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Entry Name Description Category Pathway Gene
H02246 Ehlers-Danlos syndrome musculocontractural type ... caused by mutations in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1). Recently, mutations in DSE, encoding dermatan sulfate epimerase-1, have been identified in a child with EDSMC features. Congenital malformation (EDSMC1) CHST14 [HSA:113189] [KO:K08105]
(EDSMC2) DSE [HSA:29940] [KO:K01794]
H02461 Neurodevelopmental disorder with microcephaly Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... Congenital malformation (NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304]
(NEDMCR) GEMIN4 [HSA:50628] [KO:K13132]
(NDMSBA) PLAA [HSA:9373] [KO:K14018]
(NEDMIBA) DYNC1I2 [HSA:1781] [KO:K10415]
(NEDMABA) SMPD4 [HSA:55627] [KO:K12353]
(NEDAHM) SVBP [HSA:374969] [KO:K23357]
(NEDMCMS) TMX2 [HSA:51075] [KO:K25112]
(NEDMEHM) MTHFS [HSA:10588] [KO:K01934]
(NMIHBA) PRUNE1 [HSA:58497] [KO:K01514]
(NEDHYMS) ADARB1 [HSA:104] [KO:K13194]
(NEDSEBA) EXOC7 [HSA:23265] [KO:K07195]
(NEDMISB) EXOC8 [HSA:149371] [KO:K19986]
(NEDSOSB) SEC31A [HSA:22872] [KO:K14005]
(NEDMSC) VPS50 [HSA:55610] [KO:K23288]
(NEDMHS) CPSF3 [HSA:51692] [KO:K14403]
(NEDMIMS) CHKA [HSA:1119] [KO:K14156]
(NEDMISS) TRAPPC10 [HSA:7109] [KO:K20307]
(NEDMVIC) DOHH [HSA:83475] [KO:K06072]
(NEDSMBA) PPFIBP1 [HSA:8496] [KO:K27096]
(NEDMIM) TTI1 [HSA:9675] [KO:K20403]
(NEDGS) PCDHGC4 [HSA:56098] [KO:K16497]
H02463 Syndromic intellectual developmental disorder Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital ... Mental and behavioural disorder (IDDRP) SCAPER [HSA:49855] [KO:K24869]
(IDDCA) GNB5 [HSA:10681] [KO:K04539]
(IDDCDF) TMEM94 [HSA:9772] [KO:K25291]
(IDDFP) BRPF1 [HSA:7862] [KO:K11348]
(IDDFSDA) OTUD6B [HSA:51633] [KO:K18342]
(IDDGIP) PPM1D [HSA:8493] [KO:K10147]
(DILOS) BCL11A [HSA:53335] [KO:K22045]
(IDDBCS) PHF21A [HSA:51317] [KO:K24651]
(IDDFBA) FBXO11 [HSA:80204] [KO:K10297]
(IDDEBF) ALG14 [HSA:199857] [KO:K07441]
(IDDHDF) CCNK [HSA:8812] [KO:K23326]
(IDDHBA) CDK8 [HSA:1024] [KO:K02208]
(IDDMSSD) PAK1 [HSA:5058] [KO:K04409]
(IDDNPF) SLC45A1 [HSA:50651] [KO:K15378]
(IDDECA) RORA [HSA:6095] [KO:K08532]
(IDDSELD) SETD1B [HSA:23067] [KO:K11422]
(IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
(IDDSSAD) ACTL6B [HSA:51412] [KO:K11652]
(IDDFSTA) BCL11B [HSA:64919] [KO:K22046]
(FHEIG) KCNK4 [HSA:50801] [KO:K04915]
(HIDEA) P4HTM [HSA:54681] [KO:K06711]
(IDPOGSA) ABCA2 [HSA:20] [KO:K05642]
(IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
(IDDPADS) PDE2A [HSA:5138] [KO:K18283]
(IDDSAPN) NEMF [HSA:9147] [KO:K24971]
(CAGS) ANKRD17 [HSA:26057] [KO:K16726]
(MRFACD) MED13L [HSA:23389] [KO:K15164]
(IDDMDS) LGI3 [HSA:203190] [KO:K19999]
(IDDOF) MTSS2 [HSA:92154] [KO:K20128]
(IDDPN) NUDT2 [HSA:318] [KO:K01518]
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