Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
WAARDENBURG SYNDROME	C3266898 MONDO:0018094 MESH:D014849	MITF	Causal	—	Disgenet GenCC
		PAX3	Causal	15729346 18553554 18983540 20095975 25932447 27759048 28043919 28381738 28686331 28690861 30314436 7897628	CTD ClinGen Disgenet
		SOX10	Causal	—	Disgenet
		BDP1	Unknown	—	Disgenet
		EDN3	Unknown	8630502	Disgenet GenCC
		EDNRB	Unknown	—	Disgenet
		KITLG	Unknown	—	Disgenet
		MYO6	Unknown	—	Disgenet
		POLR2F	Unknown	—	Disgenet
		SNAI2	Unknown	12444107	ClinGen ClinVar Disgenet
		TMPRSS3	Unknown	—	Disgenet
WAARDENBURG SYNDROME TYPE 1	C1847800 894 MONDO:0008670	MITF	Causal	—	Disgenet
		PAX3	Causal	1887852 7726174 1303193 8490648 20478267 1308353 1347148 8447316 1347149 8664898 14556253 7825605 7833953 7897628 7902163 8019556 8162027 8533800 8799378 9067759 9232624 9452070 9654197 20301703	ClinVar Disgenet Orphanet
		SOX10	Causal	—	Disgenet
		EDN3	Unknown	—	Disgenet
		EDNRB	Unknown	—	Disgenet
		KITLG	Unknown	—	Disgenet
		POLR2F	Unknown	—	Disgenet
WAARDENBURG SYNDROME TYPE 2	895 C2700265 MESH:C536463 MONDO:0019517	MITF	Causal	23098757 23512835 23787126 27349893 27759048 28356565 7874167 7874168 8782819 9158138 9499424	CTD ClinGen Disgenet HPO Orphanet
		EDNRB	Unknown	28236341	Disgenet GWAS catalog Orphanet
		KITLG	Unknown	26522471	Disgenet GWAS catalog Orphanet
		SNAI2	Unknown	12444107	Disgenet Orphanet
		SOX10	Unknown	17999358 21898658	CTD Disgenet Orphanet
		TYR	Unknown	9158138	Disgenet GWAS catalog Orphanet
WAARDENBURG SYNDROME TYPE 2A	MESH:C536464 MONDO:0008671	MITF	Causal	9158138 8589691 7874167 9856573 8490648	CTD ClinVar
WAARDENBURG SYNDROME TYPE 2D	MONDO:0012144	SNAI2	Unknown	12444107 12955764 17905753	Disgenet
WAARDENBURG SYNDROME TYPE 2E	MONDO:0012698	SOX10	Causal	8911608 21965087 17999358 18348267 19208381 20478267 18627047 23643381 9462749 10077527 18348274	ClinVar GWAS catalog
WAARDENBURG SYNDROME TYPE 3	896 MONDO:0007862	PAX3	Causal	12949970 35607853 7726174 8447316 9302254	ClinVar Disgenet Orphanet
WAARDENBURG SYNDROME TYPE 4A	MONDO:0010192	EDNRB	Causal	8001158	ClinGen ClinVar GWAS catalog
WAARDENBURG SYNDROME TYPE 4B	MONDO:0013201	EDN3	Causal	8630502	ClinGen ClinVar GWAS catalog
WAARDENBURG SYNDROME TYPE 4C	MONDO:0013202	SOX10	Causal	—	ClinGen ClinVar GenCC
WAARDENBURG SYNDROME, IIA 2F	MONDO:0030983	KITLG	Causal	26522471 28504826	ClinVar GWAS catalog
WAARDENBURG SYNDROME, TYPE 1	193500	PAX3	Unknown	—	HPO
WAARDENBURG SYNDROME, TYPE 2A	193510	MITF	Unknown	—	HPO
WAARDENBURG SYNDROME, TYPE 2E	611584	SOX10	Unknown	—	HPO
WAARDENBURG SYNDROME, TYPE 2F	619947 C5677013	KITLG	Unknown	—	Disgenet HPO
WAARDENBURG SYNDROME, TYPE 2F	619947 C5677013	MTFMT	Unknown	—	Disgenet
WAARDENBURG SYNDROME, TYPE 3	148820	PAX3	Unknown	—	HPO
WAARDENBURG SYNDROME, TYPE 4	MESH:C536467	EDN3	Unknown	17516928 8630502 8630503	CTD
WAARDENBURG SYNDROME, TYPE 4A	C1848519 277580 OMIM:277580	EDN3	Unknown	—	Disgenet
		EDNRB	Unknown	—	CTD Disgenet HPO
		MITF	Unknown	—	Disgenet
		POLR2F	Unknown	—	Disgenet
		SOX10	Unknown	—	Disgenet
WAARDENBURG SYNDROME, TYPE 4B	613265 C2750457 MESH:C567680	EDN3	Unknown	—	CTD Disgenet HPO
WAARDENBURG SYNDROME, TYPE 4C	C2750452 613266 MESH:C567679	POLR2F	Unknown	—	Disgenet
WAARDENBURG SYNDROME, TYPE 4C	C2750452 613266 MESH:C567679	SOX10	Unknown	—	CTD Disgenet HPO
WAARDENBURG SYNDROME, TYPE IIA	C1860339	MITF	Unknown	—	Disgenet
		POLR2F	Unknown	—	Disgenet
		SOX10	Unknown	—	Disgenet

Waardenburg syndrome