Systemic mastocytosis | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
SYSTEMIC MASTOCYTOSIS	MONDO_0016586	ABCA1	Unknown	32752121	GWAS catalog	ABC transporters Efferocytosis Fat digestion and absorption +6 more
		ABCA2	Unknown	32752121	GWAS catalog	ABC transporters Lysosome ABC transporters in lipid homeostasis
		CACNA1E	Unknown	32752121	GWAS catalog	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
		CDKAL1	Unknown	32752121	GWAS catalog	tRNA modification in the nucleus and cytosol
		CLIC1	Unknown	32752121	GWAS catalog	—
		EYS	Unknown	32752121	GWAS catalog	—
		HBE1	Unknown	32752121	GWAS catalog	Factors involved in megakaryocyte development and platelet production
		HBG2	Unknown	32752121	GWAS catalog	Factors involved in megakaryocyte development and platelet production
		MEGF6	Unknown	32752121	GWAS catalog	—
		MOCS1	Unknown	32752121	GWAS catalog	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors +1 more
		MSH5	Unknown	32752121	GWAS catalog	—
		NAV3	Unknown	32752121	GWAS catalog	—
		NCR3	Unknown	32752121	GWAS catalog	Natural killer cell mediated cytotoxicity Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
		OR51B5	Unknown	32752121	GWAS catalog	Olfactory transduction Olfactory Signaling Pathway
		OR51Q1	Unknown	32752121	GWAS catalog	Olfactory transduction Olfactory Signaling Pathway
		SPMIP2	Unknown	32752121	GWAS catalog	—
		TPSAB1	Unknown	32752121	GWAS catalog	Influenza A Activation of Matrix Metalloproteinases
		TPSD1	Unknown	32752121	GWAS catalog	Influenza A
		TTC39B	Unknown	32752121	GWAS catalog	—
SYSTEMIC MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC NEOPLASM	98849	ASXL1	Unknown	25567135	Orphanet	Polycomb repressive complex UCH proteinases
		KIT	Unknown	9856847 19865100 23958953 9797083 23074272 17710669 15160946 15920007 30612056 19116630 19193436 20153505 17096902 30304655 9827716 9990072 16741248 20434205 18663058 21354053 21656905 18404201 20061010	Orphanet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +15 more
		SRSF2	Unknown	25567135	Orphanet	Spliceosome Herpes simplex virus 1 infection Transport of Mature mRNA derived from an Intron-Containing Transcript +4 more
		TET2	Unknown	25567135	Orphanet	—