Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
WAARDENBURG SYNDROME	C3266898 MONDO:0018094 MESH:D014849	MITF	Causal	—	Disgenet, GenCC	Mitophagy - animal Osteoclast differentiation Melanogenesis +4 more
		PAX3	Causal	15729346 18553554 18983540 20095975 25932447 27759048 28043919 28381738 28686331 28690861 30314436 7897628	CTD, ClinGen, Disgenet	Transcriptional misregulation in cancer HATs acetylate histones
		SOX10	Causal	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		BDP1	Unknown	—	Disgenet	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter
		EDN3	Unknown	8630502	Disgenet, GenCC	cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction +3 more
		EDNRB	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +5 more
		KITLG	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +11 more
		MYO6	Unknown	—	Disgenet	Motor proteins Pathogenic Escherichia coli infection Salmonella infection +2 more
		POLR2F	Unknown	—	Disgenet	RNA polymerase Nucleotide excision repair Cytosolic DNA-sensing pathway +34 more
		SNAI2	Unknown	12444107	ClinGen, ClinVar, Disgenet	Hippo signaling pathway Adherens junction Regulation of PTEN gene transcription
		TMPRSS3	Unknown	—	Disgenet	—
WAARDENBURG SYNDROME TYPE 1	C1847800 894 MONDO:0008670	MITF	Causal	—	Disgenet	Mitophagy - animal Osteoclast differentiation Melanogenesis +4 more
		PAX3	Causal	1887852 7726174 1303193 8490648 20478267 1308353 1347148 8447316 1347149 8664898 14556253 7825605 7833953 7897628 7902163 8019556 8162027 8533800 8799378 9067759 9232624 9452070 9654197 20301703	ClinVar, Disgenet, Orphanet	Transcriptional misregulation in cancer HATs acetylate histones
		SOX10	Causal	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		EDN3	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction +3 more
		EDNRB	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +5 more
		KITLG	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +11 more
		POLR2F	Unknown	—	Disgenet	RNA polymerase Nucleotide excision repair Cytosolic DNA-sensing pathway +34 more
WAARDENBURG SYNDROME TYPE 2	895 C2700265 MESH:C536463 MONDO:0019517	MITF	Causal	23098757 23512835 23787126 27349893 27759048 28356565 7874167 7874168 8782819 9158138 9499424	CTD, ClinGen, Disgenet, HPO, Orphanet	Mitophagy - animal Osteoclast differentiation Melanogenesis +4 more
		EDNRB	Unknown	28236341	Disgenet, GWAS catalog, Orphanet	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +5 more
		KITLG	Unknown	26522471	Disgenet, GWAS catalog, Orphanet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +11 more
		SNAI2	Unknown	12444107	Disgenet, Orphanet	Hippo signaling pathway Adherens junction Regulation of PTEN gene transcription
		SOX10	Unknown	17999358 21898658	CTD, Disgenet, Orphanet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		TYR	Unknown	9158138	Disgenet, GWAS catalog, Orphanet	Tyrosine metabolism Metabolic pathways Melanogenesis +1 more
WAARDENBURG SYNDROME TYPE 2A	MESH:C536464 MONDO:0008671	MITF	Causal	9158138 8589691 7874167 9856573 8490648	CTD, ClinVar	Mitophagy - animal Osteoclast differentiation Melanogenesis +4 more
WAARDENBURG SYNDROME TYPE 2D	MONDO:0012144	SNAI2	Unknown	12444107 12955764 17905753	Disgenet	Hippo signaling pathway Adherens junction Regulation of PTEN gene transcription
WAARDENBURG SYNDROME TYPE 2E	MONDO:0012698	SOX10	Causal	8911608 21965087 17999358 18348267 19208381 20478267 18627047 23643381 9462749 10077527 18348274	ClinVar, GWAS catalog	EGR2 and SOX10-mediated initiation of Schwann cell myelination
WAARDENBURG SYNDROME TYPE 3	896 MONDO:0007862	PAX3	Causal	12949970 35607853 7726174 8447316 9302254	ClinVar, Disgenet, Orphanet	Transcriptional misregulation in cancer HATs acetylate histones
WAARDENBURG SYNDROME TYPE 4A	MONDO:0010192	EDNRB	Causal	8001158	ClinGen, ClinVar, GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +5 more
WAARDENBURG SYNDROME TYPE 4B	MONDO:0013201	EDN3	Causal	8630502	ClinGen, ClinVar, GWAS catalog	cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction +3 more
WAARDENBURG SYNDROME TYPE 4C	MONDO:0013202	SOX10	Causal	—	ClinGen, ClinVar, GenCC	EGR2 and SOX10-mediated initiation of Schwann cell myelination
WAARDENBURG SYNDROME, IIA 2F	MONDO:0030983	KITLG	Causal	26522471 28504826	ClinVar, GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +11 more
WAARDENBURG SYNDROME, TYPE 1	193500	PAX3	Unknown	—	HPO	Transcriptional misregulation in cancer HATs acetylate histones
WAARDENBURG SYNDROME, TYPE 2A	193510	MITF	Unknown	—	HPO	Mitophagy - animal Osteoclast differentiation Melanogenesis +4 more
WAARDENBURG SYNDROME, TYPE 2E	611584	SOX10	Unknown	—	HPO	EGR2 and SOX10-mediated initiation of Schwann cell myelination
WAARDENBURG SYNDROME, TYPE 2F	619947 C5677013	KITLG	Unknown	26522471	Disgenet, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +11 more
WAARDENBURG SYNDROME, TYPE 2F	619947 C5677013	MTFMT	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Metabolic pathways
WAARDENBURG SYNDROME, TYPE 3	148820	PAX3	Unknown	8533800 8447316	HPO, ClinGen	Transcriptional misregulation in cancer HATs acetylate histones
WAARDENBURG SYNDROME, TYPE 4	MESH:C536467	EDN3	Unknown	17516928 8630502 8630503	CTD	cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction +3 more
WAARDENBURG SYNDROME, TYPE 4A	C1848519 277580 OMIM:277580	EDN3	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction +3 more
		EDNRB	Unknown	25118007 28236341 31544051 33234331 8001158	CTD, Disgenet, HPO	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +5 more
		MITF	Unknown	—	Disgenet	Mitophagy - animal Osteoclast differentiation Melanogenesis +4 more
		POLR2F	Unknown	—	Disgenet	RNA polymerase Nucleotide excision repair Cytosolic DNA-sensing pathway +34 more
		SOX10	Unknown	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
WAARDENBURG SYNDROME, TYPE 4B	613265 C2750457 MESH:C567680	EDN3	Unknown	8630503 8630502 27370713 19764030 20583152 28543993	CTD, Disgenet, HPO	cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction +3 more
WAARDENBURG SYNDROME, TYPE 4C	C2750452 613266 MESH:C567679	POLR2F	Unknown	—	Disgenet	RNA polymerase Nucleotide excision repair Cytosolic DNA-sensing pathway +34 more
WAARDENBURG SYNDROME, TYPE 4C	C2750452 613266 MESH:C567679	SOX10	Unknown	—	CTD, Disgenet, HPO	EGR2 and SOX10-mediated initiation of Schwann cell myelination
WAARDENBURG SYNDROME, TYPE IIA	C1860339	MITF	Unknown	—	Disgenet	Mitophagy - animal Osteoclast differentiation Melanogenesis +4 more
		POLR2F	Unknown	—	Disgenet	RNA polymerase Nucleotide excision repair Cytosolic DNA-sensing pathway +34 more
		SOX10	Unknown	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
WAARDENBURG SYNDROME, TYPE IID	C1837203	SNAI2	Unknown	12444107	Disgenet, ClinGen	Hippo signaling pathway Adherens junction Regulation of PTEN gene transcription
WAARDENBURG SYNDROME, TYPE IIE	C2700405	MITF	Unknown	7874167 8490648 8589691 9158138 9856573	Disgenet	Mitophagy - animal Osteoclast differentiation Melanogenesis +4 more
		POLR2F	Unknown	—	Disgenet	RNA polymerase Nucleotide excision repair Cytosolic DNA-sensing pathway +34 more
		SOX10	Unknown	10077527 17999358 18348267 18348274 18627047 19208381 20478267 21965087 23643381 8911608 9462749	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination

Waardenburg syndrome

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