SYNGAP1 and Alacrima, Achalasia, And Impaired Intellectual Development Syndrome: Association Evidence

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Provenance

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

SYNGAP1

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Alacrima, Achalasia, And Impaired Intellectual Development Syndrome

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Phenotype

32 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Population genetics

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

Mechanism overlap

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Provenance

6 references

Every source and publication cited across this dossier, as one numbered reference list.