Term ID: |
12535 |
Name: |
Abnormal synaptic transmission |
Synonym: |
Abnormality of neurotransmitter metabolism |
Definition: |
An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. |
Comments: |
|
Reference: |
HP:0012535 |
Genes and Diseases: | SELECT DISTINCT 'HP:0012535' AS Input, t2.acc as HPO_ID, t2.name as HPO_term, g.Distance, t1.Entrez_gene AS Gene, t1.Entrez_gene_id AS Gene_id_entrez, t1.HGNC_ID, t1.DiseaseId, t1.DiseaseName, t1.Frequency, t1.Onset
#, t1.ConceptID, Source, t1.Typical_association
, h.Variants AS HGMD_variants, c.variants AS ClinVar_variants
FROM hpo202212.graph_path AS g, hpo202212.term AS t, hpo202212.term AS t2
LEFT JOIN hpo202212.hpo_phenotype_to_genes as t1 ON (t1.HPO = t2.acc)
LEFT JOIN gb_exome.clinvar_variation_latest_sum AS c ON ( c.Gene = t1.Entrez_Gene)
LEFT JOIN gb_exome.hgmd_allmumt_sum_latest AS h ON (h.gene = t1.Entrez_Gene )
WHERE (t.acc ='HP:0012535' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id)
order by g.distance, gene, DiseaseName; | |