Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
NOONAN SYNDROME	648 C0028326 MESH:D009634 MONDO:0018997PS163950	BRAF	Causal	17603482 17703371 18456719 19206169 21784453 23875798 27521173	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
		CBL	Causal	25952305	Disgenet, GWAS catalog, Orphanet	ErbB signaling pathway Ubiquitin mediated proteolysis Endocytosis +22 more
		ERF	Causal	—	Disgenet	Oncogene Induced Senescence
		HRAS	Causal	17703371	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		KRAS	Causal	16474405 16773572 17468812 17603482 17603483 17703371 17875937 19396835 22302539 23875798 24382853 25359213	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		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	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +99 more
		MAP2K2	Causal	17703371 23875798 24311457 25862627	CTD, ClinGen, Disgenet, GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +87 more
		NRAS	Causal	19966803 21263000 22855653 23875798 28594414	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
		PPP1CB	Causal	—	Disgenet	mRNA surveillance pathway cGMP-PKG signaling pathway cAMP signaling pathway +22 more
		PTPN11	Causal	11704759 12529711 15273746 17603482 17603483 17703371 16358218 16399795 19760651 19795160 20718194 23446178 23875798 24736444 25804457 26817465 28074573	CTD, ClinGen, ClinVar, Disgenet, Orphanet	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
		RAF1	Causal	17603482 17603483 20052757 21339642 21440552 22821648 23613113 23877478 24782337 25706034 26467173 28777121 29907801 30359267 35278234 36155125	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		RIT1	Causal	23791108 23875798 25049390 25124994 25959749 27101134 27226556	ClinGen, Disgenet, Orphanet	—
		RRAS2	Causal	31130282 31130285 33686258 34648682	ClinGen, Disgenet, GWAS catalog, Orphanet	MAPK signaling pathway Ras signaling pathway cAMP signaling pathway +8 more
		SHOC2	Causal	19684605	CTD, ClinGen, Disgenet	Ras signaling pathway
		SOS1	Causal	17143282 17143285 17603482 17603483 18651097 20133692 21041952 21387466 23875798 25337068 25712082	CTD, ClinGen, Disgenet, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +97 more
		SOS2	Causal	10938118 23875798 25795793 26173643 30707178 32788663	ClinGen, Disgenet, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +49 more
		SPRED2	Causal	34626534	Disgenet, Orphanet	Regulation of RAS by GAPs FGFRL1 modulation of FGFR1 signaling RAS signaling downstream of NF1 loss-of-function variants
		A2ML1	Unknown	24939586 25862627 27942422	ClinGen, Disgenet	—
		DMPK	Unknown	—	Disgenet	Ion homeostasis
		EPHA2	Unknown	22845314	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +5 more
		LRRC56	Unknown	—	Disgenet	—
		MRAS	Unknown	23875798 28289718 31108500 31173466 34080768 35831509	ClinGen, Disgenet, GWAS catalog, Orphanet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +8 more
		RASA1	Unknown	—	ClinGen, Disgenet	MAPK signaling pathway Ras signaling pathway Axon guidance +5 more
		RASA2	Unknown	25049390	ClinGen, Disgenet, GWAS catalog, Orphanet	MAPK signaling pathway Ras signaling pathway Viral carcinogenesis +1 more
		RRAS	Unknown	24705357	ClinGen, Disgenet, GWAS catalog, Orphanet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +12 more
		SNAPC5	Unknown	—	Disgenet	RNA polymerase II transcribes snRNA genes RNA Polymerase III Transcription Initiation From Type 3 Promoter
		SPRED1	Unknown	—	Disgenet	Regulation of RAS by GAPs FGFRL1 modulation of FGFR1 signaling RAS signaling downstream of NF1 loss-of-function variants
NOONAN SYNDROME 1	163950 C4551602 MONDO:0008104	BRAF	Causal	—	ClinVar, Disgenet, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
		CBL	Causal	—	Disgenet	ErbB signaling pathway Ubiquitin mediated proteolysis Endocytosis +22 more
		GJB2	Causal	—	Disgenet	Transport of connexons to the plasma membrane
		HRAS	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		KRAS	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		LZTR1	Causal	—	Disgenet	—
		MAP2K1	Causal	—	ClinVar, Disgenet, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +99 more
		MAP2K2	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +87 more
		NRAS	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
		PTPN11	Causal	—	ClinVar, Disgenet, GenCC, HPO	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
		RAF1	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		RASA2	Causal	25049390	Disgenet, ClinGen	MAPK signaling pathway Ras signaling pathway Viral carcinogenesis +1 more
		RIT1	Causal	—	Disgenet	—
		SOS1	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +97 more
		SOS2	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +49 more
		A2ML1	Unknown	—	Disgenet	—
		LRRC56	Unknown	—	Disgenet	—
		NOD2	Unknown	—	Disgenet	NOD-like receptor signaling pathway TNF signaling pathway Tuberculosis +7 more
		RPL6	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		SNAPC5	Unknown	—	Disgenet	RNA polymerase II transcribes snRNA genes RNA Polymerase III Transcription Initiation From Type 3 Promoter
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, ClinGen	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +8 more
NOONAN SYNDROME 12	618624 C5231432 MONDO:0032839	RRAS2	Causal	31130282 31130285 24705357	ClinVar, Disgenet, HPO, ClinGen	MAPK signaling pathway Ras signaling pathway cAMP signaling pathway +8 more
NOONAN SYNDROME 13	619087 C5436773 MONDO:0033669	MAPK1	Causal	27004400 27513193 28494468 28512266 32721402	ClinVar, Disgenet, HPO, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +161 more
NOONAN SYNDROME 14	619745 C5676916 MONDO:0030679	SPRED2	Causal	34626534 36608738	ClinVar, Disgenet, HPO	Regulation of RAS by GAPs FGFRL1 modulation of FGFR1 signaling RAS signaling downstream of NF1 loss-of-function variants
NOONAN SYNDROME 2	605275 C1854469 MESH:C548081 MONDO:0011531	LZTR1	Causal	25795793 29469822	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
NOONAN SYNDROME 3	C1860991 609942 MESH:C537847 MONDO:0012371	CLTC	Causal	—	Disgenet	Lysosome Endocytosis Synaptic vesicle cycle +18 more
		HRAS	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		KRAS	Causal	19396835 16773572 16474405	CTD, ClinVar, Disgenet, GenCC, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		PTPN11	Causal	—	Disgenet	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
		RAF1	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		SOS1	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +97 more
		LRRC56	Unknown	—	Disgenet	—
		SHOC2	Unknown	—	Disgenet	Ras signaling pathway
NOONAN SYNDROME 4	610733 C1853120 MESH:C548082 MONDO:0012547	SOS1	Causal	18925667 17143285 19438935	CTD, ClinVar, Disgenet, GWAS catalog, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +97 more
NOONAN SYNDROME 5	611553 C1969057 MESH:C548083 MONDO:0012690	RAF1	Causal	30681346 17603482 17603483 30762279 29271604 24782337 22786616 25974318	CTD, ClinVar, Disgenet, GWAS catalog, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
NOONAN SYNDROME 5	611553 C1969057 MESH:C548083 MONDO:0012690	MKRN2	Unknown	—	Disgenet	—
NOONAN SYNDROME 6	613224 C2750732 MESH:C548084 MONDO:0013186	NRAS	Causal	19966803	CTD, ClinVar, Disgenet, HPO, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
NOONAN SYNDROME 7	613706 C3150970 MONDO:0013379 OMIM:613706	BRAF	Causal	19206169	CTD, ClinVar, Disgenet, GWAS catalog, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
NOONAN SYNDROME 8	C3809233 615355 MONDO:0014143 OMIM:615355	PIK3CA	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
NOONAN SYNDROME 8	C3809233 615355 MONDO:0014143 OMIM:615355	RIT1	Causal	30681346 23791108 26446362 27101134 25959749	CTD, ClinVar, Disgenet, HPO	—
NOONAN SYNDROME 9	616559 C4225282 MONDO:0014691 OMIM:616559	SOS2	Causal	32788663 26173643 25795793	CTD, ClinVar, Disgenet, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +49 more
NOONAN SYNDROME AND NOONAN-RELATED SYNDROME	C5681679 MONDO:0020297	BRAF	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
		CBL	Causal	—	Disgenet	ErbB signaling pathway Ubiquitin mediated proteolysis Endocytosis +22 more
		HRAS	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		KRAS	Causal	16474405 16773572 19396835	Disgenet, ClinGen	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		LZTR1	Causal	25795793 31825158 30859559 30664951 31533111 29959388 30368668	Disgenet, ClinGen	—
		MAP2K1	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +99 more
		MAP2K2	Causal	—	Disgenet, ClinGen	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +87 more
		NRAS	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
		PTPN11	Causal	—	Disgenet	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
		RAF1	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		RIT1	Causal	23791108 25959749 26446362 27101134 30681346	Disgenet, ClinGen	—
		SHOC2	Causal	—	Disgenet	Ras signaling pathway
		SOS1	Causal	17143285 18925667 19438935	Disgenet, ClinGen	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +97 more
		SPRED1	Causal	—	Disgenet	Regulation of RAS by GAPs FGFRL1 modulation of FGFR1 signaling RAS signaling downstream of NF1 loss-of-function variants
		LRRC56	Unknown	—	Disgenet	—
		RRAS	Unknown	24705357	Disgenet, ClinGen	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +12 more
		SNAPC5	Unknown	—	Disgenet	RNA polymerase II transcribes snRNA genes RNA Polymerase III Transcription Initiation From Type 3 Promoter
		SOS2	Unknown	25795793 26173643 32788663	Disgenet, ClinGen	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +49 more
NOONAN SYNDROME WITH MULTIPLE LENTIGINES	500 MONDO:0007893	BRAF	Causal	19206169 19416762 20301557 22465605 23875798 24775816	ClinGen, GWAS catalog, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
		PTPN11	Causal	12058348 15121796 16638574 19864201 20301557 20308328 20493809 21339643 21747628 23875798 25917897 26952712	ClinGen, Disgenet, Orphanet	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
		RAF1	Causal	17603483 20052757 20301557 21440552 22389993 23875798 24775816	ClinGen, GWAS catalog, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
		MAP2K1	Unknown	21396583 23321623	ClinGen, GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +99 more
		NRAS	Unknown	19775298 22887781 23875798 26467218	ClinGen, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA	363972 C4016301	CBL	Causal	20543203 20619386	Disgenet, Orphanet	ErbB signaling pathway Ubiquitin mediated proteolysis Endocytosis +22 more
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR	2701 C1843181 MONDO:0011899	PPP1CB	Causal	16630891 24211266 25356899 27264673 27681385 27868344 28211982	ClinGen, Disgenet, GWAS catalog, Orphanet	mRNA surveillance pathway cGMP-PKG signaling pathway cAMP signaling pathway +22 more
		SHOC2	Causal	19684605 20882035 21548061 22606262 23875798 27466182	ClinGen, Disgenet, GWAS catalog, Orphanet	Ras signaling pathway
		HRAS	Unknown	—	ClinGen, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1	607721 C4478716 MONDO:0054637 OMIM:607721	SHOC2	Causal	19684605	CTD, ClinVar, Disgenet, HPO, Orphanet	Ras signaling pathway
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2	617506 C4479577 MONDO:0054588	PPP1CB	Causal	27264673	ClinVar, Disgenet, GWAS catalog, HPO	mRNA surveillance pathway cGMP-PKG signaling pathway cAMP signaling pathway +22 more
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA	613563 C3150803 OMIM:613563	CBL	Unknown	23875798	CTD, Disgenet, HPO	ErbB signaling pathway Ubiquitin mediated proteolysis Endocytosis +22 more
		FOXH1	Unknown	—	Disgenet	Signaling by NODAL Signaling by Activin
		KIFC2	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		PTPN11	Unknown	11704759 11992261 12161469 12325025 12357036 12522798 12529711 12872825 14974085 15211660 15240615 15248152 15384080 15521065 15889278 15929108 15956085 15985475 16078230 16188759 16358218 16804314 17052965 17184563 17194341 17339163 17361219 17497712	Disgenet, ClinGen	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more

Noonan syndrome

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