BLMH, bleomycin hydrolase, 642

N. diseases: 22; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE No association was observed between carrying the BLMH-G genotype and AD in ε4 negative or positive subjects. 20198498 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 AlteredExpression disease BEFREE These results suggest that diminished functional BLH activity could contribute to the pathology of AD. 20308784 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease LHGDN To further investigate, we have analyzed association between the apolipoprotein E (apo E) and bleomycin hydrolase (BH) polymorphisms and three groups of elderly patients: control subjects (T) (n = 68), late-onset sporadic DTA patients (DTAst) (n = 65) and other non vascular neurodegerative diseases (MNDA) (n = 52). 12604387 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE Additional studies should be undertaken to increase the confidence that the BH polymorphism is associated with AD and to explore the relationship between BH and apoE. 10822352 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE To evaluate the genetic factors for AD among a Chinese population in Taiwan, we studied the polymorphisms of six candidate genes of Alzheimer's disease (AD), including the regulatory region of apolipoprotein E (Apo-E, G-186T), the promoter of apolipoprotein E (Apo-E, A-491T), the bleomycin hydrolase gene (BH, A1450G), a mutation of alpha(2)-macroglobulin gene (A2M G2998A), low-density lipoprotein receptor-related protein gene (LRP, C766T), and alpha(1)-antichymotrypsin gene (ACT, -15Ala/Thr) in AD patients and non-affected elder individuals among Taiwanese Chinese. 11099722 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE However, no direct association was observed between the -491A/T or BH-PEN polymorphism and AD. 10530514 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 Biomarker disease BEFREE These findings support a key proximal role for bleomycin hydrolase, and oxidative stress in AD. 10363952 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE In addition, apolipoprotein E gene allele E4 and the bleomycin hydrolase locus are shown to be genetic risk factors for late-onset AD in certain sporadic cases. 10230703 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 Biomarker disease BEFREE To test this hypothesis, we examined this polymorphism in 621 rigorously evaluated patients and 502 control subjects (all caucasian) but were unable to detect an association between BH and AD even after controlling for age, gender, and apolipoprotein E (ApoE) genotype. 9818937 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE We find that BMH-21 significantly inhibited tumor growth and reduced the Ki67 proliferation index in an enzalutamide-resistant xenograft tumor model. 31524299 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE BMH-21 also decreased MDM2 proto-oncogene expression and increased protein levels of the tumor suppressor p53 and p53 phosphorylated at serine 15 (p‑p53‑Ser15), which contributed to increased expression of the downstream apoptosis-related protein BCL2 associated X (BAX) and activation of caspase-3. 28656213 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 GeneticVariation group BEFREE Identification of the bleomycin hydrolase gene as a methylated tumor suppressor gene in hepatocellular carcinoma using a novel triple-combination array method. 21943823 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE These findings provide essential tools required to define the role of BH in BLM-induced pulmonary fibrosis and BLM resistance in tumors. 9331073 1997
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.030 AlteredExpression disease BEFREE Functional studies of bleomycin hydrolase activity indicate that this enzyme modulates bleomycin-induced pulmonary fibrosis, suggesting that it may be a candidate gene for Blmpf2. 12140188 2002
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.030 Biomarker disease BEFREE Compared with controls, Blmh null mice were more sensitive to acute BLM lethality and developed pulmonary fibrosis more readily following BLM treatment. 10200322 1999
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.030 Biomarker disease BEFREE These findings provide essential tools required to define the role of BH in BLM-induced pulmonary fibrosis and BLM resistance in tumors. 9331073 1997
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.020 GeneticVariation disease BEFREE Frequency distribution of BLMH, XPO5 and HFE gene polymorphisms in the South Indian population and their association with Hodgkin Lymphoma. 29683071 2018
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
0.020 GeneticVariation disease BEFREE Frequency distribution of BLMH, XPO5 and HFE gene polymorphisms in the South Indian population and their association with Hodgkin Lymphoma. 29683071 2018
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
0.020 GeneticVariation disease BEFREE Frequency distribution of BLMH, XPO5 and HFE gene polymorphisms in the South Indian population and their association with Hodgkin Lymphoma. 29683071 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE The Pol I inhibitors quarfloxin (CX-3543), CX-5461, and BMH-21 are currently under investigation for treating cancer, as rapidly dividing cancer cells are particularly dependent on high levels of Pol I transcription compared with nontransformed cells. 28263991 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE The Pol I inhibitors quarfloxin (CX-3543), CX-5461, and BMH-21 are currently under investigation for treating cancer, as rapidly dividing cancer cells are particularly dependent on high levels of Pol I transcription compared with nontransformed cells. 28263991 2017
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.020 Biomarker disease BEFREE Effect of Bleomycin Hydrolase Gene Polymorphism on Late Pulmonary Complications of Treatment for Hodgkin Lymphoma. 27327270 2016
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
0.020 Biomarker disease BEFREE Effect of Bleomycin Hydrolase Gene Polymorphism on Late Pulmonary Complications of Treatment for Hodgkin Lymphoma. 27327270 2016
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
0.020 Biomarker disease BEFREE Effect of Bleomycin Hydrolase Gene Polymorphism on Late Pulmonary Complications of Treatment for Hodgkin Lymphoma. 27327270 2016