rs754363068, CPT2

N. diseases: 3
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CUI: C1833511
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
0.700 GeneticVariation CLINVAR Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. 10862092 2000