Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	CFTR	Causal	11401894 11786964 16463024 16763370 1718974 17290305 17347447 17541014 18230692 19309154 19846789 21083385 21303308 21602569 31251792 7560099 22214395	CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet, ClinGen	ABC transporters cAMP signaling pathway AMPK signaling pathway +12 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	CLN6	Causal	—	Disgenet	—
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	SERPINA1	Causal	19738092	CTD, Disgenet, Orphanet	Complement and coagulation cascades Platelet degranulation COPII-mediated vesicle transport +4 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	ADRB2	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +13 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	AGER	Unknown	—	Disgenet	Efferocytosis Neutrophil extracellular trap formation AGE-RAGE signaling pathway in diabetic complications +7 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	AGTR2	Unknown	21602797 26417704	GWAS catalog	Neuroactive ligand-receptor interaction Hormone signaling Adrenergic signaling in cardiomyocytes +3 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	AHRR	Unknown	21602797	GWAS catalog	PPARA activates gene expression Phase I - Functionalization of compounds Endogenous sterols +2 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	APIP	Unknown	21602797 26417704	GWAS catalog	Cysteine and methionine metabolism Metabolic pathways Formation of apoptosome +1 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	CD14	Unknown	—	Disgenet	MAPK signaling pathway NF-kappa B signaling pathway Phagosome +29 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	CEACAM3	Unknown	20047061	Disgenet, GWAS catalog, Orphanet	Cell surface interactions at the vascular wall Neutrophil degranulation
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	CEACAM6	Unknown	20047061	Disgenet, GWAS catalog, Orphanet	Fibronectin matrix formation Cell surface interactions at the vascular wall Neutrophil degranulation
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	CLCA4	Unknown	23073314	Disgenet, GWAS catalog, Orphanet	Renin secretion Pancreatic secretion Stimuli-sensing channels
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	CYP1A1	Unknown	—	Disgenet	Steroid hormone biosynthesis Tryptophan metabolism Retinol metabolism +12 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	DCTN4	Unknown	22772370	CTD, Disgenet, Orphanet	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis +7 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	EDNRA	Unknown	20028935	Disgenet, GWAS catalog, Orphanet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +6 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	EHF	Unknown	21602797 26417704	GWAS catalog	—
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	ENG	Unknown	30806029	CTD, Disgenet	—
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	EPHX1	Unknown	—	Disgenet	Metabolism of xenobiotics by cytochrome P450 Bile secretion Chemical carcinogenesis - DNA adducts +3 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	FAS	Unknown	—	Disgenet	Platinum drug resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +36 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	FCGR2A	Unknown	—	CTD, ClinVar, Disgenet	Phagosome Osteoclast differentiation Platelet activation +14 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	GCLC	Unknown	16690975	Disgenet, GWAS catalog, Orphanet	Cysteine and methionine metabolism Glutathione metabolism Metabolic pathways +4 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	GSTM1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	GSTM3	Unknown	28289476	CTD, Disgenet, Orphanet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	GSTT1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	HFE	Unknown	30291871	Disgenet, Orphanet	TGF-beta signaling pathway Transferrin endocytosis and recycling
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	HMOX1	Unknown	28289476	Disgenet, GWAS catalog, Orphanet	Porphyrin metabolism Metabolic pathways HIF-1 signaling pathway +11 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	HSPA1A	Unknown	—	Disgenet	Spliceosome MAPK signaling pathway Protein processing in endoplasmic reticulum +16 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	IL1B	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +47 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	KCNN4	Unknown	29915289	Disgenet, GWAS catalog, Orphanet	Insulin secretion GnRH secretion Salivary secretion +2 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	LTA	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor NF-kappa B signaling pathway +7 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	MBL2	Unknown	—	Disgenet	Phagosome Complement and coagulation cascades Staphylococcus aureus infection +3 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	MIF	Unknown	16179637	CTD, Disgenet, Orphanet	Tyrosine metabolism Phenylalanine metabolism Metabolic pathways +3 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	MPO	Unknown	—	Disgenet	Drug metabolism - other enzymes Phagosome Neutrophil extracellular trap formation +4 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	MUC4	Unknown	26417704	GWAS catalog	Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) Defective GALNT12 causes colorectal cancer 1 (CRCS1) +3 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	NOS1	Unknown	—	Disgenet	Arginine biosynthesis Arginine and proline metabolism Metabolic pathways +18 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	NOS3	Unknown	—	Disgenet	Arginine biosynthesis Arginine and proline metabolism Metabolic pathways +24 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	PIK3CG	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways cGMP-PKG signaling pathway +15 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	PLG	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Complement and coagulation cascades Staphylococcus aureus infection +7 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	PTGS2	Unknown	—	Disgenet	Arachidonic acid metabolism Metabolic pathways NF-kappa B signaling pathway +29 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	PTX3	Unknown	—	Disgenet	Neutrophil degranulation
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	RAB7B	Unknown	23670970	GWAS catalog	Mitophagy - animal Autophagy - animal Phagosome +6 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	SCNN1A	Unknown	15077107 19462466	CTD, Disgenet	Taste transduction Aldosterone-regulated sodium reabsorption Stimuli-sensing channels
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	SCNN1B	Unknown	16207733 16463024	CTD, Disgenet	Taste transduction Aldosterone-regulated sodium reabsorption Stimuli-sensing channels
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	SCNN1G	Unknown	16463024	CTD, Disgenet	Taste transduction Aldosterone-regulated sodium reabsorption Stimuli-sensing channels
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	SERPINA3	Unknown	—	Disgenet	Platelet degranulation Neutrophil degranulation
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	SLC11A1	Unknown	28756021	Disgenet, GWAS catalog, Orphanet	Lysosome ROS and RNS production in phagocytes Metal ion SLC transporters +2 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	SLC26A9	Unknown	23670970 28756021	Disgenet, GWAS catalog, Orphanet	Mineral absorption Chemical carcinogenesis - reactive oxygen species Multifunctional anion exchangers
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	SLC6A14	Unknown	28756021	Disgenet, GWAS catalog, Orphanet	Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters Variant SLC6A14 may confer susceptibility towards obesity
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	SLC8A3	Unknown	21602797	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Cardiac muscle contraction +12 more
CYSTIC FIBROSIS	219700 586 C0010674 MESH:D003550 MONDO:0009061 MONDO_0009061	SLC9A3	Unknown	26417704 28756021	Disgenet, GWAS catalog, Orphanet	Proximal tubule bicarbonate reclamation Protein digestion and absorption Bile secretion +2 more
CYSTIC FIBROSIS ASSOCIATED MECONIUM ILEUS	EFO_0004608	RAB7B	Unknown	36206743	GWAS catalog	Mitophagy - animal Autophagy - animal Phagosome +6 more
CYSTIC FIBROSIS ASSOCIATED MECONIUM ILEUS	EFO_0004608	SLC26A9	Unknown	30807572 36206743	GWAS catalog	Mineral absorption Chemical carcinogenesis - reactive oxygen species Multifunctional anion exchangers
CYSTIC FIBROSIS ASSOCIATED MECONIUM ILEUS	EFO_0004608	SLC6A14	Unknown	30807572	GWAS catalog	Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters Variant SLC6A14 may confer susceptibility towards obesity
CYSTIC FIBROSIS, MODIFIER OF, 1	OMIM:603855	SLC26A9	Unknown	22466613	CTD	Mineral absorption Chemical carcinogenesis - reactive oxygen species Multifunctional anion exchangers
CYSTIC FIBROSIS, MODIFIER OF, 1	OMIM:603855	SLC6A14	Unknown	22466613	CTD	Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters Variant SLC6A14 may confer susceptibility towards obesity
CYSTIC FIBROSIS, MODIFIER OF, 1	OMIM:603855	SLC9A3	Unknown	22466613	CTD	Proximal tubule bicarbonate reclamation Protein digestion and absorption Bile secretion +2 more

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Cystic fibrosis

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