Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to		276
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma		7642
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to		37
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia		5
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to		6
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma		164
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to		257
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to		77
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to		199
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to		37
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma		73
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma		4
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis		55
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to		2
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to		196
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome		1819
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome		2162
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome		2232
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	MST1R CL E G H	4486	7381	OMIM:617075	Nasopharyngeal carcinoma, susceptibility to, 3		2
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP		37
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis		144
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis		28
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to		162
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma		2
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to		1
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to		138
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	RB1 CL E G H	5925	9884	OMIM:182280	Small cell cancer of the lung		365
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma		1
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma		7
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to		3
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis		13
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma		1
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TP53 CL E G H	7157	11998	OMIM:607107	Nasopharyngeal carcinoma		911
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma		2
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma		2
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TSC1 CL E G H	7248	12362	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		1090
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TSC2 CL E G H	7249	12363	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		2738
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor		177
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma		177
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0100606	HP:0100606	Neoplasm of the respiratory system	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0100606	HP:0100526	Neoplasm of the lung	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0100606	HP:0100526	Neoplasm of the lung	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0100606	HP:0100526	Neoplasm of the lung	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0100606	HP:0100526	Neoplasm of the lung	1	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0100606	HP:0100526	Neoplasm of the lung	1	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to		276
HP:0100606	HP:0100526	Neoplasm of the lung	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7642
HP:0100606	HP:0100526	Neoplasm of the lung	1	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to		37
HP:0100606	HP:0100605	Neoplasm of the larynx	1	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040284 - Very rare	5
HP:0100606	HP:0100526	Neoplasm of the lung	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0100606	HP:0100605	Neoplasm of the larynx	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100606	HP:0100526	Neoplasm of the lung	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100606	HP:0100526	Neoplasm of the lung	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100606	HP:0100605	Neoplasm of the larynx	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100606	HP:0100526	Neoplasm of the lung	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0100606	HP:0100526	Neoplasm of the lung	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0100606	HP:0100526	Neoplasm of the lung	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0100606	HP:0100526	Neoplasm of the lung	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0100606	HP:0100526	Neoplasm of the lung	1	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to		6
HP:0100606	HP:0100526	Neoplasm of the lung	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0100606	HP:0100527	Neoplasia of the pleura	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0100606	HP:0100527	Neoplasia of the pleura	1	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0100606	HP:0100526	Neoplasm of the lung	1	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0100606	HP:0100527	Neoplasia of the pleura	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100606	HP:0100526	Neoplasm of the lung	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100606	HP:0100526	Neoplasm of the lung	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	164
HP:0100606	HP:0100526	Neoplasm of the lung	1	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to		257
HP:0100606	HP:0100526	Neoplasm of the lung	1	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to		77
HP:0100606	HP:0100526	Neoplasm of the lung	1	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to		199
HP:0100606	HP:0100526	Neoplasm of the lung	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional
HP:0100606	HP:0100526	Neoplasm of the lung	1	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to		37
HP:0100606	HP:0100526	Neoplasm of the lung	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	73
HP:0100606	HP:0100526	Neoplasm of the lung	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	4
HP:0100606	HP:0100526	Neoplasm of the lung	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	55
HP:0100606	HP:0100526	Neoplasm of the lung	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100606	HP:0100526	Neoplasm of the lung	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100606	HP:0100526	Neoplasm of the lung	1	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to		2
HP:0100606	HP:0100526	Neoplasm of the lung	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0100606	HP:0100527	Neoplasia of the pleura	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0100606	HP:0100526	Neoplasm of the lung	1	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to		196
HP:0100606	HP:0100526	Neoplasm of the lung	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040282 - Frequent	645
HP:0100606	HP:0100526	Neoplasm of the lung	1	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to
HP:0100606	HP:0100526	Neoplasm of the lung	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional	22
HP:0100606	HP:0100605	Neoplasm of the larynx	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0100606	HP:0100526	Neoplasm of the lung	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0100606	HP:0100605	Neoplasm of the larynx	1	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome		1819
HP:0100606	HP:0100605	Neoplasm of the larynx	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0100606	HP:0100605	Neoplasm of the larynx	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0100606	HP:0100605	Neoplasm of the larynx	1	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome		2162
HP:0100606	HP:0100605	Neoplasm of the larynx	1	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome		2232
HP:0100606	HP:0100630	Neoplasia of the nasopharynx	1	MST1R CL E G H	4486	7381	OMIM:617075	Nasopharyngeal carcinoma, susceptibility to, 3		2
HP:0100606	HP:0100526	Neoplasm of the lung	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0100606	HP:0100526	Neoplasm of the lung	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0100606	HP:0100527	Neoplasia of the pleura	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional
HP:0100606	HP:0100526	Neoplasm of the lung	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0100606	HP:0100605	Neoplasm of the larynx	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0100606	HP:0100605	Neoplasm of the larynx	1	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP		37
HP:0100606	HP:0100526	Neoplasm of the lung	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent	144
HP:0100606	HP:0100526	Neoplasm of the lung	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0100606	HP:0100630	Neoplasia of the nasopharynx	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100606	HP:0100526	Neoplasm of the lung	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent	28
HP:0100606	HP:0100526	Neoplasm of the lung	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional
HP:0100606	HP:0100526	Neoplasm of the lung	1	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to		162
HP:0100606	HP:0100605	Neoplasm of the larynx	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0100606	HP:0100526	Neoplasm of the lung	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0100606	HP:0100526	Neoplasm of the lung	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0100606	HP:0100526	Neoplasm of the lung	1	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to		1
HP:0100606	HP:0100526	Neoplasm of the lung	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0100606	HP:0100630	Neoplasia of the nasopharynx	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100606	HP:0100526	Neoplasm of the lung	1	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to		138
HP:0100606	HP:0100526	Neoplasm of the lung	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0100606	HP:0100526	Neoplasm of the lung	1	RB1 CL E G H	5925	9884	OMIM:182280	Small cell cancer of the lung	.	365
HP:0100606	HP:0100526	Neoplasm of the lung	1	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040284 - Very rare	1
HP:0100606	HP:0100526	Neoplasm of the lung	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7
HP:0100606	HP:0100605	Neoplasm of the larynx	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0100606	HP:0100526	Neoplasm of the lung	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0100606	HP:0100526	Neoplasm of the lung	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0100606	HP:0100526	Neoplasm of the lung	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0100606	HP:0100526	Neoplasm of the lung	1	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to		3
HP:0100606	HP:0100526	Neoplasm of the lung	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	13
HP:0100606	HP:0100526	Neoplasm of the lung	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0100606	HP:0100527	Neoplasia of the pleura	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional	1
HP:0100606	HP:0100526	Neoplasm of the lung	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1
HP:0100606	HP:0100630	Neoplasia of the nasopharynx	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0100606	HP:0100526	Neoplasm of the lung	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0100606	HP:0100526	Neoplasm of the lung	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0100606	HP:0100526	Neoplasm of the lung	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0100606	HP:0100526	Neoplasm of the lung	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0100606	HP:0100526	Neoplasm of the lung	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0100606	HP:0100605	Neoplasm of the larynx	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0100606	HP:0100526	Neoplasm of the lung	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0100606	HP:0100630	Neoplasia of the nasopharynx	1	TP53 CL E G H	7157	11998	OMIM:607107	Nasopharyngeal carcinoma	.	911
HP:0100606	HP:0100526	Neoplasm of the lung	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0100606	HP:0100526	Neoplasm of the lung	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0100606	HP:0100526	Neoplasm of the lung	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional	151
HP:0100606	HP:0100526	Neoplasm of the lung	1	TSC1 CL E G H	7248	12362	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		1090
HP:0100606	HP:0100526	Neoplasm of the lung	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0100606	HP:0100526	Neoplasm of the lung	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100606	HP:0100526	Neoplasm of the lung	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100606	HP:0100526	Neoplasm of the lung	1	TSC2 CL E G H	7249	12363	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		2738
HP:0100606	HP:0100526	Neoplasm of the lung	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0100606	HP:0100526	Neoplasm of the lung	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100606	HP:0100526	Neoplasm of the lung	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100606	HP:0100526	Neoplasm of the lung	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional	310
HP:0100606	HP:0100526	Neoplasm of the lung	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional	177
HP:0100606	HP:0100526	Neoplasm of the lung	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	177
HP:0100606	HP:0100526	Neoplasm of the lung	1	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040284 - Very rare
HP:0100606	HP:0100526	Neoplasm of the lung	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0100606	HP:0031474	Pulmonary chondroma	2	CL E G H
HP:0100606	HP:0100636	Pulmonary paraglioma	2	CL E G H
HP:0100606	HP:0100002	Pleural mesothelioma	2	CL E G H
HP:0100606	HP:0011953	Pulmonary lymphoma	2	CL E G H
HP:0100606	HP:0010616	Lung fibroma	2	CL E G H
HP:0100606	HP:0030357	Small cell lung carcinoma	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to	.	276
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to		276
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to		37
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to	.	6
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to		6
HP:0100606	HP:0100528	Pleuropulmonary blastoma	2	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent	670
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0100606	HP:0100528	Pleuropulmonary blastoma	2	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0100606	HP:0100528	Pleuropulmonary blastoma	2	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to		257
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to	.	257
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to		77
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to	.	77
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to		199
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to	.	199
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to		37
HP:0100606	HP:0012798	Pulmonary lymphangiomyomatosis	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0100606	HP:0012798	Pulmonary lymphangiomyomatosis	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to	.	2
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to		2
HP:0100606	HP:0100528	Pleuropulmonary blastoma	2	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to	.	196
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to		196
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to	.
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to
HP:0100606	HP:0012118	Laryngeal carcinoma	2	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0100606	HP:0012118	Laryngeal carcinoma	2	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	1819
HP:0100606	HP:0012118	Laryngeal carcinoma	2	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2162
HP:0100606	HP:0012118	Laryngeal carcinoma	2	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0100606	HP:0012118	Laryngeal carcinoma	2	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2232
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0100606	HP:0033001	Laryngeal papilloma	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0100606	HP:0033001	Laryngeal papilloma	2	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP		37
HP:0100606	HP:0030357	Small cell lung carcinoma	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0100606	HP:0100638	Neoplasm of the pharynx	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100606	HP:0012720	Neoplasm of the nose	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to		162
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to	.	162
HP:0100606	HP:0033001	Laryngeal papilloma	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to		1
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to	.	1
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0100606	HP:0100638	Neoplasm of the pharynx	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100606	HP:0012720	Neoplasm of the nose	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to		138
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to	.	138
HP:0100606	HP:0012118	Laryngeal carcinoma	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0100606	HP:0030357	Small cell lung carcinoma	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to	.	3
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to		3
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0100606	HP:0012720	Neoplasm of the nose	2	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0100606	HP:0100552	Neoplasm of the tracheobronchial system	2	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0100606	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0100606	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC1 CL E G H	7248	12362	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS	.	1090
HP:0100606	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0100606	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100606	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC2 CL E G H	7249	12363	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS	.	2738
HP:0100606	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0100606	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0100606	HP:0012798	Pulmonary lymphangiomyomatosis	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100606	HP:0030358	Non-small cell lung carcinoma	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0100606	HP:0030360	Large cell lung carcinoma	3	CL E G H
HP:0100606	HP:0030359	Squamous cell lung carcinoma	3	CL E G H
HP:0100606	HP:0100551	Neoplasm of the trachea	3	CL E G H
HP:0100606	HP:0030077	Bronchial neoplasm	3	CL E G H
HP:0100606	HP:0030078	Lung adenocarcinoma	3	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome	.	184
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to	.	276
HP:0100606	HP:0030078	Lung adenocarcinoma	3	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to	.	276
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0100606	HP:0030078	Lung adenocarcinoma	3	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0100606	HP:0030078	Lung adenocarcinoma	3	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0100606	HP:0006524	Tracheobronchial leiomyomatosis	3	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0100606	HP:0006524	Tracheobronchial leiomyomatosis	3	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18
HP:0100606	HP:0030078	Lung adenocarcinoma	3	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to	.	6
HP:0100606	HP:0030078	Lung adenocarcinoma	3	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to	.	6
HP:0100606	HP:0100528	Pleuropulmonary blastoma	3	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent	670
HP:0100606	HP:0100528	Pleuropulmonary blastoma	3	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0100606	HP:0100528	Pleuropulmonary blastoma	3	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to	.	257
HP:0100606	HP:0030078	Lung adenocarcinoma	3	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to	.	257
HP:0100606	HP:0030078	Lung adenocarcinoma	3	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to	.	77
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to	.	77
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to	.	199
HP:0100606	HP:0030078	Lung adenocarcinoma	3	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to	.	199
HP:0100606	HP:0030078	Lung adenocarcinoma	3	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to	.	2
HP:0100606	HP:0030078	Lung adenocarcinoma	3	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to	.	2
HP:0100606	HP:0100528	Pleuropulmonary blastoma	3	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to	.	196
HP:0100606	HP:0030078	Lung adenocarcinoma	3	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to	.	196
HP:0100606	HP:0030078	Lung adenocarcinoma	3	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to	.
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to	.
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic	.	133
HP:0100606	HP:0030078	Lung adenocarcinoma	3	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0100606	HP:0030072	Paranasal sinus neoplasm	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100606	HP:0030078	Lung adenocarcinoma	3	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to	.	162
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to	.	162
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to	.	1
HP:0100606	HP:0030078	Lung adenocarcinoma	3	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to	.	1
HP:0100606	HP:0030078	Lung adenocarcinoma	3	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0100606	HP:0030072	Paranasal sinus neoplasm	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100606	HP:0030078	Lung adenocarcinoma	3	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to	.	138
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to	.	138
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic	.	10
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic	.	33
HP:0100606	HP:0030078	Lung adenocarcinoma	3	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to	.	3
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to	.	3
HP:0100606	HP:0030078	Lung adenocarcinoma	3	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0100606	HP:0006519	Alveolar cell carcinoma	3	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic	.	238
HP:0100606	HP:0030078	Lung adenocarcinoma	3	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0100606	HP:0030078	Lung adenocarcinoma	3	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0100606	HP:0030078	Lung adenocarcinoma	3	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0100606	HP:0033002	Bronchial papilloma	4	CL E G H
HP:0100606	HP:0033003	Tracheal papilloma	4	CL E G H