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:0100723	HP:0100723	Gastrointestinal stroma tumor	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	38
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	4
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040281 - Very frequent	327
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.	327
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	7
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	11
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040281 - Very frequent	337
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	PDGFRA CL E G H	5156	8803	OMIM:175510	Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial		337
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040281 - Very frequent	304
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040281 - Very frequent	237
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.	237
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040281 - Very frequent	237
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	HP:0040283 - Occasional	237
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040281 - Very frequent	147
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.	147
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040281 - Very frequent	147
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040281 - Very frequent	129
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	12
HP:0100723	HP:0100723	Gastrointestinal stroma tumor	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1