Mitochondrial myopathy

Disease Term Disease ID Gene Symbol References
Mitochondrial Myopathies C0162670 SLC25A4 25732997
CAV3
DGUOK
DNA2
TYMP
IL1A 7979221
IL1B 7979221
IL6 7979221
ATP6
TRNC
COX1
COX2
COX3
CYTB
ND1
ND2
ND3
ND4
ND5
ND6
TRNA 25873012
TRNF
TRNH
TRNK
TRNL1
TRNL2
TRNM
TRNQ
TRNS1
TRNS2
TRNV
TRNW
NDUFA1
NDUFA6
NDUFB3
NDUFB9
NDUFB10
NDUFS1
NDUFS2
NDUFS3
NDUFV1
NDUFS4
NDUFS6
NDUFS8
NDUFV2
POLG
TK2
TNF 7979221
VDAC1 8726225
POLG2
ISCU
NDUFAF3
NDUFAF4
RRM2B 17486094, 19138848
PNPLA8
YARS2
NDUFAF1
TIMMDC1
NDUFB11
MSTO1
FOXRED1
AGK
TMEM126B
TWNK
NDUFAF5
CAMKMT 26247364
NUBPL
PUS1
NDUFAF2
FDX2 24281368, 30010796
NDUFA11
SLC25A42 26541337, 29327420
NDUFS7
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT C3151898 COX3 12414820
CYTB 8988236, 8910895, 11601507, 11464242, 10502593
TRNE 19720722
TRMU 21931168
MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE C1838876 TRNT 1645537
MYOPATHY, MITOCHONDRIAL, AND ATAXIA C4540096 MSTO1 28544275, 28554942, 29339779
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT C4015513 CHCHD10 25193783, 29315381, 24934289, 25833818, 26152333, 29789341, 25681414, 25261972, 28585542, 25113787, 29121267