Hypothesis

1 Matching Annotations

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

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  F9 (1)
  
  CaseF9: Female, Italy, 48 years diagnosis
  
  CasePresentingHPOs: HP:0001873 (Thrombocytopenia)
  
  HPOsFreeText: World Health Organization bleeding score is 0 (1 members); Mean platelet count is 117 ×10^9/L; Mean platelet volume is 14.4 fL, Mean platelet diameter is 3.3 μm
  
  CaseAddInfo: N/A
  
  Individual CaseInfo CA390181487 inferred_gene_hgnc:163 inferred_gene_source:CAID UNC Biocuration Core
Visit annotations in context

Tags

UNC Biocuration Core

inferred_gene_source:CAID

CA390181487

Individual

CaseInfo

inferred_gene_hgnc:163

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4311232/