MYSM1, Myb like, SWIRM and MPN domains 1, 114803

N. diseases: 37; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.020 AlteredExpression phenotype BEFREE Correction: Expression of MYSM1 is associated with tumor progression in colorectal cancer. 29020094 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.020 AlteredExpression phenotype BEFREE Expression of MYSM1 is associated with tumor progression in colorectal cancer. 28498834 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE Scratch assay and Transwell assay showed that MYSM1 silencing decreased migration and invasion abilities of SW480 cells. 28498834 2017
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
0.100 Biomarker disease HPO
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
0.010 AlteredExpression disease BEFREE In conclusion, our results are clearly indicating that, aspirin prevents renal fibrosis in diabetic animals through decreasing the expression of Mysm1, increasing the expression of H2AK119-Ub and thereby decreasing the protein expression of Set7, which is a novel mechanism. 29656179 2018
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
0.100 Biomarker phenotype HPO
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.010 AlteredExpression group BEFREE We observed that MYSM1 were downregulated in CRPC compared to localized prostate tumors. 31761786 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 Biomarker disease BEFREE Integrative bioinformatic analyses of the significantly associated genes with MYSM1 revealed MYSM1-correlated pathways, providing substantial clues as to the role of MYSM1 in PCa. 31761786 2019
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.010 Biomarker group BEFREE We report a case of NP associated with myelodysplasia in a child with MYSM1 deficiency, a newly described syndrome with primary immunodeficiency (PI), bone marrow failure, and developmental aberrations. 30746751 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.310 Biomarker disease BEFREE Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations. 28115216 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.310 Biomarker disease GENOMICS_ENGLAND Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes. 26474655 2015
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.010 Biomarker disease BEFREE In summary, our results demonstrate novel roles for Mysm1 in osteoblast differentiation and osteoclast formation, resulting in osteopenia in Mysm1-deficient mice that could be abrogated by the loss of p53 from increased osteogenic differentiation of Mysm1<sup>-/-</sup>p53<sup>-/-</sup> MSCs.-Haffner-Luntzer, M., Kovtun, A., Fischer, V., Prystaz, K., Hainzl, A., Kroeger, C. M., Krikki, I., Brinker, T. J., Ignatius, A., Gatzka, M. Loss of p53 compensates osteopenia in murine Mysm1 deficiency. 29203593 2018
CUI: C1868810
Disease: Neutrophilic panniculitis
Neutrophilic panniculitis
0.010 GeneticVariation disease BEFREE We report a case of NP associated with myelodysplasia in a child with MYSM1 deficiency, a newly described syndrome with primary immunodeficiency (PI), bone marrow failure, and developmental aberrations. 30746751 2019
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay
0.300 Biomarker phenotype GENOMICS_ENGLAND Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes. 26474655 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Mysm1-deficient ASCs exacerbated inflammatory bowel diseases but inhibited tumour growth in vivo. 30895711 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 AlteredExpression group BEFREE Patients with positiveMYSM1expression showed poor survival compared with the MYSM1 negative group (P<0.001).Simultaneously, multivariate Cox regression analysis indicated thatMYSM1 expression in tumor cells was an independent factor for reduced overall survival in CRC patients (P<0.001).Additionally,MYSM1 in CRC SW480 cells was silenced by small interference RNA (siRNA) technology. 28498834 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE In context with our finding that MYSM1 bound to the <i>c-MET</i> promoter region in close vicinity to PAX3 in melanoma cells, our data indicate that MYSM1 is an epigenetic regulator of melanoma growth and potentially promising new target for tumor therapy. 28978033 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE Correlation analyses by Pearson's chi-square test demonstrated that MYSM1 in tumors was positively correlated with tumor status (pathological assessment of the primary tumor (pT, P<0.001), regional lymph nodes (pN, P = 0.013), distant metastasis (pM, P<0.001)) and clinic stage (P<0.001); Whereas, MYSM1 was not associated with tumor size of CRC patients and was positively associated with tumor differentiation grade (P = 0.015). 28498834 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation group BEFREE We report a case of NP associated with myelodysplasia in a child with MYSM1 deficiency, a newly described syndrome with primary immunodeficiency (PI), bone marrow failure, and developmental aberrations. 30746751 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.010 GeneticVariation disease BEFREE We report a case of NP associated with myelodysplasia in a child with MYSM1 deficiency, a newly described syndrome with primary immunodeficiency (PI), bone marrow failure, and developmental aberrations. 30746751 2019
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
0.100 Biomarker phenotype HPO
CUI: C0025202
Disease: melanoma
melanoma
0.010 Biomarker disease BEFREE In context with our finding that MYSM1 bound to the <i>c-MET</i> promoter region in close vicinity to PAX3 in melanoma cells, our data indicate that MYSM1 is an epigenetic regulator of melanoma growth and potentially promising new target for tumor therapy. 28978033 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 Biomarker disease BEFREE Integrative bioinformatic analyses of the significantly associated genes with MYSM1 revealed MYSM1-correlated pathways, providing substantial clues as to the role of MYSM1 in PCa. 31761786 2019
Malignant neoplasm of colon and/or rectum
0.020 AlteredExpression disease BEFREE Expression of MYSM1 is associated with tumor progression in colorectal cancer. 28498834 2017
Malignant neoplasm of colon and/or rectum
0.020 AlteredExpression disease BEFREE Correction: Expression of MYSM1 is associated with tumor progression in colorectal cancer. 29020094 2017