UMLS:C0026850 - FACTA Search

Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
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Human Gene/Protein
glycosyltransferase-like 1B	12.4
AGO61	12.4
35 kDa dystrophin-associated glycoprotein	12.4
spermatogenesis associated 18 homolog	12.4
TNNT1 protein	12.4
FAM71B	12.4
protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase	12.1
PLEC1	11.8
Fukuyama-type congenital muscular dystrophy	11.6
POMT1	11.6
B3GNT1	11.6
merosin	11.5
POMGnT1	11.5
choline kinase beta	11.5
Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase	11.4
fukutin-related protein	11.4
like-glycosyltransferase	11.4
CKMT	11.4
plectin isoform 1a	11.4
CAPN3 protein	11.4
dysferlin variant	11.4
LAMA2	11.4
fukutin	11.4
INPP5K	11.3
POMT2	11.3
LAP1B	11.2
sarcospan	11.0
TOR1AIP1	11.0
35DAG	11.0
UCMD	11.0
Fukutin-related protein	11.0
LARGE2	10.9
LARGE	10.9
LARGE1	10.9
skeletal muscle and kidney enriched inositol phosphatase	10.8
myomesin-3	10.8
LRE2	10.8
DPM3	10.8
Inositol polyphosphate-5-phosphatase	10.8
zeta-sarcoglycan	10.8

Disease
Dystrophic cardiomyopathy	12.4
cerebro-oculo-muscular syndrome	12.4
Shoulder weakness	12.4
MD-EBS	12.4
muscular dystrophy	12.4
myopathy; oculopharyngeal	12.4
Myosclerosis	12.4
Type II lissencephaly	12.1
MDC1A	11.9
MDC1C	11.8
Severe childhood autosomal recessive muscular dystrophy	11.7
Fukuyama congenital muscular dystrophy	11.6
MDC1D	11.6
Hygroma colli	11.4
Uterine dysfunction	11.4
EDMD2	11.3
CMD1A	11.2
LGMD1B	11.2
LGMD2I	11.2
Congenital muscular dystrophy	11.0
LGMD2H	10.9
Interstitial myositis	10.8
Metabolic myopathy	10.8
Upper motor neuron disease	10.8
Xp21-linked muscular dystrophy	10.8
Nutritional muscular dystrophy	10.8
LGMD2J	10.8
Landouzy	10.8
limb-girdle muscular dystrophy	10.8
Distal Myopathy	10.6
LGMD2B	10.5
LGMD2C	10.5
LGMD1C	10.5
LGMD2A	10.4
Malouf syndrome	10.4
LGMD2K	10.4
Thromboembolic meningoencephalitis	10.4
FSHD1B	10.4
histidinuria	10.4
Multiple joint contractures	10.1

Symptom
Flaccid dysarthria	11.4
impaired body balance	10.1
benign congenital hypotonia	9.2
Muscle fibrosis	9.1
Fatigability	8.0
abiotrophy	7.1
hypotonia	6.9
growing pains	6.8
weakness	6.7
Hyperekplexia	6.0
respiratory problem	5.7
muscle stiffness	5.6
Exercise intolerance	5.6
Joint hypermobility	5.4
bigeminal	5.4
pachyonychia	4.9
abnormal gait	4.8
cachexia	4.7
giddiness	4.7
giddiness	4.7
ophthalmoplegia	4.6
muscle cramps	4.6
orthopnea	4.6
rundown	4.4
body pain	4.3
autodigestion	4.1
torticollis	4.1
hypersomnia	4.0
muscle rigidity	3.9
myalgia	3.9
twitching	3.7
fasciculation	3.7
asthenia	3.6
cerebellar ataxia	3.6
loss of balance	3.6
Halo	3.6
hypercapnia	3.5
Respiratory symptoms	3.5
syncopal episodes	3.4
Decreased activity	3.3

Enzyme
calpain 4	10.4
calpain 3	10.3
calpain 3	9.9
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase	9.8
L-glycol dehydrogenase	9.8
N-acetylglucosaminyltransferase	7.7
choline kinase	7.1
galactosylhydroxylysyl glucosyltransferase	7.0
CMP-Neu5Ac hydroxylase	6.9
EC 2.4.1.11	6.8
creatine kinase	6.8
acylglycerol kinase	6.7
serum carnosinase	6.6
phosphoinositide 5-phosphatase	6.5
calpain 10	6.4
C1 esterase	6.3
guanidinoacetate methyltransferase	6.3
glycine amidinotransferase	6.1
glycerol kinase	6.1
polypeptide N-acetylgalactosaminyltransferase	5.9
cancer procoagulant	5.9
nicotinamide N-methyltransferase	5.9
LIS	5.7
phosphatidylethanolamine N-methyltransferase	5.6
cathepsin C	5.4
m-calpain	5.3
N-acetylgalactosaminidase	5.3
iodothyronine 5'-deiodinase	5.3
hepsin	5.2
hepsin	5.2
aldolase	5.2
nucleoside diphosphokinase	5.1
mu-calpain	5.0
adenylosuccinate lyase	4.9
phosphatidylserine decarboxylase	4.8
N-acetylglucosaminyltransferase I	4.8
dihydropteridine reductase	4.7
mannosidase I	4.7
phosphatidate phosphatase	4.7
GM3 synthase	4.7