Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
NOONAN SYNDROME	648 C0028326 MESH:D009634 MONDO:0018997PS163950	BRAF	Causal	17603482 17703371 18456719 19206169 21784453 23875798 27521173	CTD ClinGen Disgenet GWAS catalog Orphanet
		CBL	Causal	25952305	Disgenet GWAS catalog Orphanet
		ERF	Causal	—	Disgenet
		HRAS	Causal	17703371	CTD Disgenet
		KRAS	Causal	16474405 16773572 17468812 17603482 17603483 17703371 17875937 19396835 22302539 23875798 24382853 25359213	CTD ClinGen Disgenet GWAS catalog Orphanet
		LZTR1	Causal	25795793 29469822 29959388 30368668 30859559 31182298	ClinGen Disgenet GWAS catalog Orphanet
		MAP2K1	Causal	17703371 17704260 23321623 23875798 25049390 27862862	CTD ClinGen ClinVar Disgenet GWAS catalog
		MAP2K2	Causal	17703371 23875798 24311457 25862627	CTD ClinGen Disgenet GWAS catalog
		NRAS	Causal	19966803 21263000 22855653 23875798 28594414	CTD ClinGen Disgenet GWAS catalog Orphanet
		PPP1CB	Causal	—	Disgenet
		PTPN11	Causal	11704759 12529711 15273746 17603482 17603483 17703371 16358218 16399795 19760651 19795160 20718194 23446178 23875798 24736444 25804457 26817465 28074573	CTD ClinGen ClinVar Disgenet Orphanet
		RAF1	Causal	17603482 17603483 20052757 21339642 21440552 22821648 23613113 23877478 24782337 25706034 26467173 28777121 29907801 30359267 35278234 36155125	CTD ClinGen Disgenet GWAS catalog Orphanet
		RIT1	Causal	23791108 23875798 25049390 25124994 25959749 27101134 27226556	ClinGen Disgenet Orphanet
		RRAS2	Causal	31130282 31130285 33686258 34648682	ClinGen Disgenet GWAS catalog Orphanet
		SHOC2	Causal	19684605	CTD ClinGen Disgenet
		SOS1	Causal	17143282 17143285 17603482 17603483 18651097 20133692 21041952 21387466 23875798 25337068 25712082	CTD ClinGen Disgenet Orphanet
		SOS2	Causal	10938118 23875798 25795793 26173643 30707178 32788663	ClinGen Disgenet Orphanet
		SPRED2	Causal	34626534	Disgenet Orphanet
		A2ML1	Unknown	24939586 25862627 27942422	ClinGen Disgenet
		DMPK	Unknown	—	Disgenet
		EPHA2	Unknown	22845314	CTD Disgenet
		LRRC56	Unknown	—	Disgenet
		MRAS	Unknown	23875798 28289718 31108500 31173466 34080768 35831509	ClinGen Disgenet GWAS catalog Orphanet
		RASA1	Unknown	—	ClinGen Disgenet
		RASA2	Unknown	25049390	ClinGen Disgenet GWAS catalog Orphanet
		RRAS	Unknown	24705357	ClinGen Disgenet GWAS catalog Orphanet
		SNAPC5	Unknown	—	Disgenet
		SPRED1	Unknown	—	Disgenet
NOONAN SYNDROME 1	163950 C4551602 MONDO:0008104	BRAF	Causal	—	ClinVar Disgenet HPO
		CBL	Causal	—	Disgenet
		GJB2	Causal	—	Disgenet
		HRAS	Causal	—	Disgenet
		KRAS	Causal	—	Disgenet
		LZTR1	Causal	—	Disgenet
		MAP2K1	Causal	—	ClinVar Disgenet HPO
		MAP2K2	Causal	—	Disgenet
		NRAS	Causal	—	Disgenet
		PTPN11	Causal	—	ClinVar Disgenet GenCC HPO
		RAF1	Causal	—	Disgenet
		RASA2	Causal	—	Disgenet
		RIT1	Causal	—	Disgenet
		SOS1	Causal	—	Disgenet
		SOS2	Causal	—	Disgenet
		A2ML1	Unknown	—	Disgenet
		LRRC56	Unknown	—	Disgenet
		NOD2	Unknown	—	Disgenet
		RPL6	Unknown	—	Disgenet
		SNAPC5	Unknown	—	Disgenet
NOONAN SYNDROME 10	616564 C4225280 MONDO:0014693 OMIM:616564	LZTR1	Causal	30368668 25795793 31825158 31533111 30859559 30664951 33407364 35656879 35840934 36304179	CTD ClinVar Disgenet HPO
NOONAN SYNDROME 11	618499 C5193130 MONDO:0032786	MRAS	Causal	31108500 28289718 31173466	ClinVar Disgenet GWAS catalog HPO

Noonan syndrome