gastrointestinal dysmotility Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. (Human Phenotype Ontology, HP_0002579)
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23 genes associated with the gastrointestinal dysmotility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG2 actin, gamma 2, smooth muscle, enteric
C12ORF65 chromosome 12 open reading frame 65
CFM1 cystic fibrosis modifier 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
DHCR7 7-dehydrocholesterol reductase
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FLNA filamin A, alpha
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXP3 forkhead box P3
GMPPA GDP-mannose pyrophosphorylase A
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY2C guanylate cyclase 2C
HMBS hydroxymethylbilane synthase
IDS iduronate 2-sulfatase
POLG polymerase (DNA directed), gamma
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTRF polymerase I and transcript release factor
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
TNXB tenascin XB
TYMP thymidine phosphorylase