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Entry Name Description Category Pathway Gene
H00057 Parkinson disease Parkinson disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental ... Neurodegenerative disease hsa05012 Parkinson disease (PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528]
(PARK2) PRKN [HSA:5071] [KO:K04556]
(PARK5) UCHL1 [HSA:7345] [KO:K05611]
(PARK6) PINK1 [HSA:65018] [KO:K05688]
(PARK7) PARK7 [HSA:11315] [KO:K05687]
(PARK8) LRRK2 [HSA:120892] [KO:K08844]
(PARK9) ATP13A2 [HSA:23400] [KO:K13526]
(PARK11) GIGYF2 [HSA:26058] [KO:K18730]
(PARK13) HTRA2 [HSA:27429] [KO:K08669]
(PARK14) PLA2G6 [HSA:8398] [KO:K16343]
(PARK15) FBXO7 [HSA:25793] [KO:K10293]
(PARK17) VPS35 [HSA:55737] [KO:K18468]
(PARK18) EIF4G1 [HSA:1981] [KO:K03260]
(PARK19) DNAJC6 [HSA:9829] [KO:K09526]
(PARK22) CHCHD2 [HSA:51142] [KO:K22758]
(PARK23) VPS13C [HSA:54832] [KO:K19525]
(PARK24) PSAP [HSA:5660] [KO:K12382]
(PARK25) PTPA [HSA:5524] [KO:K17605]
(IDLDP) NR4A2 [HSA:4929] [KO:K08558]
MAPT [HSA:4137] [KO:K04380]
H00072 Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA ... Inherited metabolic disorder (PDHAD) PDHA1 [HSA:5160] [KO:K00161]
(PDHBD) PDHB [HSA:5162] [KO:K00162]
(PDHDD) DLAT [HSA:1737] [KO:K00627]
(PDHPD) PDP1 [HSA:54704] [KO:K01102]
(PDHXD) PDHX [HSA:8050] [KO:K13997]
(DLDD) DLD [HSA:1738] [KO:K00382]
H00172 Maple syrup urine disease Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder caused by a defect in the oxidative decarboxylation of branched-chain amino acids (BCAA) leading to mental and physical retardation ... Inherited metabolic disorder (MSUD1A) BCKDHA [HSA:593] [KO:K00166]
(MSUD1B) BCKDHB [HSA:594] [KO:K00167]
(MSUD2) DBT [HSA:1629] [KO:K09699]
(DLDD) DLD [HSA:1738] [KO:K00382]
(MSUDMV) PPM1K [HSA:152926] [KO:K17505]
H01230 Adult-onset autosomal dominant leukodystrophy Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system. Although a phenotype ... Nervous system disease LMNB1 [HSA:4001] [KO:K07611]
H02000 Dihydrolipoamide dehydrogenase deficiency
E3 deficiency
Maple syrup urine disease type III 		Dihydrolipoamide dehydrogenase (DLD) deficiency, also known as maple syrup urine disease type III, is a rare autosomal recessive disorder. DLD functions as the E3 subunit of three mitochondrial enzyme ... Inherited metabolic disorder DLD [HSA:1738] [KO:K00382]
H02006 Alpha-ketoglutarate dehydrogenase complex deficiency ... functions in the TCA cycle. This enzymatic complex is made up of three subunits, encoded by OGDH, DLST, and DLD, respectively. The E3 subunit, encoded by DLD, is common to two other enzymatic complexes, namely ... Inherited metabolic disorder, Mitochondrial disease OGDH [HSA:4967] [KO:K00164]
DLD [HSA:1738] [KO:K00382]
H02459 Syndromic neurodevelopmental disorder Syndromic neurodevelopmental disorder (NED) is a group of disorders that have a number of clinical features in addition to intellectual disability and developmental delay. Many genes that cause these syndromes ... Congenital malformation (NEDALVS) WASF1 [HSA:8936] [KO:K05753]
(NEDCPMD) NFASC [HSA:23114] [KO:K06757]
(NEDIDHA) DOCK3 [HSA:1795] [KO:K05727]
(NEDISHM) ZNF142 [HSA:7701] [KO:K24851]
(NEDSSWI) DHPS [HSA:1725] [KO:K00809]
(NEDMIAL) DHX30 [HSA:22907] [KO:K13185]
(NEDIES) NCDN [HSA:23154]
(NEDMOSBA) TMEM222 [HSA:84065] [KO:K20726]
(NEDSGO) TBC1D2B [HSA:23102] [KO:K20166]
(NEDEGE) NBEA [HSA:26960] [KO:K24183]
(NEDSOA) THUMPD1 [HSA:55623] [KO:K06963]
(NEDLBAS) AGO1 [HSA:26523] [KO:K11593]
(NEDLDS) TIAM1 [HSA:7074] [KO:K05731]
(NEDLC) GABBR1 [HSA:2550] [KO:K04615]
(NEDGBA) ATP9A [HSA:10079] [KO:K26679]
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