Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ADULT NEURONAL CEROID LIPOFUSCINOSIS	MONDO:0019260	CTSF	Unknown	16508006 23297359 25274848 27524508 27668283 28749476 29120254 33578366 34561610 3513975	GWAS catalog	Lysosome Apoptosis MHC class II antigen presentation
ADULT NEURONAL CEROID LIPOFUSCINOSIS	MONDO:0019260	DNAJC5	Unknown	21820099 22073189 22235333 22978711 24277206 26659577 29506599 31919451 35462699	ClinVar	Protein processing in endoplasmic reticulum Neutrophil degranulation GABA synthesis, release, reuptake and degradation
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE	MESH:C537948	FIS1	Unknown	21224254	CTD	Mitophagy - animal Class I peroxisomal membrane protein import
		GFAP	Unknown	21224254	CTD	JAK-STAT signaling pathway Nuclear signaling by ERBB4
		MFN1	Unknown	21224254	CTD	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		PARP1	Unknown	21224254	CTD	Base excision repair NF-kappa B signaling pathway Apoptosis +9 more
		PPARGC1A	Unknown	21224254	CTD	AMPK signaling pathway Longevity regulating pathway Apelin signaling pathway +12 more
		PPT1	Unknown	21224254 27722792 7637805	CTD	Fatty acid elongation Metabolic pathways Fatty acid metabolism +2 more
		RPS6KB1	Unknown	21224254	CTD	EGFR tyrosine kinase inhibitor resistance Endocrine resistance ErbB signaling pathway +29 more
		SIRT1	Unknown	21224254	CTD	Nicotinate and nicotinamide metabolism Metabolic pathways FoxO signaling pathway +13 more
		SYP	Unknown	21224254	CTD	—
		TFAM	Unknown	21224254	CTD	Apelin signaling pathway Huntington disease Mitochondrial transcription initiation +1 more
CEROID LIPOFUSCINOSIS, NEURONAL 5	MESH:C575534	CLN5	Unknown	—	CTD	Lysosome
CEROID LIPOFUSCINOSIS, NEURONAL 8	MESH:C537952	CLN8	Unknown	—	CTD	—
CEROID LIPOFUSCINOSIS, NEURONAL, 1	C1850451 256730 MESH:C564953	CLN8	Unknown	—	Disgenet	—
		FIS1	Unknown	—	Disgenet	Mitophagy - animal Class I peroxisomal membrane protein import
		GFAP	Unknown	—	Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
		MFN1	Unknown	—	Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		PARP1	Unknown	—	Disgenet	Base excision repair NF-kappa B signaling pathway Apoptosis +9 more
		PPARGC1A	Unknown	—	Disgenet	AMPK signaling pathway Longevity regulating pathway Apelin signaling pathway +12 more
		PPT1	Unknown	9425237	CTD, Disgenet, HPO	Fatty acid elongation Metabolic pathways Fatty acid metabolism +2 more
		RPS6KB1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance ErbB signaling pathway +29 more
		SIRT1	Unknown	—	Disgenet	Nicotinate and nicotinamide metabolism Metabolic pathways FoxO signaling pathway +13 more
		SYP	Unknown	—	Disgenet	—
		TFAM	Unknown	—	Disgenet	Apelin signaling pathway Huntington disease Mitochondrial transcription initiation +1 more
CEROID LIPOFUSCINOSIS, NEURONAL, 10	610127 MESH:C566438	CTSD	Unknown	—	CTD, HPO	Sphingolipid signaling pathway Autophagy - animal Lysosome +9 more
CEROID LIPOFUSCINOSIS, NEURONAL, 11	C3539123 614706 OMIM:614706	FAM171A2	Unknown	—	Disgenet	—
CEROID LIPOFUSCINOSIS, NEURONAL, 11	C3539123 614706 OMIM:614706	GRN	Unknown	—	CTD, Disgenet, HPO	Neutrophil degranulation
CEROID LIPOFUSCINOSIS, NEURONAL, 13	615362 C3715049 OMIM:615362	CTSF	Unknown	—	CTD, Disgenet, HPO	Lysosome Apoptosis MHC class II antigen presentation
CEROID LIPOFUSCINOSIS, NEURONAL, 15	619173	CLCN6	Unknown	—	HPO	Stimuli-sensing channels Signaling by BRAF and RAF fusions
CEROID LIPOFUSCINOSIS, NEURONAL, 2	204500 C1876161 MESH:C566857	TPP1	Unknown	—	CTD, Disgenet, HPO	Lysosome XBP1(S) activates chaperone genes
CEROID LIPOFUSCINOSIS, NEURONAL, 3	204200	CLN3	Unknown	—	HPO	Lysosome
CEROID LIPOFUSCINOSIS, NEURONAL, 4	162350 MONDO:0008083	DNAJC5	Unknown	—	ClinVar, GenCC, HPO	Protein processing in endoplasmic reticulum Neutrophil degranulation GABA synthesis, release, reuptake and degradation
CEROID LIPOFUSCINOSIS, NEURONAL, 5	256731 C1850442	CLN5	Unknown	—	Disgenet, HPO	Lysosome
CEROID LIPOFUSCINOSIS, NEURONAL, 6	MESH:C566627	CLN6	Unknown	23516525	CTD	—
		GSK3B	Unknown	23516525	CTD	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Chemokine signaling pathway +59 more
		MAPK1	Unknown	23516525	CTD	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +161 more
		MAPK3	Unknown	23516525	CTD	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +158 more
		STX6	Unknown	23516525	CTD	SNARE interactions in vesicular transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		SYP	Unknown	23516525	CTD	—
CEROID LIPOFUSCINOSIS, NEURONAL, 6A	601780 C5551375 MONDO:0011144	CLN6	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
		SMPD1	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
		GSK3B	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Chemokine signaling pathway +59 more
		MAPK1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +161 more
		MAPK3	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +158 more
		STX6	Unknown	—	Disgenet	SNARE interactions in vesicular transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		SYP	Unknown	—	Disgenet	—
CEROID LIPOFUSCINOSIS, NEURONAL, 6B	204300 C5561927 MONDO:0008768	CLN6	Unknown	—	ClinVar, Disgenet, GenCC, HPO	—
CEROID LIPOFUSCINOSIS, NEURONAL, 7	610951 C1838571 MESH:C563989	MFSD8	Unknown	—	CTD, Disgenet, HPO	Lysosome
CEROID LIPOFUSCINOSIS, NEURONAL, 8	600143 C1838570	CLN8	Unknown	—	Disgenet, HPO	—
CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT	610003	CLN8	Unknown	—	HPO	—
CEROID LIPOFUSCINOSIS, NEURONAL, PARRY TYPE	C1834207	DNAJC5	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Neutrophil degranulation GABA synthesis, release, reuptake and degradation
CLN10 DISEASE	C5888338	CTSD	Unknown	—	Disgenet	Sphingolipid signaling pathway Autophagy - animal Lysosome +9 more
CLN11 DISEASE	314629	GRN	Unknown	32412666 34684815 34733232	Orphanet	Neutrophil degranulation
CLN12 DISEASE	314632	ATP13A2	Unknown	22388936	Orphanet	Ion transport by P-type ATPases
CLN13 DISEASE	352709	CTSF	Unknown	21990111 22778232	Orphanet	Lysosome Apoptosis MHC class II antigen presentation
CLN14 DISEASE	699708	KCTD7	Unknown	39350080	Orphanet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
CLN2 DISEASE	C5679830	TPP1	Unknown	—	Disgenet	Lysosome XBP1(S) activates chaperone genes
CLN4 DISEASE	228343	DNAJC5	Unknown	27629553	Orphanet	Protein processing in endoplasmic reticulum Neutrophil degranulation GABA synthesis, release, reuptake and degradation
CLN7 DISEASE	228366	MFSD8	Unknown	27238410 34733232	Orphanet	Lysosome
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	C0751383	CLN3	Causal	—	Disgenet	Lysosome
		TPP1	Causal	—	Disgenet	Lysosome XBP1(S) activates chaperone genes
		CLN5	Unknown	—	Disgenet	Lysosome
		CLN6	Unknown	—	Disgenet	—
		CLN8	Unknown	—	Disgenet	—
		CTSD	Unknown	—	Disgenet	Sphingolipid signaling pathway Autophagy - animal Lysosome +9 more
		CTSF	Unknown	—	Disgenet	Lysosome Apoptosis MHC class II antigen presentation
		DNAJC5	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Neutrophil degranulation GABA synthesis, release, reuptake and degradation
		FIS1	Unknown	—	Disgenet	Mitophagy - animal Class I peroxisomal membrane protein import
		GFAP	Unknown	—	Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
		GRN	Unknown	—	Disgenet	Neutrophil degranulation
		GSK3B	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Chemokine signaling pathway +59 more
		MAPK1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +161 more
		MAPK3	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +158 more
		MFN1	Unknown	—	Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		MFSD8	Unknown	—	Disgenet	Lysosome
		PARP1	Unknown	—	Disgenet	Base excision repair NF-kappa B signaling pathway Apoptosis +9 more
		PPARGC1A	Unknown	—	Disgenet	AMPK signaling pathway Longevity regulating pathway Apelin signaling pathway +12 more
		PPT1	Unknown	—	Disgenet	Fatty acid elongation Metabolic pathways Fatty acid metabolism +2 more
		RPS6KB1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance ErbB signaling pathway +29 more
		SIRT1	Unknown	—	Disgenet	Nicotinate and nicotinamide metabolism Metabolic pathways FoxO signaling pathway +13 more
		STX6	Unknown	—	Disgenet	SNARE interactions in vesicular transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		SYP	Unknown	—	Disgenet	—
		TFAM	Unknown	—	Disgenet	Apelin signaling pathway Huntington disease Mitochondrial transcription initiation +1 more
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS	C0022340	MFSD8	Causal	—	Disgenet	Lysosome
		CLN3	Unknown	—	Disgenet	Lysosome
		CLN5	Unknown	—	Disgenet	Lysosome
		CLN6	Unknown	—	Disgenet	—
		CLN8	Unknown	—	Disgenet	—
		CTSD	Unknown	—	Disgenet	Sphingolipid signaling pathway Autophagy - animal Lysosome +9 more
		CTSF	Unknown	—	Disgenet	Lysosome Apoptosis MHC class II antigen presentation
		DNAJC5	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Neutrophil degranulation GABA synthesis, release, reuptake and degradation
		FIS1	Unknown	—	Disgenet	Mitophagy - animal Class I peroxisomal membrane protein import
		GFAP	Unknown	—	Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
		GRN	Unknown	—	Disgenet	Neutrophil degranulation
		GSK3B	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Chemokine signaling pathway +59 more
		MAPK1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +161 more
		MAPK3	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +158 more
		MFN1	Unknown	—	Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		PARP1	Unknown	—	Disgenet	Base excision repair NF-kappa B signaling pathway Apoptosis +9 more
		PPARGC1A	Unknown	—	Disgenet	AMPK signaling pathway Longevity regulating pathway Apelin signaling pathway +12 more
		PPT1	Unknown	—	Disgenet	Fatty acid elongation Metabolic pathways Fatty acid metabolism +2 more
		RPS6KB1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance ErbB signaling pathway +29 more
		SIRT1	Unknown	—	Disgenet	Nicotinate and nicotinamide metabolism Metabolic pathways FoxO signaling pathway +13 more
		STX6	Unknown	—	Disgenet	SNARE interactions in vesicular transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		SYP	Unknown	—	Disgenet	—
		TFAM	Unknown	—	Disgenet	Apelin signaling pathway Huntington disease Mitochondrial transcription initiation +1 more
		TPP1	Unknown	—	Disgenet	Lysosome XBP1(S) activates chaperone genes
NEURONAL CEROID CIPOFUSCINOSIS TYPE 6	C5680906	CLN6	Unknown	—	Disgenet	—
		GSK3B	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Chemokine signaling pathway +59 more
		MAPK1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +161 more
		MAPK3	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +158 more
		STX6	Unknown	—	Disgenet	SNARE interactions in vesicular transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		SYP	Unknown	—	Disgenet	—
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
		GRN	Unknown	22608501 27021778 28000352 28404863 30922528 31855245	ClinGen, Disgenet	Neutrophil degranulation
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	—
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY	C1864669	CTSD	Unknown	—	Disgenet	Sphingolipid signaling pathway Autophagy - animal Lysosome +9 more
NEURONAL CEROID-LIPOFUSCINOSES	C0027877 MESH:D009472	ATP13A2	Unknown	22022275 22847264	CTD, Disgenet	Ion transport by P-type ATPases
		CLN3	Unknown	10749980 19489875 7553855 7887420 9311735 9450775	CTD, Disgenet, ClinGen	Lysosome
		CLN5	Unknown	15728307 18684116 20157158 9662406	Disgenet, ClinGen	Lysosome
		CLN6	Unknown	23789114	CTD, Disgenet, ClinGen	—
		CLN8	Unknown	22302580	CTD, Disgenet, ClinGen	—
		CTSD	Unknown	16670177 16685649	Disgenet, ClinGen	Sphingolipid signaling pathway Autophagy - animal Lysosome +9 more
		CTSF	Unknown	—	Disgenet	Lysosome Apoptosis MHC class II antigen presentation
		DNAJC5	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Neutrophil degranulation GABA synthesis, release, reuptake and degradation
		FIS1	Unknown	—	Disgenet	Mitophagy - animal Class I peroxisomal membrane protein import
		GFAP	Unknown	—	Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
		GRN	Unknown	—	Disgenet, ClinGen	Neutrophil degranulation
		GSK3B	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Chemokine signaling pathway +59 more
		KCTD7	Unknown	22748208 17455289 22693283	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		MAPK1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +161 more
		MAPK3	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +158 more
		MEFV	Unknown	—	Disgenet	NOD-like receptor signaling pathway Cytosolic DNA-sensing pathway Yersinia infection +2 more
		MFN1	Unknown	—	Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		MFSD8	Unknown	—	Disgenet, ClinGen	Lysosome
		PARP1	Unknown	—	Disgenet	Base excision repair NF-kappa B signaling pathway Apoptosis +9 more
		PPARGC1A	Unknown	—	Disgenet	AMPK signaling pathway Longevity regulating pathway Apelin signaling pathway +12 more
		PPT1	Unknown	29627028 33486620 7637805 9425237 9664077	Disgenet, ClinGen	Fatty acid elongation Metabolic pathways Fatty acid metabolism +2 more
		RPS6KB1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance ErbB signaling pathway +29 more
		SIRT1	Unknown	—	Disgenet	Nicotinate and nicotinamide metabolism Metabolic pathways FoxO signaling pathway +13 more
		SOD2	Unknown	—	Disgenet	FoxO signaling pathway Peroxisome Longevity regulating pathway +9 more
		STX6	Unknown	—	Disgenet	SNARE interactions in vesicular transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		SYP	Unknown	—	Disgenet	—
		TFAM	Unknown	—	Disgenet	Apelin signaling pathway Huntington disease Mitochondrial transcription initiation +1 more
		TPP1	Unknown	10320038 11589009	CTD, Disgenet, ClinGen	Lysosome XBP1(S) activates chaperone genes

Neuronal ceroid lipofuscinosis

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