DOK7, docking protein 7, 285489

N. diseases: 108; N. variants: 35
Disease: Ptosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker disease BEFREE The purpose of this study was to review our population of DOK7 CMS patients with congenital stridor and assess whether there were other phenotypic features which might raise suspicion of a diagnosis of CMS in the neonatal period, in the absence of limb weakness and ptosis and prompt earlier referral for neurophysiological investigation, genetic diagnosis and appropriate treatment. 20554332 2010
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker disease HPO