Fabry Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_14499)
External Link https://www.disgenet.org/browser/0/1/0/C0002986
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Genes

104 genes associated with the disease Fabry Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACD adrenocortical dysplasia homolog (mouse)
ACTB actin, beta
ADIPOQ adiponectin, C1Q and collagen domain containing
AGA aspartylglucosaminidase
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AMBP alpha-1-microglobulin/bikunin precursor
APOE apolipoprotein E
ARSA arylsulfatase A
ARSB arylsulfatase B
ATAD1 ATPase family, AAA domain containing 1
BTK Bruton agammaglobulinemia tyrosine kinase
C16ORF82 chromosome 16 open reading frame 82
CD80 CD80 molecule
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CHDH choline dehydrogenase
COL4A1 collagen, type IV, alpha 1
CRP C-reactive protein, pentraxin-related
CTH cystathionine gamma-lyase
CTSA cathepsin A
CTSF cathepsin F
DAAM2 dishevelled associated activator of morphogenesis 2
DPP4 dipeptidyl-peptidase 4
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific )
EPHA3 EPH receptor A3
F10 coagulation factor X
F5 coagulation factor V (proaccelerin, labile factor)
FOS FBJ murine osteosarcoma viral oncogene homolog
G6PC glucose-6-phosphatase, catalytic subunit
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GAL galanin/GMAP prepropeptide
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GUSB glucuronidase, beta
HNF1B HNF1 homeobox B
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
HSPA1A heat shock 70kDa protein 1A
HSPA1B heat shock 70kDa protein 1B
HSPA2 heat shock 70kDa protein 2
ICAM1 intercellular adhesion molecule 1
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IL10 interleukin 10
IL1A interleukin 1, alpha
IL4 interleukin 4
IL6 interleukin 6
INF2 inverted formin, FH2 and WH2 domain containing
LAMP1 lysosomal-associated membrane protein 1
LAMP2 lysosomal-associated membrane protein 2
LCN2 lipocalin 2
LGALS3 lectin, galactoside-binding, soluble, 3
LRP2 low density lipoprotein receptor-related protein 2
MANBA mannosidase, beta A, lysosomal
MCF2L MCF.2 cell line derived transforming sequence-like
MEFV Mediterranean fever
MGAM maltase-glucoamylase
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MPEG1 macrophage expressed 1
MPO myeloperoxidase
MYO5B myosin VB
NAGA N-acetylgalactosaminidase, alpha-
NAIP NLR family, apoptosis inhibitory protein
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOTCH3 notch 3
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NT5E 5'-nucleotidase, ecto (CD73)
PECAM1 platelet/endothelial cell adhesion molecule 1
PODXL podocalyxin-like
PON1 paraoxonase 1
PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)
PRDX2 peroxiredoxin 2
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PTGDS prostaglandin D2 synthase 21kDa (brain)
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough
RPS27 ribosomal protein S27
SCARB2 scavenger receptor class B, member 2
SELE selectin E
SFN stratifin
SI sucrase-isomaltase (alpha-glucosidase)
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOD2 superoxide dismutase 2, mitochondrial
SOX2 SRY (sex determining region Y)-box 2
SYNPO synaptopodin
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TGFB1 transforming growth factor, beta 1
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNNT1 troponin T type 1 (skeletal, slow)
TTK TTK protein kinase
TTR transthyretin
UGCG UDP-glucose ceramide glucosyltransferase
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UMOD uromodulin
VCAM1 vascular cell adhesion molecule 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VWF von Willebrand factor