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Entry Name Description Category Pathway Gene
H00469 Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations ... Inherited metabolic disorder, Mitochondrial disease (MTDPS1) TYMP [HSA:1890] [KO:K00758]
(MTDPS2) TK2 [HSA:7084] [KO:K00857]
(MTDPS3) DGUOK [HSA:1716] [KO:K00904]
(MTDPS4A/4B) POLG [HSA:5428] [KO:K02332]
(MTDPS5) SUCLA2 [HSA:8803] [KO:K01900]
(MTDPS6) MPV17 [HSA:4358] [KO:K13348]
(MTDPS7) TWNK [HSA:56652] [KO:K17680]
(MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808]
(MTDPS9) SUCLG1 [HSA:8802] [KO:K01899]
(MTDPS10) AGK [HSA:55750] [KO:K09881]
(MTDPS11) MGME1 [HSA:92667] [KO:K19465]
(MTDPS12A/12B) SLC25A4 [HSA:291] [KO:K05863]
(MTDPS13) FBXL4 [HSA:26235] [KO:K10270]
(MTDPS14) OPA1 [HSA:4976] [KO:K17079]
(MTDPS15) TFAM [HSA:7019] [KO:K11830]
(MTDPS16/16B) POLG2 [HSA:11232] [KO:K02333]
(MTDPS17) MRM2 [HSA:29960] [KO:K02427]
(MTDPS18) SLC25A21 [HSA:89874] [KO:K15110]
(MTDPS19) SLC25A10 [HSA:1468] [KO:K13577]
(MTDPS20) LIG3 [HSA:3980] [KO:K10776]
H01020 Optic atrophy Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion ... Nervous system disease (OPA1) OPA1 [HSA:4976] [KO:K17079]
(OPA3) OPA3 [HSA:80207] [KO:K23166]
(OPA5) DNM1L [HSA:10059] [KO:K17065]
(OPA7) TMEM126A [HSA:84233] [KO:K18157]
(OPA9) ACO2 [HSA:50] [KO:K01681]
(OPA10) RTN4IP1 [HSA:84816] [KO:K23164]
(OPA11) YME1L1 [HSA:10730] [KO:K08955]
(OPA12) AFG3L2 [HSA:10939] [KO:K08956]
(OPA13) SSBP1 [HSA:6742] [KO:K03111]
(OPA14) MIEF1 [HSA:54471] [KO:K23507]
(OPA15) MCAT [HSA:27349] [KO:K00645]
(OPA16) MECR [HSA:51102] [KO:K07512]
H02213 Familial adult myoclonic epilepsy
Benign adult familial myoclonic epilepsy 		Familial adult myoclonic epilepsy (FAME), also known as benign adult familial myoclonic epilepsy (BAFME), is an autosomal dominant disorder characterized by adult-onset tremulous hand movement, infrequent ... Nervous system disease (FAME1) SAMD12 [HSA:401474]
(FAME2) STARD7 [HSA:56910] [KO:K24141]
(FAME3) MARCH6 [HSA:10299] [KO:K10661]
(FAME4) YEATS2 [HSA:55689] [KO:K24539]
(FAME5) CNTN2 [HSA:6900] [KO:K06760]
(FAME6) TNRC6A [HSA:27327] [KO:K18412]
(FAME7) RAPGEF2 [HSA:9693] [KO:K08018]
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