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) .

Concepts found in the documents ranked by [ Frequency | Pointwise Mutual Information | Symmetric Conditional Probability ] .
Human Gene/Protein
alpha-galactosidase A 0.083
alpha-galactosidase 0.022
GLA 0.007
X-linked 0.004
X-linked recessive 0.001
Gal 0.001
alpha-N-acetylgalactosaminidase 0.001
Gb3 synthase 0.000
alpha-GalA 0.000
NAGA 0.000
MPS II 0.000
GAL 0.000
glucosylceramide synthase 0.000
TINAGL1 0.000
ESX 0.000
A4GALT 0.000
FUCA1 0.000
MPS VI 0.000
PO42 0.000
alpha-L-fucosidase 0.000
glucocerebrosidase 0.000
Nance-Horan syndrome 0.000
MSPS 0.000
PBF 0.000
vascular endothelium 0.000
aspartylglucosaminidase 0.000
PRKAG2 0.000
Alport syndrome 0.000
forkhead box C1 0.000
CADASIL 0.000
Thrombospondin 2 0.000
SMF 0.000
ADAMTS6 0.000
COL4A1 0.000
Chloride intracellular channel protein 1 0.000
SMSr 0.000
MPS2 0.000
PIP5K3 0.000
aspartylglycosaminuria 0.000
allele b 0.000
mannose-6-phosphate receptor 0.000
chitotriosidase 0.000
CHST6 0.000
CTH 0.000
PON 0.000
UBIAD1 0.000
LacCer synthase 0.000
LAMP2 0.000
imiglucerase 0.000
corneal dystrophy 0.000
keratin 12 0.000
DAAM2 0.000
ubiquitin B 0.000
X-chromosome 0.000
ARHGDIB 0.000
trip 0.000
iduronate-2-sulphatase 0.000
TRPML2 0.000
GALA 0.000
CDK5R1 0.000
MYO5B 0.000
Glucocerebrosidase 0.000
uromodulin 0.000
ITIH4 0.000
hole 0.000
CCD 0.000
Rho GDP dissociation inhibitor alpha 0.000
MPS IIIB 0.000
Sep 0.000
sky 0.000
GFR 0.000
TANGO 0.000
POEM 0.000
chitobiase 0.000
Mol 0.000
CK-3 0.000
Cubilin 0.000
sphingomyelin phosphodiesterase 0.000
CD172a 0.000
SLC4A11 0.000
type XV collagen 0.000
sarcomeric 0.000
TNNT2 0.000
ORM2 0.000
chronic renal failure 0.000
ADH5 0.000
USP15 0.000
acid alpha-glucosidase 0.000
SCN9A 0.000
lamp 0.000
SEC62 0.000
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein 0.000
TRPML1 0.000
FOXN1 0.000
mucolipin 1 0.000
GS-X 0.000
UBB 0.000
lysosomal acid lipase 0.000
cathepsin F 0.000
IDUA 0.000
LAMP-2 0.000
GALC 0.000
MPS-1 0.000
SPP 0.000
TDE 0.000
SMPD1 0.000
GM2 activator protein 0.000
Pericentrin 0.000
MPS IIIA 0.000
TNNI3 0.000
AGA 0.000
X-linked) 0.000
PFK-1 0.000
COL4A3 0.000
IKCa1 0.000
FRMD7 0.000
hexosaminidase A 0.000
LIMP-2 0.000
Prosaposin 0.000
beta-mannosidase 0.000
MYBPC3 0.000
TFI 0.000
ORM1 0.000
KCa3.1 0.000
SRp20 0.000
SFD 0.000
MPS1 0.000
ACS 0.000
X-linked adrenoleukodystrophy 0.000
ABCC5 0.000
MIM 0.000
Lipocalin 2 0.000
mannose 6-phosphate receptor 0.000
MRI 0.000
cubilin 0.000
COL4A2 0.000
GABAB2 0.000
ML1 0.000
FPL 0.000
podocalyxin 0.000
Acid sphingomyelinase 0.000
HED 0.000
DLL1 0.000
Optineurin 0.000
HOXA11 0.000
stiff person syndrome 0.000
prosaposin 0.000
lysosomal protein 0.000
acid ceramidase 0.000
alpha-mannosidase 0.000
sortilin 0.000
megalin 0.000
GM3 synthase 0.000
PRX 0.000
CEL 0.000
MYH7 0.000
fused 0.000
TPM1 0.000
NPL 0.000
MELAS 0.000
more...
Disease
Fabry 1.000
angiokeratoma 0.008
acroparesthesia 0.006
lysosomal storage disease 0.003
hypohidrosis 0.003
Gaucher disease 0.001
fucosidosis 0.001
Cornea verticillata 0.001
AMD 0.001
ventricular hypertrophy 0.000
MPS I 0.000
Niemann-Pick 0.000
Schindler disease 0.000
Krabbe disease 0.000
sphingolipidosis 0.000
proteinuria 0.000
hypertrophic cardiomyopathy 0.000
Fordyce 0.000
gangliosidosis 0.000
enzyme deficiency 0.000
Storage disease 0.000
Angiokeratoma of Fordyce 0.000
MPS II 0.000
metachromatic leukodystrophy 0.000
anhidrosis 0.000
Hurler 0.000
X-linked hereditary disease 0.000
Danon disease 0.000
mucopolysaccharidosis 0.000
Tay-Sachs disease 0.000
cystinosis 0.000
cardiomyopathy 0.000
Sandhoff disease 0.000
MPS VI 0.000
renal failure 0.000
erosio interdigitalis blastomycetica 0.000
chylomicron retention disease 0.000
Disorders of mitochondrial metabolism 0.000
GM1 gangliosidosis 0.000
Generalized hyperhidrosis 0.000
GM1 gangliosidosis, type 1 0.000
glycosphingolipidoses 0.000
mannosidosis 0.000
Multiple renal cysts 0.000
renal disease 0.000
Campbell de Morgan spots 0.000
Extragenital lichen sclerosus 0.000
GM2 gangliosidosis 0.000
Pearly penile papules 0.000
Niemann-Pick disease type A 0.000
Angiokeratoma circumscriptum 0.000
CARASIL 0.000
Perichondritis 0.000
Primary erythromelalgia 0.000
WDM 0.000
metabolic disorder 0.000
Alport syndrome 0.000
Aspartylglucosaminuria 0.000
genetic disorder 0.000
CADASIL 0.000
Refsum disease 0.000
Morquio 0.000
Batten 0.000
amyloidosis 0.000
neuropathy 0.000
cornea 0.000
stroke 0.000
Primary focal hyperhidrosis 0.000
sialidosis 0.000
arteriopathy 0.000
Pulmonary amyloidosis 0.000
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 0.000
cholesterol ester storage disease 0.000
Farber 0.000
MOPD II 0.000
corneal dystrophy 0.000
neuronal ceroid lipofuscinosis 0.000
Mucolipidosis 0.000
lipidosis 0.000
Hurler-Scheie syndrome 0.000
Richner-Hanhart syndrome 0.000
restrictive cardiomyopathy 0.000
Algodystrophy 0.000
pompholyx 0.000
Wolman disease 0.000
chronic renal failure 0.000
Loeffler's endocarditis 0.000
erythrasma 0.000
disorders of amino acid metabolism 0.000
Scheie 0.000
NAGS deficiency 0.000
renal insufficiency 0.000
leukoencephalopathy 0.000
leukodystrophy 0.000
oxalosis 0.000
CCD 0.000
Salla disease 0.000
Proteinuria 0.000
lipid disorder 0.000
Mirror movements 0.000
Ichthyosis vulgaris 0.000
glomerulosclerosis 0.000
Ross syndrome 0.000
hypertensive cardiomyopathy 0.000
CCD 0.000
AB variant 0.000
glycogen storage disease 0.000
Sanfilippo 0.000
Kufs' disease 0.000
Inborn errors of metabolism 0.000
Hers 0.000
Zimmermann-Laband syndrome 0.000
Neuralgic amyotrophy 0.000
primary hyperoxaluria 0.000
Ehlers-Danlos syndrome type IV 0.000
NPC 0.000
polycystic kidney 0.000
heart failure 0.000
cystathioninuria 0.000
Conduction disorders 0.000
lens opacity 0.000
homocystinuria 0.000
acrocyanosis 0.000
Hypertrophic cardiomyopathy 0.000
peripheral neuropathy 0.000
Ellis-van Creveld syndrome 0.000
IgA nephropathy 0.000
Cutis marmorata 0.000
Localized amyloidosis 0.000
renal impairment 0.000
MPS IIIA 0.000
abdominal migraine 0.000
familial dysautonomia 0.000
microalbuminuria 0.000
ornithine transcarbamylase deficiency 0.000
Chronic intestinal pseudo-obstruction 0.000
Tauri 0.000
Pelizaeus-Merzbacher 0.000
Bazex syndrome 0.000
Pituitary gland 0.000
Pituitary gland 0.000
Pituitary gland 0.000
MPS VII 0.000
Mendelian disorders 0.000
Sanfilippo syndrome 0.000
telangiectasia 0.000
corneal degeneration 0.000
Lowe syndrome 0.000
osteodysplastic primordial dwarfism 0.000
hemolytic uremic syndrome 0.000
Pelizaeus-Merzbacher disease 0.000
systemic disease 0.000
psychological impairment 0.000
Familial amyloid polyneuropathy 0.000
Taybi 0.000
sarcoidosis 0.000
HND 0.000
Crohn's ileitis 0.000
alcoholic neuropathy 0.000
SFD 0.000
more...
Symptom
Excruciating pain 0.000
Gastrointestinal signs and symptoms 0.000
Unexplained abdominal pain 0.000
sense loss 0.000
neurological pain 0.000
Stable angina pectoris 0.000
Burning pain 0.000
pain 0.000
Gastrointestinal symptoms 0.000
growing pains 0.000
Skin symptoms 0.000
paresthesia 0.000
Musculoskeletal symptoms 0.000
limb pain 0.000
bewilderment 0.000
rigors 0.000
Burning 0.000
tinnitus 0.000
exertional chest pain 0.000
abdominal pain 0.000
vertigo 0.000
generalized pain 0.000
hand pain 0.000
livedo 0.000
fever of unknown origin 0.000
arthralgia 0.000
atypical chest pain 0.000
Psychiatric symptoms 0.000
exertional angina 0.000
Physical findings 0.000
diarrhea 0.000
Neuropathic pain 0.000
dizziness 0.000
syncope 0.000
eds 0.000
dyspnea 0.000
numbness 0.000
excessive sweating 0.000
acute pain 0.000
Wind 0.000
regurgitation 0.000
weakness 0.000
leg edema 0.000
CSR 0.000
thinning 0.000
hepatosplenomegaly 0.000
bloating 0.000
polyuria 0.000
chest tightness 0.000
neuralgia 0.000
headache 0.000
angina 0.000
exertional dyspnea 0.000
general problem 0.000
clubbing 0.000
muscle cramps 0.000
blurred vision 0.000
neurological disability 0.000
nausea 0.000
dysesthesia 0.000
dry skin 0.000
blepharospasm 0.000
vomiting 0.000
myoclonus 0.000
chest pain 0.000
Mills 0.000
tingling 0.000
fasciculation 0.000
ophthalmoplegia 0.000
dysarthria 0.000
fatigue 0.000
ataxia 0.000
hemiplegia 0.000
collapse 0.000
hip pain 0.000
chronic cough 0.000
leg pain 0.000
flank pain 0.000
polydipsia 0.000
facial pain 0.000
splenomegaly 0.000
cachexia 0.000
pallor 0.000
hepatomegaly 0.000
paraparesis 0.000
flushing 0.000
myalgia 0.000
bone pain 0.000
sleepiness 0.000
memory loss 0.000
anesthesia 0.000
constipation 0.000
wheezing 0.000
seizures 0.000
shortness of breath 0.000
erythema 0.000
anorexia 0.000
spasticity 0.000
hypercapnia 0.000
tremor 0.000
nausea and vomiting 0.000
cough 0.000
discomfort 0.000
Ill 0.000
overweight 0.000
stigma 0.000
hypothermia 0.000
discomfort 0.000
starvation 0.000
analgesia 0.000
Drug
Fabrazyme 0.005
Agalsidase alfa 0.001
Migalastat hydrochloride 0.001
Cerezyme 0.000
Cerezyme 0.000
Myozyme 0.000
Senicapoc 0.000
Ambroxol hydrochloride 0.000
Aldurazyme 0.000
Aldurazyme 0.000
Idursulfase 0.000
Miglustat 0.000
Urso 0.000
Cordarone 0.000
Cordarone 0.000
Ceredase 0.000
Lomotil 0.000
Lomotil 0.000
ZnO 0.000
NYS 0.000
Orphan 0.000
Ranitidine hydrochloride 0.000
SPP 0.000
SiO2 0.000
Dilantin 0.000
SF6 0.000
Dermatol 0.000
Helium 0.000
Gramicidin 0.000
Palmitoyl 0.000
IPD 0.000
Cantor 0.000
Cardiovasc 0.000
TiO2 0.000
Galactose 0.000
Orion 0.000
KGF 0.000
Nephron 0.000
Amiloride 0.000
Gelfoam 0.000
Amiloride 0.000
Rosiglitazone 0.000
Nephron 0.000
DBS 0.000
TAT 0.000
Vitamin B12 0.000
Vitamin B 0.000
ZnCl2 0.000
ZnCl2 0.000
Phenytoin 0.000
nitroglycerin 0.000
BH4 0.000
Bayer 0.000
VCR 0.000
Ranitidine 0.000
Gelatin 0.000
Dial 0.000
ROC 0.000
ACT 0.000
G418 0.000
Fluorescein 0.000
MOF 0.000
NH3 0.000
Fluorescein 0.000
lactose 0.000
Portal 0.000
Albumin 0.000
CSF 0.000
Angiotensin II 0.000
Asn 0.000
CAM 0.000
Mutagen 0.000
EPA 0.000
vitamin E 0.000
lysine 0.000
Leaf 0.000
NADH 0.000
Enzyme
alpha-galactosidase 0.052
ceramide trihexosidase 0.001
alpha-N-acetylgalactosaminidase 0.000
glucosylceramide synthase 0.000
glucocerebrosidase 0.000
aspartylglucosaminidase 0.000
alpha-L-fucosidase 0.000
N-acetylgalactosaminidase 0.000
alpha-L-fucosidase 0.000
alpha-L-fucosidase 0.000
FTR 0.000
cathepsin F 0.000
galactocerebrosidase 0.000
SOI 0.000
ACS 0.000
alpha-N-acetylglucosaminidase 0.000
hexosaminidase 0.000
arabinosidase 0.000
alpha-mannosidase 0.000
beta-glucosidase 0.000
NPL 0.000
beta-glucosidase 0.000
beta-galactosidase 0.000
iduronate-2-sulfatase 0.000
HK2 0.000
CDH 0.000
sulfatase 0.000
alpha-glucosidase 0.000
arylsulfatase A 0.000
PAM 0.000
adenine phosphoribosyltransferase 0.000
ascorbate oxidase 0.000
FPS 0.000
alpha-L-iduronidase 0.000
PMT 0.000
mannanase 0.000
prolidase 0.000
21-hydroxylase 0.000
lecithin:cholesterol acyltransferase 0.000
aromatic L-amino acid decarboxylase 0.000
galactokinase 0.000
branching enzyme 0.000
neutral sphingomyelinase 0.000
acyl-CoA dehydrogenase 0.000
galactose oxidase 0.000
PAT 0.000
pyruvate dehydrogenase 0.000
pyruvate dehydrogenase 0.000
trehalase 0.000
glucoamylase 0.000
TAT 0.000
15-lipoxygenase 0.000
beta-glucuronidase 0.000
carboxypeptidase Y 0.000
PCE 0.000
pyruvate dehydrogenase 0.000
dopamine beta-hydroxylase 0.000
acyl-CoA dehydrogenase 0.000
acid phosphatase 0.000
sialyltransferase 0.000
sialyltransferase 0.000
sialyltransferase 0.000
dipeptidyl peptidase IV 0.000
endonuclease 0.000
paraoxonase 0.000
methylenetetrahydrofolate reductase 0.000
methylenetetrahydrofolate reductase 0.000
phosphoglycerate kinase 0.000
chondroitinase 0.000
matrix metalloproteinase 9 0.000
soluble epoxide hydrolase 0.000
neuraminidase 0.000
CDR 0.000
phosphorylase 0.000
hypoxanthine-guanine phosphoribosyltransferase 0.000
sialidase 0.000
asparaginase 0.000
tryptase 0.000
AMPK 0.000
renin 0.000
ACE 0.000
glucose-6-phosphatase 0.000
STR 0.000
NOS 0.000
granzyme B 0.000
CD13 0.000
enolase 0.000
phosphofructokinase 0.000
complex I 0.000
peroxidase 0.000
cathepsin D 0.000
cathepsin B 0.000
heme oxygenase 0.000
MMP 0.000
glyceraldehyde-3-phosphate dehydrogenase 0.000
glyceraldehyde-3-phosphate dehydrogenase 0.000
MDR 0.000
PAH 0.000
citrate synthase 0.000
CPT 0.000
malate dehydrogenase 0.000
glyceraldehyde-3-phosphate dehydrogenase 0.000
urokinase-type plasminogen activator 0.000
alpha-amylase 0.000
AMPK 0.000
glyceraldehyde-3-phosphate dehydrogenase 0.000
AMP-activated protein kinase 0.000
P-glycoprotein 0.000
luciferase 0.000
glyceraldehyde-3-phosphate dehydrogenase 0.000
prostate-specific antigen 0.000
focal adhesion kinase 0.000
APC 0.000
caspase-9 0.000
thymidine kinase 0.000
glucose-6-phosphate dehydrogenase 0.000
lipase 0.000
phosphodiesterase 0.000
alcohol dehydrogenase 0.000
superoxide dismutase 0.000
transcriptase 0.000
glutathione reductase 0.000
glutathione peroxidase 0.000
CD10 0.000
NADPH oxidase 0.000
trypsin 0.000
phosphatidylinositol 3-kinase 0.000
NADPH oxidase 0.000
reverse transcriptase 0.000
ERK 0.000
NO synthase 0.000
RNase 0.000
phospholipase C 0.000
creatine kinase 0.000
catalase 0.000
proteasome 0.000
lactate dehydrogenase 0.000
RNA polymerase 0.000
protein kinase 0.000
alkaline phosphatase 0.000
ATPase 0.000
mitogen-activated protein kinase 0.000
Compound
Gb3 0.013
GAL 0.002
silicon 0.000
Galabiosylceramide 0.000
Trihexosylceramide 0.000
Letter 0.000
Fludrocortisone acetate 0.000
DNFB 0.000
GM1 0.000
GM2 0.000
Dec 0.000
Tricin 0.000
silver 0.000
1-dodecene 0.000
phenyl salicylate 0.000
Miglitol 0.000
DMDP 0.000
Cer 0.000
Disperse Red 1 0.000
creatinine 0.000
Vidarabine 0.000
germanium 0.000
3-Nitrotyrosine 0.000
galactose 0.000
glucose-6-phosphate 0.000
Gb4 0.000
rubidium 0.000
aluminum 0.000
cycloheptane 0.000
CH3F 0.000
COS 0.000
TDE 0.000
ACS 0.000
ACS 0.000
Glucosylceramide 0.000
Clin 0.000
15(S)-HETE 0.000
CD 3 0.000
SiO2 0.000
CBN 0.000
CDH 0.000
ASE 0.000
Amiodarone 0.000
Aspartame 0.000
boron 0.000
12(S)-HETE 0.000
Ara-A 0.000
water 0.000
MoSe2 0.000
Cardiol 0.000
Lansoprazole 0.000
tungsten 0.000
MgO 0.000
IPD 0.000
Pyrimethamine 0.000
ADMA 0.000
GM3 0.000
Microcystin-LR 0.000
His 0.000
nitrogen 0.000
Pyridoxine 0.000
PMT 0.000
PAM 0.000
MoO3 0.000
DNA 0.000
GalNAc 0.000
Teicoplanin 0.000
SOA 0.000
CDT 0.000
DDD 0.000
Chloroquine 0.000
Chloroquine 0.000
titanium 0.000
isopropanol 0.000
Galactose 0.000
Xylose 0.000
Hydroxychloroquine 0.000
HBr 0.000
Sertraline 0.000
iodine 0.000
DMD 0.000
Sphingomyelin 0.000
beta-D-galactoside 0.000
Tigecycline 0.000
MES 0.000
MES 0.000
2,5-dihydroxybenzoic acid 0.000
2,5-dihydroxybenzoic acid 0.000
tin 0.000
NBS 0.000
PAM 0.000
PAM 0.000
Argentine 0.000
Daptomycin 0.000
hydrogen 0.000
TDI 0.000
2,5-dihydroxybenzoic acid 0.000
PAA 0.000
TCE 0.000
methanol 0.000
Amiloride 0.000
Thioflavin T 0.000
oxygen 0.000
copper 0.000
acetone 0.000
MNNG 0.000
2,5-hexanedione 0.000
m-xylene 0.000
2-propanol 0.000
2-propanol 0.000
chloroform 0.000
LSD 0.000
cholestane 0.000
molybdenum 0.000
cholestane 0.000
cholestane 0.000
PAT 0.000
Rhodamine 6G 0.000
Rhodamine 6G 0.000
phosphate 0.000
Rhodamine 6G 0.000
C2H2 0.000
LCR 0.000
BNP 0.000
1-propanol 0.000
ethanol 0.000
acrylic acid 0.000
4-vinylpyridine 0.000
4-methylphenyl 0.000
DBS 0.000
Mannose 0.000
Trichloroethylene 0.000
Vincristine 0.000
DCM 0.000
homocysteine 0.000
DPI 0.000
urea 0.000
Hypo 0.000
CAA 0.000
palmitic acid 0.000
NKT 0.000
Carnitine 0.000
UDP-glucose 0.000
H2S 0.000
keratan sulfate 0.000
PCE 0.000
H2S 0.000
Homocysteine 0.000
Homocysteine 0.000
perylene 0.000
glutamine 0.000
GGG 0.000
methane 0.000
mercury 0.000
TBP 0.000
MCH 0.000
Acetone 0.000
Optimal 0.000
dodecane 0.000
octyl 0.000
more...