Esophageal Achalasia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. (Human Disease Ontology, DOID_9164)
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18 genes associated with the Esophageal Achalasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACD adrenocortical dysplasia homolog (mouse)
ADRB2 adrenoceptor beta 2, surface
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
IL10 interleukin 10
IL13 interleukin 13
IL1RL1 interleukin 1 receptor-like 1
IL23R interleukin 23 receptor
IL33 interleukin 33
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LTA lymphotoxin alpha
MYO5B myosin VB
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
TNF tumor necrosis factor
VIPR1 vasoactive intestinal peptide receptor 1