Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormality of the respiratory system (HP:0002086)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
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Neoplasm of the respiratory system (HP:0100606)help
Term ID: 100606
Name: Neoplasm of the respiratory system
Synonym: Respiratory system tumor; Respiratory system tumour
Definition: A tumor (abnormal growth of tissue) of the respiratory system.
Comments:
Reference: HP:0100606
Genes and Diseases:
 
       Child Nodes:
........expandNeoplasm of the lung (HP:0100526) help
................... HP:0010616 Lung fibroma
................... HP:0011953 Pulmonary lymphoma
................... HP:0012798 Pulmonary lymphangiomyomatosis
................... HP:0030077 Bronchial neoplasm
................... HP:0030357 Small cell lung carcinoma
................... HP:0030358 Non-small cell lung carcinoma
................... HP:0031474 Pulmonary chondroma
................... HP:0100552 Neoplasm of the tracheobronchial system
................... HP:0100636 Pulmonary paraglioma
........expandNeoplasia of the pleura (HP:0100527) help
................... HP:0100002 Pleural mesothelioma
................... HP:0100528 Pleuropulmonary blastoma
........expandNeoplasm of the larynx (HP:0100605) help
................... HP:0012118 Laryngeal carcinoma
........expandNeoplasia of the nasopharynx (HP:0100630) help
................... HP:0012720 Neoplasm of the nose
................... HP:0100638 Neoplasm of the pharynx

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100606HP:0100606Neoplasm of the respiratory system0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0100606HP:0100606Neoplasm of the respiratory system0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0100606HP:0100606Neoplasm of the respiratory system0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0100606HP:0100606Neoplasm of the respiratory system0BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome184
HP:0100606HP:0100606Neoplasm of the respiratory system0BRAF CL E G H6731097OMIM:211980Lung cancer, susceptibility to276
HP:0100606HP:0100606Neoplasm of the respiratory system0BRCA2 CL E G H6751101ORPHA:654Nephroblastoma7642
HP:0100606HP:0100606Neoplasm of the respiratory system0CASP8 CL E G H8411509OMIM:211980Lung cancer, susceptibility to37
HP:0100606HP:0100606Neoplasm of the respiratory system0CAT CL E G H8471516ORPHA:926Acatalasemia5
HP:0100606HP:0100606Neoplasm of the respiratory system0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0100606HP:0100606Neoplasm of the respiratory system0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0100606HP:0100606Neoplasm of the respiratory system0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0100606HP:0100606Neoplasm of the respiratory system0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0100606HP:0100606Neoplasm of the respiratory system0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0100606HP:0100606Neoplasm of the respiratory system0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0100606HP:0100606Neoplasm of the respiratory system0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0100606HP:0100606Neoplasm of the respiratory system0CYP2A6 CL E G H15482610OMIM:211980Lung cancer, susceptibility to6
HP:0100606HP:0100606Neoplasm of the respiratory system0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100606HP:0100606Neoplasm of the respiratory system0DICER1 CL E G H2340517098OMIM:601200PLEUROPULMONARY BLASTOMA; PPB670
HP:0100606HP:0100606Neoplasm of the respiratory system0DICER1 CL E G H2340517098OMIM:180295RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2670
HP:0100606HP:0100606Neoplasm of the respiratory system0DIS3L2 CL E G H12956328648ORPHA:654Nephroblastoma164
HP:0100606HP:0100606Neoplasm of the respiratory system0EGFR CL E G H19563236OMIM:211980Lung cancer, susceptibility to257
HP:0100606HP:0100606Neoplasm of the respiratory system0ERBB2 CL E G H20643430OMIM:211980Lung cancer, susceptibility to77
HP:0100606HP:0100606Neoplasm of the respiratory system0ERCC6 CL E G H20743438OMIM:211980Lung cancer, susceptibility to199
HP:0100606HP:0100606Neoplasm of the respiratory system0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumor
HP:0100606HP:0100606Neoplasm of the respiratory system0FASLG CL E G H35611936OMIM:211980Lung cancer, susceptibility to37
HP:0100606HP:0100606Neoplasm of the respiratory system0GPC3 CL E G H27194451ORPHA:654Nephroblastoma73
HP:0100606HP:0100606Neoplasm of the respiratory system0H19 CL E G H2831204713ORPHA:654Nephroblastoma4
HP:0100606HP:0100606Neoplasm of the respiratory system0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0100606HP:0100606Neoplasm of the respiratory system0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100606HP:0100606Neoplasm of the respiratory system0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0100606HP:0100606Neoplasm of the respiratory system0IRF1 CL E G H36596116OMIM:211980Lung cancer, susceptibility to2
HP:0100606HP:0100606Neoplasm of the respiratory system0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100606HP:0100606Neoplasm of the respiratory system0KRAS CL E G H38456407OMIM:211980Lung cancer, susceptibility to196
HP:0100606HP:0100606Neoplasm of the respiratory system0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0100606HP:0100606Neoplasm of the respiratory system0MAP3K8 CL E G H13266860OMIM:211980Lung cancer, susceptibility to
HP:0100606HP:0100606Neoplasm of the respiratory system0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0100606HP:0100606Neoplasm of the respiratory system0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0100606HP:0100606Neoplasm of the respiratory system0MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0100606HP:0100606Neoplasm of the respiratory system0MLH1 CL E G H42927127ORPHA:587Muir-Torre syndrome1819
HP:0100606HP:0100606Neoplasm of the respiratory system0MSH2 CL E G H44367325ORPHA:587Muir-Torre syndrome2162
HP:0100606HP:0100606Neoplasm of the respiratory system0MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0100606HP:0100606Neoplasm of the respiratory system0MSH6 CL E G H29567329ORPHA:587Muir-Torre syndrome2232
HP:0100606HP:0100606Neoplasm of the respiratory system0MST1R CL E G H44867381OMIM:617075Nasopharyngeal carcinoma, susceptibility to, 32
HP:0100606HP:0100606Neoplasm of the respiratory system0MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0100606HP:0100606Neoplasm of the respiratory system0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytoma
HP:0100606HP:0100606Neoplasm of the respiratory system0NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0100606HP:0100606Neoplasm of the respiratory system0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0100606HP:0100606Neoplasm of the respiratory system0NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0100606HP:0100606Neoplasm of the respiratory system0NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosis144
HP:0100606HP:0100606Neoplasm of the respiratory system0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0100606HP:0100606Neoplasm of the respiratory system0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100606HP:0100606Neoplasm of the respiratory system0PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosis28
HP:0100606HP:0100606Neoplasm of the respiratory system0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0100606HP:0100606Neoplasm of the respiratory system0PIK3CA CL E G H52908975OMIM:211980Lung cancer, susceptibility to162
HP:0100606HP:0100606Neoplasm of the respiratory system0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0100606HP:0100606Neoplasm of the respiratory system0POT1 CL E G H2591317284OMIM:616568Glioma susceptibility 923
HP:0100606HP:0100606Neoplasm of the respiratory system0POU6F2 CL E G H1128121694ORPHA:654Nephroblastoma2
HP:0100606HP:0100606Neoplasm of the respiratory system0PPP2R1B CL E G H55199303OMIM:211980Lung cancer, susceptibility to1
HP:0100606HP:0100606Neoplasm of the respiratory system0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0100606HP:0100606Neoplasm of the respiratory system0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100606HP:0100606Neoplasm of the respiratory system0PRKN CL E G H50718607OMIM:211980Lung cancer, susceptibility to138
HP:0100606HP:0100606Neoplasm of the respiratory system0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0100606HP:0100606Neoplasm of the respiratory system0RB1 CL E G H59259884OMIM:182280Small cell cancer of the lung365
HP:0100606HP:0100606Neoplasm of the respiratory system0RELA CL E G H59709955ORPHA:251636Ependymoma1
HP:0100606HP:0100606Neoplasm of the respiratory system0REST CL E G H59789966ORPHA:654Nephroblastoma7
HP:0100606HP:0100606Neoplasm of the respiratory system0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0100606HP:0100606Neoplasm of the respiratory system0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0100606HP:0100606Neoplasm of the respiratory system0SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0100606HP:0100606Neoplasm of the respiratory system0SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0100606HP:0100606Neoplasm of the respiratory system0SLC22A18 CL E G H500210964OMIM:211980Lung cancer, susceptibility to3
HP:0100606HP:0100606Neoplasm of the respiratory system0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0100606HP:0100606Neoplasm of the respiratory system0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0100606HP:0100606Neoplasm of the respiratory system0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytoma1
HP:0100606HP:0100606Neoplasm of the respiratory system0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0100606HP:0100606Neoplasm of the respiratory system0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0100606HP:0100606Neoplasm of the respiratory system0TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0100606HP:0100606Neoplasm of the respiratory system0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0100606HP:0100606Neoplasm of the respiratory system0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0100606HP:0100606Neoplasm of the respiratory system0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome911
HP:0100606HP:0100606Neoplasm of the respiratory system0TP53 CL E G H715711998OMIM:607107Nasopharyngeal carcinoma911
HP:0100606HP:0100606Neoplasm of the respiratory system0TRIM28 CL E G H1015516384ORPHA:654Nephroblastoma2
HP:0100606HP:0100606Neoplasm of the respiratory system0TRIP13 CL E G H931912307ORPHA:654Nephroblastoma2
HP:0100606HP:0100606Neoplasm of the respiratory system0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0100606HP:0100606Neoplasm of the respiratory system0TSC1 CL E G H724812362OMIM:606690LYMPHANGIOLEIOMYOMATOSIS1090
HP:0100606HP:0100606Neoplasm of the respiratory system0TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0100606HP:0100606Neoplasm of the respiratory system0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100606HP:0100606Neoplasm of the respiratory system0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0100606HP:0100606Neoplasm of the respiratory system0TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0100606HP:0100606Neoplasm of the respiratory system0TSC2 CL E G H724912363OMIM:606690LYMPHANGIOLEIOMYOMATOSIS2738
HP:0100606HP:0100606Neoplasm of the respiratory system0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100606HP:0100606Neoplasm of the respiratory system0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0100606HP:0100606Neoplasm of the respiratory system0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0100606HP:0100606Neoplasm of the respiratory system0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumor177
HP:0100606HP:0100606Neoplasm of the respiratory system0WT1 CL E G H749012796ORPHA:654Nephroblastoma177
HP:0100606HP:0100606Neoplasm of the respiratory system0ZFTA CL E G H6599828449ORPHA:251636Ependymoma
HP:0100606HP:0100606Neoplasm of the respiratory system0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0100606HP:0100526Neoplasm of the lung1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0100606HP:0100526Neoplasm of the lung1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0100606HP:0100526Neoplasm of the lung1APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0100606HP:0100526Neoplasm of the lung1BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome184
HP:0100606HP:0100526Neoplasm of the lung1BRAF CL E G H6731097OMIM:211980Lung cancer, susceptibility to276
HP:0100606HP:0100526Neoplasm of the lung1BRCA2 CL E G H6751101ORPHA:654NephroblastomaHP:0040283 - Occasional7642
HP:0100606HP:0100526Neoplasm of the lung1CASP8 CL E G H8411509OMIM:211980Lung cancer, susceptibility to37
HP:0100606HP:0100605Neoplasm of the larynx1CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040284 - Very rare5
HP:0100606HP:0100526Neoplasm of the lung1CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0100606HP:0100526Neoplasm of the lung1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0100606HP:0100605Neoplasm of the larynx1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0100606HP:0100526Neoplasm of the lung1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0100606HP:0100605Neoplasm of the larynx1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0100606HP:0100526Neoplasm of the lung1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0100606HP:0100526Neoplasm of the lung1COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0100606HP:0100526Neoplasm of the lung1COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0100606HP:0100526Neoplasm of the lung1CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0100606HP:0100526Neoplasm of the lung1CYP2A6 CL E G H15482610OMIM:211980Lung cancer, susceptibility to6
HP:0100606HP:0100526Neoplasm of the lung1DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100606HP:0100527Neoplasia of the pleura1DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100606HP:0100527Neoplasia of the pleura1DICER1 CL E G H2340517098OMIM:601200PLEUROPULMONARY BLASTOMA; PPB670
HP:0100606HP:0100526Neoplasm of the lung1DICER1 CL E G H2340517098OMIM:601200PLEUROPULMONARY BLASTOMA; PPB670
HP:0100606HP:0100527Neoplasia of the pleura1DICER1 CL E G H2340517098OMIM:180295RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2670
HP:0100606HP:0100526Neoplasm of the lung1DICER1 CL E G H2340517098OMIM:180295RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2670
HP:0100606HP:0100526Neoplasm of the lung1DIS3L2 CL E G H12956328648ORPHA:654NephroblastomaHP:0040283 - Occasional164
HP:0100606HP:0100526Neoplasm of the lung1EGFR CL E G H19563236OMIM:211980Lung cancer, susceptibility to257
HP:0100606HP:0100526Neoplasm of the lung1ERBB2 CL E G H20643430OMIM:211980Lung cancer, susceptibility to77
HP:0100606HP:0100526Neoplasm of the lung1ERCC6 CL E G H20743438OMIM:211980Lung cancer, susceptibility to199
HP:0100606HP:0100526Neoplasm of the lung1EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040283 - Occasional
HP:0100606HP:0100526Neoplasm of the lung1FASLG CL E G H35611936OMIM:211980Lung cancer, susceptibility to37
HP:0100606HP:0100526Neoplasm of the lung1GPC3 CL E G H27194451ORPHA:654NephroblastomaHP:0040283 - Occasional73
HP:0100606HP:0100526Neoplasm of the lung1H19 CL E G H2831204713ORPHA:654NephroblastomaHP:0040283 - Occasional4
HP:0100606HP:0100526Neoplasm of the lung1HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0100606HP:0100526Neoplasm of the lung1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100606HP:0100526Neoplasm of the lung1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0100606HP:0100526Neoplasm of the lung1IRF1 CL E G H36596116OMIM:211980Lung cancer, susceptibility to2
HP:0100606HP:0100526Neoplasm of the lung1KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100606HP:0100527Neoplasia of the pleura1KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100606HP:0100526Neoplasm of the lung1KRAS CL E G H38456407OMIM:211980Lung cancer, susceptibility to196
HP:0100606HP:0100526Neoplasm of the lung1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040282 - Frequent645
HP:0100606HP:0100526Neoplasm of the lung1MAP3K8 CL E G H13266860OMIM:211980Lung cancer, susceptibility to
HP:0100606HP:0100526Neoplasm of the lung1MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional22
HP:0100606HP:0100605Neoplasm of the larynx1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0100606HP:0100526Neoplasm of the lung1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0100606HP:0100605Neoplasm of the larynx1MLH1 CL E G H42927127ORPHA:587Muir-Torre syndrome1819
HP:0100606HP:0100605Neoplasm of the larynx1MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0100606HP:0100605Neoplasm of the larynx1MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0100606HP:0100605Neoplasm of the larynx1MSH2 CL E G H44367325ORPHA:587Muir-Torre syndrome2162
HP:0100606HP:0100605Neoplasm of the larynx1MSH6 CL E G H29567329ORPHA:587Muir-Torre syndrome2232
HP:0100606HP:0100630Neoplasia of the nasopharynx1MST1R CL E G H44867381OMIM:617075Nasopharyngeal carcinoma, susceptibility to, 32
HP:0100606HP:0100526Neoplasm of the lung1MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0100606HP:0100526Neoplasm of the lung1NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0100606HP:0100527Neoplasia of the pleura1NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040283 - Occasional
HP:0100606HP:0100526Neoplasm of the lung1NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0100606HP:0100605Neoplasm of the larynx1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0100606HP:0100605Neoplasm of the larynx1NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0100606HP:0100526Neoplasm of the lung1NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosisHP:0040282 - Frequent144
HP:0100606HP:0100526Neoplasm of the lung1NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0100606HP:0100630Neoplasia of the nasopharynx1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100606HP:0100526Neoplasm of the lung1PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosisHP:0040282 - Frequent28
HP:0100606HP:0100526Neoplasm of the lung1PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional
HP:0100606HP:0100526Neoplasm of the lung1PIK3CA CL E G H52908975OMIM:211980Lung cancer, susceptibility to162
HP:0100606HP:0100605Neoplasm of the larynx1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0100606HP:0100526Neoplasm of the lung1POT1 CL E G H2591317284OMIM:616568Glioma susceptibility 923
HP:0100606HP:0100526Neoplasm of the lung1POU6F2 CL E G H1128121694ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0100606HP:0100526Neoplasm of the lung1PPP2R1B CL E G H55199303OMIM:211980Lung cancer, susceptibility to1
HP:0100606HP:0100526Neoplasm of the lung1PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0100606HP:0100630Neoplasia of the nasopharynx1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100606HP:0100526Neoplasm of the lung1PRKN CL E G H50718607OMIM:211980Lung cancer, susceptibility to138
HP:0100606HP:0100526Neoplasm of the lung1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0100606HP:0100526Neoplasm of the lung1RB1 CL E G H59259884OMIM:182280Small cell cancer of the lung.365
HP:0100606HP:0100526Neoplasm of the lung1RELA CL E G H59709955ORPHA:251636EpendymomaHP:0040284 - Very rare1
HP:0100606HP:0100526Neoplasm of the lung1REST CL E G H59789966ORPHA:654NephroblastomaHP:0040283 - Occasional7
HP:0100606HP:0100605Neoplasm of the larynx1RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0100606HP:0100526Neoplasm of the lung1SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0100606HP:0100526Neoplasm of the lung1SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0100606HP:0100526Neoplasm of the lung1SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0100606HP:0100526Neoplasm of the lung1SLC22A18 CL E G H500210964OMIM:211980Lung cancer, susceptibility to3
HP:0100606HP:0100526Neoplasm of the lung1SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0100606HP:0100526Neoplasm of the lung1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0100606HP:0100527Neoplasia of the pleura1STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040283 - Occasional1
HP:0100606HP:0100526Neoplasm of the lung1STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0100606HP:0100630Neoplasia of the nasopharynx1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0100606HP:0100526Neoplasm of the lung1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0100606HP:0100526Neoplasm of the lung1TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0100606HP:0100526Neoplasm of the lung1TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0100606HP:0100526Neoplasm of the lung1TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0100606HP:0100526Neoplasm of the lung1TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome911
HP:0100606HP:0100526Neoplasm of the lung1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0100606HP:0100605Neoplasm of the larynx1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0100606HP:0100630Neoplasia of the nasopharynx1TP53 CL E G H715711998OMIM:607107Nasopharyngeal carcinoma.911
HP:0100606HP:0100526Neoplasm of the lung1TRIM28 CL E G H1015516384ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0100606HP:0100526Neoplasm of the lung1TRIP13 CL E G H931912307ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0100606HP:0100526Neoplasm of the lung1TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional151
HP:0100606HP:0100526Neoplasm of the lung1TSC1 CL E G H724812362OMIM:606690LYMPHANGIOLEIOMYOMATOSIS1090
HP:0100606HP:0100526Neoplasm of the lung1TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0100606HP:0100526Neoplasm of the lung1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100606HP:0100526Neoplasm of the lung1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0100606HP:0100526Neoplasm of the lung1TSC2 CL E G H724912363OMIM:606690LYMPHANGIOLEIOMYOMATOSIS2738
HP:0100606HP:0100526Neoplasm of the lung1TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0100606HP:0100526Neoplasm of the lung1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100606HP:0100526Neoplasm of the lung1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0100606HP:0100526Neoplasm of the lung1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0100606HP:0100526Neoplasm of the lung1WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040283 - Occasional177
HP:0100606HP:0100526Neoplasm of the lung1WT1 CL E G H749012796ORPHA:654NephroblastomaHP:0040283 - Occasional177
HP:0100606HP:0100526Neoplasm of the lung1ZFTA CL E G H6599828449ORPHA:251636EpendymomaHP:0040284 - Very rare
HP:0100606HP:0100526Neoplasm of the lung1ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0100606HP:0010616Lung fibroma2 CL E G H
HP:0100606HP:0031474Pulmonary chondroma2 CL E G H
HP:0100606HP:0100636Pulmonary paraglioma2 CL E G H
HP:0100606HP:0100002Pleural mesothelioma2 CL E G H
HP:0100606HP:0011953Pulmonary lymphoma2 CL E G H
HP:0100606HP:0030357Small cell lung carcinoma2APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0100606HP:0030358Non-small cell lung carcinoma2BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome184
HP:0100606HP:0030358Non-small cell lung carcinoma2BRAF CL E G H6731097OMIM:211980Lung cancer, susceptibility to.276
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2BRAF CL E G H6731097OMIM:211980Lung cancer, susceptibility to276
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2CASP8 CL E G H8411509OMIM:211980Lung cancer, susceptibility to37
HP:0100606HP:0030358Non-small cell lung carcinoma2CASP8 CL E G H8411509OMIM:211980Lung cancer, susceptibility to.37
HP:0100606HP:0030358Non-small cell lung carcinoma2CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0100606HP:0030358Non-small cell lung carcinoma2CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0100606HP:0030358Non-small cell lung carcinoma2CYP2A6 CL E G H15482610OMIM:211980Lung cancer, susceptibility to.6
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2CYP2A6 CL E G H15482610OMIM:211980Lung cancer, susceptibility to6
HP:0100606HP:0100528Pleuropulmonary blastoma2DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2DICER1 CL E G H2340517098OMIM:601200PLEUROPULMONARY BLASTOMA; PPB670
HP:0100606HP:0100528Pleuropulmonary blastoma2DICER1 CL E G H2340517098OMIM:601200PLEUROPULMONARY BLASTOMA; PPB670
HP:0100606HP:0100528Pleuropulmonary blastoma2DICER1 CL E G H2340517098OMIM:180295RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2670
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2DICER1 CL E G H2340517098OMIM:180295RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2670
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2EGFR CL E G H19563236OMIM:211980Lung cancer, susceptibility to257
HP:0100606HP:0030358Non-small cell lung carcinoma2EGFR CL E G H19563236OMIM:211980Lung cancer, susceptibility to.257
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2ERBB2 CL E G H20643430OMIM:211980Lung cancer, susceptibility to77
HP:0100606HP:0030358Non-small cell lung carcinoma2ERBB2 CL E G H20643430OMIM:211980Lung cancer, susceptibility to.77
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2ERCC6 CL E G H20743438OMIM:211980Lung cancer, susceptibility to199
HP:0100606HP:0030358Non-small cell lung carcinoma2ERCC6 CL E G H20743438OMIM:211980Lung cancer, susceptibility to.199
HP:0100606HP:0030358Non-small cell lung carcinoma2FASLG CL E G H35611936OMIM:211980Lung cancer, susceptibility to.37
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2FASLG CL E G H35611936OMIM:211980Lung cancer, susceptibility to37
HP:0100606HP:0012798Pulmonary lymphangiomyomatosis2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0100606HP:0012798Pulmonary lymphangiomyomatosis2IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0100606HP:0030358Non-small cell lung carcinoma2IRF1 CL E G H36596116OMIM:211980Lung cancer, susceptibility to.2
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2IRF1 CL E G H36596116OMIM:211980Lung cancer, susceptibility to2
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100606HP:0100528Pleuropulmonary blastoma2KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2KRAS CL E G H38456407OMIM:211980Lung cancer, susceptibility to196
HP:0100606HP:0030358Non-small cell lung carcinoma2KRAS CL E G H38456407OMIM:211980Lung cancer, susceptibility to.196
HP:0100606HP:0030358Non-small cell lung carcinoma2MAP3K8 CL E G H13266860OMIM:211980Lung cancer, susceptibility to.
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2MAP3K8 CL E G H13266860OMIM:211980Lung cancer, susceptibility to
HP:0100606HP:0012118Laryngeal carcinoma2MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome.1819
HP:0100606HP:0012118Laryngeal carcinoma2MLH1 CL E G H42927127ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional1819
HP:0100606HP:0012118Laryngeal carcinoma2MSH2 CL E G H44367325ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional2162
HP:0100606HP:0012118Laryngeal carcinoma2MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome.2162
HP:0100606HP:0012118Laryngeal carcinoma2MSH6 CL E G H29567329ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional2232
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0100606HP:0030358Non-small cell lung carcinoma2NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0100606HP:0033001Laryngeal papilloma2NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0100606HP:0033001Laryngeal papilloma2NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0100606HP:0030357Small cell lung carcinoma2NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0100606HP:0100638Neoplasm of the pharynx2PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100606HP:0012720Neoplasm of the nose2PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100606HP:0030358Non-small cell lung carcinoma2PIK3CA CL E G H52908975OMIM:211980Lung cancer, susceptibility to.162
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2PIK3CA CL E G H52908975OMIM:211980Lung cancer, susceptibility to162
HP:0100606HP:0033001Laryngeal papilloma2PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2PPP2R1B CL E G H55199303OMIM:211980Lung cancer, susceptibility to1
HP:0100606HP:0030358Non-small cell lung carcinoma2PPP2R1B CL E G H55199303OMIM:211980Lung cancer, susceptibility to.1
HP:0100606HP:0030358Non-small cell lung carcinoma2PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0100606HP:0012720Neoplasm of the nose2PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100606HP:0100638Neoplasm of the pharynx2PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2PRKN CL E G H50718607OMIM:211980Lung cancer, susceptibility to138
HP:0100606HP:0030358Non-small cell lung carcinoma2PRKN CL E G H50718607OMIM:211980Lung cancer, susceptibility to.138
HP:0100606HP:0012118Laryngeal carcinoma2RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0100606HP:0030357Small cell lung carcinoma2SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0100606HP:0030358Non-small cell lung carcinoma2SLC22A18 CL E G H500210964OMIM:211980Lung cancer, susceptibility to.3
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2SLC22A18 CL E G H500210964OMIM:211980Lung cancer, susceptibility to3
HP:0100606HP:0030358Non-small cell lung carcinoma2SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0100606HP:0012720Neoplasm of the nose2STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0100606HP:0030358Non-small cell lung carcinoma2TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0100606HP:0100552Neoplasm of the tracheobronchial system2TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0100606HP:0030358Non-small cell lung carcinoma2TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0100606HP:0030358Non-small cell lung carcinoma2TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome911
HP:0100606HP:0012798Pulmonary lymphangiomyomatosis2TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent1090
HP:0100606HP:0012798Pulmonary lymphangiomyomatosis2TSC1 CL E G H724812362OMIM:606690LYMPHANGIOLEIOMYOMATOSIS.1090
HP:0100606HP:0012798Pulmonary lymphangiomyomatosis2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0100606HP:0012798Pulmonary lymphangiomyomatosis2TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0100606HP:0012798Pulmonary lymphangiomyomatosis2TSC2 CL E G H724912363OMIM:606690LYMPHANGIOLEIOMYOMATOSIS.2738
HP:0100606HP:0012798Pulmonary lymphangiomyomatosis2TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent2738
HP:0100606HP:0012798Pulmonary lymphangiomyomatosis2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0100606HP:0012798Pulmonary lymphangiomyomatosis2TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0100606HP:0030358Non-small cell lung carcinoma2ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0100606HP:0030360Large cell lung carcinoma3 CL E G H
HP:0100606HP:0030359Squamous cell lung carcinoma3 CL E G H
HP:0100606HP:0100551Neoplasm of the trachea3 CL E G H
HP:0100606HP:0030077Bronchial neoplasm3 CL E G H
HP:0100606HP:0030078Lung adenocarcinoma3BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome.184
HP:0100606HP:0006519Alveolar cell carcinoma3BRAF CL E G H6731097OMIM:211980Lung cancer, susceptibility to.276
HP:0100606HP:0030078Lung adenocarcinoma3BRAF CL E G H6731097OMIM:211980Lung cancer, susceptibility to.276
HP:0100606HP:0030078Lung adenocarcinoma3CASP8 CL E G H8411509OMIM:211980Lung cancer, susceptibility to.37
HP:0100606HP:0006519Alveolar cell carcinoma3CASP8 CL E G H8411509OMIM:211980Lung cancer, susceptibility to.37
HP:0100606HP:0030078Lung adenocarcinoma3CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0100606HP:0006524Tracheobronchial leiomyomatosis3COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0100606HP:0006524Tracheobronchial leiomyomatosis3COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18
HP:0100606HP:0030078Lung adenocarcinoma3CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0100606HP:0006519Alveolar cell carcinoma3CYP2A6 CL E G H15482610OMIM:211980Lung cancer, susceptibility to.6
HP:0100606HP:0030078Lung adenocarcinoma3CYP2A6 CL E G H15482610OMIM:211980Lung cancer, susceptibility to.6
HP:0100606HP:0100528Pleuropulmonary blastoma3DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0100606HP:0100528Pleuropulmonary blastoma3DICER1 CL E G H2340517098OMIM:601200PLEUROPULMONARY BLASTOMA; PPB670
HP:0100606HP:0100528Pleuropulmonary blastoma3DICER1 CL E G H2340517098OMIM:180295RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2670
HP:0100606HP:0006519Alveolar cell carcinoma3EGFR CL E G H19563236OMIM:211980Lung cancer, susceptibility to.257
HP:0100606HP:0030078Lung adenocarcinoma3EGFR CL E G H19563236OMIM:211980Lung cancer, susceptibility to.257
HP:0100606HP:0030078Lung adenocarcinoma3ERBB2 CL E G H20643430OMIM:211980Lung cancer, susceptibility to.77
HP:0100606HP:0006519Alveolar cell carcinoma3ERBB2 CL E G H20643430OMIM:211980Lung cancer, susceptibility to.77
HP:0100606HP:0006519Alveolar cell carcinoma3ERCC6 CL E G H20743438OMIM:211980Lung cancer, susceptibility to.199
HP:0100606HP:0030078Lung adenocarcinoma3ERCC6 CL E G H20743438OMIM:211980Lung cancer, susceptibility to.199
HP:0100606HP:0030078Lung adenocarcinoma3FASLG CL E G H35611936OMIM:211980Lung cancer, susceptibility to.37
HP:0100606HP:0006519Alveolar cell carcinoma3FASLG CL E G H35611936OMIM:211980Lung cancer, susceptibility to.37
HP:0100606HP:0006519Alveolar cell carcinoma3IRF1 CL E G H36596116OMIM:211980Lung cancer, susceptibility to.2
HP:0100606HP:0030078Lung adenocarcinoma3IRF1 CL E G H36596116OMIM:211980Lung cancer, susceptibility to.2
HP:0100606HP:0100528Pleuropulmonary blastoma3KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent
HP:0100606HP:0006519Alveolar cell carcinoma3KRAS CL E G H38456407OMIM:211980Lung cancer, susceptibility to.196
HP:0100606HP:0030078Lung adenocarcinoma3KRAS CL E G H38456407OMIM:211980Lung cancer, susceptibility to.196
HP:0100606HP:0006519Alveolar cell carcinoma3MAP3K8 CL E G H13266860OMIM:211980Lung cancer, susceptibility to.
HP:0100606HP:0030078Lung adenocarcinoma3MAP3K8 CL E G H13266860OMIM:211980Lung cancer, susceptibility to.
HP:0100606HP:0006519Alveolar cell carcinoma3MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic.133
HP:0100606HP:0030078Lung adenocarcinoma3NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0100606HP:0030072Paranasal sinus neoplasm3PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100606HP:0030078Lung adenocarcinoma3PIK3CA CL E G H52908975OMIM:211980Lung cancer, susceptibility to.162
HP:0100606HP:0006519Alveolar cell carcinoma3PIK3CA CL E G H52908975OMIM:211980Lung cancer, susceptibility to.162
HP:0100606HP:0006519Alveolar cell carcinoma3PPP2R1B CL E G H55199303OMIM:211980Lung cancer, susceptibility to.1
HP:0100606HP:0030078Lung adenocarcinoma3PPP2R1B CL E G H55199303OMIM:211980Lung cancer, susceptibility to.1
HP:0100606HP:0030078Lung adenocarcinoma3PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0100606HP:0030072Paranasal sinus neoplasm3PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100606HP:0030078Lung adenocarcinoma3PRKN CL E G H50718607OMIM:211980Lung cancer, susceptibility to.138
HP:0100606HP:0006519Alveolar cell carcinoma3PRKN CL E G H50718607OMIM:211980Lung cancer, susceptibility to.138
HP:0100606HP:0006519Alveolar cell carcinoma3SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic.10
HP:0100606HP:0006519Alveolar cell carcinoma3SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic.33
HP:0100606HP:0030078Lung adenocarcinoma3SLC22A18 CL E G H500210964OMIM:211980Lung cancer, susceptibility to.3
HP:0100606HP:0006519Alveolar cell carcinoma3SLC22A18 CL E G H500210964OMIM:211980Lung cancer, susceptibility to.3
HP:0100606HP:0030078Lung adenocarcinoma3TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0100606HP:0006519Alveolar cell carcinoma3TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic.238
HP:0100606HP:0030078Lung adenocarcinoma3TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0100606HP:0030078Lung adenocarcinoma3TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome.911
HP:0100606HP:0030078Lung adenocarcinoma3ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent
HP:0100606HP:0033002Bronchial papilloma4 CL E G H
HP:0100606HP:0033003Tracheal papilloma4 CL E G H


Genes (77) :AAGAB AKT1 APC2 BAP1 BRAF BRCA2 CASP8 CAT CDKN2A CHEK2 COL14A1 COL4A5 COL4A6 CTNNB1 CYP2A6 DICER1 DIS3L2 EGFR ERBB2 ERCC6 EWSR1 FASLG GPC3 H19 HPGD IFNG IRF1 KEAP1 KRAS LMNA MAP3K8 MBTPS2 MDM2 MLH1 MSH2 MSH6 MST1R MUC5B NAB2 NDUFAF6 NLRP1 NOTCH3 NSD1 PDE11A PDGFRB PERP PIK3CA PORCN POT1 POU6F2 PPP2R1B PRKAR1A PRKN PTEN RB1 RELA REST RSPO1 SETD2 SFTPA2 SFTPC SLC22A18 SLCO2A1 SPRED1 STAT6 STK11 TERT TP53 TRIM28 TRIP13 TRPV3 TSC1 TSC2 WRN WT1 ZFTA ZNRF3

Diseases (42) :ORPHA:79501 ORPHA:744 ORPHA:821 OMIM:614327 OMIM:211980 ORPHA:654 ORPHA:926 ORPHA:1501 ORPHA:524 ORPHA:1018 ORPHA:276399 OMIM:601200 OMIM:180295 ORPHA:83469 ORPHA:2796 ORPHA:805 OMIM:613254 ORPHA:79474 ORPHA:659 OMIM:158320 ORPHA:587 OMIM:617075 OMIM:178500 ORPHA:2126 OMIM:618913 OMIM:617388 OMIM:618803 ORPHA:2591 ORPHA:1359 OMIM:305600 OMIM:616568 OMIM:182280 ORPHA:251636 OMIM:610644 ORPHA:137605 ORPHA:2869 OMIM:151623 OMIM:607107 OMIM:606690 ORPHA:538 OMIM:191100 ORPHA:902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.