Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
BERNARD SOULIER SYNDROME		GP1BA	Causal	—	ClinVar
		GP1BB	Causal	—	ClinVar
		GP9	Causal	—	ClinVar
BERNARD-SOULIER GIANT PLATELET SYNDROME	C2873804	RASGRP2	Unknown	—	Disgenet
BERNARD-SOULIER SYNDROME	231200 274 C0005129 MESH:D001606 MONDO:0009276	GP1BA	Unknown	22886561	CTD ClinGen Disgenet GenCC HPO Orphanet
		GP1BB	Unknown	22886561	CTD ClinGen Disgenet GenCC HPO Orphanet
		GP9	Unknown	10583255 12100158 15609295 16916536 21113250 21173099 21699652 22886561 23143686 23402648 23995613 28650483 8089142 8481514 9432024 9886312	CTD ClinGen Disgenet GWAS catalog HPO Orphanet
		VWF	Unknown	—	Disgenet
BERNARD-SOULIER SYNDROME, TYPE A1	C3278148	GP1BA	Causal	—	Disgenet
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT	153670 C3277076 MONDO:0007930 OMIM:153670	GP1BA	Causal	11222377 19067792 21933849 27291889 27479822	CTD ClinVar Disgenet GWAS catalog HPO
BERNARD-SOULIER SYNDROME, TYPE B	C1856447	GP1BB	Causal	—	Disgenet
BERNARD-SOULIER SYNDROME, TYPE C	C1856448	GP9	Unknown	—	Disgenet

Bernard-soulier syndrome