Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.700 GermlineCausalMutation disease ORPHANET Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations. 20946052 2011
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.700 Biomarker disease GENOMICS_ENGLAND Gaucher disease: pathological mechanisms and modern management. 15813845 2005
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.700 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 		0.700 Biomarker disease GENOMICS_ENGLAND Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. 10649495 2000
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.700 GeneticVariation disease UNIPROT Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 10352942 1999
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.700 Biomarker disease GENOMICS_ENGLAND D409H/D409H genotype in Gaucher-like disease. 9040001 1997
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.700 Biomarker disease GENOMICS_ENGLAND Hydrops fetalis associated with Gaucher disease. 6504764 1984
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.700 Biomarker disease CTD_human
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.700 CausalMutation disease CLINVAR
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.010 GeneticVariation disease BEFREE A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene. 21823541 2011