Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 Biomarker disease BEFREE To examine the effect of pSer9-GSK-3β on breast cancer and to determine whether the underlying metabolic and immunological mechanism is associated with ROS/eIF2B and natural killer (NK) cells. 31119045 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.320 Biomarker disease BEFREE To examine the effect of pSer9-GSK-3β on breast cancer and to determine whether the underlying metabolic and immunological mechanism is associated with ROS/eIF2B and natural killer (NK) cells. 31119045 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 Biomarker disease CTD_human An integrated genomics approach identifies drivers of proliferation in luminal-subtype human breast cancer. 25151356 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.320 Biomarker disease CTD_human An integrated genomics approach identifies drivers of proliferation in luminal-subtype human breast cancer. 25151356 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 PosttranslationalModification disease BEFREE Our results suggest that NO-induced cytostasis in breast cancer cells was due to PKR activation and increased phosphorylation of eIF2-alpha, whereas the reduced susceptibility of normal mammary epithelial cells to NO could be due to the inaccessibility of PKR, which is bound to inhibitor p58. 18559534 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.320 PosttranslationalModification disease BEFREE Our results suggest that NO-induced cytostasis in breast cancer cells was due to PKR activation and increased phosphorylation of eIF2-alpha, whereas the reduced susceptibility of normal mammary epithelial cells to NO could be due to the inaccessibility of PKR, which is bound to inhibitor p58. 18559534 2008
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human An integrated genomics approach identifies drivers of proliferation in luminal-subtype human breast cancer. 25151356 2014
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.300 Biomarker group CTD_human The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective. 25151356 2014
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human An integrated genomics approach identifies drivers of proliferation in luminal-subtype human breast cancer. 25151356 2014
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.100 GeneticVariation disease BEFREE EIF2B1-5 genes encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B) were analyzed in all patients with clinically suspected VWM disease. 31385086 2020
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 GeneticVariation disease BEFREE Vanishing white matter (VWM) disease (OMIM#306896) is an autosomal recessive neurodegenerative leukodystrophy caused by hypomorphic mutations in any of the five genes encoding the subunits of eukaryotic translation initiation factor 2B (eIF2B). 31134486 2019
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.100 GeneticVariation disease BEFREE Vanishing white matter (VWM) disease (OMIM#306896) is an autosomal recessive neurodegenerative leukodystrophy caused by hypomorphic mutations in any of the five genes encoding the subunits of eukaryotic translation initiation factor 2B (eIF2B). 31134486 2019
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.100 GeneticVariation disease BEFREE Vanishing white matter disease (VWM) is an autosomal recessive neurological disorder caused by mutation(s) in any subunit of eukaryotic translation initiation factor 2B (eIF2B), an activator of translation initiation factor eIF2. 31587290 2019
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.100 GeneticVariation disease BEFREE Vanishing white matter disease (VWM) is an inherited leukoencephalopathy in children attributed to mutations in EIF2B1-5, encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B). 30720246 2019
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		0.100 GeneticVariation disease BEFREE Vanishing white matter disease (VWM) is an autosomal recessive neurological disorder caused by mutation(s) in any subunit of eukaryotic translation initiation factor 2B (eIF2B), an activator of translation initiation factor eIF2. 31587290 2019
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		0.100 GeneticVariation disease BEFREE Vanishing white matter disease (VWM) is an inherited leukoencephalopathy in children attributed to mutations in EIF2B1-5, encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B). 30720246 2019
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 GeneticVariation disease BEFREE Hypomorphic EIF2B alleles can lead to Vanishing White Matter Disease (VWMD), a leukodystrophy that causes progressive white matter loss. 30115954 2018
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 GeneticVariation disease BEFREE Vanishing white matter (VWM) disease is an autosomal genetic leukodystrophy caused by mutations in subunits of eukaryotic translation initiation factor 2B (eIF2B). 30279648 2018
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 GeneticVariation disease BEFREE Mutations in eIF2B genes cause vanishing white matter disease (VWMD), a fatal leukodystrophy that can manifest following physical trauma or illness, conditions that activate the integrated stress response (ISR). 29632131 2018
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 AlteredExpression disease BEFREE Although eIF2B is ubiquitously expressed, VWM primarily manifests as a leukodystrophy with increasing white matter rarefaction and cystic degeneration, meager astrogliosis with no glial scarring and dysmorphic immature astrocytes and increased numbers of oligodendrocyte progenitor cells that are restrained from maturing into myelin-forming cells. 29740943 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.100 PosttranslationalModification disease BEFREE Future treatment strategies involving compounds regulating eIF2 phosphorylation might benefit VWM patients. 28953319 2018
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.100 GeneticVariation disease BEFREE Vanishing white matter (VWM) disease is an autosomal genetic leukodystrophy caused by mutations in subunits of eukaryotic translation initiation factor 2B (eIF2B). 30279648 2018
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		0.100 GeneticVariation disease BEFREE Mutations in eIF2B genes cause vanishing white matter disease (VWMD), a fatal leukodystrophy that can manifest following physical trauma or illness, conditions that activate the integrated stress response (ISR). 29632131 2018
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		0.100 GeneticVariation disease BEFREE To examine these issues, we assessed eIF2B body, stress granule, and P-body induction in wild-type yeast cells and cells carrying VWMD alleles in the EIF2B2 (GCD7) and EIF2B5 (GCD6) subunits of eIF2B. 30115954 2018