Rett syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ATYPICAL RETT SYNDROME	3095 MONDO:0017746	CDKL5	Causal	22196487 22787626	GWAS catalog, Orphanet	—
ATYPICAL RETT SYNDROME	3095 MONDO:0017746	MECP2	Causal	20301670	CTD, Orphanet	Transcriptional Regulation by MECP2 Loss of MECP2 binding ability to 5hmC-DNA Loss of MECP2 binding ability to 5mC-DNA +2 more
RETT SYNDROME	C0035372 MESH:D015518 312750 778 MONDO:0010726ORPHA778	CDKL5	Causal	19241098	CTD, Disgenet	—
		DOK7	Causal	—	Disgenet	—
		FOXG1	Causal	—	Disgenet	FoxO signaling pathway FOXO-mediated transcription of cell cycle genes
		MECP2	Causal	14593183 16670375 17433737 19000991 19190538 19559301 19921286 20098342 21316312 21966470 22343140 22532851 23892605 26214522 28498846 28592917 33010341 20301670	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO, Orphanet	Transcriptional Regulation by MECP2 Loss of MECP2 binding ability to 5hmC-DNA Loss of MECP2 binding ability to 5mC-DNA +2 more
		RHOBTB2	Causal	—	Disgenet	Ubiquitin mediated proteolysis Rho GTPase cycle
RETT SYNDROME, ZAPPELLA VARIANT	C2677682	MECP2	Causal	10508514 10577905 10737989 10767337 10814718 10814719 10854091 10944854 10991688 10991689 11022934 11106359 11214906 11245712 11269512 11309679 11313756 11313764 11331619 11376998 11462237 11469283 11524737 11738860 11738864 11738879 11738883 11738884	Disgenet, ClinGen	Transcriptional Regulation by MECP2 Loss of MECP2 binding ability to 5hmC-DNA Loss of MECP2 binding ability to 5mC-DNA +2 more