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:0012288	HP:0012288	Neoplasm of head and neck	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0012288	HP:0012288	Neoplasm of head and neck	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0012288	HP:0012288	Neoplasm of head and neck	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0012288	HP:0012288	Neoplasm of head and neck	0	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus		2
HP:0012288	HP:0012288	Neoplasm of head and neck	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0012288	HP:0012288	Neoplasm of head and neck	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0012288	HP:0012288	Neoplasm of head and neck	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0012288	HP:0012288	Neoplasm of head and neck	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0012288	HP:0012288	Neoplasm of head and neck	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0012288	HP:0012288	Neoplasm of head and neck	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0012288	HP:0012288	Neoplasm of head and neck	0	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus		1
HP:0012288	HP:0012288	Neoplasm of head and neck	0	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma		88
HP:0012288	HP:0012288	Neoplasm of head and neck	0	DCC CL E G H	1630	2701	OMIM:133239	Esophageal cancer, somatic		36
HP:0012288	HP:0012288	Neoplasm of head and neck	0	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus
HP:0012288	HP:0012288	Neoplasm of head and neck	0	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer		301
HP:0012288	HP:0012288	Neoplasm of head and neck	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	9
HP:0012288	HP:0012288	Neoplasm of head and neck	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	58
HP:0012288	HP:0012288	Neoplasm of head and neck	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor		327
HP:0012288	HP:0012288	Neoplasm of head and neck	0	LZTS1 CL E G H	11178	13861	OMIM:133239	Esophageal cancer, somatic		2
HP:0012288	HP:0012288	Neoplasm of head and neck	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0012288	HP:0012288	Neoplasm of head and neck	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	3
HP:0012288	HP:0012288	Neoplasm of head and neck	0	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus		13
HP:0012288	HP:0012288	Neoplasm of head and neck	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0012288	HP:0012288	Neoplasm of head and neck	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012288	HP:0012288	Neoplasm of head and neck	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor		337
HP:0012288	HP:0012288	Neoplasm of head and neck	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0012288	HP:0012288	Neoplasm of head and neck	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0012288	HP:0012288	Neoplasm of head and neck	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome		80
HP:0012288	HP:0012288	Neoplasm of head and neck	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0012288	HP:0012288	Neoplasm of head and neck	0	RNF6 CL E G H	6049	10069	OMIM:133239	Esophageal cancer, somatic		3
HP:0012288	HP:0012288	Neoplasm of head and neck	0	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus		3
HP:0012288	HP:0012288	Neoplasm of head and neck	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor		304
HP:0012288	HP:0012288	Neoplasm of head and neck	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor		237
HP:0012288	HP:0012288	Neoplasm of head and neck	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor		147
HP:0012288	HP:0012288	Neoplasm of head and neck	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0012288	HP:0012288	Neoplasm of head and neck	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0012288	HP:0012288	Neoplasm of head and neck	0	TGFBR2 CL E G H	7048	11773	OMIM:133239	Esophageal cancer, somatic		253
HP:0012288	HP:0012288	Neoplasm of head and neck	0	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus		253
HP:0012288	HP:0012288	Neoplasm of head and neck	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0012288	HP:0012288	Neoplasm of head and neck	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0012288	HP:0012288	Neoplasm of head and neck	0	WWOX CL E G H	51741	12799	OMIM:133239	Esophageal cancer, somatic		149
HP:0012288	HP:0012288	Neoplasm of head and neck	0	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus		149
HP:0012288	HP:0030429	Juvenile nasopharyngeal angiofibroma	1	CL E G H
HP:0012288	HP:0100751	Esophageal neoplasm	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional	7
HP:0012288	HP:0100751	Esophageal neoplasm	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0012288	HP:0100751	Esophageal neoplasm	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0012288	HP:0100751	Esophageal neoplasm	1	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus		2
HP:0012288	HP:0100751	Esophageal neoplasm	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040284 - Very rare	314
HP:0012288	HP:0100751	Esophageal neoplasm	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional	2
HP:0012288	HP:0100751	Esophageal neoplasm	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040281 - Very frequent	678
HP:0012288	HP:0100751	Esophageal neoplasm	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040281 - Very frequent	18
HP:0012288	HP:0100751	Esophageal neoplasm	1	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus		1
HP:0012288	HP:0100751	Esophageal neoplasm	1	DCC CL E G H	1630	2701	OMIM:133239	Esophageal cancer, somatic		36
HP:0012288	HP:0100751	Esophageal neoplasm	1	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus
HP:0012288	HP:0100751	Esophageal neoplasm	1	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer	HP:0040283 - Occasional	301
HP:0012288	HP:0100751	Esophageal neoplasm	1	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	327
HP:0012288	HP:0100751	Esophageal neoplasm	1	LZTS1 CL E G H	11178	13861	OMIM:133239	Esophageal cancer, somatic		2
HP:0012288	HP:0100751	Esophageal neoplasm	1	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus		13
HP:0012288	HP:0100751	Esophageal neoplasm	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0012288	HP:0012289	Facial neoplasm	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012288	HP:0100751	Esophageal neoplasm	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012288	HP:0100751	Esophageal neoplasm	1	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	337
HP:0012288	HP:0100751	Esophageal neoplasm	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0012288	HP:0012289	Facial neoplasm	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0012288	HP:0100751	Esophageal neoplasm	1	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0012288	HP:0100751	Esophageal neoplasm	1	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040281 - Very frequent	80
HP:0012288	HP:0100751	Esophageal neoplasm	1	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0012288	HP:0100751	Esophageal neoplasm	1	RNF6 CL E G H	6049	10069	OMIM:133239	Esophageal cancer, somatic		3
HP:0012288	HP:0100751	Esophageal neoplasm	1	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus		3
HP:0012288	HP:0100751	Esophageal neoplasm	1	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	304
HP:0012288	HP:0100751	Esophageal neoplasm	1	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	237
HP:0012288	HP:0100751	Esophageal neoplasm	1	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	147
HP:0012288	HP:0100751	Esophageal neoplasm	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0012288	HP:0012289	Facial neoplasm	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0012288	HP:0100751	Esophageal neoplasm	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0012288	HP:0100751	Esophageal neoplasm	1	TGFBR2 CL E G H	7048	11773	OMIM:133239	Esophageal cancer, somatic		253
HP:0012288	HP:0100751	Esophageal neoplasm	1	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus		253
HP:0012288	HP:0100751	Esophageal neoplasm	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0012288	HP:0100751	Esophageal neoplasm	1	WWOX CL E G H	51741	12799	OMIM:133239	Esophageal cancer, somatic		149
HP:0012288	HP:0100751	Esophageal neoplasm	1	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus		149
HP:0012288	HP:0031463	Esophageal squamous papilloma	2	CL E G H
HP:0012288	HP:0030792	Jaw neoplasm	2	CL E G H
HP:0012288	HP:0011459	Esophageal carcinoma	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0012288	HP:0011459	Esophageal carcinoma	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0012288	HP:0011459	Esophageal carcinoma	2	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus	.	2
HP:0012288	HP:0100580	Barrett esophagus	2	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus	.	2
HP:0012288	HP:0100580	Barrett esophagus	2	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus	.	1
HP:0012288	HP:0011459	Esophageal carcinoma	2	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus	.	1
HP:0012288	HP:0011459	Esophageal carcinoma	2	DCC CL E G H	1630	2701	OMIM:133239	Esophageal cancer, somatic	.	36
HP:0012288	HP:0011459	Esophageal carcinoma	2	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent
HP:0012288	HP:0100580	Barrett esophagus	2	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer	HP:0040283 - Occasional	301
HP:0012288	HP:0011459	Esophageal carcinoma	2	LZTS1 CL E G H	11178	13861	OMIM:133239	Esophageal cancer, somatic	.	2
HP:0012288	HP:0100580	Barrett esophagus	2	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus	.	13
HP:0012288	HP:0011459	Esophageal carcinoma	2	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus	.	13
HP:0012288	HP:0100580	Barrett esophagus	2	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0012288	HP:0012720	Neoplasm of the nose	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012288	HP:0012720	Neoplasm of the nose	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0012288	HP:0100580	Barrett esophagus	2	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25
HP:0012288	HP:0011459	Esophageal carcinoma	2	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer	.	80
HP:0012288	HP:0011459	Esophageal carcinoma	2	RNF6 CL E G H	6049	10069	OMIM:133239	Esophageal cancer, somatic	.	3
HP:0012288	HP:0011459	Esophageal carcinoma	2	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent	3
HP:0012288	HP:0011459	Esophageal carcinoma	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0012288	HP:0012720	Neoplasm of the nose	2	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0012288	HP:0011459	Esophageal carcinoma	2	TGFBR2 CL E G H	7048	11773	OMIM:133239	Esophageal cancer, somatic	.	253
HP:0012288	HP:0011459	Esophageal carcinoma	2	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent	253
HP:0012288	HP:0011459	Esophageal carcinoma	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0012288	HP:0011459	Esophageal carcinoma	2	WWOX CL E G H	51741	12799	OMIM:133239	Esophageal cancer, somatic	.	149
HP:0012288	HP:0011459	Esophageal carcinoma	2	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent	149
HP:0012288	HP:0030072	Paranasal sinus neoplasm	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012288	HP:0030072	Paranasal sinus neoplasm	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134