Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ASCL1	gene	ASCL1	Expert Review Amber;Victorian Clinical Genetics Services	Pulmonary Fibrosis_Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, MIM# 209880			Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530	14532329		False	2	0;100;0	1.11	True		ENSG00000139352	ENSG00000139352	HGNC:738													
FGFR2	gene	FGFR2	Expert Review Amber;Victorian Clinical Genetics Services	Pulmonary Fibrosis_Interstitial Lung Disease		Respiratory disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.			Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530	27323706		False	2	0;100;0	1.11	True		ENSG00000066468	ENSG00000066468	HGNC:3689													
FOXC2	gene	FOXC2	Expert Review Amber;Victorian Clinical Genetics Services	Pulmonary Fibrosis_Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	153400;infant pulmonary lymphangiectasia"			Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530	21918810;25252123		False	2	0;100;0	1.11	True		ENSG00000176692	ENSG00000176692	HGNC:3801													
HMOX1	gene	HMOX1	Expert Review Amber;Literature	Pulmonary Fibrosis_Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Heme oxygenase-1 deficiency, MIM# 614034			Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530	38178812;33066778		False	2	0;100;0	1.11	True		ENSG00000100292	ENSG00000100292	HGNC:5013													
IFIH1	gene	IFIH1	Expert Review Amber;Literature	Pulmonary Fibrosis_Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aicardi-Goutieres syndrome 7, MIM#615846			Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530	37126154;32508843		False	2	0;100;0	1.11	True		ENSG00000115267	ENSG00000115267	HGNC:18873													
NDUFAF6	gene	NDUFAF6	Expert Review Amber;Literature	Pulmonary Fibrosis_Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi renotubular syndrome 5, MIM# 618913			Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530	27466185		False	2	0;100;0	1.11	True		ENSG00000156170	ENSG00000156170	HGNC:28625													
NHP2	gene	NHP2	Expert Review;Expert Review Amber	Pulmonary Fibrosis_Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 2 MONDO:0013519			Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530	40352450;40073202		False	2	0;50;50	1.11	True		ENSG00000145912	ENSG00000145912	HGNC:14377													
PGM3	gene	PGM3	Expert list;Expert Review Amber	Pulmonary Fibrosis_Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	"Immunodeficiency 23, MIM#	615816;HIES (Job syndrome);Bronchiectasis"			Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530	24698316;24589341;28704707;30264496		False	2	0;100;0	1.11	True		ENSG00000013375	ENSG00000013375	HGNC:8907													
POT1	gene	POT1	Expert Review Amber;Literature	Pulmonary Fibrosis_Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Telomere syndrome, MONDO:0100137, POT1-related			Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530	35420632;30995915		False	2	0;100;0	1.11	True		ENSG00000128513	ENSG00000128513	HGNC:17284													
ZBTB7B	gene	ZBTB7B	Expert Review Amber;Literature	Pulmonary Fibrosis_Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Inborn error of immunity, MONDO:0003778, ZBTB7B-related			Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530	PMID: 40392549		False	2	0;100;0	1.11	True	Other	ENSG00000160685	ENSG00000160685	HGNC:18668