Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 CausalMutation disease CLINVAR
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 GeneticVariation disease CLINVAR
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: 2629
Gene Symbol: GBA
GBA 		0.770 Biomarker disease GENOMICS_ENGLAND A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. 1840477 1991
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 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: 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: 2629
Gene Symbol: GBA
GBA 		0.770 Biomarker disease GENOMICS_ENGLAND Hydrops fetalis associated with Gaucher disease. 6504764 1984
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 GeneticVariation disease UNIPROT Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. 8780099 1996
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 Biomarker disease GENOMICS_ENGLAND D409H/D409H genotype in Gaucher-like disease. 9040001 1997
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 Biomarker disease CTD_human Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat. 9101438 1997
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 Biomarker disease CTD_human Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. 10757640 2000
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 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 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: 2629
Gene Symbol: GBA
GBA 		0.770 GeneticVariation disease UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202 2002
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 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: 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: 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: 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 Biomarker disease GENOMICS_ENGLAND Hyperferritinemia and iron overload in type 1 Gaucher disease. 20575041 2010
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 Biomarker disease CTD_human Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity. 21250698 2011
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 Biomarker disease CTD_human New glucocerebrosidase inhibitors by exploration of chemical diversity of N-substituted aminocyclitols using click chemistry and in situ screening. 21370884 2011
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: 2629
Gene Symbol: GBA
GBA 		0.770 GeneticVariation disease UNIPROT Functional analysis of 11 novel GBA alleles. 24022302 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.770 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 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