Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT CUTIS LAXA	90348 MONDO:0019571	ALDH18A1	Unknown	26320891	GWAS catalog Orphanet
		ELN	Unknown	16085695 18348261	Disgenet Orphanet
		FBLN5	Unknown	12618961 20301756	CTD Orphanet
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1	90349 MONDO:0019572	EFEMP2	Unknown	16685658 19664000	GWAS catalog Orphanet
		FBLN5	Unknown	22829427	CTD Orphanet
		LTBP1	Unknown	33991472	Orphanet
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE	357074 MONDO:0009054	ATP6V0A2	Unknown	18157129 19321599 20301755	GenCC Orphanet
		ATP6V1A	Unknown	28065471	GWAS catalog Orphanet
		ATP6V1E1	Unknown	28065471	GWAS catalog Orphanet
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A	MONDO:0018163	ATP6V0A2	Unknown	18157129 19321599 24815019 26611489 28122681 30474613 38396846	ClinGen GWAS catalog
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B	357064 MONDO:0013051	PYCR1	Causal	19576563 19648921 18304158 18348262 16045708 11424136	ClinGen ClinVar GWAS catalog Orphanet
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2C	MONDO:0027462	ATP6V1E1	Causal	27023906 28065471	ClinGen ClinVar GWAS catalog
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2D	MONDO:0027451	ATP6V1A	Causal	—	ClinGen ClinVar GenCC
CUTIS LAXA	C0010495 MONDO:0016175 MESH:D003483	ABCC6	Causal	—	Disgenet
		ATP6V0A2	Causal	—	Disgenet
		ATP6V1E1	Causal	—	Disgenet
		EFEMP1	Causal	—	Disgenet GenCC
		EFEMP2	Causal	—	Disgenet
		LOX	Causal	—	Disgenet
		LTBP4	Causal	—	Disgenet
		PYCR1	Causal	19648921	CTD Disgenet
		ALDH18A1	Unknown	—	Disgenet
		ATP6V1A	Unknown	—	Disgenet
		ATP7A	Unknown	—	Disgenet
		COL5A1	Unknown	—	Disgenet
		ELN	Unknown	12189163	CTD Disgenet
		FAM120AOS	Unknown	—	Disgenet
		FBLN5	Unknown	—	Disgenet
		LTBP1	Unknown	—	Disgenet
		SLC39A13	Unknown	—	Disgenet
		SRFBP1	Unknown	—	Disgenet
CUTIS LAXA WITH OSTEODYSTROPHY		ATP6V0A2	Causal	—	ClinVar
CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES	221145 MONDO:0013170	LTBP4	Causal	19836010 22829427	ClinVar GenCC Orphanet
CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES	C2750804 MESH:C567716	LTBP4	Unknown	—	CTD Disgenet
CUTIS LAXA, AUTOSOMAL DOMINANT	C0268350 MESH:C562627	FBLN5	Causal	—	CTD Disgenet
		ALDH18A1	Unknown	—	CTD Disgenet
		ELN	Unknown	—	CTD Disgenet
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
CUTIS LAXA, AUTOSOMAL DOMINANT 2	614434 C3280794 MONDO:0013751	FBLN5	Causal	12618961 9873040 9580666	ClinVar Disgenet GWAS catalog HPO
CUTIS LAXA, AUTOSOMAL DOMINANT 3	616603 C4225268 MONDO:0014706	ALDH18A1	Causal	26320891 28228640 26829900	ClinVar Disgenet GWAS catalog HPO
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1A	MONDO:0009052	FBLN5	Causal	12189163 22829427	ClinVar GWAS catalog
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B	MONDO:0013754	EFEMP2	Causal	30140196 22440127 29362193 23212998 24276535 28673110 19664000 17937443 16685658	ClinGen ClinVar Disgenet
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D	MONDO:0958335	EFEMP1	Causal	—	ClinVar GenCC
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 2E	MONDO:0030337	LTBP1	Causal	33991472	ClinVar GWAS catalog
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	C0268351	EFEMP2	Unknown	—	Disgenet
		FBLN5	Unknown	—	Disgenet
		LTBP1	Unknown	—	Disgenet
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA	219100 C5848058 OMIM:219100	FBLN5	Unknown	—	CTD Disgenet HPO
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	614437 C3280798 OMIM:614437	EFEMP2	Unknown	—	CTD Disgenet HPO
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	614437 C3280798 OMIM:614437	GBE1	Unknown	—	Disgenet

Cutis laxa