Lipoyltransferase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
LIPOYL TRANSFERASE 1 DEFICIENCY
401862C5190588MONDO:0014576
LIPT1 Causal
24777537
ClinVar Disgenet GenCC Orphanet
LIPT2 Unknown
1933869909 28757203 28803783
GWAS catalog
LIPOYLTRANSFERASE 1 DEFICIENCY
616299C4225379OMIM:616299
LIPT1 Unknown — CTD Disgenet HPO
LIPT2 Unknown — Disgenet
MITD1 Unknown — Disgenet