Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pena-Shokeir syndrome type I
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
0.800 GeneticVariation UNIPROT
Pena-Shokeir syndrome type I
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
0.800 CausalMutation CLINVAR
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
0.700 GeneticVariation CLINVAR
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
0.700 GeneticVariation CLINVAR
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 GeneticVariation CLINVAR
Stridor
CUI: C0038450
Disease: Stridor
0.700 GeneticVariation CLINVAR