Interstitial lung disease | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
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 MONDO:0800497	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
		RTEL1	Causal	—	Disgenet	Telomere Extension By Telomerase Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
		SFTPA2	Causal	19100526 20466729 23715323 25553246 26568241 29567124 32602668 32855221 36135709	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Phagosome Pertussis Toll Like Receptor 4 (TLR4) Cascade +7 more
		SFTPC	Causal	—	ClinVar, Disgenet, HPO	Surfactant metabolism Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS) Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) +1 more
		TERT	Causal	—	ClinVar, Disgenet, HPO	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 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