Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
BIPOLAR DISORDER	MONDO_0004985 C0005586 MESH:D001714	AUTS2	Unknown	22925353	GWAS catalog	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
		AVP	Unknown	—	Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +12 more
		AVPR1B	Unknown	—	Disgenet	Calcium signaling pathway Phospholipase D signaling pathway Neuroactive ligand-receptor interaction +5 more
		B3GLCT	Unknown	34002096	GWAS catalog	Other types of O-glycan biosynthesis Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		BABAM2	Unknown	31043756 38154582 38858783	GWAS catalog	Homologous recombination Metalloprotease DUBs Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +3 more
		BAG1	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Regulation of HSF1-mediated heat shock response
		BAG5	Unknown	31835028 31926635 33479212	GWAS catalog	Regulation of HSF1-mediated heat shock response
		BAK1	Unknown	32606422 34159505	GWAS catalog	Platinum drug resistance Protein processing in endoplasmic reticulum Apoptosis +32 more
		BANK1	Unknown	23453885 31835028	GWAS catalog	B cell receptor signaling pathway
		BASP1	Unknown	23092984	GWAS catalog	—
		BCAS1	Unknown	20889312	GWAS catalog	—
		BCAS4	Unknown	21771265	GWAS catalog	—
		BCHE	Unknown	—	Disgenet	Neurotransmitter clearance Synthesis of PC Synthesis, secretion, and deacylation of Ghrelin
		BCL11B	Unknown	31043756 31835028 32606422 33479212 34002096 34159505	GWAS catalog	Transcriptional misregulation in cancer
		BCL2	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +46 more
		BCL9	Unknown	—	Disgenet	Formation of the beta-catenin:TCF transactivating complex Deactivation of the beta-catenin transactivating complex
		BCR	Unknown	—	Disgenet	Pathways in cancer Chronic myeloid leukemia Signaling by cytosolic FGFR1 fusion mutants +2 more
		BDKRB2	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Sphingolipid signaling pathway +10 more
		BDNF	Unknown	14708030 19018715	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway cAMP signaling pathway +9 more
		BHLHE40	Unknown	25395965	CTD, Disgenet	Circadian rhythm
		BHLHE41	Unknown	—	Disgenet	Circadian rhythm
		BICRAL	Unknown	17554300	GWAS catalog	ATP-dependent chromatin remodeling
		BID	Unknown	—	Disgenet	Platinum drug resistance Sphingolipid signaling pathway p53 signaling pathway +27 more
		BLTP1	Unknown	34002096 38154582	GWAS catalog	—
		BMAL1	Unknown	—	Disgenet	—
		BMAL2	Unknown	—	Disgenet	—
		BORCS7	Unknown	34159505	GWAS catalog	—
		BPI	Unknown	20889312	GWAS catalog	Toll Like Receptor 4 (TLR4) Cascade Neutrophil degranulation Antimicrobial peptides
		BRAF	Unknown	31835028 32606422 33479212 34002096	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
		BRCA2	Unknown	—	Disgenet	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		BRD1	Unknown	—	Disgenet	HATs acetylate histones Regulation of TP53 Activity through Acetylation
		BRI3BP	Unknown	24322204	GWAS catalog	—
		BRINP1	Unknown	31043756 31926635	GWAS catalog	—
		BSN	Unknown	38154582	GWAS catalog	—
		BTN2A1	Unknown	34002096 38154582	GWAS catalog	Butyrophilin (BTN) family interactions
		BTN3A1	Unknown	32606422	GWAS catalog	Butyrophilin (BTN) family interactions
		BTN3A2	Unknown	32606422	GWAS catalog	Butyrophilin (BTN) family interactions
		C12ORF76	Unknown	31043756	GWAS catalog	—
		C1ORF53	Unknown	31926635	GWAS catalog	—
		C6ORF118	Unknown	30217971 31926635	GWAS catalog	—
		C6ORF89	Unknown	34099189	GWAS catalog	—
		C7ORF33	Unknown	39024449	GWAS catalog	—
		C8ORF90	Unknown	31835028	GWAS catalog	—
		CACNA1A	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CACNA1B	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +13 more
		CACNA1C	Unknown	18711365 21926972 21926974 31043756 20351715 23453885 24280982 28072414 30626913 31835028 31926635 32606422 33263727 33479212 33686288 34002096 34159505 38154582	CTD, Disgenet, GWAS catalog	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		CACNA1D	Unknown	28194001	CTD, Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more
		CACNA1E	Unknown	31926635	GWAS catalog	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
		CACNA1I	Unknown	31835028	GWAS catalog	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +4 more
		CACNA2D1	Unknown	20889312	GWAS catalog	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
BIPOLAR I DISORDER	EFO_0009963 C0853193	B3GLCT	Unknown	34002096	GWAS catalog	Other types of O-glycan biosynthesis Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		BABAM2	Unknown	31043756	GWAS catalog	Homologous recombination Metalloprotease DUBs Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +3 more
		BCL2	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +46 more
		BLTP1	Unknown	34002096	GWAS catalog	—
		BRINP1	Unknown	31043756	GWAS catalog	—
		CACNA1C	Unknown	31043756 34002096	GWAS catalog	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	C0024713	AVPR1B	Unknown	—	Disgenet	Calcium signaling pathway Phospholipase D signaling pathway Neuroactive ligand-receptor interaction +5 more
		BDNF	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway cAMP signaling pathway +9 more
		BHLHE40	Unknown	—	Disgenet	Circadian rhythm
		BMAL1	Unknown	—	Disgenet	—
		BRD1	Unknown	—	Disgenet	HATs acetylate histones Regulation of TP53 Activity through Acetylation
		CACNA1C	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		CACNA1D	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more
MIXED BIPOLAR I DISORDER	C0236780	AVPR1B	Unknown	—	Disgenet	Calcium signaling pathway Phospholipase D signaling pathway Neuroactive ligand-receptor interaction +5 more
		BDNF	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway cAMP signaling pathway +9 more
		BHLHE40	Unknown	—	Disgenet	Circadian rhythm
		BMAL1	Unknown	—	Disgenet	—
		BRD1	Unknown	—	Disgenet	HATs acetylate histones Regulation of TP53 Activity through Acetylation
		CACNA1C	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		CACNA1D	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more

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