Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B	357064 MONDO:0013051	PYCR1	Causal	19576563 19648921 18304158 18348262 16045708 11424136	ClinGen, ClinVar, GWAS catalog, Orphanet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2C	MONDO:0027462	ATP6V1E1	Causal	27023906 28065471	ClinGen, ClinVar, GWAS catalog	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2D	MONDO:0027451	ATP6V1A	Causal	—	ClinGen, ClinVar, GenCC	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
CUTIS LAXA	C0010495 MONDO:0016175 MESH:D003483	ABCC6	Causal	—	Disgenet	ABC transporters ABC-family proteins mediated transport Defective ABCC6 causes pseudoxanthoma elasticum (PXE)
		ATP6V0A2	Causal	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
		ATP6V1E1	Causal	—	Disgenet	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
		EFEMP1	Causal	—	Disgenet, GenCC	Molecules associated with elastic fibres
		EFEMP2	Causal	—	Disgenet	Molecules associated with elastic fibres
		LOX	Causal	—	Disgenet	Elastic fibre formation Crosslinking of collagen fibrils
		LTBP4	Causal	—	Disgenet	Molecules associated with elastic fibres
		PYCR1	Causal	19648921	CTD, Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
CUTIS LAXA WITH OSTEODYSTROPHY		ATP6V0A2	Causal	—	ClinVar	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES	221145 MONDO:0013170	LTBP4	Causal	19836010 22829427	ClinVar, GenCC, Orphanet	Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL DOMINANT	C0268350 MESH:C562627	FBLN5	Causal	—	CTD, Disgenet	Elastic fibre formation Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL DOMINANT 1	123700 C3276539 MONDO:0007411	ELN	Causal	10190538 9215670 10190324 8132745 9215671 11175284 19844261 8541862 11735026 23442826 21309044	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
CUTIS LAXA, AUTOSOMAL DOMINANT 2	614434 C3280794 MONDO:0013751	FBLN5	Causal	12618961 9873040 9580666	ClinVar, Disgenet, GWAS catalog, HPO	Elastic fibre formation Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL DOMINANT 3	616603 C4225268 MONDO:0014706	ALDH18A1	Causal	26320891 28228640 26829900	ClinVar, Disgenet, GWAS catalog, HPO	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1A	MONDO:0009052	FBLN5	Causal	12189163 22829427	ClinVar, GWAS catalog	Elastic fibre formation Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B	MONDO:0013754	EFEMP2	Causal	30140196 22440127 29362193 23212998 24276535 28673110 19664000 17937443 16685658	ClinGen, ClinVar, Disgenet	Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D	MONDO:0958335	EFEMP1	Causal	—	ClinVar, GenCC	Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 2E	MONDO:0030337	LTBP1	Causal	33991472	ClinVar, GWAS catalog	TGF-beta signaling pathway Molecules associated with elastic fibres Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
CUTIS LAXA, X-LINKED	C0268353	ATP7A	Causal	—	ClinVar, Disgenet	Platinum drug resistance Mineral absorption Ion influx/efflux at host-pathogen interface +1 more

Cutis laxa

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