GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: GAUCHER DISEASE, PERINATAL LETHAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		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
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 Biomarker disease GENOMICS_ENGLAND Gaucher disease: pathological mechanisms and modern management. 15813845 2005
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 GeneticVariation disease UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202 2002
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 Biomarker disease GENOMICS_ENGLAND Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. 10649495 2000
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 GeneticVariation disease UNIPROT Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 10352942 1999
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 Biomarker disease GENOMICS_ENGLAND D409H/D409H genotype in Gaucher-like disease. 9040001 1997
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 Biomarker disease GENOMICS_ENGLAND Hydrops fetalis associated with Gaucher disease. 6504764 1984
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 Biomarker disease CTD_human
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 CausalMutation disease CLINVAR