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Entry | Name | Description | Category | Pathway | Gene |
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H01489 |
Inherited glycosylphosphatidylinositol deficiencies Glycosylphosphatidylinositol biosynthesis deficiency |
Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) is a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations ... | Inherited metabolic disorder |
(GPIBD1) PIGM [HSA:93183] [KO:K05284] (GPIBD2) PIGV [HSA:55650] [KO:K07542] (GPIBD3) PIGN [HSA:23556] [KO:K05285] (GPIBD4) PIGA [HSA:5277] [KO:K03857] (GPIBD5) PIGL [HSA:9487] [KO:K03434] (GPIBD6) PIGO [HSA:84720] [KO:K05288] (GPIBD7) PIGT [HSA:51604] [KO:K05292] (GPIBD8) PGAP2 [HSA:27315] [KO:K23552] (GPIBD9) PGAP1 [HSA:80055] [KO:K05294] (GPIBD10) PGAP3 [HSA:93210] [KO:K23553] (GPIBD11) PIGW [HSA:284098] [KO:K05283] (GPIBD12) PIGY [HSA:84992] [KO:K11001] (GPIBD13) PIGG [HSA:54872] [KO:K05310] (GPIBD14) PIGP [HSA:51227] [KO:K03861] (GPIBD15) GPAA1 [HSA:8733] [KO:K05289] (GPIBD16) PIGC [HSA:5279] [KO:K03859] (GPIBD17) PIGH [HSA:5283] [KO:K03858] (GPIBD18) PIGS [HSA:94005] [KO:K05291] (GPIBD19) PIGQ [HSA:9091] [KO:K03860] (GPIBD20) PIGB [HSA:9488] [KO:K05286] (GPIBD21) PIGU [HSA:128869] [KO:K05293] (GPIBD22) PIGK [HSA:10026] [KO:K05290] (GPIBD25) C18orf32 [HSA:497661] |
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H02397 | Neurodevelopmental disorder with movement abnormalities or hypotonia | Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or ... | Congenital malformation |
(NEDMAGA) ZSWIM6 [HSA:57688] [KO:K25704] (NEDBASH) NTNG2 [HSA:84628] [KO:K16359] (NEDIMAE) SYT1 [HSA:6857] [KO:K15290] (NEDHAHM) VAMP2 [HSA:6844] [KO:K13504] (NEDHRIT) RALGAPA1 [HSA:253959] [KO:K25768] (NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562] (NEDHYBA) CLCN3 [HSA:1182] [KO:K05012] (NEDDISH) MADD [HSA:8567] [KO:K26162] (NEDEMA) FRMD5 [HSA:84978] [KO:K23969] (NEDHFS) PGM2L1 [HSA:283209] [KO:K11809] (NEDHSS) EIF4A2 [HSA:1974] [KO:K03257] (NEDSTO) TNR [HSA:7143] [KO:K06252] (NEDSIS) CACNA1I [HSA:8911] [KO:K04856] (NEDIHSS) ESAM [HSA:90952] [KO:K06787] (NEDNMS) NRCAM [HSA:4897] [KO:K06756] (NEDRSO) SNAPC4 [HSA:6621] [KO:K09453] (NEDMSF) PUM1 [HSA:9698] [KO:K17943] (NEDHBA) SLC4A10 [HSA:57282] [KO:K13861] (NEDHLSS) CACNA1C [HSA:775] [KO:K04850] (NEDHCAS) PIGK [HSA:10026] [KO:K05290] (NEDDS) SHQ1 [HSA:55164] [KO:K14764] (NEDHYD) ADCY5 [HSA:111] [KO:K08045] (NEDNEH) CACNA1B [HSA:774] [KO:K04849] (NEDHELS) DEAF1 [HSA:10522] [KO:K23041] (NEDHCS) SNIP1 [HSA:79753] [KO:K13108] (NEDPM) ACBD6 [HSA:84320] [KO:K27751] (NEDPBA) PTRHD1 [HSA:391356] [KO:K05969] |
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