Leopard syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
LEOPARD SYNDROME	C0175704 MESH:D044542	BRAF	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
LEOPARD SYNDROME	C0175704 MESH:D044542	EPHA2	Unknown	22845314	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +5 more
LEOPARD SYNDROME	C0175704 MESH:D044542	MAP2K1	Unknown	21396583 23321623	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +99 more
LEOPARD SYNDROME	C0175704 MESH:D044542	MAP2K2	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +87 more
LEOPARD SYNDROME	C0175704 MESH:D044542	NRAS	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
LEOPARD SYNDROME	C0175704 MESH:D044542	PPP1R13L	Unknown	—	Disgenet	NF-kappa B signaling pathway p53 signaling pathway Regulation of TP53 Activity through Association with Co-factors
LEOPARD SYNDROME	C0175704 MESH:D044542	PTEN	Unknown	11685670	CTD, Disgenet	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +37 more
LEOPARD SYNDROME	C0175704 MESH:D044542	PTPN11	Unknown	17603483	CTD, Disgenet	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
LEOPARD SYNDROME	C0175704 MESH:D044542	RAF1	Unknown	17603483	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
LEOPARD SYNDROME 1	151100 C4551484 MONDO:0100082	PTPN11	Causal	27484170 26377839 25917897 25884655 24820750 22822385 21910226 23799168 21747628 21677813 21365175 19864201 19768645 19659470 19054014 24790373 17927788 17875892 16733669 15520399 12058348 17697839 11992261 16358218 15121796 16377	ClinVar, Disgenet, GWAS catalog, HPO	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
LEOPARD SYNDROME 1	151100 C4551484 MONDO:0100082	RPL6	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
LEOPARD SYNDROME 2	611554 C1969056 MONDO:0012691	RAF1	Causal	17603482 17603483	ClinVar, Disgenet, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
LEOPARD SYNDROME 2	611554 C1969056 MONDO:0012691	MKRN2	Unknown	—	Disgenet	—
LEOPARD SYNDROME 3	613707 C3150971 MONDO:0013380 OMIM:613707	BRAF	Causal	19206169 21396583	CTD, ClinVar, Disgenet, GenCC, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
LEOPARD SYNDROME, 2	MESH:C537117	RAF1	Unknown	17603482 17603483	CTD	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more