Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 246329
Gene Symbol: STAC3
STAC3
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 GeneticVariation BEFREE Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). 28777491

2017
Entrez Id: 246329
Gene Symbol: STAC3
STAC3
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 Biomarker HPO