Disease Term Disease ID Gene Symbol References
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 C4693741 PMPCB 29576218
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 C3276432 NFU1 22077971, 24777537, 11156534, 25918518, 28906594, 24334290, 28161430, 21944046, 27604308
Multiple Mitochondrial Dysfunctions Syndrome C3502075 NFU1
ISCA1 28356563
ISCA2 25558065, 25539947
IBA57
BOLA3 27604308
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 C4539919 ISCA1 29767723, 28356563, 30105122
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 C4225348 ISCA2 29297947, 29122497, 25539947, 25558065, 29359243
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 C3809165 IBA57 28671726, 23462291, 27785568, 25971455
Multiple mitochondrial dysfunctions syndrome type 3 363424 IBA57
Multiple mitochondrial dysfunctions syndrome type 4 457406 ISCA2
Multiple mitochondrial dysfunctions syndrome type 1 401869 NFU1
Multiple mitochondrial dysfunctions syndrome type 2 401874 BOLA3
Multiple mitochondrial dysfunctions syndrome type 5 569274 ISCA1
Multiple mitochondrial dysfunctions syndrome type 6 569290 PMPCB