Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient. 29270977 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO