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:0001058	HP:0001058	Poor wound healing	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0001058	HP:0001058	Poor wound healing	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0001058	HP:0001058	Poor wound healing	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0001058	HP:0001058	Poor wound healing	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0001058	HP:0001058	Poor wound healing	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001058	HP:0001058	Poor wound healing	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001058	HP:0001058	Poor wound healing	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0001058	HP:0001058	Poor wound healing	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0001058	HP:0001058	Poor wound healing	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001058	HP:0001058	Poor wound healing	0	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0001058	HP:0001058	Poor wound healing	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0001058	HP:0001058	Poor wound healing	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0001058	HP:0001058	Poor wound healing	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0001058	HP:0001058	Poor wound healing	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	373
HP:0001058	HP:0001058	Poor wound healing	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0001058	HP:0001058	Poor wound healing	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0001058	HP:0001058	Poor wound healing	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0001058	HP:0001058	Poor wound healing	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0001058	HP:0001058	Poor wound healing	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	660
HP:0001058	HP:0001058	Poor wound healing	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660
HP:0001058	HP:0001058	Poor wound healing	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	325
HP:0001058	HP:0001058	Poor wound healing	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0001058	HP:0001058	Poor wound healing	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0001058	HP:0001058	Poor wound healing	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0001058	HP:0001058	Poor wound healing	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040282 - Frequent	303
HP:0001058	HP:0001058	Poor wound healing	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0001058	HP:0001058	Poor wound healing	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0001058	HP:0001058	Poor wound healing	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0001058	HP:0001058	Poor wound healing	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0001058	HP:0001058	Poor wound healing	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0001058	HP:0001058	Poor wound healing	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001058	HP:0001058	Poor wound healing	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0001058	HP:0001058	Poor wound healing	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0001058	HP:0001058	Poor wound healing	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0001058	HP:0001058	Poor wound healing	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0001058	HP:0001058	Poor wound healing	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001058	HP:0001058	Poor wound healing	0	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome	HP:0040281 - Very frequent	9
HP:0001058	HP:0001058	Poor wound healing	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII		19
HP:0001058	HP:0001058	Poor wound healing	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040284 - Very rare	39
HP:0001058	HP:0001058	Poor wound healing	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0001058	HP:0001058	Poor wound healing	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0001058	HP:0001058	Poor wound healing	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001058	HP:0001058	Poor wound healing	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001058	HP:0001058	Poor wound healing	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001058	HP:0001058	Poor wound healing	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7