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 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
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 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 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	—