Cornelia de lange 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
CORNELIA DE LANGE SYNDROME	199 C0270972 MONDO:0016033	BRD4	Unknown	29379197	Disgenet, GWAS catalog, Orphanet	—
		HDAC8	Unknown	19605684 22885700 22889856 25102094 29519750	ClinGen, Disgenet, GWAS catalog, Orphanet	Cell cycle Neutrophil extracellular trap formation Alcoholism +7 more
		NIPBL	Unknown	15146185 15146186 19763162 20301283 22628566 25255084 26544867	CTD, ClinGen, Disgenet, Orphanet	Cell cycle Cohesin Loading onto Chromatin
		RAD21	Unknown	17567667 22633399 24378232 25125236 25378554 27620904 27882533 30125677 30716475	ClinGen, Disgenet, GWAS catalog, Orphanet	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
		SMC1A	Unknown	20301283	CTD, Disgenet, Orphanet	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
		SMC3	Unknown	11983169 17273969 18996922 20301283 23106691 25125236 25574841 25655089 28408410 28781842	ClinGen, Disgenet, GWAS catalog, Orphanet	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
		TRMT61A	Unknown	—	Disgenet	tRNA modification in the nucleus and cytosol
CORNELIA DE LANGE SYNDROME 1	C4551851	BRD4	Unknown	—	Disgenet	—
CORNELIA DE LANGE SYNDROME 1	C4551851	RAD21	Unknown	—	Disgenet	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
CORNELIA DE LANGE SYNDROME 2	300590 MONDO:0010370	SMC1A	Unknown	16604071 20635401 17273969 22106055 28548707 28102598 26354354 24124034 19701948 23863341 31905481 32532882 32648047 34729759 35396801 36246631	Disgenet, HPO	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS	610759	SMC3	Unknown	17273969 20358602 25125236 25655089	HPO, ClinGen	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS	614701	RAD21	Unknown	—	HPO, ClinGen	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
CORNELIA DE LANGE SYNDROME 6	C5882712	AFF4	Unknown	—	Disgenet	Viral life cycle - HIV-1 Formation of RNA Pol II elongation complex RNA Polymerase II Pre-transcription Events +1 more