Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY	156 C1829703 MESH:C535588 MONDO:0009705	CPT1A	Causal	12189492 15363638 16146704 16169268 20301700 7014807 7892212 9691089	CTD ClinGen ClinVar Disgenet GWAS catalog Orphanet
CARNITINE PALMITOYL TRANSFERASE 2 DEFICIENCY	C0342790	CPT2	Unknown	—	Disgenet
CARNITINE PALMITOYL TRANSFERASE 2 DEFICIENCY	C0342790	CZIB	Unknown	—	Disgenet
CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM	228302 MONDO:0009704	CPT2	Causal	—	ClinVar GenCC Orphanet
CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM	228308 MONDO:0012136	CPT2	Causal	10090476 10873395 12673791 12707442 15622536 15642848 16781677 16996287 18306170 19762733 21913903 600650	ClinVar GWAS catalog Orphanet
CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM	228305 MONDO:0010914	CPT2	Causal	—	ClinVar GenCC Orphanet
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY	255120	CPT1A	Unknown	—	HPO
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY	MONDO:0015515	CPT2	Causal	—	ClinGen ClinVar GenCC
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	600649 C1833511 MESH:C563462	CPT2	Unknown	—	CTD Disgenet HPO
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	C1833508 MESH:C563461	CPT2	Unknown	—	CTD Disgenet
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	608836 C1833518 MESH:C563463	CPT2	Unknown	—	CTD Disgenet HPO
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED	255110	CPT2	Unknown	—	HPO

Carnitine palmitoyltransferase deficiency