Carnitine palmitoyl transferase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Carnitine palmitoyl transferase 1A deficiency 156, C1829703 CPT1A Causal Pathogenic evidence from ClinVar 7014807, 7892212, 9691089, 11350182, 11350183, 11441142, 12111367, 12189492, 14517221, 15110323, 15363638, 15669684, 16146704, 16169268, 20696606, 21962599, 27066452 ClinVar
Carnitine palmitoyl transferase 2 deficiency C0342790 CPT2 Causal Pathogenic evidence from ClinVar 1528846, 2647738, 2762996, 7711730, 8358442, 8651281, 8682496, 8786066, 9309694, 9562964, 9600456, 9758712, 10090476, 10398215, 10862092, 12410208, 12560872, 12673791, 12707442, 14605500, 15622536, 15642848, 15776096, 16615913, 16704352, 16781677, 16996287, 17372854, 17936304, 18306170, 18363739, 18550408, 20810031, 21709843, 21913903, 22652984, 22899091, 23184072, 23700290, 24398345, 24602495, 25827434, 26537576, 27629963, 27974123, 28516040, 28801073, 28916721 ClinVar
Carnitine palmitoyl transferase II deficiency, myopathic form 228302 CPT2 Causal Pathogenic evidence from ClinVar - ClinVar
Carnitine palmitoyl transferase II deficiency, neonatal form 228308 CPT2 Causal Pathogenic evidence from ClinVar - ClinVar
Carnitine palmitoyl transferase II deficiency, severe infantile form 228305 CPT2 Causal Pathogenic evidence from ClinVar - ClinVar
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE C1833511 CPT2 Causal Pathogenic evidence from ClinVar 1528846, 7711730, 8358442, 8651281, 8682496, 9562964, 9600456, 9758712, 10090476, 10398215, 10734268, 10862092, 11855939, 12410208, 12673791, 14605500, 14615409, 15363638, 15622536, 15642848, 16602102, 16615913, 16996287, 17936304, 18363739, 18550408, 18577113, 18645163, 18925671, 20543534, 20661589, 20810031, 21227726, 21709843, 21913903, 22841441, 22854105, 22975760, 23184072, 23322164, 23700290, 24398345, 24816252, 25827434, 25919294, 27604308 ClinVar
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET C1833508 CPT2 Causal Pathogenic evidence from ClinVar 1528846, 7711730, 8358442, 8651281, 9600456, 9758712, 10090476, 10862092, 10873395, 11477613, 11855939, 12673791, 14605500, 14615409, 15489334, 15622536, 16602102, 16615913, 16996287, 18363739, 18550408, 21227726, 22854105, 23700290, 25919294 ClinVar
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL C1833518 CPT2 Causal Pathogenic evidence from ClinVar 9600456, 10862092, 11855939, 12673791, 16602102, 16615913, 16996287, 18363739, 18550408, 21227726, 22854105, 23700290, 24816252, 25919294, 27604308 ClinVar