Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	HTT	Causal	15218539 15312898 16137562 17018277 17925440 18831068 19094060 19476553 20929960 21867705 28111121 20301482 21566141	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO, Orphanet	Huntington disease Pathways of neurodegeneration - multiple diseases
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	ABAT	Unknown	—	Disgenet	Alanine, aspartate and glutamate metabolism Valine, leucine and isoleucine degradation beta-Alanine metabolism +5 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	ADD1	Unknown	28642124	GWAS catalog	Caspase-mediated cleavage of cytoskeletal proteins XBP1(S) activates chaperone genes Miscellaneous transport and binding events
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	ADGB	Unknown	28642124	GWAS catalog	—
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	AIFM1	Unknown	12930891	CTD, Disgenet	Apoptosis Necroptosis
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	AQP1	Unknown	28642124	GWAS catalog	Renin secretion Proximal tubule bicarbonate reclamation Bile secretion +4 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	ATF5	Unknown	28861715	CTD, Disgenet	—
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	ATRNL1	Unknown	28642124	GWAS catalog	—
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	BDNF	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway cAMP signaling pathway +9 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	BRF1	Unknown	28642124	GWAS catalog	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	CNR1	Unknown	20929960	CTD, Disgenet	Rap1 signaling pathway Neuroactive ligand-receptor interaction Thermogenesis +3 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	CNTF	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway IL-6-type cytokine receptor ligand interactions
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	CRPPA	Unknown	29750799	GWAS catalog	Pentose and glucuronate interconversions Mannose type O-glycan biosynthesis Metabolic pathways
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	DIABLO	Unknown	12930891	CTD, Disgenet	Apoptosis Apoptosis - multiple species Release of apoptotic factors from the mitochondria +4 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	EFR3A	Unknown	28642124	GWAS catalog	—
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	EIF2AK2	Unknown	—	Disgenet	Necroptosis Alzheimer disease Hepatitis C +10 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	FAAH	Unknown	20929960	CTD, Disgenet	Retrograde endocannabinoid signaling Arachidonic acid metabolism
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	FAN1	Unknown	29750799	GWAS catalog	Fanconi anemia pathway Fanconi Anemia Pathway
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	GDNF	Unknown	16943855	CTD, Disgenet	MAPK signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway +2 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	GFRA1	Unknown	28642124	GWAS catalog	RAF/MAP kinase cascade RET signaling
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	GLUL	Unknown	—	Disgenet	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Glyoxylate and dicarboxylate metabolism +8 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	GRIK2	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Glutamatergic synapse Activation of Na-permeable kainate receptors +1 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	GRIN2A	Unknown	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +19 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	GRIN2B	Unknown	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +22 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	HAP1	Unknown	—	Disgenet	GABAergic synapse Amyotrophic lateral sclerosis Huntington disease +1 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	HSF1	Unknown	—	Disgenet	Legionellosis Regulation of HSF1-mediated heat shock response HSF1 activation +2 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	IGF1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +35 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	IL6	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Antifolate resistance Cytokine-cytokine receptor interaction +59 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	IL6R	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor +13 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	IP6K2	Unknown	21652713	CTD, Disgenet	Phosphatidylinositol signaling system Synthesis of IPs in the nucleus Interferon alpha/beta signaling
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	JPH3	Unknown	—	Disgenet	—
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	KIF9	Unknown	28642124	GWAS catalog	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	MAOA	Unknown	21075085	CTD, Disgenet	Glycine, serine and threonine metabolism Arginine and proline metabolism Histidine metabolism +18 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	MAOB	Unknown	21075085	CTD, Disgenet	Glycine, serine and threonine metabolism Arginine and proline metabolism Histidine metabolism +12 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	MAP3K5	Unknown	—	Disgenet	Platinum drug resistance MAPK signaling pathway Sphingolipid signaling pathway +18 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	MINDY4	Unknown	28642124	GWAS catalog	—
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	MSH3	Unknown	28642124	GWAS catalog	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	MTMR10	Unknown	28642124	GWAS catalog	—
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	NOG	Unknown	—	Disgenet	TGF-beta signaling pathway Signaling by BMP
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	NPY	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Adipocytokine signaling pathway +5 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	NPY2R	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Peptide ligand-binding receptors G alpha (i) signalling events
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	NRF1	Unknown	—	Disgenet	Apelin signaling pathway Huntington disease PPARA activates gene expression +1 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	OGG1	Unknown	19857538	CTD, Disgenet	Base excision repair Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine +7 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	OR10A2	Unknown	28642124	GWAS catalog	Olfactory transduction Olfactory Signaling Pathway
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	PPARGC1A	Unknown	—	Disgenet	AMPK signaling pathway Longevity regulating pathway Apelin signaling pathway +12 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	PRDM9	Unknown	28642124	GWAS catalog	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	PRKAA1	Unknown	—	Disgenet	FoxO signaling pathway Autophagy - animal mTOR signaling pathway +21 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	PRNP	Unknown	—	Disgenet	Ferroptosis Prion disease Pathways of neurodegeneration - multiple diseases +1 more
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	PTDSS1	Unknown	28642124	GWAS catalog	Glycerophospholipid metabolism Metabolic pathways Synthesis of PS
HUNTINGTON DISEASE	143100 399 C0020179 MESH:D006816 MONDO:0007739 MONDO_0007739	PTPRM	Unknown	28642124	GWAS catalog	Cell adhesion molecules Adherens junction
HUNTINGTON DISEASE-LIKE 1	157941 603218 C1864112 MESH:C566398 MONDO:0011299	PRNP	Causal	11593450 24275071	CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet	Ferroptosis Prion disease Pathways of neurodegeneration - multiple diseases +1 more
HUNTINGTON DISEASE-LIKE 2	606438 98934 C1847987 MESH:C564708 MONDO:0011671	JPH3	Unknown	—	CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet	—
JUVENILE HUNTINGTON DISEASE	248111 MONDO:0016621	HTT	Unknown	17181545	GWAS catalog, Orphanet, ClinGen	Huntington disease Pathways of neurodegeneration - multiple diseases

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Huntington disease

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