Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
NOONAN SYNDROME	C0028326 MONDO:0018997 MESH:D009634 648	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	C4551602	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 3	C1860991	LRRC56	Unknown	—	Disgenet	—
NOONAN SYNDROME 3	C1860991	SHOC2	Unknown	—	Disgenet	Ras signaling pathway
NOONAN SYNDROME 5	C1969057	MKRN2	Unknown	—	Disgenet	—
NOONAN SYNDROME AND NOONAN-RELATED SYNDROME	C5681679 MONDO:0020297	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	MONDO:0007893	MAP2K1	Unknown	21396583 23321623	ClinGen, GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +99 more
NOONAN SYNDROME WITH MULTIPLE LENTIGINES	MONDO:0007893	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 LOOSE ANAGEN HAIR	C1843181 MONDO:0011899	HRAS	Unknown	—	ClinGen, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 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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