Neuronal ceroid lipofuscinosis | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CEROID LIPOFUSCINOSIS, NEURONAL, 6A	601780 C5551375 MONDO:0011144	CLN6	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
CEROID LIPOFUSCINOSIS, NEURONAL, 6A	601780 C5551375 MONDO:0011144	SMPD1	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	C0751383	CLN3	Causal	—	Disgenet	Lysosome
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	C0751383	TPP1	Causal	—	Disgenet	Lysosome XBP1(S) activates chaperone genes
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS	C0022340	MFSD8	Causal	—	Disgenet	Lysosome
NEURONAL CEROID LIPOFUSCINOSIS	MONDO:0016295	CLN3	Causal	19135632 19489875 21499717 31926949	ClinGen, GWAS catalog	Lysosome
		CLN5	Causal	10953198 12134079 18684116 19201763 20157158 27203721 9662406	ClinGen, GWAS catalog	Lysosome
		CLN6	Causal	11727201 11791207 12673792 19135028 22012656 24223841 30561534 31331814 32597833	ClinGen, GWAS catalog	—
		CLN8	Causal	10508524 15024724 19201763 19807737 24953404 26075876	ClinGen, GWAS catalog	—
		CTSD	Causal	10856224 10995834 12350228 16386934 16670177 16685649 18762956 23101555 23374165 25298308 26059544 27072142 27353043 31086824 31282275 3543065	ClinGen, GWAS catalog	Sphingolipid signaling pathway Autophagy - animal Lysosome +9 more
		MFSD8	Causal	17564970 19201763 26681805 30301600 31597037	CTD, ClinGen	Lysosome
		PPT1	Causal	11717424 19302939 19793312 31289301 31741823	ClinGen, GWAS catalog	Fatty acid elongation Metabolic pathways Fatty acid metabolism +2 more
		TPP1	Causal	10330339 12134079 12376936 15317752 15483130 16452657 16621647 17180118 17637720 17959406 18343701 18344450 18362923 18639872 19793312 19941651 21730969 21745338 21784683 23587805 24394185 24938720 24954537 25257657 26560358 27343	ClinGen, GWAS catalog	Lysosome XBP1(S) activates chaperone genes
NEURONAL CEROID LIPOFUSCINOSIS 1	MONDO:0009744	PPT1	Causal	—	ClinVar, GenCC	Fatty acid elongation Metabolic pathways Fatty acid metabolism +2 more
NEURONAL CEROID LIPOFUSCINOSIS 10	MONDO:0012414	CTSD	Causal	16685649 16670177	ClinVar, GWAS catalog	Sphingolipid signaling pathway Autophagy - animal Lysosome +9 more
NEURONAL CEROID LIPOFUSCINOSIS 11	MONDO:0013866	GRN	Causal	22608501 27021778	ClinVar	Neutrophil degranulation
NEURONAL CEROID LIPOFUSCINOSIS 13	MONDO:0014147	CTSF	Causal	—	ClinVar, GenCC	Lysosome Apoptosis MHC class II antigen presentation
NEURONAL CEROID LIPOFUSCINOSIS 2	MONDO:0008769	TPP1	Causal	—	ClinVar, GenCC	Lysosome XBP1(S) activates chaperone genes
NEURONAL CEROID LIPOFUSCINOSIS 3	MONDO:0008767	CLN3	Causal	—	ClinVar, GenCC	Lysosome
NEURONAL CEROID LIPOFUSCINOSIS 5	MONDO:0009745	CLN5	Causal	—	ClinVar, GenCC	Lysosome
NEURONAL CEROID LIPOFUSCINOSIS 7	MONDO:0012588	MFSD8	Causal	25227500 31006324	ClinVar, GWAS catalog	Lysosome
NEURONAL CEROID LIPOFUSCINOSIS 8	MONDO:0010830	CLN8	Causal	—	ClinVar, GenCC	—
NEURONAL CEROID LIPOFUSCINOSIS 8 NORTHERN EPILEPSY VARIANT	MONDO:0012391	CLN8	Causal	—	ClinVar, GenCC	—