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	—
		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
		GABBR2	Unknown	28856709	GWAS catalog, Orphanet	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse +9 more
		NTNG1	Unknown	17903671	GWAS catalog, Orphanet	Axon guidance Cell adhesion molecules Post-translational modification: synthesis of GPI-anchored proteins
		PDLIM7	Unknown	—	GenCC	Cytoskeleton in muscle cells RET signaling
		SMC1A	Unknown	32222533	GWAS catalog, Orphanet	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
		STXBP1	Unknown	25714420 25914188	GWAS catalog	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 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
		EGR2	Unknown	19000991	CTD, Disgenet	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection +3 more
		GABBR2	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse +9 more
		MAP2	Unknown	—	Disgenet	—
		PTPN1	Unknown	26214522	CTD, Disgenet	Adherens junction Insulin signaling pathway Insulin resistance +7 more
RETT SYNDROME, ATYPICAL	C2748910	CDKL5	Unknown	—	Disgenet	—
		GABBR2	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse +9 more
		GPHN	Unknown	—	Disgenet	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors +2 more
		MECP2	Unknown	—	Disgenet	Transcriptional Regulation by MECP2 Loss of MECP2 binding ability to 5hmC-DNA Loss of MECP2 binding ability to 5mC-DNA +2 more
		NTNG1	Unknown	—	Disgenet	Axon guidance Cell adhesion molecules Post-translational modification: synthesis of GPI-anchored proteins
		PALS1	Unknown	—	Disgenet	Hippo signaling pathway Tight junction Human papillomavirus infection
		PDLIM7	Unknown	—	Disgenet	Cytoskeleton in muscle cells RET signaling
		RS1	Unknown	—	Disgenet	—
		SMC1A	Unknown	—	Disgenet	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
		STXBP1	Unknown	—	Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
RETT SYNDROME, CONGENITAL VARIANT	613454 MONDO:0013270 OMIM:613454	FOXG1	Unknown	—	CTD, ClinVar, GenCC, HPO	FoxO signaling pathway FOXO-mediated transcription of cell cycle genes
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

Rett syndrome

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