Hypothesis

1 Matching Annotations

Last 7 days
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  20
  
  Patient20: Male, 22 years report, 12 year onset
  
  CasePresentingHPOs: HP:0001324, HP:0002098 (Muscle weakness, Respiratory distress)
  
  HPOsFreeText: GAA activity 11.6% from leukocyte, Respiratory Assistance needed
  
  CaseNotHPOs: HP:0001640, HP:0002240 (Cardiomegaly, Hepatomegaly)
  
  NotHPOsFreeText: Wheelchair not needed
  
  CaseAddInfo: LOPD
  
  Individual CaseInfo ClinVarID:371305 inferred_gene_hgnc:14674 inferred_gene_source:ClinVar GAA variant
Visit annotations in context

Tags

CaseInfo

inferred_gene_hgnc:14674

ClinVarID:371305

inferred_gene_source:ClinVar

GAA variant

Individual

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5671405/