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:0040127	HP:0040127	Abnormal sweat homeostasis	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated		4
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1		1371
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2		67
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1		61
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0040127	HP:0040127	Abnormal sweat homeostasis	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0040127	HP:0040128	Abnormal sweat electrolytes	1	CL E G H
HP:0040127	HP:0012236	Elevated sweat chloride	1	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated		4
HP:0040127	HP:0012236	Elevated sweat chloride	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0040127	HP:0012236	Elevated sweat chloride	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0040127	HP:0012236	Elevated sweat chloride	1	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	HP:0040283 - Occasional	1371
HP:0040127	HP:0012236	Elevated sweat chloride	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0040127	HP:0012236	Elevated sweat chloride	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0040127	HP:0012236	Elevated sweat chloride	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0040127	HP:0012236	Elevated sweat chloride	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0040127	HP:0012236	Elevated sweat chloride	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0040127	HP:0012236	Elevated sweat chloride	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0040127	HP:0012236	Elevated sweat chloride	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0040127	HP:0012236	Elevated sweat chloride	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0040127	HP:0012236	Elevated sweat chloride	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0040127	HP:0012236	Elevated sweat chloride	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0040127	HP:0012236	Elevated sweat chloride	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0040127	HP:0012236	Elevated sweat chloride	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0040127	HP:0012236	Elevated sweat chloride	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0040127	HP:0012236	Elevated sweat chloride	1	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2	HP:0040283 - Occasional	67
HP:0040127	HP:0012236	Elevated sweat chloride	1	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	HP:0040283 - Occasional	61
HP:0040127	HP:0012236	Elevated sweat chloride	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0040127	HP:0012236	Elevated sweat chloride	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0040127	HP:0012236	Elevated sweat chloride	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0040127	HP:0012236	Elevated sweat chloride	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0040127	HP:0012236	Elevated sweat chloride	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0040127	HP:0012236	Elevated sweat chloride	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0040127	HP:0012236	Elevated sweat chloride	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0040127	HP:0012236	Elevated sweat chloride	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13