Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HIRSCHSPRUNG DISEASE	388 C0019569 MONDO:0018309 MESH:D006627 MONDO_0018309	ABCD1	Unknown	33151932	Disgenet, GWAS catalog, Orphanet	ABC transporters Peroxisome ABC transporters in lipid homeostasis +5 more
		ATP7A	Unknown	33151932	Disgenet, GWAS catalog, Orphanet	Platinum drug resistance Mineral absorption Ion influx/efflux at host-pathogen interface +1 more
		AXIN2	Unknown	—	Disgenet	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +15 more
		BMI1	Unknown	29429387	CTD, Disgenet	Polycomb repressive complex Signaling pathways regulating pluripotency of stem cells Transcriptional misregulation in cancer +9 more
		CARD14	Unknown	26887379	GWAS catalog	NF-kappa B signaling pathway
		CAVIN2	Unknown	25792468	CTD, Disgenet	—
		DDX51	Unknown	26887379	GWAS catalog	—
		DEFB128	Unknown	25310821	GWAS catalog	Beta defensins Defensins
		DEFB129	Unknown	25310821	GWAS catalog	Beta defensins Defensins
		DENND3	Unknown	—	Disgenet	RAB GEFs exchange GTP for GDP on RABs
		DEPDC1	Unknown	—	Disgenet	—
		DPPA5	Unknown	—	Disgenet	—
		DSCAM	Unknown	—	Disgenet	DSCAM interactions
		ECE1	Unknown	20301612 9915973	CTD, Disgenet, Orphanet	Peptide ligand-binding receptors
		EDN3	Unknown	20301612 8630502 8630503 8896568 9359047	CTD, Disgenet, Orphanet	cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction +3 more
		EDNRB	Unknown	20301612 8896568	CTD, Disgenet, Orphanet	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +5 more
		ERBB2	Unknown	33497358	ClinVar, Disgenet, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +48 more
		ERBB3	Unknown	33497358	Disgenet, Orphanet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +19 more
		FMN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		FXYD4	Unknown	29379196	GWAS catalog	Aldosterone-regulated sodium reabsorption Ion homeostasis Ion transport by P-type ATPases
		GDNF	Unknown	20301612 8896568 8968758	CTD, Disgenet, Orphanet	MAPK signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway +2 more
		GFRA1	Unknown	—	Disgenet	RAF/MAP kinase cascade RET signaling
		GSTM1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		GSTT1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		HNRNPF	Unknown	29379196	GWAS catalog	FGFR2 alternative splicing mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA +1 more
		IKBKB	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Ras signaling pathway +79 more
		IQCF5	Unknown	—	Disgenet	—
		MAN2A2	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		MED15	Unknown	—	Disgenet	PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation
		MGAM2	Unknown	—	Disgenet	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +1 more
		MYBPC3	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		NOTCH4	Unknown	—	Disgenet	Endocrine resistance Notch signaling pathway Thyroid hormone signaling pathway +11 more
		NRG1	Unknown	19196962 22974608 25310821 27702942	CTD, Disgenet, GWAS catalog	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Amyotrophic lateral sclerosis +18 more
		NRG3	Unknown	—	Disgenet	ErbB signaling pathway Amyotrophic lateral sclerosis Signaling by ERBB2 +15 more
		NRTN	Unknown	20301612	Disgenet, Orphanet	MAPK signaling pathway PI3K-Akt signaling pathway RAF/MAP kinase cascade +1 more
		NUP98	Unknown	—	Disgenet	Nucleocytoplasmic transport Amyotrophic lateral sclerosis Influenza A +33 more
		OAS3	Unknown	—	Disgenet	NOD-like receptor signaling pathway Hepatitis C Measles +7 more
		PACS1	Unknown	—	Disgenet	Nef mediated downregulation of MHC class I complex cell surface expression
		PCDH15	Unknown	—	Disgenet	—
		PHAX	Unknown	—	Disgenet	Nucleocytoplasmic transport snRNP Assembly RNA polymerase II transcribes snRNA genes
		PHOX2B	Unknown	27702942	Disgenet, GWAS catalog	—
		PHRF1	Unknown	—	Disgenet	—
		PIGO	Unknown	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways
		POLR2F	Unknown	—	Disgenet	RNA polymerase Nucleotide excision repair Cytosolic DNA-sensing pathway +34 more
		POR	Unknown	—	Disgenet	Cytochrome P450 - arranged by substrate type
		PROKR1	Unknown	21858136	Disgenet	Peptide ligand-binding receptors G alpha (q) signalling events
		RET	Unknown	19196962 25310821 27702942 29379196 30031151 31609069 8114938 8896568	CTD, Disgenet, GWAS catalog, Orphanet	MAPK signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway +6 more
		SEMA3C	Unknown	25839327	Disgenet, Orphanet	Axon guidance
		SEMA3D	Unknown	25839327	Disgenet, Orphanet	Axon guidance
		SHH	Unknown	—	Disgenet	Hedgehog signaling pathway Axon guidance Pathways in cancer +9 more
HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	613870 C3151237 MESH:C563939 MONDO:0013473	ECE1	Causal	—	CTD, ClinVar, Disgenet, HPO	Peptide ligand-binding receptors
HIRSCHSPRUNG DISEASE, GANGLIONEUROBLASTOMA SYNDROME	C5191058	PHOX2B	Unknown	—	Disgenet	—
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	MONDO:0007723	RET	Causal	11438491 142623 20473317 22174939 22648184 8401580	ClinVar, GWAS catalog	MAPK signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway +6 more
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2	MONDO:0010833	EDNRB	Causal	11891690 16237557 16618617 17965226 20127975 23840513 8001158 8634719	ClinVar, GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +5 more
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	MONDO:0013383	GDNF	Unknown	—	ClinVar	MAPK signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway +2 more
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4	MONDO:0013384	EDN3	Unknown	—	ClinVar, GenCC	cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction +3 more
HIRSCHSPRUNG DISEASE-GANGLIONEUROBLASTOMA SYNDROME	2151	PHOX2B	Causal	15024693 26011159 28371199	Orphanet	—

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Hirschsprung disease

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