Gaucher Disease Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. (Human Disease Ontology, DOID_1926)
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Genes

40 genes associated with the Gaucher Disease phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
BMP4 bone morphogenetic protein 4
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
COL2A1 collagen, type II, alpha 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
ESR2 estrogen receptor 2 (ER beta)
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GBA3 glucosidase, beta, acid 3 (gene/pseudogene)
HFE hemochromatosis
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IL6 interleukin 6
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
KIR2DL5A killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A
KIR2DL5B killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
KIR2DS3 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3
KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3
KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
LDLR low density lipoprotein receptor
LINC01194 long intergenic non-protein coding RNA 1194
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
PWAR1 Prader Willi/Angelman region RNA 1
SPP1 secreted phosphoprotein 1
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
UGCG UDP-glucose ceramide glucosyltransferase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor