Simpson-golabi-behmel 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
SIMPSON GOLABI BEHMEL SYNDROME TYPE 2	C1846175	OFD1	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
SIMPSON-GOLABI-BEHMEL SYNDROME	C4317043 373 MESH:C537340 MONDO:0010731	OFD1	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		GPC3	Unknown	10402475 10814714 10964473 11846487 20301398 29637653	CTD, ClinGen, Disgenet, Orphanet	Proteoglycans in cancer A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis +9 more
		GPC4	Unknown	20301398 21082656	CTD, Orphanet	Wnt signaling pathway A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis +7 more
		RETSAT	Unknown	19139408	CTD	Retinol metabolism
SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 1	MONDO:0020602	GPC3	Causal	—	ClinVar, GenCC	Proteoglycans in cancer A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis +9 more
SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 1	MONDO:0020602	GPC4	Unknown	—	ClinVar	Wnt signaling pathway A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis +7 more
SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2	MONDO:0010265	OFD1	Causal	16783569	ClinVar, GWAS catalog	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	312870 C0796154	GPC3	Unknown	10814714 16158429 17850639 18203194 8589713 9950367	Disgenet, HPO, ClinGen	Proteoglycans in cancer A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis +9 more
		GPC4	Unknown	—	Disgenet, HPO	Wnt signaling pathway A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis +7 more
		MED12	Unknown	—	Disgenet	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
		RETSAT	Unknown	—	Disgenet	Retinol metabolism
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2	300209 MESH:C564567	OFD1	Unknown	16783569	CTD, HPO	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more