Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds) .

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Human Gene/Protein
alpha-galactosidase A 12.3
alpha-galactosidase 10.8
alpha-GalA 10.7
GLA 10.4
TINAGL1 10.1
Gb3 synthase 10.0
alpha-N-acetylgalactosaminidase 9.7
A4GALT 9.6
PO42 9.5
NAGA 9.4
FUCA1 9.0
MSPS 8.9
Nance-Horan syndrome 8.6
Thrombospondin 2 8.5
ADAMTS6 8.3
SMSr 8.2
forkhead box C1 8.2
Chloride intracellular channel protein 1 8.2
MPS2 8.1
PIP5K3 8.1
X-linked recessive 8.1
allele b 7.9
aspartylglycosaminuria 7.9
CHST6 7.8
PRKAG2 7.8
aspartylglucosaminidase 7.8
LacCer synthase 7.7
UBIAD1 7.7
X-linked 7.6
MPS II 7.6
MPS VI 7.6
keratin 12 7.6
DAAM2 7.6
ubiquitin B 7.5
glucosylceramide synthase 7.5
PBF 7.5
ARHGDIB 7.5
iduronate-2-sulphatase 7.4
CTH 7.3
TRPML2 7.3
CDK5R1 7.2
MYO5B 7.2
GAL 7.1
CADASIL 7.1
ESX 7.1
SMF 7.1
COL4A1 7.1
ITIH4 7.1
Rho GDP dissociation inhibitor alpha 7.0
Glucocerebrosidase 7.0
Gal 6.9
TANGO 6.8
GALA 6.8
MPS IIIB 6.7
mannose-6-phosphate receptor 6.7
chitotriosidase 6.7
LAMP2 6.7
alpha-L-fucosidase 6.6
CK-3 6.6
sphingomyelin phosphodiesterase 6.6
Cubilin 6.6
SLC4A11 6.6
POEM 6.5
type XV collagen 6.5
chitobiase 6.5
Alport syndrome 6.5
ORM2 6.4
USP15 6.4
ADH5 6.4
imiglucerase 6.3
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein 6.3
SEC62 6.3
PON 6.2
FOXN1 6.2
TNNT2 6.2
uromodulin 6.2
mucolipin 1 6.2
GS-X 6.2
SCN9A 6.1
UBB 6.1
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Disease
Fabry 12.5
Cornea verticillata 12.5
acroparesthesia 11.9
Storage disease 11.5
angiokeratoma 11.1
Angiokeratoma of Fordyce 10.7
Schindler disease 10.5
erosio interdigitalis blastomycetica 10.5
Disorders of mitochondrial metabolism 10.5
hypohidrosis 10.2
GM1 gangliosidosis, type 1 10.1
Generalized hyperhidrosis 10.1
X-linked hereditary disease 10.0
Multiple renal cysts 9.9
fucosidosis 9.7
Extragenital lichen sclerosus 9.7
Pearly penile papules 9.5
Campbell de Morgan spots 9.4
sphingolipidosis 9.4
Angiokeratoma circumscriptum 9.3
glycosphingolipidoses 9.2
Fordyce 9.2
Perichondritis 9.1
Primary erythromelalgia 9.1
lysosomal storage disease 9.1
chylomicron retention disease 9.1
CARASIL 8.9
Danon disease 8.7
Niemann-Pick disease type A 8.5
Primary focal hyperhidrosis 8.2
gangliosidosis 8.2
MPS I 8.2
Pulmonary amyloidosis 8.1
Gaucher disease 8.1
GM1 gangliosidosis 7.9
AMD 7.9
anhidrosis 7.9
Batten 7.8
MOPD II 7.8
MPS VI 7.8
GM2 gangliosidosis 7.8
Sandhoff disease 7.7
cholesterol ester storage disease 7.7
MPS II 7.7
Krabbe disease 7.7
Mucolipidosis 7.7
cystinosis 7.6
Hurler 7.6
Aspartylglucosaminuria 7.6
mannosidosis 7.6
Hurler-Scheie syndrome 7.6
Algodystrophy 7.5
Loeffler's endocarditis 7.4
NAGS deficiency 7.4
Niemann-Pick 7.4
enzyme deficiency 7.3
Richner-Hanhart syndrome 7.3
WDM 7.2
metachromatic leukodystrophy 7.2
Mirror movements 7.2
Ichthyosis vulgaris 7.2
erythrasma 7.2
disorders of amino acid metabolism 7.2
CADASIL 7.2
mucopolysaccharidosis 7.1
Ross syndrome 7.1
AB variant 7.1
Salla disease 7.1
pompholyx 7.0
sialidosis 7.0
Tay-Sachs disease 6.9
hypertensive cardiomyopathy 6.9
Refsum disease 6.9
Hers 6.8
Morquio 6.8
Zimmermann-Laband syndrome 6.8
Neuralgic amyotrophy 6.8
Kufs' disease 6.7
Wolman disease 6.7
Scheie 6.7
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Symptom
Excruciating pain 10.5
Gastrointestinal signs and symptoms 9.7
Unexplained abdominal pain 9.3
sense loss 9.1
neurological pain 8.6
Stable angina pectoris 8.3
Burning pain 8.2
growing pains 6.8
Skin symptoms 6.4
Gastrointestinal symptoms 6.3
Musculoskeletal symptoms 5.7
bewilderment 5.6
Burning 5.2
exertional chest pain 5.1
limb pain 5.1
generalized pain 4.8
rigors 4.8
hand pain 4.8
livedo 4.3
atypical chest pain 4.1
Psychiatric symptoms 4.1
paresthesia 4.1
Physical findings 4.1
exertional angina 3.9
fever of unknown origin 3.8
Neuropathic pain 3.6
eds 3.4
tinnitus 3.4
excessive sweating 3.3
vertigo 3.1
leg edema 3.1
CSR 3.0
arthralgia 3.0
chest tightness 2.9
bloating 2.8
general problem 2.7
neuralgia 2.7
Wind 2.7
clubbing 2.7
muscle cramps 2.6
neurological disability 2.6
dysesthesia 2.6
acute pain 2.5
dry skin 2.5
polyuria 2.5
blepharospasm 2.5
numbness 2.4
blurred vision 2.4
dizziness 2.4
hepatosplenomegaly 2.4
exertional dyspnea 2.3
syncope 2.3
pain 2.2
abdominal pain 2.2
Mills 2.1
tingling 2.1
fasciculation 2.1
regurgitation 2.0
myoclonus 2.0
thinning 1.8
ophthalmoplegia 1.8
hip pain 1.7
dysarthria 1.6
hemiplegia 1.5
dyspnea 1.5
chronic cough 1.5
leg pain 1.5
flank pain 1.4
polydipsia 1.4
diarrhea 1.3
facial pain 1.3
angina 1.3
chest pain 1.2
pallor 1.2
nausea 1.1
weakness 1.1
paraparesis 1.0
cachexia 1.0
hepatomegaly 1.0
bone pain 0.9
more...
Drug
Migalastat hydrochloride 12.5
Fabrazyme 12.4
Agalsidase alfa 11.9
Cerezyme 9.3
Myozyme 8.6
Cerezyme 8.6
Senicapoc 8.5
Ambroxol hydrochloride 8.4
Aldurazyme 8.3
Aldurazyme 8.3
Idursulfase 8.1
Urso 7.8
Cordarone 7.5
Miglustat 7.4
Cordarone 7.3
Ceredase 7.3
Lomotil 7.3
Lomotil 7.2
NYS 6.7
Ranitidine hydrochloride 6.4
Orphan 5.7
SPP 5.5
Dilantin 5.1
Gramicidin 4.3
Palmitoyl 4.3
SF6 4.3
IPD 4.2
Helium 4.2
Cantor 3.9
ZnO 3.9
SiO2 3.6
Orion 3.6
KGF 3.5
Galactose 3.4
Gelfoam 2.9
Amiloride 2.9
Rosiglitazone 2.8
DBS 2.7
Amiloride 2.6
TAT 2.2
Vitamin B12 2.2
Vitamin B 2.2
TiO2 2.2
ZnCl2 2.1
ZnCl2 2.1
Phenytoin 2.1
Nephron 1.9
BH4 1.9
Bayer 1.8
VCR 1.8
Ranitidine 1.8
Gelatin 1.7
ACT 1.4
nitroglycerin 1.3
Nephron 1.3
G418 1.3
ROC 1.1
Fluorescein 1.1
MOF 0.9
NH3 0.7
Fluorescein 0.6
Dermatol 0.4
Portal 0.4
Dial 0.4
Cardiovasc 0.3
Albumin 0.2
Angiotensin II 0.1
lactose 0.0
CAM -0.0
Asn -0.1
Mutagen -0.1
EPA -0.3
CSF -0.5
vitamin E -0.6
lysine -1.8
Leaf -1.9
NADH -2.0
Enzyme
ceramide trihexosidase 11.9
alpha-galactosidase 11.2
alpha-N-acetylgalactosaminidase 9.1
aspartylglucosaminidase 7.7
glucosylceramide synthase 7.6
N-acetylgalactosaminidase 7.4
FTR 6.7
glucocerebrosidase 6.5
cathepsin F 6.5
alpha-L-fucosidase 6.4
alpha-L-fucosidase 6.1
alpha-L-fucosidase 6.0
SOI 5.8
galactocerebrosidase 5.8
alpha-N-acetylglucosaminidase 5.6
arabinosidase 5.2
NPL 4.6
iduronate-2-sulfatase 4.6
HK2 4.3
CDH 4.3
alpha-mannosidase 4.2
arylsulfatase A 4.2
adenine phosphoribosyltransferase 4.0
FPS 4.0
alpha-L-iduronidase 3.9
ascorbate oxidase 3.9
hexosaminidase 3.8
PMT 3.8
beta-glucosidase 3.8
PAM 3.6
beta-glucosidase 3.6
mannanase 3.6
prolidase 3.5
sulfatase 3.4
aromatic L-amino acid decarboxylase 3.4
21-hydroxylase 3.3
lecithin:cholesterol acyltransferase 3.2
alpha-glucosidase 3.2
galactokinase 3.2
branching enzyme 3.2
neutral sphingomyelinase 3.1
acyl-CoA dehydrogenase 2.8
galactose oxidase 2.8
PAT 2.7
trehalase 2.6
beta-galactosidase 2.5
glucoamylase 2.4
pyruvate dehydrogenase 2.3
15-lipoxygenase 2.3
pyruvate dehydrogenase 2.3
TAT 2.2
carboxypeptidase Y 2.1
PCE 2.1
dopamine beta-hydroxylase 2.0
acyl-CoA dehydrogenase 2.0
ACS 1.9
sialyltransferase 1.9
sialyltransferase 1.9
sialyltransferase 1.9
dipeptidyl peptidase IV 1.8
pyruvate dehydrogenase 1.6
beta-glucuronidase 1.6
paraoxonase 1.4
methylenetetrahydrofolate reductase 1.4
methylenetetrahydrofolate reductase 1.4
phosphoglycerate kinase 1.4
chondroitinase 1.4
matrix metalloproteinase 9 1.4
soluble epoxide hydrolase 1.3
CDR 1.2
hypoxanthine-guanine phosphoribosyltransferase 1.2
acid phosphatase 1.1
sialidase 1.1
asparaginase 1.1
tryptase 1.0
phosphorylase 1.0
glucose-6-phosphatase 0.9
AMPK 0.8
STR 0.8
granzyme B 0.8
more...
Compound
Gb3 10.9
Galabiosylceramide 10.9
Trihexosylceramide 10.5
Fludrocortisone acetate 8.5
GAL 7.9
Tricin 6.8
1-dodecene 6.6
phenyl salicylate 6.6
Miglitol 6.6
DMDP 6.5
Disperse Red 1 6.4
Vidarabine 6.3
3-Nitrotyrosine 6.2
DNFB 6.2
cycloheptane 5.9
Gb4 5.9
CH3F 5.8
TDE 5.8
Glucosylceramide 5.6
Letter 5.5
15(S)-HETE 5.4
GM2 5.4
CD 3 5.4
CBN 5.3
silicon 4.8
Aspartame 4.8
ASE 4.8
Cer 4.8
CDH 4.7
12(S)-HETE 4.6
GM1 4.6
Ara-A 4.6
rubidium 4.5
MoSe2 4.5
Lansoprazole 4.3
germanium 4.3
IPD 4.3
glucose-6-phosphate 4.3
Pyrimethamine 4.2
Amiodarone 4.1
ADMA 4.1
Microcystin-LR 4.0
Pyridoxine 3.9
PMT 3.8
MoO3 3.8
Teicoplanin 3.8
CDT 3.7
Xylose 3.6
Hydroxychloroquine 3.6
Sertraline 3.5
Sphingomyelin 3.5
beta-D-galactoside 3.5
SiO2 3.4
Tigecycline 3.4
Galactose 3.4
GM3 3.4
HBr 3.4
SOA 3.3
DMD 3.3
2,5-dihydroxybenzoic acid 3.3
2,5-dihydroxybenzoic acid 3.3
MgO 3.2
COS 3.2
Chloroquine 3.2
Chloroquine 3.2
Daptomycin 3.2
TDI 3.2
2,5-dihydroxybenzoic acid 3.1
PAM 3.1
TCE 3.1
MES 3.1
MES 3.1
NBS 3.1
Thioflavin T 3.0
DDD 3.0
Argentine 3.0
MNNG 3.0
2,5-hexanedione 3.0
m-xylene 3.0
Amiloride 2.9
more...