Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
UVEAL MELANOMA	39044 MESH:D000098943 EFO_1000616	BAP1	Causal	21051595 21874000 25231345 26719535 21941004	CTD, Orphanet	Polycomb repressive complex UCH proteinases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		MBD4	Causal	29760383 32239153 30049810	CTD, ClinGen	Base excision repair Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine +1 more
		PLCB4	Causal	27089179	CTD	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +62 more
		ACTR6	Unknown	31626034	GWAS catalog	ATP-dependent chromatin remodeling
		ADAMTSL1	Unknown	34424336	GWAS catalog	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		AP2B1	Unknown	31626034	GWAS catalog	Endocytosis Synaptic vesicle cycle Endocrine and other factor-regulated calcium reabsorption +14 more
		ARL6IP6	Unknown	31626034	GWAS catalog	—
		BRINP1	Unknown	31626034	GWAS catalog	—
		CACNA2D1	Unknown	31626034	GWAS catalog	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CLPTM1L	Unknown	28781888 34424336 40495383	GWAS catalog	—
		CORO2A	Unknown	34424336	GWAS catalog	—
		CYSLTR2	Unknown	27089179 33288675	CTD, Orphanet	Calcium signaling pathway Neuroactive ligand-receptor interaction Glucagon signaling in metabolic regulation +6 more
		DEPDC4	Unknown	31626034	GWAS catalog	—
		DYNAP	Unknown	31626034	GWAS catalog	—
		EIF1AX	Unknown	23793026	CTD	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Formation of a pool of free 40S subunits +3 more
		FABP1	Unknown	31626034	GWAS catalog	PPAR signaling pathway Alcoholic liver disease Fat digestion and absorption +4 more
		GFRA1	Unknown	31626034	GWAS catalog	RAF/MAP kinase cascade RET signaling
		GNA11	Unknown	21083380 22733540 26397223 27089179 23714557	CTD, Orphanet	Calcium signaling pathway cGMP-PKG signaling pathway Hormone signaling +23 more
		GNAQ	Unknown	21083380 22733540 26397223 27089179 23714557	CTD, Orphanet	Rap1 signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +52 more
		GNB5	Unknown	31626034	GWAS catalog	Ras signaling pathway Chemokine signaling pathway Hormone signaling +43 more
		HERC2	Unknown	34424336 40495383	GWAS catalog	Ubiquitin mediated proteolysis SUMOylation of DNA damage response and repair proteins Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +4 more
		IRF4	Unknown	34424336 40495383	GWAS catalog	Th17 cell differentiation Interleukin-4 and Interleukin-13 signaling Interferon gamma signaling +1 more
		JMJD6	Unknown	30619488	CTD	HDMs demethylate histones
		KCNJ3	Unknown	31626034	GWAS catalog	Circadian entrainment Retrograde endocannabinoid signaling Glutamatergic synapse +9 more
		LRP1B	Unknown	31626034	GWAS catalog	—
		LSM3	Unknown	31626034 40495383	GWAS catalog	RNA degradation Spliceosome mRNA decay by 5' to 3' exoribonuclease +1 more
		MGAT5	Unknown	34424336	GWAS catalog	N-Glycan biosynthesis Metabolic pathways N-Glycan antennae elongation
		MOGAT1	Unknown	31626034	GWAS catalog	Glycerolipid metabolism Metabolic pathways Triglyceride biosynthesis
		OCA2	Unknown	28781888	GWAS catalog	Melanin biosynthesis
		PRELID3A	Unknown	31626034	GWAS catalog	TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
		RAB27B	Unknown	31626034	GWAS catalog	Pancreatic secretion Platelet degranulation RAB geranylgeranylation +1 more
		RREB1	Unknown	31626034 40495383	GWAS catalog	—
		SF3B1	Unknown	23313955 23793026 23714557 23861464	CTD, Orphanet	Spliceosome B-WICH complex positively regulates rRNA expression mRNA Splicing - Major Pathway +1 more
		SGPL1	Unknown	31626034	GWAS catalog	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		STAP1	Unknown	31626034	GWAS catalog	—
		TDP1	Unknown	31626034	GWAS catalog	Base excision repair Nonhomologous End-Joining (NHEJ)
		THNSL2	Unknown	31626034	GWAS catalog	—
		TRIM29	Unknown	34424336	GWAS catalog	Interferon gamma signaling
		TRIM36	Unknown	34424336	GWAS catalog	Antigen processing: Ubiquitination & Proteasome degradation
		UNC5B	Unknown	31626034	GWAS catalog	Axon guidance

Uveal melanoma

Bookmark This Disease