MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.110 Biomarker phenotype BEFREE The MCT KD treatment was initiated and rapid seizure control was observed within 6 days despite negative ketosis. 31316173 2019
CUI: C0036572
Disease: Seizures
Seizures
0.110 Biomarker phenotype HPO