Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	LMNA CL E G H	4000	79474		ORPHA	1	1347	6636	150330
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	LMNA CL E G H	4000	79474		ORPHA	1	1486	6636	150330
HP:0100833	HP:0012737	Small intestinal polyp	1	LMNA CL E G H	4000	79474		ORPHA	1	1347	6636	150330
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	LMNA CL E G H	4000	79474		ORPHA	1	1486	6636	150330
HP:0100833	HP:0006722	Small intestine carcinoid	1	LMNA CL E G H	4000	79474		ORPHA	1	1486	6636	150330
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	LMNA CL E G H	4000	79474		ORPHA	1	1347	6636	150330
HP:0100833	HP:0006722	Small intestine carcinoid	1	LMNA CL E G H	4000	79474		ORPHA	1	1347	6636	150330
HP:0100833	HP:0012737	Small intestinal polyp	1	LMNA CL E G H	4000	79474		ORPHA	1	1486	6636	150330
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	LMNA CL E G H	4000	79474		ORPHA	1	1347	6636	150330
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	LMNA CL E G H	4000	79474		ORPHA	1	1347	6636	150330
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	LMNA CL E G H	4000	79474		ORPHA	1	1486	6636	150330
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	LMNA CL E G H	4000	79474		ORPHA	1	1347	6636	150330
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	LMNA CL E G H	4000	79474		ORPHA	1	1486	6636	150330
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	LMNA CL E G H	4000	79474		ORPHA	1	1486	6636	150330
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	KIT CL E G H	3815	44890		ORPHA	0	1735	6342	164920
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	KIT CL E G H	3815	44890		ORPHA	0	1490	6342	164920
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	PDGFRA CL E G H	5156	44890		ORPHA	0	1680	8803	173490
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	PDGFRA CL E G H	5156	44890		ORPHA	0	1929	8803	173490
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	SDHA CL E G H	6389	44890		ORPHA	0	1778	10680	600857
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	SDHA CL E G H	6389	44890		ORPHA	0	1545	10680	600857
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	SDHB CL E G H	6390	44890		ORPHA	0	824	10681	185470
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	SDHB CL E G H	6390	44890		ORPHA	0	926	10681	185470
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	SDHC CL E G H	6391	44890		ORPHA	0	575	10682	602413
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	SDHC CL E G H	6391	44890		ORPHA	0	526	10682	602413
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1820	11389	602216
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1945	11389	602216
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	2391	12791	604611
HP:0100833	HP:0100833	Neoplasm of the small intestine	0	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	1947	12791	604611
HP:0100833	HP:0006722	Small intestine carcinoid	1	KIT CL E G H	3815	44890		ORPHA	0	1490	6342	164920
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	KIT CL E G H	3815	44890		ORPHA	0	1490	6342	164920
HP:0100833	HP:0012737	Small intestinal polyp	1	KIT CL E G H	3815	44890		ORPHA	0	1735	6342	164920
HP:0100833	HP:0012737	Small intestinal polyp	1	KIT CL E G H	3815	44890		ORPHA	0	1490	6342	164920
HP:0100833	HP:0006722	Small intestine carcinoid	1	KIT CL E G H	3815	44890		ORPHA	0	1735	6342	164920
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	KIT CL E G H	3815	44890		ORPHA	0	1735	6342	164920
HP:0100833	HP:0012737	Small intestinal polyp	1	PDGFRA CL E G H	5156	44890		ORPHA	0	1680	8803	173490
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	PDGFRA CL E G H	5156	44890		ORPHA	0	1929	8803	173490
HP:0100833	HP:0006722	Small intestine carcinoid	1	PDGFRA CL E G H	5156	44890		ORPHA	0	1929	8803	173490
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	PDGFRA CL E G H	5156	44890		ORPHA	0	1680	8803	173490
HP:0100833	HP:0006722	Small intestine carcinoid	1	PDGFRA CL E G H	5156	44890		ORPHA	0	1680	8803	173490
HP:0100833	HP:0012737	Small intestinal polyp	1	PDGFRA CL E G H	5156	44890		ORPHA	0	1929	8803	173490
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	SDHA CL E G H	6389	44890		ORPHA	0	1545	10680	600857
HP:0100833	HP:0006722	Small intestine carcinoid	1	SDHA CL E G H	6389	44890		ORPHA	0	1545	10680	600857
HP:0100833	HP:0012737	Small intestinal polyp	1	SDHA CL E G H	6389	44890		ORPHA	0	1778	10680	600857
HP:0100833	HP:0012737	Small intestinal polyp	1	SDHA CL E G H	6389	44890		ORPHA	0	1545	10680	600857
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	SDHA CL E G H	6389	44890		ORPHA	0	1778	10680	600857
HP:0100833	HP:0006722	Small intestine carcinoid	1	SDHA CL E G H	6389	44890		ORPHA	0	1778	10680	600857
HP:0100833	HP:0012737	Small intestinal polyp	1	SDHB CL E G H	6390	44890		ORPHA	0	824	10681	185470
HP:0100833	HP:0006722	Small intestine carcinoid	1	SDHB CL E G H	6390	44890		ORPHA	0	926	10681	185470
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	SDHB CL E G H	6390	44890		ORPHA	0	926	10681	185470
HP:0100833	HP:0006722	Small intestine carcinoid	1	SDHB CL E G H	6390	44890		ORPHA	0	824	10681	185470
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	SDHB CL E G H	6390	44890		ORPHA	0	824	10681	185470
HP:0100833	HP:0012737	Small intestinal polyp	1	SDHB CL E G H	6390	44890		ORPHA	0	926	10681	185470
HP:0100833	HP:0006722	Small intestine carcinoid	1	SDHC CL E G H	6391	44890		ORPHA	0	526	10682	602413
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	SDHC CL E G H	6391	44890		ORPHA	0	526	10682	602413
HP:0100833	HP:0012737	Small intestinal polyp	1	SDHC CL E G H	6391	44890		ORPHA	0	575	10682	602413
HP:0100833	HP:0012737	Small intestinal polyp	1	SDHC CL E G H	6391	44890		ORPHA	0	526	10682	602413
HP:0100833	HP:0006722	Small intestine carcinoid	1	SDHC CL E G H	6391	44890		ORPHA	0	575	10682	602413
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	SDHC CL E G H	6391	44890		ORPHA	0	575	10682	602413
HP:0100833	HP:0012737	Small intestinal polyp	1	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1820	11389	602216
HP:0100833	HP:0006722	Small intestine carcinoid	1	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1945	11389	602216
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1945	11389	602216
HP:0100833	HP:0006722	Small intestine carcinoid	1	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1820	11389	602216
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1820	11389	602216
HP:0100833	HP:0012737	Small intestinal polyp	1	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1945	11389	602216
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	1947	12791	604611
HP:0100833	HP:0006722	Small intestine carcinoid	1	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	1947	12791	604611
HP:0100833	HP:0012737	Small intestinal polyp	1	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	2391	12791	604611
HP:0100833	HP:0012737	Small intestinal polyp	1	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	1947	12791	604611
HP:0100833	HP:0040274	Adenocarcinoma of the small intestine	1	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	2391	12791	604611
HP:0100833	HP:0006722	Small intestine carcinoid	1	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	2391	12791	604611
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	KIT CL E G H	3815	44890		ORPHA	0	1490	6342	164920
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	KIT CL E G H	3815	44890		ORPHA	0	1735	6342	164920
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	KIT CL E G H	3815	44890		ORPHA	0	1735	6342	164920
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	KIT CL E G H	3815	44890		ORPHA	0	1490	6342	164920
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	KIT CL E G H	3815	44890		ORPHA	0	1490	6342	164920
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	KIT CL E G H	3815	44890		ORPHA	0	1735	6342	164920
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	PDGFRA CL E G H	5156	44890		ORPHA	0	1680	8803	173490
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	PDGFRA CL E G H	5156	44890		ORPHA	0	1680	8803	173490
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	PDGFRA CL E G H	5156	44890		ORPHA	0	1929	8803	173490
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	PDGFRA CL E G H	5156	44890		ORPHA	0	1680	8803	173490
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	PDGFRA CL E G H	5156	44890		ORPHA	0	1929	8803	173490
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	PDGFRA CL E G H	5156	44890		ORPHA	0	1929	8803	173490
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	SDHA CL E G H	6389	44890		ORPHA	0	1545	10680	600857
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	SDHA CL E G H	6389	44890		ORPHA	0	1778	10680	600857
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	SDHA CL E G H	6389	44890		ORPHA	0	1778	10680	600857
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	SDHA CL E G H	6389	44890		ORPHA	0	1545	10680	600857
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	SDHA CL E G H	6389	44890		ORPHA	0	1545	10680	600857
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	SDHA CL E G H	6389	44890		ORPHA	0	1778	10680	600857
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	SDHB CL E G H	6390	44890		ORPHA	0	824	10681	185470
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	SDHB CL E G H	6390	44890		ORPHA	0	824	10681	185470
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	SDHB CL E G H	6390	44890		ORPHA	0	926	10681	185470
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	SDHB CL E G H	6390	44890		ORPHA	0	824	10681	185470
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	SDHB CL E G H	6390	44890		ORPHA	0	926	10681	185470
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	SDHB CL E G H	6390	44890		ORPHA	0	926	10681	185470
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	SDHC CL E G H	6391	44890		ORPHA	0	526	10682	602413
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	SDHC CL E G H	6391	44890		ORPHA	0	575	10682	602413
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	SDHC CL E G H	6391	44890		ORPHA	0	575	10682	602413
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	SDHC CL E G H	6391	44890		ORPHA	0	526	10682	602413
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	SDHC CL E G H	6391	44890		ORPHA	0	526	10682	602413
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	SDHC CL E G H	6391	44890		ORPHA	0	575	10682	602413
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1820	11389	602216
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1820	11389	602216
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1945	11389	602216
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1820	11389	602216
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1945	11389	602216
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	1945	11389	602216
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	1947	12791	604611
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	2391	12791	604611
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	2391	12791	604611
HP:0100833	HP:0006771	Duodenal adenocarcinoma	2	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	1947	12791	604611
HP:0100833	HP:0030411	Jejunal adenocarcinoma	2	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	1947	12791	604611
HP:0100833	HP:0030412	Ileal adenocarcinoma	2	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type	ORPHA	0	2391	12791	604611