UMLS:C0014848 - FACTA Search

Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
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Human Gene/Protein
ADRACALIN	13.5
GDP-mannose pyrophosphorylase A	13.5
achalasia variant	12.5
GMPPA	12.2
AAAS	12.2
POEM	10.7
GUCY1A3	10.1
FGD2	9.9
FGD3	9.7
GP210	9.6
GMPPB	9.4
nuclear pore protein	8.9
MRAP	8.8
TPIT	8.7
COL4A6	8.5
TXNRD2	8.3
NDC1	8.2
thioredoxin reductase 2	8.1
nuclear pore complex protein	8.1
ACTH receptor	8.0
POM121	7.9
HLA-DQB1*05	7.9
melanocortin 2 receptor	7.8
SGPL1	7.8
WD-repeat protein	7.6
HLA DQA1	7.6
complement component C9	7.5
type II keratin	7.4
HLA-DQB1*03	7.3
autosomal recessive)	7.3
LHX4	7.3
DQB1*0603	7.3
GDP-mannose pyrophosphorylase	7.2
HD3	7.1
PABPN1	7.1
DQ1	7.1
LMN	7.0
nitric oxide synthase 1	7.0
KRT8	7.0
FTH1	7.0

Disease
Atypical bulimia nervosa	13.5
NID A	13.5
Rectosigmoid junction	13.5
Rectosigmoid junction	13.5
achalasia	13.5
Primary achalasia	13.1
Heller	12.6
esophageal spasm	12.5
Familial visceral neuropathy	12.5
Esophageal erosions	11.9
Nutcracker esophagus	11.9
Intestinal Dysplasia	11.9
Cricopharyngeal achalasia	11.8
Esophageal dysphagia	11.7
NID B	11.5
megaesophagus	11.4
chalasia	11.2
Inflammatory neuropathy	10.7
Schatzki's ring	10.5
Bulbar weakness	10.5
CISS1	10.5
Pseudocholinesterase deficiency	10.3
esophageal dysmotility	10.3
Oropharyngeal dysphagia	10.1
pyopneumopericardium	10.0
FGD2	9.9
postvagotomy syndrome	9.8
Plummer-Vinson syndrome	9.8
tylosis	9.7
FGD3	9.7
Zenker's diverticulum	9.4
Esophageal perforation	9.4
Squamous cell carcinoma in situ	9.4
Worster-Drought syndrome	9.4
Esophageal	9.3
dysphagia	9.3
Esophagus	9.2
Esophagus	9.2
pylorospasm	9.1
Esophageal leiomyoma	9.0

Enzyme
GDP-mannose pyrophosphorylase	7.0
botulinum neurotoxin	4.6
transhydrogenase	4.0
MCS	3.9
NADPH-diaphorase	3.9
ubiquitin-protein ligase	3.8
dihydropyrimidine dehydrogenase	3.8
dihydropyrimidine dehydrogenase	3.2
dopamine beta-hydroxylase	3.0
PRA	2.8
guanylate cyclase	2.7
prostate-specific membrane antigen	2.7
NOS	2.6
enolase	2.6
NO synthase	2.3
hypoxanthine-guanine phosphoribosyltransferase	2.2
myosin light chain kinase	2.1
protein phosphatase 2A	1.9
granzyme B	1.8
UDP-glucuronosyltransferase	1.8
cholinesterase	1.4
CPR	1.1
acetylcholinesterase	1.0
phosphodiesterase	0.9
glutathione reductase	0.3
ERK	-0.5
DNA polymerase	-0.6
creatine kinase	-0.7
adenylate cyclase	-0.8
renin	-1.7
luciferase	-1.7
alkaline phosphatase	-2.1
protein kinase C	-2.1
catalase	-2.3
peroxidase	-2.5
protein kinase	-2.8
mitogen-activated protein kinase	-3.1