WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Neurologic Symptoms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.020 GeneticVariation group BEFREE Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. 31796109 2019
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.020 GeneticVariation group BEFREE Wfs1 mutations are responsible for the Wolfram syndrome, characterized by diabetic and neurological symptoms. 30930784 2019