CPT1A, carnitine palmitoyltransferase 1A, 1374

N. diseases: 143; N. variants: 61
Disease: Carnitine palmitoyl transferase 1A deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779893091
rs779893091
Entrez Id: 1374
Gene Symbol: CPT1A
CPT1A
CUI: C1829703
Disease:
Carnitine palmitoyl transferase 1A deficiency 		A 0.700 GeneticVariation CLINVAR