Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL RECESSIVE STICKLER SYNDROME	250984 MONDO:0016647	COL9A3	Causal	24273071	GWAS catalog Orphanet
		COL11A1	Unknown	23922384	GWAS catalog
		COL9A1	Unknown	—	GenCC Orphanet
		COL9A2	Unknown	21671392	GWAS catalog Orphanet
		LOXL3	Unknown	25663169 30362103	Orphanet
STICKLER SYNDROME	C0265253 MONDO:0019354 828	ALMS1	Causal	—	Disgenet
		COL11A1	Causal	—	Disgenet
		COL2A1	Causal	—	Disgenet
		COL9A1	Causal	15802199 16718610 16909383 21421862	Disgenet
		COL9A2	Causal	15710493 15802199 17112713 17721977 20686772 21606205 21671392 23159952 23530037 25852475 27666725	Disgenet
		COL9A3	Causal	15802199 18448257 20686772 24273071 30450842 31090205 33570243 35241111	Disgenet
		VCAN	Causal	—	Disgenet
		BMP4	Unknown	25663169 30362103 30568244	GWAS catalog Orphanet
		CDH23	Unknown	—	Disgenet
		COL4A3	Unknown	—	Disgenet
		LOXL3	Unknown	25663169	Disgenet
		LRP2	Unknown	23992033	Disgenet
STICKLER SYNDROME TYPE 1	90653 MONDO:0007160	COL2A1	Causal	12544472 12968670 16752401 20179744 21671392 25060605 28095098 8723097 9800905	ClinGen ClinVar GWAS catalog Orphanet
STICKLER SYNDROME TYPE 2	90654 MONDO:0011493	COL11A1	Causal	10573014 8872475 27081569 25091507 22499343 10486316 25073711 9529347 17236192	ClinVar GWAS catalog Orphanet
STICKLER SYNDROME TYPE 4	C5439212	COL9A1	Unknown	—	Disgenet
		COL9A2	Unknown	—	Disgenet
		COL9A3	Unknown	—	Disgenet
		LOXL3	Unknown	—	Disgenet
STICKLER SYNDROME, TYPE 1	C2020284 MESH:C537492	COL11A1	Unknown	—	Disgenet
		COL11A2	Unknown	—	Disgenet
		COL2A1	Unknown	—	CTD Disgenet
		COL9A1	Unknown	—	Disgenet
STICKLER SYNDROME, TYPE 2	C1858084 MESH:C537493	COL11A1	Unknown	—	CTD Disgenet
STICKLER SYNDROME, TYPE 2	C1858084 MESH:C537493	COL1A1	Unknown	—	Disgenet
STICKLER SYNDROME, TYPE 3	C1861481	COL11A2	Unknown	—	Disgenet
STICKLER SYNDROME, TYPE 4	MONDO:0013590	COL9A1	Causal	16909383 21421862 31090205	ClinGen ClinVar GWAS catalog
STICKLER SYNDROME, TYPE 5	MONDO:0013666	COL9A2	Causal	21671392 31090205	ClinVar GWAS catalog
STICKLER SYNDROME, TYPE 6	MONDO:0031047	COL9A3	Causal	—	ClinVar GenCC
STICKLER SYNDROME, TYPE I	108300	COL2A1	Unknown	—	HPO
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR	609508 C1836080 MESH:C563709 MONDO:0012287	COL2A1	Causal	15671297 17721977 16752401 15316962 8723097 26626311 26709265 12429250 10729292 8434604 1444917 26443184 1677770 7711727 8317498 8737653 9800905	CTD ClinVar Disgenet GWAS catalog HPO
STICKLER SYNDROME, TYPE II	604841	COL11A1	Unknown	—	HPO
STICKLER SYNDROME, TYPE IV	C3279941 614134 OMIM:614134	COL2A1	Unknown	—	Disgenet
STICKLER SYNDROME, TYPE IV	C3279941 614134 OMIM:614134	COL9A1	Unknown	—	CTD Disgenet HPO
STICKLER SYNDROME, TYPE V	614284 C3280342 OMIM:614284	COL9A2	Unknown	—	CTD Disgenet HPO
STICKLER SYNDROME, TYPE VI	620022 C5774207	COL9A3	Unknown	—	Disgenet HPO

Stickler syndrome