT1043855	hsa-miR-3692	CLIP-seq
MIRT1043856	hsa-miR-369-3p	CLIP-seq
MIRT1043857	hsa-miR-3713	CLIP-seq
MIRT1043858	hsa-miR-371-5p	CLIP-seq
MIRT1043859	hsa-miR-371b-5p	CLIP-seq
MIRT1043860	hsa-miR-374a	CLIP-seq
MIRT1043861	hsa-miR-374b	CLIP-seq
MIRT1043862	hsa-miR-375	CLIP-seq
MIRT1043863	hsa-miR-3923	CLIP-seq
MIRT1043864	hsa-miR-4264	CLIP-seq
MIRT1043865	hsa-miR-4273	CLIP-seq
MIRT1043866	hsa-miR-4495	CLIP-seq
MIRT1043867	hsa-miR-4511	CLIP-seq
MIRT1043868	hsa-miR-4517	CLIP-seq
MIRT1043869	hsa-miR-4643	CLIP-seq
MIRT1043870	hsa-miR-466	CLIP-seq
MIRT1043871	hsa-miR-4666-5p	CLIP-seq
MIRT1043872	hsa-miR-4677-5p	CLIP-seq
MIRT1043873	hsa-miR-4789-3p	CLIP-seq
MIRT1043874	hsa-miR-4795-5p	CLIP-seq
MIRT1043875	hsa-miR-505	CLIP-seq
MIRT1043876	hsa-miR-510	CLIP-seq
MIRT1043877	hsa-miR-512-5p	CLIP-seq
MIRT1043878	hsa-miR-548b-3p	CLIP-seq
MIRT1043879	hsa-miR-568	CLIP-seq
MIRT1043880	hsa-miR-573	CLIP-seq
MIRT1043881	hsa-miR-576-3p	CLIP-seq
MIRT1043882	hsa-miR-622	CLIP-seq
MIRT1043883	hsa-miR-7	CLIP-seq
MIRT1043884	hsa-miR-875-3p	CLIP-seq
MIRT1043885	hsa-miR-889	CLIP-seq
MIRT1043843	hsa-miR-2116	CLIP-seq
MIRT1043844	hsa-miR-24	CLIP-seq
MIRT1043846	hsa-miR-3138	CLIP-seq
MIRT1043850	hsa-miR-3613-3p	CLIP-seq
MIRT1043851	hsa-miR-3616-5p	CLIP-seq
MIRT1043852	hsa-miR-3647-3p	CLIP-seq
MIRT1043853	hsa-miR-3647-5p	CLIP-seq
MIRT1043854	hsa-miR-3682-5p	CLIP-seq
MIRT1043857	hsa-miR-3713	CLIP-seq
MIRT1043858	hsa-miR-371-5p	CLIP-seq
MIRT1043859	hsa-miR-371b-5p	CLIP-seq
MIRT1043862	hsa-miR-375	CLIP-seq
MIRT1043864	hsa-miR-4264	CLIP-seq
MIRT1043865	hsa-miR-4273	CLIP-seq
MIRT1043872	hsa-miR-4677-5p	CLIP-seq
MIRT2009446	hsa-miR-4733-5p	CLIP-seq
MIRT1043874	hsa-miR-4795-5p	CLIP-seq
MIRT1043876	hsa-miR-510	CLIP-seq
MIRT1043877	hsa-miR-512-5p	CLIP-seq
MIRT1043880	hsa-miR-573	CLIP-seq
MIRT1043882	hsa-miR-622	CLIP-seq
MIRT1043840	hsa-miR-1246	CLIP-seq
MIRT1043842	hsa-miR-140-5p	CLIP-seq
MIRT1043843	hsa-miR-2116	CLIP-seq
MIRT2241822	hsa-miR-216b	CLIP-seq
MIRT2241823	hsa-miR-217	CLIP-seq
MIRT1043844	hsa-miR-24	CLIP-seq
MIRT1043846	hsa-miR-3138	CLIP-seq
MIRT1043847	hsa-miR-323b-3p	CLIP-seq
MIRT2241824	hsa-miR-3545-3p	CLIP-seq
MIRT1043851	hsa-miR-3616-5p	CLIP-seq
MIRT1043853	hsa-miR-3647-5p	CLIP-seq
MIRT1043854	hsa-miR-3682-5p	CLIP-seq
MIRT1043857	hsa-miR-3713	CLIP-seq
MIRT1043858	hsa-miR-371-5p	CLIP-seq
MIRT1043859	hsa-miR-371b-5p	CLIP-seq
MIRT1043862	hsa-miR-375	CLIP-seq
MIRT1043864	hsa-miR-4264	CLIP-seq
MIRT1043865	hsa-miR-4273	CLIP-seq
MIRT1043868	hsa-miR-4517	CLIP-seq
MIRT2241825	hsa-miR-4641	CLIP-seq
MIRT1043869	hsa-miR-4643	CLIP-seq
MIRT1043870	hsa-miR-466	CLIP-seq
MIRT1043872	hsa-miR-4677-5p	CLIP-seq
MIRT2009446	hsa-miR-4733-5p	CLIP-seq
MIRT1043873	hsa-miR-4789-3p	CLIP-seq
MIRT1043874	hsa-miR-4795-5p	CLIP-seq
MIRT1043876	hsa-miR-510	CLIP-seq
MIRT1043877	hsa-miR-512-5p	CLIP-seq
MIRT1043880	hsa-miR-573	CLIP-seq
MIRT1043882	hsa-miR-622	CLIP-seq
MIRT1043885	hsa-miR-889	CLIP-seq
MIRT1043841	hsa-miR-1299	CLIP-seq
MIRT1043842	hsa-miR-140-5p	CLIP-seq
MIRT1043855	hsa-miR-3692	CLIP-seq
MIRT1043874	hsa-miR-4795-5p	CLIP-seq
MIRT1043879	hsa-miR-568	CLIP-seq
MIRT1043883	hsa-miR-7	CLIP-seq
MIRT1043884	hsa-miR-875-3p	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	31802118
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000775	Component	Chromosome, centromeric region	ISS
GO:0001655	Process	Urogenital system development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	22157815, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005721	Component	Pericentric heterochromatin	IBA
GO:0005721	Component	Pericentric heterochromatin	IDA	31802118
GO:0005721	Component	Pericentric heterochromatin	IEA
GO:0005721	Component	Pericentric heterochromatin	ISS
GO:0006302	Process	Double-strand break repair	ISS
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IBA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031507	Process	Heterochromatin formation	IEA
GO:0031508	Process	Pericentric heterochromatin formation	IBA
GO:0031508	Process	Pericentric heterochromatin formation	IEA
GO:0031508	Process	Pericentric heterochromatin formation	ISS
GO:0035861	Component	Site of double-strand break	IDA	31802118
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IBA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	ISS
GO:0046651	Process	Lymphocyte proliferation	IBA
GO:0046651	Process	Lymphocyte proliferation	IEA
GO:0046651	Process	Lymphocyte proliferation	ISS
GO:0051301	Process	Cell division	IEA
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	31802118
GO:0140658	Function	ATP-dependent chromatin remodeler activity	ISS
GO:0141119	Process	Chromosomal DNA methylation maintenance following DNA replication	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
603946	4861	ENSG00000119969

Q9NRZ9

Protein name

Lymphoid-specific helicase (EC 3.6.4.-) (Proliferation-associated SNF2-like protein) (SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6)

Protein function

Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DN

PDB

8SKZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00176	SNF2_N	226 → 577	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	599 → 712	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at lower levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in neoplastic cell lines including those

Sequence

MPAERPAGSGGSEAPAMVEQLDTAVITPAMLEEEEQLEAAGLERERKMLEKARMSWDRES
TEIRYRRLQHLLEKSNIYSKFLLTKMEQQQLEEQKKKEKLERKKESLKVKKGKNSIDASE
EKPVMRKKRGREDESYNISEVMSKEEILSVAKKNKKENEDENSSSTNLCVEDLQKNKDSN
SIIKDRLSETVRQNTKFFFDPVRKCNGQPVPFQQPKHFTGGVMRWYQVEGMEWLRMLWEN
GINGILADEMGLGKTVQCIATIALMIQRGVPGPFLVCGPLSTLPNWMAEFKRFTPDIPTM
LYHGTQEERQKLVRNIYKRKGTLQIHPVVITSFEIAMRDRNALQHCYWKYLIVDEGHRIK
NMKCRLIRELKRFNADNKLLLTGTPLQNNLSELWSLLNFLLPDVFDDLKSFESWFDITSL
SETAEDIIAKEREQNVLHMLHQILTPFLLRRLKSDVALEVPPKREVVVYAPLSKKQEIFY
TAIVNRTIANMFGSSEKETIELSPTGRPKRRTRKSINYSKIDDFPNELEKLISQIQPEVD
RERAVVEVNIPVESEVNLKLQNIMMLLRKCCNHPYLIEYPIDPVTQEFKIDEELVTNSGK
FLILDRMLPELKKRGHKVLLFSQMTSMLDILMDYCHLRDFNFSRLDGSMSYSEREKNMHS
FNTDPEVFIFLVSTRAGGLGINLTAADTVIIYDSDWNPQSDLQAQDRCHRIGQTKPVVVY
RLVTANTIDQKIVERAAAKRKLEKLIIHKNHFKGGQSGLNLSKNFLDPKELMELLKSRDY
EREIKGSREKVISDKDLELLLDRSDLIDQMNASGPIKEKMGIFKILENSEDSSPECLF

Sequence length

838

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency-centromeric instability-facial anomalies syndrome 4	Pathogenic; Likely pathogenic	rs879253733, rs140316223, rs879253734, rs879253735, rs879253736, rs879253737	RCV000210912 RCV000210918 RCV000210919 RCV000210911 RCV000210917 RCV000210910 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

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.
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HELLS-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICF SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (76)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26658322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	36039643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	31541170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	28042322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	28042322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29074164		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30964110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21880597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21880597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	30964110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	30964110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28900510, 30094095, 31253190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	31541170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24892549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37414755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Communicating Hydrocephalus	Communicating Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ 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
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28069330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30964110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28042322, 30779712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28042322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28042322, 30779712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28042322, 30779712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28042322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	19561196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ICF syndrome	Immunodeficiency-centromeric instability-facial anomalies syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency syndrome, variable	Immunodeficiency	GENOMICS_ENGLAND_DG	16395332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunodeficiency syndrome, variable	Immunodeficiency	BEFREE	26216346		★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	GENOMICS_ENGLAND_DG	16395332		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	UNIPROT_DG	26216346		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30516846, 31066149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	15305370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26658322, 28900510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29074164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29074164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21880597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28900510, 30094095, 31253190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27191985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15254976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20400365, 28900510, 29109788, 31594538, 31802118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	31541170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17611626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	27473869	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12509970, 22109759, 28042322, 30516846, 30779712, 31066149, 31253190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15305370, 30094095, 31253190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30220967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34315468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	27191985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22157815	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27191985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	25338120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	34982796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	15540164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19287496, 22461910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	22109759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19287496, 20400365, 22461910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15254976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32181600, 33302814, 38453655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	38047020	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HELLS (helicase, lymphoid specific)