Pulmonary Fibrosis_Interstitial Lung Disease (Version 0.178)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 80 Entitiess
Green Green List (high evidence)	ABCA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921 Tags
Green Green List (high evidence)	ACVRL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 Childhood Pulmonary Arterial Hypertension Tags
Green Green List (high evidence)	AFF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes CHOPS syndrome, MIM# 616368 Tags
Green Green List (high evidence)	AP3B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags clinical trial treatable
Green Green List (high evidence)	BMPR2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600 Pulmonary venoocclusive disease 1 MIM#265450 Tags
Green Green List (high evidence)	CAV1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Pulmonary hypertension, primary, 3, MIM# 615343 Lipodystrophy, familial partial, type 7, MIM# 606721 Tags
Green Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 Tags
Green Green List (high evidence)	CFTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cystic fibrosis, MIM# 219700 Tags
Green Green List (high evidence)	COPA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414 Tags
Green Green List (high evidence)	CSF2RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 Tags
Green Green List (high evidence)	CSF2RB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370 Tags
Green Green List (high evidence)	DKC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome Tags
Green Green List (high evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700 Childhood bronchiectasis Tags
Green Green List (high evidence)	EFEMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IB MIM# 614437 Tags
Green Green List (high evidence)	ELN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal dominant, MIM# 123700 Tags
Green Green List (high evidence)	FAM111B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Tags
Green Green List (high evidence)	FARSA	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rajab interstitial lung disease with brain calcifications 2, MIM# 619013 Tags
Green Green List (high evidence)	FARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rajab syndrome, MIM#613658 interstitial lung disease brain calcifications microcephaly intellectual disability Tags
Green Green List (high evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hennekam Syndrome, MIM# 235510 childhood pulmonary lymphangiectasia Tags
Green Green List (high evidence)	FBLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IA, MIM# 219100 childhood-onset emphysema Tags
Green Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Marfan syndrome, MIM# 154700 neonatal Tags
Green Green List (high evidence)	FGF10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Lacrimoauriculodentodigital (LAAD) syndrome - pulmonary hypoplasia Tags
Green Green List (high evidence)	FLNA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Interstitial lung disease Tags
Green Green List (high evidence)	FOXF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 Tags
Green Green List (high evidence)	GATA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 21, MIM# 614172 MONDO:0042982 Emberger syndrome, MIM# 614038 MONDO:0013540 chILD, childhood pulmonary alveolar proteinosis Tags treatable
Green Green List (high evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, type I, MIM# 230800 Tags
Green Green List (high evidence)	HPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 MONDO:0008748 Tags
Green Green List (high evidence)	HPS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 MONDO:0013556 Tags
Green Green List (high evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Costello syndrome 218040 chILD, pulmonary arterial hypertension Tags
Green Green List (high evidence)	ITGA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Tags
Green Green List (high evidence)	KCNK3	4 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pulmonary hypertension, primary, 4 MIM#615344 Tags
Green Green List (high evidence)	LRBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700 Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) -like Childhood bronchiectasis and GLILD (Granulomatous and Lymphocytic interstitial lung disease) Tags
Green Green List (high evidence)	LTBP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IC, MIM# 613177 Urban-Rifkin-Davis Syndrome – cutis laxa Infant/Childhood emphysema Tags
Green Green List (high evidence)	MARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Interstitial lung and liver disease, MIM#615486 Tags new gene name
Green Green List (high evidence)	NAF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365 Tags
Green Green List (high evidence)	NF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurofibromatosis, type 1, MIM# 162200 Diffuse interstitial lung disease Pulmonary hypertension Tags
Green Green List (high evidence)	NHLRC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278 Tags
Green Green List (high evidence)	NKX2-1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Tags
Green Green List (high evidence)	OAS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Tags
Green Green List (high evidence)	PARN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371 Tags
Green Green List (high evidence)	PHOX2B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880 Tags
Green Green List (high evidence)	POLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Telomere biology syndrome MONDO:0100137 Tags
Green Green List (high evidence)	RPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767 Bone marrow failure T- and B-cell lymphopaenia pulmonary fibrosis skin manifestations short telomeres Tags
Green Green List (high evidence)	RTEL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373 Tags
Green Green List (high evidence)	SFTPA1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Idiopathic pulmonary fibrosis Interstitial lung disease 1, MIM# 619611 Tags
Green Green List (high evidence)	SFTPA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary fibrosis, idiopathic, MIM# 178500 Tags
Green Green List (high evidence)	SFTPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120 Tags
Green Green List (high evidence)	SFTPC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913 Tags
Green Green List (high evidence)	SLC34A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary alveolar microlithiasis, MIM# 265100 Tags
Green Green List (high evidence)	SLC7A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lysinuric protein intolerance, MIM# 222700 Tags
Green Green List (high evidence)	SMAD9	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary hypertension, primary, 2 MIM#615342 Tags
Green Green List (high evidence)	SMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Niemann-Pick disease, type B, MIM# 607616 MONDO:0011871 Tags
Green Green List (high evidence)	SOX18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940 Tags
Green Green List (high evidence)	SRRM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 72, MIM# 620439 Tags
Green Green List (high evidence)	STAT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892 Childhood bronchiectasis Tags
Green Green List (high evidence)	STAT3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome MIM# 147060 Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Childhood bronchiectasis, interstitial lung disease or pneumatocele Tags
Green Green List (high evidence)	STRA6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 9, MIM# 601186 Tags
Green Green List (high evidence)	TBX4	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891 Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360 Tags
Green Green List (high evidence)	TERC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743 Tags non-coding gene
Green Green List (high evidence)	TERT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, MIM# 613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Tags
Green Green List (high evidence)	TINF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 3, MIM# 613990 Revesz syndrome, MIM# 268130 Tags
Green Green List (high evidence)	TMEM173	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes STING-associated vasculopathy, infantile-onset, MIM# 615934 Tags
Green Green List (high evidence)	WFDC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bronchiectasis and nasal polyposis, MIM# 620984 Tags founder
Green Green List (high evidence)	ZCCHC8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Tags
Amber Amber List (moderate evidence)	ACD	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Tags
Amber Amber List (moderate evidence)	ASCL1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Tags
Amber Amber List (moderate evidence)	FGFR2	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies. Tags
Amber Amber List (moderate evidence)	FOXC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 153400 infant pulmonary lymphangiectasia Tags
Amber Amber List (moderate evidence)	NHP2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Dyskeratosis congenita, autosomal recessive 2 MONDO:0013519 Tags
Amber Amber List (moderate evidence)	PGM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 23, MIM# 615816 HIES (Job syndrome) Bronchiectasis Tags
Amber Amber List (moderate evidence)	ZBTB7B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Inborn error of immunity, MONDO:0003778, ZBTB7B-related Tags
Red Red List (low evidence)	ARHGAP42	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Interstitial lung disease systemic hypertension immunological abnormalities Tags
Red Red List (low evidence)	ASAH1	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950 Farber lipogranulomatosis, MIM# 228000 Tags
Red Red List (low evidence)	BMPR1B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Pulmonary arterial hypertension, MONDO:0015924 Tags disputed
Red Red List (low evidence)	CARD11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 11B with atopic dermatitis, MIM# 617638 HIES (Job syndrome) Bronchiectasis Tags
Red Red List (low evidence)	FOXP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI) Tags
Red Red List (low evidence)	GDNF	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, MIM# 209880 Tags
Red Red List (low evidence)	HPS6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 6, MIM# 614075 Tags
Red Red List (low evidence)	RET	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM#209880 Tags
Red Red List (low evidence)	ZNF341	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282 Bronchiectasis Tags

Pulmonary Fibrosis_Interstitial Lung Disease (Version 0.178)

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