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Entry Name Description Category Pathway Gene
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]
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]
(NEDCHF) HDAC4 [HSA:9759] [KO:K11406]
(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]
(NEDHS) OTUD7A [HSA:161725] [KO:K11860]
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