HELLS, helicase, lymphoid specific, 3070

N. diseases: 84; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		0.100 Biomarker phenotype HPO
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 GeneticVariation group BEFREE DNA-binding surface regions (L2, L3 and the LSH motif) and conserved regions (II-V), had significantly poorer prognoses than tumors with mutations outside of those regions. 12509970 2003
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 PosttranslationalModification disease BEFREE Tumor-specific exon creation of the HELLS/SMARCA6 gene in non-small cell lung cancer. 15305370 2004
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 GeneticVariation disease BEFREE TP53 in gastric cancer: mutations in the l3 loop and LSH motif DNA-binding domains of TP53 predict poor outcome. 15254976 2004
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 GeneticVariation disease BEFREE TP53 in gastric cancer: mutations in the l3 loop and LSH motif DNA-binding domains of TP53 predict poor outcome. 15254976 2004
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Moreover, specific mutations in functional domain (L3 and LSH), together with advanced TNM stage, node involvement, depth of invasion, diffuse histotype, proved to be significantly related to quicker relapse and to shorter overall survival. 15254976 2004
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides 		0.010 Biomarker group BEFREE Within the first region of deletion at 10q23.33-10q24.1, around microsatellite marker D10S185 (2.77 Mb), 23 genes were identified, including three (KIF11, HHEX, and HELLS) with functions that, if dysregulated, could be critical in MF and SS. 15540164 2005
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		0.010 Biomarker disease BEFREE Within the first region of deletion at 10q23.33-10q24.1, around microsatellite marker D10S185 (2.77 Mb), 23 genes were identified, including three (KIF11, HHEX, and HELLS) with functions that, if dysregulated, could be critical in MF and SS. 15540164 2005
CUI: C4310798
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 		0.700 Biomarker disease GENOMICS_ENGLAND Lsh is involved in de novo methylation of DNA. 16395332 2006
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		0.310 Biomarker disease GENOMICS_ENGLAND Lsh is involved in de novo methylation of DNA. 16395332 2006
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.030 Biomarker disease BEFREE A centrosomal protein CEP55 and a DNA helicase/putative stem cell marker HELLS, both located within a consensus loci (10q23), were found to be novel targets of FOXM1 and their expression correlated tightly with HNSCC progression. 19287496 2009
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 AlteredExpression phenotype BEFREE We hypothesise that aberrant upregulation of FOXM1 may be inducing genomic instability through a program of malignant transformation involving the activation of CEP55 and HELLS which may facilitate aberrant mitosis and epigenetic modifications. 19287496 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 Biomarker group BEFREE This study provides strong evidence that CEP55 and HELLS may be used in conjunction with FOXM1 as a biomarker set for early cancer detection and indicators of malignant conversion and progression. 20400365 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 Biomarker group BEFREE This study provides strong evidence that CEP55 and HELLS may be used in conjunction with FOXM1 as a biomarker set for early cancer detection and indicators of malignant conversion and progression. 20400365 2010
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.030 AlteredExpression disease BEFREE These expression patterns were consistent with both qPCR data from the cell line panel and microarray data analysis of TNM-stage defined HNSCC samples confirming the progressive expression pattern of CEP55 and HELLS. 20400365 2010
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE Low level of HELLS expression was detected in the basal cell layer of the normal oral mucosa, moderate level was seen in dysplasia and high levels in both HNSCC and LnMet. 20400365 2010
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.300 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		0.300 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 Biomarker group BEFREE Significant trends were found between expression levels of FOXM1, CEP55, and HELLS and tumor staging. 22109759 2011