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 122470 MONDO:0007387	HDAC8	Causal	—	Disgenet	Cell cycle Neutrophil extracellular trap formation Alcoholism +7 more
		KMT2A	Causal	—	Disgenet	Lysine degradation Metabolic pathways Cushing syndrome +4 more
		NIPBL	Causal	15146185 11391654 15146186 16799922 15318302 35446447	ClinVar, Disgenet, HPO, ClinGen	Cell cycle Cohesin Loading onto Chromatin
		SMC1A	Causal	—	Disgenet	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
		SMC3	Causal	—	Disgenet	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
		TAF6	Causal	—	Disgenet	Basal transcription factors RNA Polymerase II Pre-transcription Events Regulation of TP53 Activity through Phosphorylation +5 more
		BRD4	Unknown	—	Disgenet	—
		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	C1853099 MONDO:0012555	SMC3	Causal	25125236 25655089 20358602 17273969	ClinVar, Disgenet, GWAS catalog	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	C3553517 MONDO:0013864	RAD21	Causal	22633399 32193685 30716475 30125677 27882533 24378232	ClinVar, Disgenet, GWAS catalog	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 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 5	300882 C3550903 MONDO:0010471	HDAC8	Causal	29991052 29519750 29279609 26671848 25805374 24403048 22885700 22889856 25102095 25800122	CTD, ClinVar, Disgenet, HPO, ClinGen	Cell cycle Neutrophil extracellular trap formation Alcoholism +7 more
CORNELIA DE LANGE SYNDROME 6	620568 C5882712 MONDO:0957921	BRD4	Causal	29379197 30302754	ClinVar, Disgenet, GWAS catalog, HPO	—
CORNELIA DE LANGE SYNDROME 6	620568 C5882712 MONDO:0957921	AFF4	Unknown	—	Disgenet	Viral life cycle - HIV-1 Formation of RNA Pol II elongation complex RNA Polymerase II Pre-transcription Events +1 more

Cornelia de lange syndrome

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