Warburg micro syndrome | 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
WARBURG MICRO SYNDROME	C5442005 MONDO:0016649	RAB3GAP1	Causal	15696165 20512159 23420520 25326635 26421802	CTD, ClinGen, Disgenet	COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs
		RAB18	Unknown	21473985 23420520 24764192 25779931 26879639	ClinGen, Disgenet, GWAS catalog	Neutrophil degranulation COPI-independent Golgi-to-ER retrograde traffic RAB geranylgeranylation +1 more
		RAB3GAP2	Unknown	16532399 20967465 23420520 24891604 32376645 32740904	ClinGen, Disgenet	COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs
		TBC1D20	Unknown	24239381	Disgenet, GWAS catalog	COPII-mediated vesicle transport TBC/RABGAPs
WARBURG MICRO SYNDROME 1	600118 C1838625 MONDO:0010822	RAB3GAP1	Causal	15216543 15696165 20512159 10465117 29675078	ClinVar, Disgenet, HPO	COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs
		RAB18	Unknown	—	Disgenet	Neutrophil degranulation COPI-independent Golgi-to-ER retrograde traffic RAB geranylgeranylation +1 more
		RAB3GAP2	Unknown	—	Disgenet	COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs
		TBC1D20	Unknown	—	Disgenet	COPII-mediated vesicle transport TBC/RABGAPs
WARBURG MICRO SYNDROME 2	614225 C3280214 MONDO:0013641	RAB3GAP2	Causal	16532399 23420520	CTD, ClinVar, Disgenet, HPO	COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs
WARBURG MICRO SYNDROME 3	614222 C3280203 MONDO:0013638	RAB18	Causal	21473985 29300443 26063829	CTD, ClinVar, Disgenet, HPO	Neutrophil degranulation COPI-independent Golgi-to-ER retrograde traffic RAB geranylgeranylation +1 more
WARBURG MICRO SYNDROME 4	615663 C3810265 MONDO:0014296	TBC1D20	Causal	24239381	ClinVar, Disgenet, GWAS catalog, HPO	COPII-mediated vesicle transport TBC/RABGAPs
WARBURG SJO FLEDELIUS SYNDROME	MESH:C536681	RAB18	Unknown	21473985 26063829 29300443	CTD, ClinGen	Neutrophil degranulation COPI-independent Golgi-to-ER retrograde traffic RAB geranylgeranylation +1 more
		RAB3GAP1	Unknown	10465117 15216543 15696165 20512159 29675078	CTD, ClinGen	COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs
		RAB3GAP2	Unknown	—	CTD, ClinGen	COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs
		TBC1D20	Unknown	24239381	CTD	COPII-mediated vesicle transport TBC/RABGAPs