fabry disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_14499)
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Genes

100 genes co-occuring with the disease fabry disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
GLA galactosidase, alpha 4.29473
NAGA N-acetylgalactosaminidase, alpha- 2.02023
GAA glucosidase, alpha; acid 1.82052
A4GALT alpha 1,4-galactosyltransferase 1.34025
CTSA cathepsin A 1.30576
GBA glucosidase, beta, acid 1.26255
UGCG UDP-glucose ceramide glucosyltransferase 1.18626
M6PR mannose-6-phosphate receptor (cation dependent) 1.16649
LAMP2 lysosomal-associated membrane protein 2 1.10048
GLB1 galactosidase, beta 1 1.06816
MANBA mannosidase, beta A, lysosomal 1.06396
GRINA glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 0.951604
IDS iduronate 2-sulfatase 0.93
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 0.909787
CHIT1 chitinase 1 (chitotriosidase) 0.903621
HEXA hexosaminidase A (alpha polypeptide) 0.885979
ARSA arylsulfatase A 0.821667
ETFA electron-transfer-flavoprotein, alpha polypeptide 0.813462
AGA aspartylglucosaminidase 0.722886
FIGLA folliculogenesis specific basic helix-loop-helix 0.718039
SHE Src homology 2 domain containing E 0.70434
FOS FBJ murine osteosarcoma viral oncogene homolog 0.696707
UMOD uromodulin 0.685091
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) 0.683892
LCAT lecithin-cholesterol acyltransferase 0.660404
ARSH arylsulfatase family, member H 0.626103
F5 coagulation factor V (proaccelerin, labile factor) 0.616703
LAMP1 lysosomal-associated membrane protein 1 0.607714
MYBPC3 myosin binding protein C, cardiac 0.574217
MYH7 myosin, heavy chain 7, cardiac muscle, beta 0.571495
PSAP prosaposin 0.568775
NOS3 nitric oxide synthase 3 (endothelial cell) 0.564889
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 0.55945
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 0.548971
SORT1 sortilin 1 0.530768
COL4A1 collagen, type IV, alpha 1 0.529608
TREX1 three prime repair exonuclease 1 0.514186
FUCA2 fucosidase, alpha-L- 2, plasma 0.509959
TGOLN2 trans-golgi network protein 2 0.50689
ACE angiotensin I converting enzyme 0.503441
LRP2 low density lipoprotein receptor-related protein 2 0.495793
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 0.465794
CST3 cystatin C 0.450324
APRT adenine phosphoribosyltransferase 0.401199
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.400826
TMPRSS13 transmembrane protease, serine 13 0.399707
GANC glucosidase, alpha; neutral C 0.399334
FAIM2 Fas apoptotic inhibitory molecule 2 0.395608
FUCA1 fucosidase, alpha-L- 1, tissue 0.395235
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) 0.393374
INF2 inverted formin, FH2 and WH2 domain containing 0.386679
CD74 CD74 molecule, major histocompatibility complex, class II invariant chain 0.378514
NPB neuropeptide B 0.368518
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 0.364824
SHD Src homology 2 domain containing transforming protein D 0.360395
KRT12 keratin 12, type I 0.354499
FTCD formimidoyltransferase cyclodeaminase 0.346409
IDUA iduronidase, alpha-L- 0.346042
BTK Bruton agammaglobulinemia tyrosine kinase 0.342006
TACSTD2 tumor-associated calcium signal transducer 2 0.312464
ARHGDIB Rho GDP dissociation inhibitor (GDI) beta 0.311377
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 0.308118
CLIC1 chloride intracellular channel 1 0.303781
TNNT2 troponin T type 2 (cardiac) 0.303781
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta 0.301976
TNNI3 troponin I type 3 (cardiac) 0.301254
IARS isoleucyl-tRNA synthetase 0.292975
GALC galactosylceramidase 0.280796
MBTPS2 membrane-bound transcription factor peptidase, site 2 0.279367
GM2A GM2 ganglioside activator 0.279011
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) 0.268332
NPC1L1 NPC1-like 1 0.266203
CD34 CD34 molecule 0.264431
SCN9A sodium channel, voltage gated, type IX alpha subunit 0.264077
FABP3 fatty acid binding protein 3, muscle and heart 0.261599
PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 0.256299
TREH trehalase (brush-border membrane glycoprotein) 0.254183
KRT3 keratin 3, type II 0.246799
STYK1 serine/threonine/tyrosine kinase 1 0.241546
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.240847
UBIAD1 UbiA prenyltransferase domain containing 1 0.22454
TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa 0.218715
EEA1 early endosome antigen 1 0.211934
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 0.199033
ITGAV integrin, alpha V 0.19742
ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 0.194865
FBN1 fibrillin 1 0.191719
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.185612
THBS2 thrombospondin 2 0.18472
ICAM1 intercellular adhesion molecule 1 0.184424
MYL2 myosin, light chain 2, regulatory, cardiac, slow 0.182957
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4 0.182375
ATXN7 ataxin 7 0.171286
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha 0.169571
MID2 midline 2 0.166768
HTN3 histatin 3 0.164786
GBE1 glucan (1,4-alpha-), branching enzyme 1 0.164786
LGALS1 lectin, galactoside-binding, soluble, 1 0.164149
CUBN cubilin (intrinsic factor-cobalamin receptor) 0.162505
DHX9 DEAH (Asp-Glu-Ala-His) box helicase 9 0.160948