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Entry Name Description Category Pathway Gene
H00237 Diamond-Blackfan anemia ... and clinically heterogeneous congenital erythroid aplasia that develops within the first year of life. Faulty ribosome biogenesis is hypothesized to be the underlying defect, leading to erythroid failure ... Ribosomopathy (DBA1) RPS19 [HSA:6223] [KO:K02966]
(DBA3) RPS24 [HSA:6229] [KO:K02974]
(DBA4) RPS17 [HSA:6218] [KO:K02962]
(DBA5) RPL35A [HSA:6165] [KO:K02917]
(DBA6) RPL5 [HSA:6125] [KO:K02932]
(DBA7) RPL11 [HSA:6135] [KO:K02868]
(DBA8) RPS7 [HSA:6201] [KO:K02993]
(DBA9) RPS10 [HSA:6204] [KO:K02947]
(DBA10) RPS26 [HSA:6231] [KO:K02976]
(DBA11) RPL26 [HSA:6154] [KO:K02898]
(DBA12) RPL15 [HSA:6138] [KO:K02877]
(DBA13) RPS29 [HSA:6235] [KO:K02980]
(DBA14) TSR2 [HSA:90121] [KO:K14800]
(DBA15) RPS28 [HSA:6234] [KO:K02979]
(DBA16) RPL27 [HSA:6155] [KO:K02901]
(DBA17) RPS27 [HSA:6232] [KO:K02978]
(DBA18) RPL18 [HSA:6141] [KO:K02883]
(DBA19) RPL35 [HSA:11224] [KO:K02918]
(DBA20) RPS15A [HSA:6210] [KO:K02957]
(DBA21) HEATR3 [HSA:55027] [KO:K24812]
H00473 Mitochondrial complex I deficiency ... most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is a giant multiheteromeric structure. Complex ... Inherited metabolic disorder, Mitochondrial disease (MC1DN1) NDUFS4 [HSA:4724] [KO:K03937]
(MC1DN2) NDUFS8 [HSA:4728] [KO:K03941]
(MC1DN3) NDUFS7 [HSA:374291] [KO:K03940]
(MC1DN4) NDUFV1 [HSA:4723] [KO:K03942]
(MC1DN5) NDUFS1 [HSA:4719] [KO:K03934]
(MC1DN6) NDUFS2 [HSA:4720] [KO:K03935]
(MC1DN7) NDUFV2 [HSA:4729] [KO:K03943]
(MC1DN8) NDUFS3 [HSA:4722] [KO:K03936]
(MC1DN9) NDUFS6 [HSA:4726] [KO:K03939]
(MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160]
(MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159]
(MC1DN12) NDUFA1 [HSA:4694] [KO:K03945]
(MC1DN13) NDUFA2 [HSA:4695] [KO:K03946]
(MC1DN14) NDUFA11 [HSA:126328] [KO:K03956]
(MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161]
(MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162]
(MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163]
(MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008]
(MC1DN19) FOXRED1 [HSA:55572] [KO:K18166]
(MC1DN20) ACAD9 [HSA:28976] [KO:K15980]
(MC1DN21) NUBPL [HSA:80224] [KO:K03593]
(MC1DN22) NDUFA10 [HSA:4705] [KO:K03954]
(MC1DN23) NDUFA12 [HSA:55967] [KO:K11352]
(MC1DN24) NDUFB9 [HSA:4715] [KO:K03965]
(MC1DN25) NDUFB3 [HSA:4709] [KO:K03959]
(MC1DN26) NDUFA9 [HSA:4704] [KO:K03953]
(MC1DN27) MTFMT [HSA:123263] [KO:K00604]
(MC1DN28) NDUFA13 [HSA:51079] [KO:K11353]
(MC1DN29) TMEM126B [HSA:55863] [KO:K18165]
(MC1DN30) NDUFB11 [HSA:54539] [KO:K11351]
(MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505]
(MC1DN32) NDUFB8 [HSA:4714] [KO:K03964]
(MC1DN33) NDUFA6 [HSA:4700] [KO:K03950]
(MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726]
(MC1DN35) NDUFB10 [HSA:4716] [KO:K03966]
(MC1DN36) NDUFC2 [HSA:4718] [KO:K03968]
(MC1DN37) NDUFA8 [HSA:4702] [KO:K03952]
(MC1DN39) NDUFB7 [HSA:4713] [KO:K03963]
ND1 [HSA:4535] [KO:K03878]
ND2 [HSA:4536] [KO:K03879]
ND3 [HSA:4537] [KO:K03880]
ND4 [HSA:4538] [KO:K03881]
ND4L [HSA:4539] [KO:K03882]
ND5 [HSA:4540] [KO:K03883]
ND6 [HSA:4541] [KO:K03884]
H01835 Neuronal migration disorder ... with severe epilepsy. They can be defined as cerebral malformations characterised by malpositioning and faulty differentiation of cortical grey matter. Neuronal positioning is an integral part of the coordinated ... Congenital malformation
H02653 Faundes-Banka syndrome Faundes-Banka syndrome (FABAS) is rare neurodevelopmental disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. Mutations in EIF5A cause this ... Congenital malformation EIF5A [HSA:1984] [KO:K03263]
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