UMLS:C0002986 - FACTA Search

Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
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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
forkhead box C1	8.2
SMSr	8.2
Chloride intracellular channel protein 1	8.2
PIP5K3	8.1
MPS2	8.1
X-linked recessive	8.1
allele b	7.9
aspartylglycosaminuria	7.9
CHST6	7.8
PRKAG2	7.8
aspartylglucosaminidase	7.8
UBIAD1	7.7
LacCer synthase	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

Disease
Cornea verticillata	12.5
Fabry	12.5
acroparesthesia	11.9
Storage disease	11.5
angiokeratoma	11.1
Angiokeratoma of Fordyce	10.7
Schindler disease	10.5
Disorders of mitochondrial metabolism	10.5
erosio interdigitalis blastomycetica	10.5
hypohidrosis	10.2
Generalized hyperhidrosis	10.1
GM1 gangliosidosis, type 1	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
Primary erythromelalgia	9.1
Perichondritis	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

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

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