BMS1, BMS1 ribosome biogenesis factor, 9790

N. diseases: 192; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 AlteredExpression disease BEFREE This study establishes that betel nut induces dyslipidemia through its alkaloid, arecoline by inhibition of AMPK (Thr-172) and activation of ACC (Ser-79) and highlights the therapeutic potential of metformin for treatment of betel-nut induced carcinogenesis, indicating the repurposing of the old drug in a new avenue. 31645006 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 GeneticVariation disease BEFREE Impaired energy signaling molecules AMPKα (Thr172), AMPKβ1/2 (Ser108), ACC (Ser79), and intracellular myocardial ATP depletion were observed in As-intoxicated animals. 31584213 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 PosttranslationalModification disease BEFREE WT showed an increase in the phosphorylation of ACC (Ser79) 2-hours after exercise and return to normal after 24-hours of exercise (p-value < 0.05), kinects that was not observed in AdKO mice. 30903866 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 AlteredExpression disease BEFREE Furthermore, EGCG dramatically increased expression of cAMP, P-PKA and P-CREBP, -AMPKα (Tr172), LKB1, P-ACC (Ser79) and lowered expression of CD36, SREBP-2, HMGCR, SREBP-1, GPAT in 1,3-DCP-treated mice livers. 30092300 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 PosttranslationalModification disease BEFREE Despite the wealth of studies, there has been a significant absence of studies recording from the gyrus of the ACC (ACCg). 28173997 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 AlteredExpression disease BEFREE A pairwise comparison of normal, adrenocortical adenomas and ACC gene expression profiles with more than four-fold expression differences and an adjusted P-value < 0.05 revealed no major differences in normal versus adrenocortical adenoma whereas there are 808 and 1085, respectively, dysregulated genes between ACC versus adrenocortical adenoma and ACC versus normal. 26446994 2015
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 GeneticVariation disease UNIPROT Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay. 23785305 2013
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 GeneticVariation disease BEFREE Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay. 23785305 2013
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 GermlineCausalMutation disease ORPHANET Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay. 23785305 2013
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 GeneticVariation disease BEFREE In an examination for a mutation of the beta-catenin gene, an activating mutation from ACC (Thr) to GCC (Ala) at codon 41 was found. 16131791 2006
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 GeneticVariation disease BEFREE On seeking a mutation of the beta catenin gene (CTNNB1), an activating mutation from ACC (Thr) to GCC (Ala) at codon 41 was found. 10655994 1999
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 Biomarker disease BEFREE We found missense mutations of AAC (Asn) to AGC (Ser) at DCC codon 176 in one cell line and ACC (Thr) to ATC (Ile) at codon 1105 in one cell line and tumor, respectively; polymorphisms of CGA (Arg) to GGA (Gly) at codon 201 and TTT (Phe) to TTG (Leu) at codon 951 in most of the cell lines and tumors; and a silent mutation of GAG (Glu) to GAA (Glu) at codon 118 in four cell lines and five primary tumors. 9288786 1997
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 GeneticVariation disease BEFREE In addition, two single base transitions were identified by direct sequencing: [exon 6; codon 95; CGA (Arg) to TGA (stop)] and [exon 7; codon 172; ACC (Thr) to ACT (Thr)] in either transcript. 7479776 1995
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 CausalMutation disease CLINVAR
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.800 Biomarker disease CTD_human
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.300 Biomarker disease CTD_human
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
0.300 Biomarker disease CTD_human
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias
0.300 Biomarker disease CTD_human
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 Biomarker group BEFREE Approximately 17.0% and 40.1% of participants met the respective definitions of hypertension according to Joint National Committee 7 (JNC7) and 2017 American College of Cardiology/American Heart Association (ACC/AHA) Hypertension Guideline. 31382808 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 Biomarker group BEFREE Impact of the new criteria of the ACC/AHA on the diagnostic prevalence of hypertension. 31481243 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 Biomarker group BEFREE Blood pressure and the new ACC/AHA hypertension guidelines. 31521481 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 Biomarker group BEFREE The recently published BP treatment guidelines by the American College of Cardiology/American Heart Association (ACC/AHA) recommend a systolic BP (SBP) and diastolic BP reduction to less than 130 mmHg and less than 80 mmHg, respectively, for all ages, and have also changed the classification of hypertension by changing the term "prehypertension" of the JNC 7 (7th Joint National Committee) guidelines to "stage 1 hypertension". 31050695 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 Biomarker group BEFREE This Kidney Disease Outcomes Quality Initiative (KDOQI) commentary focuses largely on recommendations from the ACC/AHA hypertension guidelines that are pertinent to individuals at risk of chronic kidney disease or with non-dialysis-dependent chronic kidney disease. 30905361 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 GeneticVariation group BEFREE Status of Hypertension in Tehran: Potential impact of the ACC/AHA 2017 and JNC7 Guidelines, 2012-2015. 31011156 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 Biomarker group BEFREE Using the adapted ACC/AHA BPM procedure compared to the CHEP BPM procedure led to an increase in the AHT prevalence rate (≥130/80 mm Hg) of 4% (58% vs. 54%). 30371728 2019