CPT1A, carnitine palmitoyltransferase 1A, 1374

N. diseases: 143; N. variants: 61
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype BEFREE When administrated alone, caffeine (5 and 50 mg/kg) and 8-CPT (1 and 5 mg/kg) significantly decreased seizure threshold, while 100 mg/kg of caffeine, SCH-442416 or sildenafil did not change it. 30391360 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO