Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTERSTITIAL LUNG AND LIVER DISEASE	615486 OMIM:615486	MARS1	Unknown	—	CTD, HPO	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
INTERSTITIAL LUNG DISEASE	EFO_0004244 MONDO:0015925	AKAP13	Unknown	23583980	GWAS catalog	Parathyroid hormone synthesis, secretion and action Human cytomegalovirus infection NRAGE signals death through JNK +2 more
		ARL17B	Unknown	34594039	GWAS catalog	—
		ATP11A	Unknown	23583980	GWAS catalog	Efferocytosis Neutrophil degranulation Ion transport by P-type ATPases
		CRABP1	Unknown	32737115	GWAS catalog	RA biosynthesis pathway
		CSMD1	Unknown	23583980	GWAS catalog	—
		CTNNA3	Unknown	23583980	GWAS catalog	Hippo signaling pathway Adherens junction Leukocyte transendothelial migration +5 more
		CWH43	Unknown	32737115	GWAS catalog	—
		DEPTOR	Unknown	23583980	GWAS catalog	Autophagy - animal mTOR signaling pathway
		DPP9	Unknown	23583980	GWAS catalog	—
		DSP	Unknown	23583980 34594039	GWAS catalog	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		DUS2	Unknown	34594039	GWAS catalog	—
		DUSP23	Unknown	21787189	GWAS catalog	—
		EPAS1	Unknown	36382269	GWAS catalog	HIF-1 signaling pathway Pathways in cancer Renal cell carcinoma +6 more
		FAM13A	Unknown	23583980	GWAS catalog	Rho GTPase cycle
		FCRL6	Unknown	21787189	GWAS catalog	—
		GBE1	Unknown	36382269	GWAS catalog	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
		GJA5	Unknown	28500057	GWAS catalog	Gap junction assembly
		GRIN3A	Unknown	28500057	GWAS catalog	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +8 more
		HLA-DPA1	Unknown	38296975	GWAS catalog	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		HLA-DPB1	Unknown	38296975	GWAS catalog	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		HTR1A	Unknown	31339356	GWAS catalog	cAMP signaling pathway Neuroactive ligand-receptor interaction Serotonergic synapse +3 more
		HTR1E	Unknown	31339356	GWAS catalog	cAMP signaling pathway Neuroactive ligand-receptor interaction Serotonergic synapse +3 more
		IREB2	Unknown	32737115	GWAS catalog	Iron uptake and transport
		IVD	Unknown	23583980	GWAS catalog	Valine, leucine and isoleucine degradation Metabolic pathways Branched-chain amino acid catabolism
		LRRC34	Unknown	23583980	GWAS catalog	—
		MAPT	Unknown	23583980	GWAS catalog	MAPK signaling pathway Alzheimer disease Parkinson disease +2 more
		MUC2	Unknown	23583980	GWAS catalog	Amoebiasis Gastric cancer
		MUC5AC	Unknown	31339356 34594039	GWAS catalog	IL-17 signaling pathway Salivary secretion Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) +5 more
		MUC5B	Unknown	31339356 34594039	GWAS catalog, GenCC	IL-17 signaling pathway Salivary secretion Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) +5 more
		NAV1	Unknown	32737115	GWAS catalog	—
		NBEA	Unknown	38296975	GWAS catalog	—
		NOTCH4	Unknown	23583980	GWAS catalog	Endocrine resistance Notch signaling pathway Thyroid hormone signaling pathway +11 more
		NRG3	Unknown	36382269	GWAS catalog	ErbB signaling pathway Amyotrophic lateral sclerosis Signaling by ERBB2 +15 more
		NTM	Unknown	32737115	GWAS catalog	Post-translational modification: synthesis of GPI-anchored proteins
		PLPPR1	Unknown	34594039	GWAS catalog	Lysosphingolipid and LPA receptors
		POLR2K	Unknown	32737115	GWAS catalog	RNA polymerase Nucleotide excision repair Cytosolic DNA-sensing pathway +34 more
		PPFIBP2	Unknown	36382269	GWAS catalog	Receptor-type tyrosine-protein phosphatases
		RAP1GAP2	Unknown	32737115	GWAS catalog	Rap1 signalling
		RPA3	Unknown	32737115	GWAS catalog	DNA replication Nucleotide excision repair Mismatch repair +29 more
		SPAG1	Unknown	32737115	GWAS catalog	—
		SPDL1	Unknown	34594039	GWAS catalog	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +3 more
		STN1	Unknown	23583980	GWAS catalog	Telomere C-strand synthesis initiation
		TERT	Unknown	23583980 34594039	GWAS catalog	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
		THSD7B	Unknown	36382269	GWAS catalog	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		UMAD1	Unknown	32737115	GWAS catalog	—
		ZKSCAN1	Unknown	23583980	GWAS catalog	Generic Transcription Pathway
INTERSTITIAL LUNG DISEASE 1	619611 C5562021 MONDO:0030608	SFTPA1	Causal	26792177 28869238 30854216 31601679 32855221	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Phagosome Pertussis Toll Like Receptor 4 (TLR4) Cascade +6 more
INTERSTITIAL LUNG DISEASE 2	C5561926 178500 MONDO:0800029	ABCA3	Causal	—	Disgenet	ABC transporters ABC transporters in lipid homeostasis Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3) +2 more
		IL1RN	Causal	—	Disgenet	Cytokine-cytokine receptor interaction Interleukin-10 signaling Interleukin-1 signaling
		TERT	Causal	—	ClinVar, Disgenet, HPO	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
		DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		FAM13A	Unknown	—	Disgenet	Rho GTPase cycle
		MUC5B	Unknown	—	ClinVar, Disgenet	IL-17 signaling pathway Salivary secretion Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) +5 more
		SFTPA1	Unknown	—	Disgenet	Phagosome Pertussis Toll Like Receptor 4 (TLR4) Cascade +6 more
INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY	440402 MONDO:0012582	ABCA3	Causal	15044640 17142808 19220077 22018035 23715323 32196812 32238781 32692933	ClinGen, ClinVar, GWAS catalog, Orphanet	ABC transporters ABC transporters in lipid homeostasis Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3) +2 more

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Interstitial lung disease

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