Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
0.010 Biomarker disease BEFREE We selected a mouse model of nGD carrying a loxP-flanked neomycin disruption of Gba plus Cre recombinase regulated by the keratinocyte-specific K14 promoter. 30013199 2018
Entrez Id: 117189
Gene Symbol: GRDX
GRDX
0.010 GeneticVariation disease BEFREE Fe-NM-based contrast agents are found to have relaxivities 2× greater than those found in the widely used gadolinium chelate, Gd(III) DOTA, providing a practical alternative that would eliminate Gd(III) patient exposure entirely. 30088917 2018
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
0.010 AlteredExpression disease BEFREE As cellular signalling is believed to represent an in vivo inflammatory phenotype in Gaucher's disease, activation of p38 and possibly its-associated formation of proinflammatory cytokines were assessed in fibroblasts established from neuronopathic Gaucher's disease mice. 26312487 2015
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
0.010 AlteredExpression disease BEFREE As cellular signalling is believed to represent an in vivo inflammatory phenotype in Gaucher's disease, activation of p38 and possibly its-associated formation of proinflammatory cytokines were assessed in fibroblasts established from neuronopathic Gaucher's disease mice. 26312487 2015
Entrez Id: 26073
Gene Symbol: POLDIP2
POLDIP2
0.010 AlteredExpression disease BEFREE As cellular signalling is believed to represent an in vivo inflammatory phenotype in Gaucher's disease, activation of p38 and possibly its-associated formation of proinflammatory cytokines were assessed in fibroblasts established from neuronopathic Gaucher's disease mice. 26312487 2015
Entrez Id: 1432
Gene Symbol: MAPK14
MAPK14
0.010 AlteredExpression disease BEFREE As cellular signalling is believed to represent an in vivo inflammatory phenotype in Gaucher's disease, activation of p38 and possibly its-associated formation of proinflammatory cytokines were assessed in fibroblasts established from neuronopathic Gaucher's disease mice. 26312487 2015
Entrez Id: 1398
Gene Symbol: CRK
CRK
0.010 AlteredExpression disease BEFREE As cellular signalling is believed to represent an in vivo inflammatory phenotype in Gaucher's disease, activation of p38 and possibly its-associated formation of proinflammatory cytokines were assessed in fibroblasts established from neuronopathic Gaucher's disease mice. 26312487 2015
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
0.010 AlteredExpression disease BEFREE As cellular signalling is believed to represent an in vivo inflammatory phenotype in Gaucher's disease, activation of p38 and possibly its-associated formation of proinflammatory cytokines were assessed in fibroblasts established from neuronopathic Gaucher's disease mice. 26312487 2015
Entrez Id: 25897
Gene Symbol: RNF19A
RNF19A
0.010 AlteredExpression disease BEFREE As cellular signalling is believed to represent an in vivo inflammatory phenotype in Gaucher's disease, activation of p38 and possibly its-associated formation of proinflammatory cytokines were assessed in fibroblasts established from neuronopathic Gaucher's disease mice. 26312487 2015
Entrez Id: 9402
Gene Symbol: GRAP2
GRAP2
0.010 AlteredExpression disease BEFREE As cellular signalling is believed to represent an in vivo inflammatory phenotype in Gaucher's disease, activation of p38 and possibly its-associated formation of proinflammatory cytokines were assessed in fibroblasts established from neuronopathic Gaucher's disease mice. 26312487 2015
Entrez Id: 351
Gene Symbol: APP
APP
0.010 Biomarker disease BEFREE Immunohistochemical and biochemical analyses showed significant amounts of β-amyloid and amyloid precursor protein (APP) aggregates in the cortex, hippocampus, stratum and substantia nigra of the nGD mice. 24599400 2014
Entrez Id: 6750
Gene Symbol: SST
SST
0.010 Biomarker disease BEFREE Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. 23783781 2013
Entrez Id: 947
Gene Symbol: CD34
CD34
0.010 Biomarker disease BEFREE Whole-marrow mononuclear cells and CD34-enriched cells from a 4-yr-old female with type 3 Gaucher disease were transduced by the L-GC vector and studied in long-term bone marrow culture (LTBMC). 1379609 1992
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1
0.050 Biomarker disease BEFREE Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. 28040394 2017
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1
0.050 Biomarker disease BEFREE Fluorinated Chaperone-β-Cyclodextrin Formulations for β-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease. 28171725 2017
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1
0.050 Biomarker disease BEFREE These studies implicate defective GCase function and GC/GS accumulation as risk factors for mitochondrial dysfunction and the multi-proteinopathies (α-synuclein-, APP- and Aβ-aggregates) in nGD. 24599400 2014
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1
0.050 Biomarker disease BEFREE We report the first characterization of a GBA genotype associated with the development of neutralizing antibody to alglucerase, in a patient affected with type 3 Gaucher disease. 11600137 2001
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1
0.050 GeneticVariation disease BEFREE A MspI polymorphism was detected in the beta-glucocerebrosidase gene in 10 Swedish families affected by type III Gaucher's disease. 2468600 1988
Entrez Id: 1118
Gene Symbol: CHIT1
CHIT1
0.300 Biomarker disease CTD_human Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. 17464953 2007
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.300 Biomarker disease CTD_human Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. 12359135 2003
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
0.310 Biomarker disease BEFREE These studies implicate defective GCase function and GC/GS accumulation as risk factors for mitochondrial dysfunction and the multi-proteinopathies (α-synuclein-, APP- and Aβ-aggregates) in nGD. 24599400 2014
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
0.310 Biomarker disease CTD_human Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. 19576930 2009
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.770 GeneticVariation disease BEFREE Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene. 31678773 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.770 Biomarker disease GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.770 GeneticVariation disease BEFREE To explore this, we studied neuronopathic Gaucher disease (nGD), caused by mutations in GBA. 30013199 2018