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:0025245	HP:0025245	Cutaneous cyst	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0025245	HP:0025245	Cutaneous cyst	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0025245	HP:0025245	Cutaneous cyst	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0025245	HP:0025245	Cutaneous cyst	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0025245	HP:0025245	Cutaneous cyst	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0025245	HP:0025245	Cutaneous cyst	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0025245	HP:0025245	Cutaneous cyst	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0025245	HP:0025245	Cutaneous cyst	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome		1003
HP:0025245	HP:0025245	Cutaneous cyst	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0025245	HP:0025245	Cutaneous cyst	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0025245	HP:0025245	Cutaneous cyst	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0025245	HP:0025245	Cutaneous cyst	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	27
HP:0025245	HP:0025245	Cutaneous cyst	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	23
HP:0025245	HP:0025245	Cutaneous cyst	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0025245	HP:0025245	Cutaneous cyst	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease		173
HP:0025245	HP:0025245	Cutaneous cyst	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	41
HP:0025245	HP:0025245	Cutaneous cyst	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	4
HP:0025245	HP:0025245	Cutaneous cyst	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0025245	HP:0025245	Cutaneous cyst	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease		2
HP:0025245	HP:0025245	Cutaneous cyst	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease		6
HP:0025245	HP:0025245	Cutaneous cyst	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease		2
HP:0025245	HP:0025245	Cutaneous cyst	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0025245	HP:0025245	Cutaneous cyst	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0025245	HP:0025245	Cutaneous cyst	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0025245	HP:0025245	Cutaneous cyst	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0025245	HP:0025245	Cutaneous cyst	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0025245	HP:0025245	Cutaneous cyst	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0025245	HP:0025246	Trichilemmal cyst	1	CL E G H
HP:0025245	HP:0025247	Dermoid cyst	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0025245	HP:0200040	Epidermoid cyst	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0025245	HP:0200040	Epidermoid cyst	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0025245	HP:0200040	Epidermoid cyst	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0025245	HP:0200040	Epidermoid cyst	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0025245	HP:0200040	Epidermoid cyst	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional	3179
HP:0025245	HP:0200040	Epidermoid cyst	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040282 - Frequent	3179
HP:0025245	HP:0200040	Epidermoid cyst	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040283 - Occasional	1003
HP:0025245	HP:0200040	Epidermoid cyst	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0025245	HP:0200040	Epidermoid cyst	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040283 - Occasional
HP:0025245	HP:0200040	Epidermoid cyst	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0025245	HP:0025248	Eruptive vellus hair cyst	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	27
HP:0025245	HP:0200040	Epidermoid cyst	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	27
HP:0025245	HP:0025248	Eruptive vellus hair cyst	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	23
HP:0025245	HP:0200040	Epidermoid cyst	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	23
HP:0025245	HP:0200040	Epidermoid cyst	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0025245	HP:0200040	Epidermoid cyst	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	173
HP:0025245	HP:0025248	Eruptive vellus hair cyst	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	41
HP:0025245	HP:0200040	Epidermoid cyst	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	41
HP:0025245	HP:0200040	Epidermoid cyst	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	4
HP:0025245	HP:0025248	Eruptive vellus hair cyst	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	4
HP:0025245	HP:0025247	Dermoid cyst	1	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0025245	HP:0200040	Epidermoid cyst	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0025245	HP:0200040	Epidermoid cyst	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	6
HP:0025245	HP:0200040	Epidermoid cyst	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0025245	HP:0025247	Dermoid cyst	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0025245	HP:0025247	Dermoid cyst	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0025245	HP:0200040	Epidermoid cyst	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0025245	HP:0200040	Epidermoid cyst	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738
HP:0025245	HP:0025247	Dermoid cyst	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111
HP:0025245	HP:0025247	Dermoid cyst	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040284 - Very rare	5
HP:0025245	HP:0012540	Axillary epidermoid cyst	2	CL E G H
HP:0025245	HP:0010604	Cyst of the eyelid	2	CL E G H
HP:0025245	HP:0010605	Chalazion	3	CL E G H