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: C4748257
Disease: BONE MARROW FAILURE SYNDROME 4
BONE MARROW FAILURE SYNDROME 4 		0.600 CausalMutation disease CLINVAR
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 AlteredExpression disease 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 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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
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
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
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
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: 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: C4748257
Disease: BONE MARROW FAILURE SYNDROME 4
BONE MARROW FAILURE SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.400 Biomarker phenotype HPO
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.400 Biomarker phenotype GENOMICS_ENGLAND Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes. 26474655 2015
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: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.300 Biomarker group GENOMICS_ENGLAND Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes. 26474655 2015
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.300 Biomarker disease GENOMICS_ENGLAND Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes. 26474655 2015
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: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0013595
Disease: Eczema
Eczema 		0.100 Biomarker disease HPO
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.100 Biomarker disease HPO
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		0.100 Biomarker phenotype HPO
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		0.100 Biomarker disease HPO
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		0.100 Biomarker phenotype HPO