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Entry Name Description Category Pathway Gene
H02327 KBG syndrome KBG syndrome is characterized by intellectual disability, skeletal malformations, and macrodontia. It has been reported that mutations in ANKRD11 cause this disease. Congenital malformation ANKRD11 [HSA:29123] [KO:K21436]
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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