Congenital contractural arachnodactyly | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONGENITAL CONTRACTURAL ARACHNODACTYLY	C0220668 MESH:C536211 115 MONDO:0007363	FBN1	Causal	—	CTD, Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		FBN2	Causal	20301560 8900230 20799338 10797416 9199560 11281275 9737771 9106527	CTD, ClinVar, Disgenet, GWAS catalog, Orphanet	Cytoskeleton in muscle cells Degradation of the extracellular matrix Elastic fibre formation +1 more
		ABL1	Unknown	—	CTD	ErbB signaling pathway Ras signaling pathway Cell cycle +17 more
		AEBP1	Unknown	—	CTD	—
		ASPH	Unknown	—	CTD	Calcium signaling pathway Cardiac muscle contraction Stimuli-sensing channels +1 more
		BGN	Unknown	—	CTD	Cytoskeleton in muscle cells A tetrasaccharide linker sequence is required for GAG synthesis Chondroitin sulfate biosynthesis +9 more
		CBS	Unknown	—	CTD	Glycine, serine and threonine metabolism Cysteine and methionine metabolism One carbon pool by folate +3 more
		COL3A1	Unknown	—	CTD	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
		EFEMP1	Unknown	—	CTD	Molecules associated with elastic fibres
		EFEMP2	Unknown	—	CTD	Molecules associated with elastic fibres
		EMILIN1	Unknown	—	CTD	Molecules associated with elastic fibres
		FKBP14	Unknown	—	CTD	XBP1(S) activates chaperone genes
		IPO8	Unknown	—	CTD	Nucleocytoplasmic transport Transcriptional regulation by small RNAs
		LOX	Unknown	—	CTD	Elastic fibre formation Crosslinking of collagen fibrils
		LTBP3	Unknown	—	CTD	Molecules associated with elastic fibres
		MFAP5	Unknown	—	CTD	Elastic fibre formation Molecules associated with elastic fibres
		NPR2	Unknown	—	CTD	Purine metabolism Metabolic pathways cGMP-PKG signaling pathway +4 more
		NPR3	Unknown	—	CTD	Hormone signaling
		PLOD1	Unknown	—	CTD	Lysine degradation Metabolic pathways Collagen biosynthesis and modifying enzymes
		PMEPA1	Unknown	—	CTD	Downregulation of TGF-beta receptor signaling
		SKI	Unknown	—	CTD	TGF-beta signaling pathway Signaling by BMP Downregulation of SMAD2/3:SMAD4 transcriptional activity
		SLC2A10	Unknown	—	CTD	Cellular hexose transport Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
		SMAD2	Unknown	—	CTD	Cell cycle Endocytosis Cellular senescence +30 more
		SMAD3	Unknown	—	CTD	FoxO signaling pathway Cell cycle Endocytosis +34 more
		TGFB2	Unknown	—	CTD	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
		TGFB3	Unknown	—	CTD	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +27 more
		TGFBR1	Unknown	—	CTD	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		TGFBR2	Unknown	—	CTD	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		THSD4	Unknown	—	CTD	TGF-beta signaling pathway Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
CONTRACTURAL ARACHNODACTYLY, CONGENITAL	121050	FBN2	Unknown	10797416 11281275 20799338 8900230 9106527 9199560 9737771	HPO, ClinGen	Cytoskeleton in muscle cells Degradation of the extracellular matrix Elastic fibre formation +1 more