Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
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
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
0.800 CausalMutation disease CLINVAR
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
0.800 Biomarker disease CTD_human
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
0.610 GeneticVariation disease BEFREE We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC. 31184804 2019
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
0.610 GermlineCausalMutation disease ORPHANET We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC. 31184804 2019
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
0.610 Biomarker disease CTD_human Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. 18348258 2008
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
0.610 Biomarker disease HPO
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
0.410 GermlineCausalMutation disease ORPHANET We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC. 31184804 2019
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
0.410 Biomarker disease BEFREE We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC. 31184804 2019
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
0.410 GermlineCausalMutation disease ORPHANET Our findings demonstrate that DLL4 mutations are an additional cause of autosomal-dominant AOS or isolated ACC and provide further evidence for a key role of NOTCH signaling in the etiology of this disorder. 26299364 2015
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
0.410 GeneticVariation disease BEFREE Our findings demonstrate that DLL4 mutations are an additional cause of autosomal-dominant AOS or isolated ACC and provide further evidence for a key role of NOTCH signaling in the etiology of this disorder. 26299364 2015
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
0.410 Biomarker disease HPO
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
0.410 Biomarker disease HPO