Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
NIEMANN-PICK DISEASE	MONDO:0001982	SMPD1	Unknown	—	GenCC	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
NIEMANN-PICK DISEASE TYPE A	MONDO:0009756	SMPD1	Unknown	1301192 19405096 1391960 2023926 1718266 8401540 8051942 12369017 9266408 12607113 1885770	GWAS catalog	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
NIEMANN-PICK DISEASE TYPE B	MONDO:0011871	SMPD1	Unknown	—	GenCC	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
NIEMANN-PICK DISEASE TYPE C, ADULT NEUROLOGIC ONSET	216986 C5680869 MONDO:0016310	NPC1	Unknown	20301473	Disgenet, GenCC, Orphanet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism +1 more
NIEMANN-PICK DISEASE TYPE C, ADULT NEUROLOGIC ONSET	216986 C5680869 MONDO:0016310	NPC2	Unknown	20301473	Disgenet, Orphanet	Lysosome Cholesterol metabolism Neutrophil degranulation +1 more
NIEMANN-PICK DISEASE TYPE C, JUVENILE NEUROLOGIC ONSET	216981 C5679813 MONDO:0016309	NPC1	Unknown	20301473	Disgenet, GWAS catalog, Orphanet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism +1 more
NIEMANN-PICK DISEASE TYPE C, JUVENILE NEUROLOGIC ONSET	216981 C5679813 MONDO:0016309	NPC2	Unknown	20301473	Disgenet, GenCC, Orphanet	Lysosome Cholesterol metabolism Neutrophil degranulation +1 more
NIEMANN-PICK DISEASE TYPE C, LATE INFANTILE NEUROLOGIC ONSET	216978 C5680867 MONDO:0016308	NPC1	Unknown	20301473	Disgenet, GWAS catalog, Orphanet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism +1 more
	216978 C5680867 MONDO:0016308	NPC2	Unknown	20301473	Disgenet, GWAS catalog, Orphanet	Lysosome Cholesterol metabolism Neutrophil degranulation +1 more
NIEMANN-PICK DISEASE TYPE C, SEVERE EARLY INFANTILE NEUROLOGIC ONSET	216975 C5680868 MONDO:0016307	NPC1	Unknown	20301473	Disgenet, GWAS catalog, Orphanet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism +1 more
	216975 C5680868 MONDO:0016307	NPC2	Unknown	20301473	Disgenet, GenCC, Orphanet	Lysosome Cholesterol metabolism Neutrophil degranulation +1 more
NIEMANN-PICK DISEASE TYPE C, SEVERE PERINATAL FORM	216972 C5680866 MONDO:0016306	NPC1	Unknown	20301473	Disgenet, GenCC, Orphanet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism +1 more
NIEMANN-PICK DISEASE TYPE C, SEVERE PERINATAL FORM	216972 C5680866 MONDO:0016306	NPC2	Unknown	20301473	Disgenet, GWAS catalog, Orphanet	Lysosome Cholesterol metabolism Neutrophil degranulation +1 more
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	C2675646	SMPD1	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
NIEMANN-PICK DISEASE, TYPE A	257200 C0268242 MESH:D052536	SMPD1	Causal	—	CTD, ClinVar, Disgenet, HPO	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
NIEMANN-PICK DISEASE, TYPE A	257200 C0268242 MESH:D052536	APBB1	Unknown	—	Disgenet	Alzheimer disease Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
NIEMANN-PICK DISEASE, TYPE B	607616 C0268243 MESH:D052537	SMPD1	Causal	—	CTD, ClinVar, Disgenet, HPO	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
NIEMANN-PICK DISEASE, TYPE B	607616 C0268243 MESH:D052537	APBB1	Unknown	—	Disgenet	Alzheimer disease Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
NIEMANN-PICK DISEASE, TYPE C	C0220756 MESH:D052556	NPC1	Causal	22216111 9802331	CTD, Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism +1 more
		NPC2	Causal	—	Disgenet	Lysosome Cholesterol metabolism Neutrophil degranulation +1 more
		LIPA	Unknown	20557099	CTD	Steroid biosynthesis Lysosome Efferocytosis +2 more
		RMC1	Unknown	—	Disgenet	—
NIEMANN-PICK DISEASE, TYPE C1	257220 C3179455 MONDO:0009757	NPC1	Causal	27604308	ClinGen, ClinVar, Disgenet, GenCC, HPO	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism +1 more
		NPC2	Causal	—	Disgenet	Lysosome Cholesterol metabolism Neutrophil degranulation +1 more
		SMPD1	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
		ACYP1	Unknown	—	Disgenet	Pyruvate metabolism Metabolic pathways
		LIPA	Unknown	—	Disgenet	Steroid biosynthesis Lysosome Efferocytosis +2 more
		RMC1	Unknown	—	Disgenet	—
		SYNDIG1L	Unknown	—	Disgenet	—
NIEMANN-PICK DISEASE, TYPE C2	C1843366 607625 MESH:C536119 MONDO:0011873	NPC1	Causal	—	Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism +1 more
		NPC2	Causal	11567215 17470133 12447927 11125141	ClinGen, CTD, ClinVar, Disgenet, GenCC, HPO	Lysosome Cholesterol metabolism Neutrophil degranulation +1 more
		ACYP1	Unknown	—	Disgenet	Pyruvate metabolism Metabolic pathways
NIEMANN-PICK DISEASE, TYPE D	C0268247	NPC1	Unknown	—	Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism +1 more
NIEMANN-PICK DISEASES	C0028064 MESH:D009542	APBB1	Unknown	—	Disgenet	Alzheimer disease Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		NPC1	Unknown	10480349 10521297 11333381 11349231 11479732 12554680 9211849 9245994	Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism +1 more
		NPC2	Unknown	11125141 11567215 12447927 17470133	Disgenet	Lysosome Cholesterol metabolism Neutrophil degranulation +1 more
		SMPD1	Unknown	12631268	CTD, Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more

Niemann-pick disease

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