Disease table of WAARDENBURG SYNDROME OMIM ID: PS193500

Gene-disease associations table

Gene	Associated with WAARDENBURG SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
SOX10	ClinVar, OMIM, HUMSAVAR	HGNC link	22q13.1	2	PS193500, 609136
SNAI2	OMIM	HGNC link	8q11.21	2	PS193500, 172800
PAX3	ClinVar, OMIM, HUMSAVAR	HGNC link	2q36.1	4	268220, PS193500, 142340, 122880
MITF	ClinVar, OMIM, HUMSAVAR	HGNC link	3p13	3	103500, PS155600, PS193500
EDN3	ClinVar, OMIM, HUMSAVAR	HGNC link	20q13.32	3	PS193500, PS142623, 209880
EDNRB	ClinVar, OMIM, HUMSAVAR	HGNC link	13q22.3	3	PS193500, 600501, PS142623
TYR	OMIM	HGNC link	11q14.3	4	PS193500, PS227220, PS155600, PS203100

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
SOX10	YES	11	COL11A2, GJB1, GJC2, NES, PMP22, EDNRB, MBP, MIA, MITF, MPZ, RET	2	EDNRB, MITF
SNAI2	YES	21	PTN, JAG1, L1CAM, CDH2, MMP2, MET, CXCL12, CXCR4, MMP9, FZD1, CDH1, VDR, CD44, CXADR, UBE2D3, LPAR2, CTGF, NETO2, HPGD, MMP17, POU5F1	0
PAX3	YES	6	BCL2L1, DPYSL2, MET, CXCR4, MITF, SHH	1	MITF
MITF	YES	27	BEST1, MET, MC1R, TYR, BCL2A1, TRAP, FOS, DCT, BIRC7, TRPM1, CD82, ITGA4, PPARGC1A, KIT, GPNMB, MLANA, KCNMA1, OCA2, PMEL, HOXB4, CDK2, PRKCB, TYRP1, CTSK, HIF1A, ACP5, SERPINF1	1	TYR
POU3F2	NO	8	FABP7, FOXP2, NKX2-1, PDE5A, DDC, GNRH1, PAX3, MITF	2	PAX3, MITF
SOX9	NO	25	SF1, AR, COL11A2, RET, RXFP2, NR5A1, CDK4, BEST1, DCT, TYR, COL2A1, KLF4, MIA, DCC, PRAME, SOX10, CDKN1A, NES, HES1, CEACAM1, MITF, AMH, SHH, POU3F2, ETV2	3	TYR, MITF, SOX10
CREB1	NO	90	NDC80, NRF1, IFNG, NR2F1, CYP19A1, CASP8, LDHA, SMAD6, SLC19A1, GSK3A, IL10, PSEN1, PPP2R2B, JUN, HPGD, IL2, GABPA, MC2R, CRTC1, AR, FLT1, SLC39A1, BDKRB2, NPY, PTGS2, MSMB, CFTR, HMOX1, MITF, AQP3, MUC5AC, STMN1, TRH, PCSK1, MMP2, CYP17A1, NOLC1, PRL, NMNAT2, TLR9, NTS, PLAT, FOS, BCL2L11, MUC4, GSK3B, CYP11B1, PPM1D, CCK, ETV3, PTGES, UXT, HLA-DOB, CGA, XPC, ACACA, SLC22A8, TH, VIP, BDKRB1, CYP11B2, POLD2, LAPTM4B, SOX9, PLAU, SNAI1, PPP2CA, SNAI2, SPRY2, HLA-DQB1, CCL5, CXCR4, ADRA1A, NR5A2, ERBB2, GRPR, BDNF, NR4A3, IL5RA, SLC20A1, RRM2B, LYL1, BCL2, CD4, NR2F6, NF1, IL6, CYP11A1, ODC1, FOXA1	2	SNAI2, MITF
LEF1	NO	32	AR, OCA2, PRL, NT5E, DLL1, CD1D, NCAM1, MMP7, CCL7, CEBPA, CCND1, CHGA, TCF3, CTNNB1, ALX4, BIRC5, RAG2, CLDN2, NRCAM, SPP1, MITF, IL13, SNAI2, EDA, IL4, DSG4, IL5, ELANE, ESR1, CTLA4, MYC, MYCBP	2	SNAI2, MITF

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
SOX10	YES	1	SOX9	0
SNAI2	YES	14	WT1, NCOR1, LEF1, RUNX2, TCF7, HDAC1, MTA1, HDAC2, TCF7L2, CREB1, EZH2, PER2, POU2F1, ESRRA	0
PAX3	YES	3	POU3F2, STAT3, TEAD1	0
MITF	YES	14	FOXD3, LEF1, SOX9, TCF4, POU3F2, ATF1, TRRAP, CREB1, ONECUT2, ONECUT1, PIAS3, PAX3, ZNF382, SOX10	2	PAX3, SOX10
EDNRB	YES	3	SP1, HIF1A, SOX10	1	SOX10
TYR	YES	4	TFEB, OTX2, SOX9, MITF	1	MITF
CXCR4	NO	24	IRF2, BCL6, NRF1, SNAI2, CREB1, KLF5, USF2, HDAC3, DNMT1, FOXO1, ERG, VHL, CREB3, PAX3, RELA, NFKB1, ETS1, HIF1A, YY1, YBX1, KLF2, MYC, ZBTB16, USF1	2	SNAI2, PAX3
MET	NO	13	SP1, FOXP2, PAX3, SMAD7, TP53, SNAI2, HIF1A, MITF, SP3, YBX1, PAX5, PAX6, STAT1	3	SNAI2, PAX3, MITF

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
SOX10	PAX3	Yes	1	POU3F2
SOX10	MITF	No	1	EPAS1
SNAI2	PAX3	No	1	HDAC1
SNAI2	MITF	No	2	APP, STUB1
EDN3	EDNRB	Yes	0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
SOX10	PAX3	Yes	0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
SNAI2	PAX3	No	-	4	NOG, DICER1, BMP4, RUNX2
SNAI2	MITF	No	-	7	KIT, BMP4, SOX9, LEF1, TP53, CTNNB1, DICER1
SNAI2	EDNRB	No	-	1	MMP9
PAX3	MITF	Yes	activation, binding	7	BCL2, BMP4, MET, POU3F2, FOXD3, DICER1, TBX2
PAX3	EDN3	No	-	1	MITF
PAX3	EDNRB	No	-	1	MITF
MITF	EDN3	Yes	activation, binding	3	EDNRB, FOS, EDN1
MITF	EDNRB	Yes	expression, binding	3	MAPK14, EDN3, EDN1
EDN3	EDNRB	Yes	binding	122	P2RY6, GPR17, KISS1, AGT, XCL1, PTGFR, GPR65, GHSR, CYSLTR2, ANXA1, NTS, CYSLTR1, EDN1, NPS, GCGR, SAA1, NMUR1, XCR1, F2R, HCRT, LPAR6, FFAR1, GNRH2, GNA14, EDN2, F2RL3, GPR68, NMUR2, GRM1, GCG, QRFP, GNRH1, OXT, GRP, PTAFR, CASR, F2RL1, PROK2, TAC1, TAC3, GNRHR, OPN4, FFAR3, NPFF, NPFFR2, P2RY1, F2RL2, FFAR2, PROK1, MITF, XCL2, TRH, GPR132, TACR1, ADRA1B, QRFPR, HCRTR2, P2RY10, HRH1, GPRC6A, EDNRA, GNG2, FPR2, TBXA2R, MLNR, CCKBR, LPAR3, APP, GNA15, NMBR, UTS2R, LPAR1, CCK, BDKRB2, MCHR2, NMB, AGTR1, NTSR2, LPAR5, AVPR1A, HCRTR1, OXTR, GNAQ, MLN, TRHR, LTB4R, GNA11, GPR4, BDKRB1, CHRM5, P2RY2, AVP, LTB4R2, PMCH, PROKR1, GRM5, NPSR1, KNG1, CCKAR, KISS1R, NTSR1, TACR3, GNB1, NPFFR1, MTRNR2L2, CHRM1, HTR2B, TACR2, GRPR, NMU, CHRM3, PTGER1, PROKR2, UTS2D, LPAR4, NMS, ADRA1D, HTR2A, ADRA1A, MCHR1, LPAR2, UTS2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Melanogenesis	hsa04916	5.97	3	EDNRB, TYR, MITF
Pathways in cancer	hsa05200	3.98	2	EDNRB, MITF

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Melanogenesis (hsa04916)	-	5.97	0.001	TYR, EDNRB, PAX3, MITF
Cellular community	NEW	3.57	0.028	SNAI2, EDNRB, PAX3, MITF, SOX10

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Signaling by GPCR	R-HSA-372790	2.68	2	EDNRB, EDN3
GPCR downstream signaling	R-HSA-388396	3.07	2	EDN3, EDNRB
Class A/1 (Rhodopsin-like receptors)	R-HSA-373076	4.69	2	EDN3, EDNRB
Gastrin-CREB signalling pathway via PKC and MAPK	R-HSA-881907	4.26	2	EDNRB, EDN3
Peptide ligand-binding receptors	R-HSA-375276	5.41	2	EDNRB, EDN3
G alpha (q) signalling events	R-HSA-416476	5.42	2	EDNRB, EDN3
GPCR ligand binding	R-HSA-500792	4.19	2	EDNRB, EDN3
Signal Transduction	R-HSA-162582	1.78	2	EDNRB, EDN3

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
G alpha (q) signalling events (R-HSA-416476)	-	5.42	0.047	EDN3, EDNRB
Peptide ligand-binding receptors (R-HSA-375276)	-	5.41	0.048	EDN3, EDNRB

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	7	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
protein binding (GO:0005515)	0.46	7	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
sequence-specific DNA binding (GO:0043565)	2.79	4	PAX3, SNAI2, SOX10, MITF
transcription factor activity, sequence-specific DNA binding (GO:0003700)	2.65	4	PAX3, SNAI2, SOX10, MITF
organic cyclic compound binding (GO:0097159)	1.05	4	PAX3, SNAI2, MITF, SOX10
nucleic acid binding transcription factor activity (GO:0001071)	2.65	4	PAX3, SNAI2, SOX10, MITF
nucleic acid binding (GO:0003676)	1.44	4	PAX3, SNAI2, MITF, SOX10
DNA binding (GO:0003677)	1.92	4	PAX3, SNAI2, MITF, SOX10
heterocyclic compound binding (GO:1901363)	1.06	4	PAX3, SNAI2, MITF, SOX10
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981)	3.29	3	SNAI2, SOX10, MITF
RNA polymerase II regulatory region DNA binding (GO:0001012)	3.36	2	SOX10, MITF
core promoter proximal region DNA binding (GO:0001159)	3.82	2	MITF, SOX10
macromolecular complex binding (GO:0044877)	2.61	2	SNAI2, SOX10
G-protein coupled receptor binding (GO:0001664)	4.18	2	EDN3, EDNRB
cation binding (GO:0043169)	1.4	2	SNAI2, TYR
sequence-specific double-stranded DNA binding (GO:1990837)	3.2	2	SOX10, MITF
protein dimerization activity (GO:0046983)	2.72	2	TYR, MITF
ion binding (GO:0043167)	1.36	2	SNAI2, TYR
core promoter proximal region sequence-specific DNA binding (GO:0000987)	3.83	2	SOX10, MITF
double-stranded DNA binding (GO:0003690)	3.09	2	MITF, SOX10
metal ion binding (GO:0046872)	1.41	2	SNAI2, TYR
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0000982)	3.94	2	SNAI2, MITF
identical protein binding (GO:0042802)	2.63	2	TYR, SOX10
regulatory region nucleic acid binding (GO:0001067)	3.03	2	MITF, SOX10
receptor binding (GO:0005102)	2.43	2	EDN3, EDNRB
transcription regulatory region DNA binding (GO:0044212)	3.03	2	MITF, SOX10
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding (GO:0001227)	4.61	2	SNAI2, MITF
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding (GO:0003705)	5.23	2	SNAI2, SOX10
transcription regulatory region sequence-specific DNA binding (GO:0000976)	3.24	2	MITF, SOX10
RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	3.37	2	MITF, SOX10
regulatory region DNA binding (GO:0000975)	3.03	2	SOX10, MITF
RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	3.88	2	MITF, SOX10
chromatin binding (GO:0003682)	3.64	2	SNAI2, SOX10

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
RNA polymerase II regulatory region DNA binding (GO:0001012)	-	3.36	0.024	PAX3, EDNRB, SOX10, MITF
core promoter proximal region DNA binding (GO:0001159)	-	3.82	0.004	PAX3, EDNRB, MITF, SOX10
enhancer sequence-specific DNA binding (GO:0001158)	NEW	5.36	0.004	EDNRB, PAX3, SOX10
nucleic acid binding transcription factor activity (GO:0001071)	-	2.65	0.034	PAX3, SNAI2, SOX10, MITF
sequence-specific DNA binding (GO:0043565)	-	2.79	0.008	SNAI2, EDNRB, PAX3, SOX10, MITF
transcription corepressor activity (GO:0003714)	NEW	4.33	0.008	PAX3, SNAI2, MITF, SOX10
core promoter proximal region sequence-specific DNA binding (GO:0000987)	-	3.83	0.004	PAX3, EDNRB, SOX10, MITF
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)	-	3.94	0.0	PAX3, SNAI2, EDNRB, MITF, SOX10
sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	-	3.29	0.003	SNAI2, EDNRB, PAX3, SOX10, MITF
RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	NEW	5.58	0.002	EDNRB, PAX3, SOX10
regulatory region nucleic acid binding (GO:0001067)	-	3.03	0.008	MITF, SNAI2, PAX3, EDNRB, SOX10
DNA binding, bending (GO:0008301)	NEW	6.74	0.018	PAX3, SOX10
protein domain specific binding (GO:0019904)	NEW	3.32	0.046	SNAI2, EDNRB, PAX3, SOX10, MITF
HMG box domain binding (GO:0071837)	NEW	6.85	0.012	PAX3, SOX10
transcription regulatory region DNA binding (GO:0044212)	-	3.03	0.007	MITF, SNAI2, PAX3, EDNRB, SOX10
RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	-	4.61	0.014	SNAI2, PAX3, SOX10
sequence-specific DNA binding transcription factor activity (GO:0003700)	-	2.65	0.034	PAX3, SNAI2, SOX10, MITF
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	-	5.23	0.0	MITF, SNAI2, PAX3, EDNRB, SOX10
transcription regulatory region sequence-specific DNA binding (GO:0000976)	-	3.24	0.04	PAX3, EDNRB, MITF, SOX10
RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	-	3.37	0.024	PAX3, EDNRB, MITF, SOX10
regulatory region DNA binding (GO:0000975)	-	3.03	0.008	SNAI2, EDNRB, PAX3, SOX10, MITF
RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	-	3.88	0.003	PAX3, EDNRB, MITF, SOX10
chromatin binding (GO:0003682)	-	3.64	0.001	PAX3, SNAI2, SOX10, MITF
enhancer binding (GO:0035326)	NEW	5.21	0.008	EDNRB, PAX3, SOX10

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
developmental process (GO:0032502)	1.36	7	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
multicellular organismal process (GO:0032501)	1.45	7	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
cellular process (GO:0009987)	0.26	7	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
single-organism developmental process (GO:0044767)	1.49	7	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
single-organism cellular process (GO:0044763)	0.65	7	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
single-organism process (GO:0044699)	0.48	7	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
anatomical structure development (GO:0048856)	1.58	7	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
single-multicellular organism process (GO:0044707)	1.78	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
positive regulation of metabolic process (GO:0009893)	1.74	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
regulation of metabolic process (GO:0019222)	1.02	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
regulation of macromolecule metabolic process (GO:0060255)	1.08	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
cellular developmental process (GO:0048869)	1.82	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
positive regulation of cellular metabolic process (GO:0031325)	1.81	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
regulation of primary metabolic process (GO:0080090)	1.08	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
positive regulation of macromolecule metabolic process (GO:0010604)	1.81	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
regulation of cellular process (GO:0050794)	0.5	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
regulation of cellular metabolic process (GO:0031323)	1.07	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
biological regulation (GO:0065007)	0.39	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
positive regulation of biological process (GO:0048518)	1.2	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
regulation of gene expression (GO:0010468)	1.37	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
regulation of biological process (GO:0050789)	0.45	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
positive regulation of cellular process (GO:0048522)	1.3	6	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
metabolic process (GO:0008152)	0.58	5	TYR, SNAI2, PAX3, SOX10, MITF
regulation of cellular biosynthetic process (GO:0031326)	1.38	5	SNAI2, EDNRB, PAX3, SOX10, MITF
cell differentiation (GO:0030154)	2.14	5	SNAI2, EDN3, EDNRB, MITF, SOX10
movement of cell or subcellular component (GO:0006928)	2.61	5	SNAI2, EDN3, EDNRB, MITF, SOX10
cellular biosynthetic process (GO:0044249)	1.37	5	PAX3, SNAI2, TYR, MITF, SOX10
nitrogen compound metabolic process (GO:0006807)	1.13	5	TYR, SNAI2, PAX3, SOX10, MITF
organic cyclic compound biosynthetic process (GO:1901362)	1.66	5	PAX3, SNAI2, TYR, SOX10, MITF
multicellular organism development (GO:0007275)	2.54	5	SNAI2, EDN3, PAX3, SOX10, MITF
organic cyclic compound metabolic process (GO:1901360)	1.26	5	TYR, SNAI2, PAX3, SOX10, MITF
organic substance biosynthetic process (GO:1901576)	1.34	5	PAX3, SNAI2, TYR, SOX10, MITF
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	5	SNAI2, EDNRB, PAX3, MITF, SOX10
organic substance metabolic process (GO:0071704)	0.63	5	TYR, SNAI2, PAX3, SOX10, MITF
regulation of transcription from RNA polymerase II promoter (GO:0006357)	2.24	5	SNAI2, EDNRB, PAX3, SOX10, MITF
cell migration (GO:0016477)	3.12	5	SNAI2, EDN3, EDNRB, MITF, SOX10
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	5	SNAI2, EDNRB, PAX3, MITF, SOX10
cellular aromatic compound metabolic process (GO:0006725)	1.3	5	PAX3, SNAI2, TYR, SOX10, MITF
regulation of biosynthetic process (GO:0009889)	1.37	5	PAX3, SNAI2, EDNRB, MITF, SOX10
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	5	MITF, SNAI2, PAX3, EDNRB, SOX10
biosynthetic process (GO:0009058)	1.32	5	TYR, SNAI2, PAX3, MITF, SOX10
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	5	SNAI2, EDNRB, PAX3, MITF, SOX10
regulation of multicellular organismal process (GO:0051239)	1.87	5	EDNRB, SNAI2, EDN3, MITF, SOX10
regulation of RNA biosynthetic process (GO:2001141)	1.55	5	SNAI2, EDNRB, PAX3, SOX10, MITF
system process (GO:0003008)	2.3	5	EDNRB, SNAI2, TYR, EDN3, PAX3
locomotion (GO:0040011)	2.91	5	MITF, SNAI2, EDN3, EDNRB, SOX10
cell motility (GO:0048870)	3.02	5	SNAI2, EDNRB, EDN3, MITF, SOX10
regulation of RNA metabolic process (GO:0051252)	1.52	5	SNAI2, EDNRB, PAX3, MITF, SOX10
regulation of cell differentiation (GO:0045595)	2.42	5	SNAI2, EDN3, EDNRB, SOX10, MITF
cellular metabolic process (GO:0044237)	0.69	5	PAX3, SNAI2, TYR, SOX10, MITF
regulation of transcription, DNA-templated (GO:0006355)	1.56	5	PAX3, SNAI2, EDNRB, MITF, SOX10
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	5	SNAI2, EDNRB, PAX3, MITF, SOX10
aromatic compound biosynthetic process (GO:0019438)	1.7	5	TYR, SNAI2, PAX3, MITF, SOX10
negative regulation of metabolic process (GO:0009892)	1.93	4	SNAI2, EDNRB, MITF, SOX10
RNA biosynthetic process (GO:0032774)	1.84	4	PAX3, SNAI2, SOX10, MITF
negative regulation of biosynthetic process (GO:0009890)	2.47	4	SNAI2, EDNRB, MITF, SOX10
negative regulation of cellular biosynthetic process (GO:0031327)	2.49	4	SNAI2, EDNRB, SOX10, MITF
negative regulation of cellular metabolic process (GO:0031324)	2.01	4	SNAI2, EDNRB, SOX10, MITF
regulation of response to stimulus (GO:0048583)	1.54	4	SNAI2, EDN3, EDNRB, SOX10
nucleic acid metabolic process (GO:0090304)	1.46	4	PAX3, SNAI2, MITF, SOX10
negative regulation of gene expression (GO:0010629)	2.48	4	SNAI2, EDNRB, MITF, SOX10
cellular macromolecule biosynthetic process (GO:0034645)	1.66	4	PAX3, SNAI2, SOX10, MITF
regulation of cell death (GO:0010941)	2.43	4	SNAI2, EDNRB, MITF, SOX10
regulation of apoptotic process (GO:0042981)	2.5	4	SNAI2, EDNRB, MITF, SOX10
nucleic acid-templated transcription (GO:0097659)	1.91	4	PAX3, SNAI2, SOX10, MITF
negative regulation of nucleobase-containing compound metabolic process (GO:0045934)	2.55	4	SNAI2, EDNRB, MITF, SOX10
nucleobase-containing compound metabolic process (GO:0006139)	1.35	4	PAX3, SNAI2, MITF, SOX10
negative regulation of macromolecule metabolic process (GO:0010605)	2.01	4	SNAI2, EDNRB, SOX10, MITF
cellular macromolecule metabolic process (GO:0044260)	0.93	4	PAX3, SNAI2, SOX10, MITF
negative regulation of cellular macromolecule biosynthetic process (GO:2000113)	2.6	4	MITF, SNAI2, EDNRB, SOX10
regulation of programmed cell death (GO:0043067)	2.49	4	SNAI2, EDNRB, MITF, SOX10
negative regulation of biological process (GO:0048519)	1.33	4	SNAI2, EDNRB, MITF, SOX10
heterocycle biosynthetic process (GO:0018130)	1.7	4	PAX3, SNAI2, MITF, SOX10
regulation of cell proliferation (GO:0042127)	2.41	4	EDNRB, SNAI2, EDN3, SOX10
melanocyte differentiation (GO:0030318)	6.73	4	EDNRB, EDN3, MITF, SOX10
primary metabolic process (GO:0044238)	0.69	4	PAX3, SNAI2, SOX10, MITF
regulation of developmental process (GO:0050793)	2.1	4	SNAI2, EDNRB, MITF, SOX10
neurological system process (GO:0050877)	2.64	4	TYR, SNAI2, EDNRB, PAX3
pigment cell differentiation (GO:0050931)	6.64	4	EDNRB, EDN3, MITF, SOX10
sensory perception (GO:0007600)	2.93	4	TYR, SNAI2, EDNRB, PAX3
negative regulation of nucleic acid-templated transcription (GO:1903507)	2.71	4	SNAI2, EDNRB, MITF, SOX10
negative regulation of RNA biosynthetic process (GO:1902679)	2.7	4	SNAI2, EDNRB, MITF, SOX10
macromolecule biosynthetic process (GO:0009059)	1.61	4	PAX3, SNAI2, SOX10, MITF
negative regulation of transcription, DNA-templated (GO:0045892)	2.75	4	SNAI2, EDNRB, MITF, SOX10
negative regulation of nitrogen compound metabolic process (GO:0051172)	2.47	4	SNAI2, EDNRB, MITF, SOX10
nucleobase-containing compound biosynthetic process (GO:0034654)	1.72	4	PAX3, SNAI2, SOX10, MITF
heterocycle metabolic process (GO:0046483)	1.31	4	PAX3, SNAI2, MITF, SOX10
RNA metabolic process (GO:0016070)	1.59	4	PAX3, SNAI2, MITF, SOX10
pigmentation (GO:0043473)	5.9	4	TYR, SNAI2, EDNRB, MITF
cellular nitrogen compound biosynthetic process (GO:0044271)	1.59	4	PAX3, SNAI2, SOX10, MITF
negative regulation of RNA metabolic process (GO:0051253)	2.66	4	EDNRB, SNAI2, MITF, SOX10
cellular nitrogen compound metabolic process (GO:0034641)	1.22	4	PAX3, SNAI2, SOX10, MITF
macromolecule metabolic process (GO:0043170)	0.83	4	PAX3, SNAI2, MITF, SOX10
regulation of multicellular organismal development (GO:2000026)	2.31	4	EDNRB, SNAI2, MITF, SOX10
transcription, DNA-templated (GO:0006351)	1.91	4	PAX3, SNAI2, SOX10, MITF
negative regulation of macromolecule biosynthetic process (GO:0010558)	2.53	4	SNAI2, EDNRB, MITF, SOX10
negative regulation of cellular process (GO:0048523)	1.41	4	SNAI2, EDNRB, MITF, SOX10
positive regulation of nucleic acid-templated transcription (GO:1903508)	2.56	3	PAX3, SOX10, MITF
positive regulation of biosynthetic process (GO:0009891)	2.29	3	PAX3, MITF, SOX10
regulation of transport (GO:0051049)	2.24	3	SNAI2, EDN3, EDNRB
regulation of cellular component organization (GO:0051128)	2.01	3	SNAI2, EDN3, MITF
leukocyte migration (GO:0050900)	4.19	3	EDN3, EDNRB, MITF
positive regulation of gene expression (GO:0010628)	2.35	3	PAX3, SOX10, MITF
positive regulation of cellular biosynthetic process (GO:0031328)	2.3	3	PAX3, SOX10, MITF
signal transduction (GO:0007165)	1.28	3	SNAI2, EDN3, EDNRB
cell surface receptor signaling pathway (GO:0007166)	2.09	3	SNAI2, EDN3, EDNRB
regulation of signaling (GO:0023051)	1.72	3	SNAI2, EDN3, SOX10
ameboidal-type cell migration (GO:0001667)	4.71	3	EDN3, EDNRB, SOX10
regulation of cell communication (GO:0010646)	1.73	3	SNAI2, EDN3, SOX10
cellular component organization or biogenesis (GO:0071840)	1.22	3	SNAI2, PAX3, MITF
immune system process (GO:0002376)	2.29	3	EDNRB, EDN3, MITF
anatomical structure morphogenesis (GO:0009653)	2.53	3	SNAI2, PAX3, SOX10
negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	3.12	3	SNAI2, EDNRB, MITF
regulation of signal transduction (GO:0009966)	1.84	3	SNAI2, EDN3, SOX10
positive regulation of multicellular organismal process (GO:0051240)	2.49	3	EDN3, EDNRB, SOX10
regulation of response to external stimulus (GO:0032101)	3.06	3	SNAI2, EDN3, EDNRB
regulation of protein metabolic process (GO:0051246)	1.93	3	SNAI2, EDN3, EDNRB
positive regulation of protein metabolic process (GO:0051247)	2.43	3	SNAI2, EDN3, EDNRB
cellular component organization (GO:0016043)	1.24	3	SNAI2, PAX3, MITF
negative regulation of apoptotic process (GO:0043066)	3.04	3	SNAI2, EDNRB, SOX10
positive regulation of cellular protein metabolic process (GO:0032270)	2.49	3	SNAI2, EDN3, EDNRB
transcription from RNA polymerase II promoter (GO:0006366)	3.38	3	PAX3, SOX10, MITF
negative regulation of programmed cell death (GO:0043069)	3.02	3	SNAI2, EDNRB, SOX10
positive regulation of cell proliferation (GO:0008284)	3.01	3	EDNRB, EDN3, SOX10
positive regulation of nucleobase-containing compound metabolic process (GO:0045935)	2.35	3	PAX3, MITF, SOX10
negative regulation of cell death (GO:0060548)	2.95	3	SNAI2, EDNRB, SOX10
regulation of protein modification process (GO:0031399)	2.32	3	SNAI2, EDN3, EDNRB
positive regulation of cell differentiation (GO:0045597)	3.01	3	SNAI2, EDN3, SOX10
positive regulation of transcription, DNA-templated (GO:0045893)	2.56	3	PAX3, MITF, SOX10
positive regulation of nitrogen compound metabolic process (GO:0051173)	2.29	3	PAX3, SOX10, MITF
neural crest cell migration (GO:0001755)	5.76	3	EDNRB, EDN3, SOX10
response to chemical (GO:0042221)	1.98	3	TYR, SNAI2, EDNRB
regulation of localization (GO:0032879)	1.94	3	SNAI2, EDN3, EDNRB
response to organic substance (GO:0010033)	2.2	3	TYR, SNAI2, EDNRB
animal organ development (GO:0048513)	2.53	3	TYR, PAX3, SOX10
regulation of cellular protein metabolic process (GO:0032268)	1.99	3	SNAI2, EDN3, EDNRB
myeloid leukocyte migration (GO:0097529)	5.13	3	EDNRB, EDN3, MITF
response to stimulus (GO:0050896)	1.22	3	TYR, SNAI2, EDNRB
positive regulation of protein modification process (GO:0031401)	2.7	3	SNAI2, EDN3, EDNRB
positive regulation of RNA metabolic process (GO:0051254)	2.51	3	PAX3, MITF, SOX10
positive regulation of RNA biosynthetic process (GO:1902680)	2.54	3	PAX3, SOX10, MITF
positive regulation of macromolecule biosynthetic process (GO:0010557)	2.39	3	PAX3, MITF, SOX10
positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	2.81	3	PAX3, MITF, SOX10
system development (GO:0048731)	2.92	3	EDNRB, PAX3, SOX10
positive regulation of cellular component organization (GO:0051130)	2.68	3	SNAI2, EDN3, MITF
response to abiotic stimulus (GO:0009628)	2.8	2	SNAI2, TYR
regulation of phosphate metabolic process (GO:0019220)	2.35	2	EDN3, EDNRB
regulation of secretion (GO:0051046)	3.2	2	EDNRB, EDN3
positive regulation of secretion (GO:0051047)	3.85	2	EDNRB, EDN3
negative regulation of response to stimulus (GO:0048585)	2.52	2	SNAI2, SOX10
muscle system process (GO:0003012)	4.18	2	EDN3, EDNRB
circulatory system process (GO:0003013)	4.38	2	EDN3, EDNRB
calcium ion homeostasis (GO:0055074)	3.97	2	EDN3, EDNRB
cell chemotaxis (GO:0060326)	4.63	2	EDN3, EDNRB
vascular process in circulatory system (GO:0003018)	4.65	2	EDNRB, EDN3
cellular response to stimulus (GO:0051716)	1.97	2	SNAI2, EDNRB
negative regulation of signal transduction (GO:0009968)	2.75	2	SNAI2, SOX10
vascular smooth muscle contraction (GO:0014829)	7.16	2	EDNRB, EDN3
leukocyte chemotaxis (GO:0030595)	4.96	2	EDNRB, EDN3
chemotaxis (GO:0006935)	4.04	2	EDNRB, EDN3
muscle contraction (GO:0006936)	4.37	2	EDNRB, EDN3
positive regulation of transport (GO:0051050)	2.9	2	EDN3, EDNRB
phasic smooth muscle contraction (GO:0014821)	6.96	2	EDNRB, EDN3
smooth muscle contraction (GO:0006939)	5.9	2	EDN3, EDNRB
vein smooth muscle contraction (GO:0014826)	8.34	2	EDN3, EDNRB
regulation of phosphorylation (GO:0042325)	2.5	2	EDNRB, EDN3
positive regulation of phosphorylation (GO:0042327)	2.9	2	EDNRB, EDN3
response to external stimulus (GO:0009605)	2.55	2	EDNRB, TYR
positive regulation of organelle organization (GO:0010638)	3.38	2	SNAI2, EDN3
regulation of Wnt signaling pathway (GO:0030111)	3.98	2	SNAI2, SOX10
chemical homeostasis (GO:0048878)	2.97	2	EDNRB, EDN3
regulation of canonical Wnt signaling pathway (GO:0060828)	4.26	2	SNAI2, SOX10
inorganic ion homeostasis (GO:0098771)	3.43	2	EDNRB, EDN3
enteric nervous system development (GO:0048484)	7.33	2	EDNRB, SOX10
second-messenger-mediated signaling (GO:0019932)	4.65	2	EDN3, EDNRB
vasoconstriction (GO:0042310)	6.36	2	EDNRB, EDN3
intracellular signal transduction (GO:0035556)	2.39	2	EDNRB, EDN3
negative regulation of Wnt signaling pathway (GO:0030178)	4.44	2	SNAI2, SOX10
cell morphogenesis involved in differentiation (GO:0000904)	4.67	2	SNAI2, PAX3
cell morphogenesis (GO:0000902)	4.35	2	SNAI2, PAX3
regulation of anatomical structure size (GO:0090066)	3.78	2	EDNRB, EDN3
regulation of immune system process (GO:0002682)	2.5	2	EDN3, MITF
regulation of molecular function (GO:0065009)	1.78	2	EDN3, EDNRB
regulation of biological quality (GO:0065008)	1.68	2	EDNRB, EDN3
regulation of tube size (GO:0035150)	4.79	2	EDNRB, EDN3
organ morphogenesis (GO:0009887)	3.55	2	SNAI2, PAX3
regulation of catalytic activity (GO:0050790)	1.97	2	EDN3, EDNRB
divalent inorganic cation homeostasis (GO:0072507)	3.9	2	EDNRB, EDN3
sensory perception of mechanical stimulus (GO:0050954)	4.79	2	SNAI2, PAX3
transport (GO:0006810)	1.51	2	EDNRB, EDN3
regulation of intracellular signal transduction (GO:1902531)	2.31	2	SNAI2, EDN3
taxis (GO:0042330)	4.03	2	EDNRB, EDN3
peripheral nervous system development (GO:0007422)	6.47	2	EDNRB, SOX10
regulation of response to stress (GO:0080134)	2.53	2	SNAI2, EDNRB
regulation of nervous system development (GO:0051960)	3.1	2	EDNRB, SOX10
regulation of cell motility (GO:2000145)	3.16	2	SNAI2, EDN3
positive regulation of cell motility (GO:2000147)	3.74	2	SNAI2, EDN3
regulation of organelle organization (GO:0033043)	2.72	2	SNAI2, EDN3
response to radiation (GO:0009314)	3.69	2	SNAI2, TYR
ion homeostasis (GO:0050801)	3.42	2	EDN3, EDNRB
negative regulation of signaling (GO:0023057)	2.65	2	SNAI2, SOX10
negative regulation of cell communication (GO:0010648)	2.66	2	SNAI2, SOX10
cellular response to chemical stimulus (GO:0070887)	2.57	2	SNAI2, EDNRB
response to organic cyclic compound (GO:0014070)	3.07	2	EDNRB, TYR
response to endogenous stimulus (GO:0009719)	2.79	2	SNAI2, TYR
regulation of neurogenesis (GO:0050767)	3.21	2	EDNRB, SOX10
regulation of blood vessel size (GO:0050880)	4.8	2	EDN3, EDNRB
cellular divalent inorganic cation homeostasis (GO:0072503)	3.96	2	EDN3, EDNRB
regulation of system process (GO:0044057)	3.53	2	EDN3, EDNRB
positive regulation of phosphorus metabolic process (GO:0010562)	2.78	2	EDN3, EDNRB
negative regulation of multicellular organismal process (GO:0051241)	2.84	2	SNAI2, EDNRB
regulation of cell development (GO:0060284)	3.01	2	EDNRB, SOX10
regulation of stem cell proliferation (GO:0072091)	5.6	2	SNAI2, SOX10
positive regulation of cellular component movement (GO:0051272)	3.71	2	SNAI2, EDN3
cellular metal ion homeostasis (GO:0006875)	3.75	2	EDN3, EDNRB
cellular calcium ion homeostasis (GO:0006874)	4.01	2	EDNRB, EDN3
cellular ion homeostasis (GO:0006873)	3.57	2	EDNRB, EDN3
negative regulation of cell differentiation (GO:0045596)	3.33	2	SNAI2, EDNRB
regulation of locomotion (GO:0040012)	3.12	2	SNAI2, EDN3
cellular cation homeostasis (GO:0030003)	3.6	2	EDNRB, EDN3
cation homeostasis (GO:0055080)	3.46	2	EDNRB, EDN3
cellular chemical homeostasis (GO:0055082)	3.4	2	EDNRB, EDN3
negative regulation of developmental process (GO:0051093)	3.17	2	SNAI2, EDNRB
regulation of epithelial cell proliferation (GO:0050678)	4.06	2	SNAI2, EDNRB
nervous system development (GO:0007399)	3.53	2	EDNRB, PAX3
gland development (GO:0048732)	4.15	2	TYR, SOX10
cellular homeostasis (GO:0019725)	3.23	2	EDNRB, EDN3
homeostatic process (GO:0042592)	2.61	2	EDNRB, EDN3
regulation of blood pressure (GO:0008217)	4.72	2	EDN3, EDNRB
response to lipid (GO:0033993)	3.11	2	EDNRB, TYR
cellular component morphogenesis (GO:0032989)	3.5	2	SNAI2, PAX3
sensory perception of sound (GO:0007605)	4.82	2	SNAI2, PAX3
cellular response to organic substance (GO:0071310)	2.78	2	SNAI2, EDNRB
tissue morphogenesis (GO:0048729)	3.87	2	SNAI2, SOX10
negative regulation of canonical Wnt signaling pathway (GO:0090090)	4.63	2	SNAI2, SOX10
positive regulation of cell migration (GO:0030335)	3.77	2	SNAI2, EDN3
regulation of cell migration (GO:0030334)	3.23	2	SNAI2, EDN3
positive regulation of phosphate metabolic process (GO:0045937)	2.78	2	EDNRB, EDN3
regulation of phosphorus metabolic process (GO:0051174)	2.35	2	EDN3, EDNRB
single-organism transport (GO:0044765)	2.18	2	EDNRB, EDN3
metal ion homeostasis (GO:0055065)	3.61	2	EDNRB, EDN3
localization (GO:0051179)	1.4	2	EDNRB, EDN3
single-organism localization (GO:1902578)	2.09	2	EDNRB, EDN3
response to oxygen-containing compound (GO:1901700)	2.57	2	EDNRB, TYR
establishment of localization (GO:0051234)	1.48	2	EDNRB, EDN3
regulation of cellular component movement (GO:0051270)	3.08	2	SNAI2, EDN3
positive regulation of locomotion (GO:0040017)	3.71	2	SNAI2, EDN3
epithelial to mesenchymal transition (GO:0001837)	5.76	2	SNAI2, PAX3
regulation of cellular component biogenesis (GO:0044087)	3.08	2	SNAI2, MITF
regulation of protein phosphorylation (GO:0001932)	2.57	2	EDNRB, EDN3
positive regulation of protein phosphorylation (GO:0001934)	2.95	2	EDN3, EDNRB

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
negative regulation of apoptotic signaling pathway (GO:2001234)	NEW	4.42	0.039	PAX3, SNAI2, EDNRB, SOX10
developmental process (GO:0032502)	-	1.36	0.032	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
anatomical structure development (GO:0048856)	-	1.58	0.035	TYR, EDNRB, PAX3, SNAI2, MITF, SOX10
positive regulation of metabolic process (GO:0009893)	-	1.74	0.021	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
negative regulation of biosynthetic process (GO:0009890)	-	2.47	0.012	SNAI2, EDNRB, PAX3, SOX10, MITF
regulation of response to external stimulus (GO:0032101)	-	3.06	0.014	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
negative regulation of cellular biosynthetic process (GO:0031327)	-	2.49	0.011	PAX3, SNAI2, EDNRB, MITF, SOX10
positive regulation of cellular metabolic process (GO:0031325)	-	1.81	0.015	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
cell differentiation (GO:0030154)	-	2.14	0.002	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
regulation of embryonic development (GO:0045995)	NEW	4.98	0.003	PAX3, EDNRB, SOX10, MITF
transcription from RNA polymerase II promoter (GO:0006366)	-	3.38	0.009	PAX3, SNAI2, SOX10, MITF
developmental pigmentation (GO:0048066)	NEW	6.96	0.035	PAX3, MITF
palate development (GO:0060021)	NEW	5.38	0.001	PAX3, SNAI2, SOX10, MITF
regulation of cell proliferation (GO:0042127)	-	2.41	0.001	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
enteric nervous system development (GO:0048484)	-	7.33	0.049	EDNRB, SOX10
circulatory system process (GO:0003013)	-	4.38	0.011	PAX3, EDN3, EDNRB, MITF
glial cell differentiation (GO:0010001)	NEW	5.48	0.033	SNAI2, PAX3, SOX10
vasoconstriction (GO:0042310)	-	6.36	0.034	EDNRB, EDN3
single-organism developmental process (GO:0044767)	-	1.49	0.017	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
ameboidal cell migration (GO:0001667)	-	4.71	0.0	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
negative regulation of nucleobase-containing compound metabolic process (GO:0045934)	-	2.55	0.008	SNAI2, EDNRB, PAX3, SOX10, MITF
cell morphogenesis (GO:0000902)	-	4.35	0.002	MITF, SNAI2, PAX3, EDNRB, SOX10
pigment metabolic process (GO:0042440)	NEW	5.59	0.012	TYR, PAX3, MITF
positive regulation of macromolecule metabolic process (GO:0010604)	-	1.81	0.011	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
regulation of developmental process (GO:0050793)	-	2.1	0.003	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	-	3.12	0.026	PAX3, SNAI2, EDNRB, MITF
secondary metabolite biosynthetic process (GO:0044550)	NEW	6.73	0.0	TYR, PAX3, MITF
cellular developmental process (GO:0048869)	-	1.82	0.017	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
astrocyte differentiation (GO:0048708)	NEW	6.78	0.038	PAX3, SOX10
negative regulation of cellular macromolecule biosynthetic process (GO:2000113)	-	2.6	0.007	MITF, SNAI2, PAX3, EDNRB, SOX10
phenol-containing compound biosynthetic process (GO:0046189)	NEW	6.26	0.006	TYR, PAX3, MITF
spinal cord motor neuron migration (GO:0097476)	NEW	8.34	0.006	SNAI2, SOX10
motor neuron migration (GO:0097475)	NEW	8.34	0.006	SNAI2, SOX10
epithelial cell differentiation (GO:0030855)	NEW	3.98	0.013	EDNRB, EDN3, PAX3, MITF, SOX10
neuroepithelial cell differentiation (GO:0060563)	NEW	6.51	0.0	EDNRB, EDN3, PAX3, SOX10, MITF
cell migration (GO:0016477)	-	3.12	0.031	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
negative regulation of nitrogen compound metabolic process (GO:0051172)	-	2.47	0.009	SNAI2, EDNRB, PAX3, SOX10, MITF
columnar/cuboidal epithelial cell differentiation (GO:0002065)	NEW	5.84	0.0	PAX3, EDNRB, EDN3, SOX10, MITF
vascular smooth muscle contraction (GO:0014829)	-	7.16	0.049	EDNRB, EDN3
secondary metabolic process (GO:0019748)	NEW	5.88	0.008	TYR, PAX3, MITF
melanocyte differentiation (GO:0030318)	-	6.73	0.0	EDNRB, EDN3, PAX3, MITF, SOX10
phasic smooth muscle contraction (GO:0014821)	-	6.96	0.009	EDNRB, EDN3
pigment cell differentiation (GO:0050931)	-	6.64	0.0	PAX3, EDNRB, EDN3, MITF, SOX10
melanin metabolic process (GO:0006582)	NEW	7.09	0.0	TYR, PAX3, MITF
sensory perception (GO:0007600)	-	2.93	0.004	TYR, EDNRB, PAX3, SNAI2, MITF, SOX10
vein smooth muscle contraction (GO:0014826)	-	8.34	0.001	EDN3, EDNRB
negative regulation of RNA biosynthetic process (GO:1902679)	-	2.7	0.004	PAX3, SNAI2, EDNRB, MITF, SOX10
negative regulation of transcription, DNA-templated (GO:0045892)	-	2.75	0.004	PAX3, SNAI2, EDNRB, MITF, SOX10
melanin biosynthetic process (GO:0042438)	NEW	7.16	0.0	TYR, PAX3, MITF
regulation of multicellular organismal process (GO:0051239)	-	1.87	0.009	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
neural crest cell migration (GO:0001755)	-	5.76	0.0	PAX3, EDNRB, EDN3, SOX10, MITF
positive regulation of intracellular signal transduction (GO:1902533)	NEW	2.95	0.023	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
cellular component movement (GO:0006928)	-	2.61	0.02	PAX3, SNAI2, EDN3, EDNRB, SOX10
pigment biosynthetic process (GO:0046148)	NEW	5.86	0.005	TYR, PAX3, MITF
system process (GO:0003008)	-	2.3	0.01	EDNRB, SNAI2, TYR, EDN3, PAX3
locomotion (GO:0040011)	-	2.91	0.003	PAX3, SNAI2, EDN3, EDNRB, SOX10
pigmentation (GO:0043473)	-	5.9	0.006	SNAI2, PAX3, MITF
positive regulation of phosphorylation (GO:0042327)	-	2.9	0.045	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
cell motility (GO:0048870)	-	3.02	0.001	PAX3, SNAI2, EDN3, EDNRB, SOX10
positive regulation of embryonic development (GO:0040019)	NEW	6.2	0.042	PAX3, MITF
negative regulation of RNA metabolic process (GO:0051253)	-	2.66	0.005	EDNRB, SNAI2, PAX3, MITF, SOX10
regulation of cellular response to stress (GO:0080135)	NEW	3.4	0.04	EDNRB, SNAI2, PAX3, MITF, SOX10
negative regulation of gene expression (GO:0010629)	-	2.48	0.007	PAX3, SNAI2, EDNRB, MITF, SOX10
positive regulation of protein phosphorylation (GO:0001934)	-	2.95	0.022	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
regulation of transcription from RNA polymerase II promoter (GO:0006357)	-	2.24	0.043	PAX3, SNAI2, EDNRB, MITF, SOX10
regulation of multicellular organismal development (GO:2000026)	-	2.31	0.024	EDNRB, SNAI2, PAX3, MITF, SOX10
negative regulation of macromolecule biosynthetic process (GO:0010558)	-	2.53	0.009	SNAI2, EDNRB, PAX3, SOX10, MITF
regulation of canonical Wnt signaling pathway (GO:0060828)	-	4.26	0.022	PAX3, SNAI2, MITF, SOX10
peripheral nervous system development (GO:0007422)	-	6.47	0.031	EDNRB, SOX10

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
cell part (GO:0044464)	0.11	7	TYR, EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
intracellular organelle part (GO:0044446)	0.81	6	TYR, EDNRB, PAX3, SNAI2, MITF, SOX10
intracellular part (GO:0044424)	0.28	6	TYR, EDNRB, PAX3, SNAI2, MITF, SOX10
organelle part (GO:0044422)	0.79	6	TYR, EDNRB, PAX3, SNAI2, MITF, SOX10
intracellular membrane-bounded organelle (GO:0043231)	0.6	5	PAX3, SNAI2, TYR, MITF, SOX10
nucleus (GO:0005634)	1.07	5	TYR, SNAI2, PAX3, SOX10, MITF
intracellular organelle (GO:0043229)	0.51	5	TYR, SNAI2, PAX3, MITF, SOX10
nuclear part (GO:0044428)	1.55	5	MITF, SNAI2, PAX3, EDNRB, SOX10
membrane-bounded organelle (GO:0043227)	0.47	5	TYR, SNAI2, PAX3, MITF, SOX10
organelle (GO:0043226)	0.4	5	TYR, SNAI2, PAX3, MITF, SOX10
cytoplasm (GO:0005737)	1.01	3	SNAI2, TYR, SOX10
nucleoplasm (GO:0005654)	1.89	3	PAX3, MITF, SOX10
cytoplasmic part (GO:0044444)	0.82	3	EDNRB, TYR, SOX10
membrane part (GO:0044425)	0.95	3	EDNRB, TYR, SOX10
macromolecular complex (GO:0032991)	1.35	2	SNAI2, MITF
organelle membrane (GO:0031090)	1.97	2	EDNRB, TYR
cytosol (GO:0005829)	1.68	2	EDNRB, TYR
membrane (GO:0016020)	0.68	2	EDNRB, TYR
integral component of membrane (GO:0016021)	1.14	2	EDNRB, TYR
intrinsic component of membrane (GO:0031224)	1.13	2	EDNRB, TYR

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
protein-DNA complex (GO:0032993)	NEW	5.03	0.026	PAX3, MITF, SOX10
extracellular region (GO:0005576)	NEW	2.18	0.046	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
extracellular space (GO:0005615)	NEW	2.63	0.032	EDNRB, EDN3, PAX3, SNAI2, MITF, SOX10
melanosome membrane (GO:0033162)	NEW	7.61	0.0	TYR, PAX3, MITF