Stuve-wiedemann 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
STUVE-WIEDEMANN SYNDROME	C0796176 MONDO:0011108 3206 MESH:C537502	IL6ST	Causal	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Signaling pathways regulating pluripotency of stem cells +12 more
		LIFR	Causal	14740318 15634701 16467531 18031722 19603067 20447141 24988918 29620724 7789261 24618404	HPO, Orphanet, CTD, Disgenet	Cytokine-cytokine receptor interaction Signaling pathways regulating pluripotency of stem cells JAK-STAT signaling pathway +2 more
		HSPG2	Unknown	—	Disgenet	Virion - Hepatitis viruses ECM-receptor interaction Cytoskeleton in muscle cells +17 more
STUVE-WIEDEMANN SYNDROME 1	MONDO:0800043 601559 C5676888	LIFR	Unknown	14740318 27194968	ClinVar, Disgenet, HPO	Cytokine-cytokine receptor interaction Signaling pathways regulating pluripotency of stem cells JAK-STAT signaling pathway +2 more
STUVE-WIEDEMANN SYNDROME 2	619751 C5676919 MONDO:0030756	IL6ST	Causal	—	ClinVar, Disgenet, HPO	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Signaling pathways regulating pluripotency of stem cells +12 more
		CEP290	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CIMIP2B	Unknown	—	Disgenet	—
		RUSC2	Unknown	—	Disgenet	—