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:0002671	HP:0002671	Basal cell carcinoma	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0002671	HP:0002671	Basal cell carcinoma	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0002671	HP:0002671	Basal cell carcinoma	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0002671	HP:0002671	Basal cell carcinoma	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0002671	HP:0002671	Basal cell carcinoma	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0002671	HP:0002671	Basal cell carcinoma	0	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3	.
HP:0002671	HP:0002671	Basal cell carcinoma	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0002671	HP:0002671	Basal cell carcinoma	0	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma	HP:0040283 - Occasional	126
HP:0002671	HP:0002671	Basal cell carcinoma	0	CYLD CL E G H	1540	2584	OMIM:601606	Trichoepithelioma, multiple familial, 1	HP:0040283 - Occasional	126
HP:0002671	HP:0002671	Basal cell carcinoma	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0002671	HP:0002671	Basal cell carcinoma	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent	670
HP:0002671	HP:0002671	Basal cell carcinoma	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0002671	HP:0002671	Basal cell carcinoma	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0002671	HP:0002671	Basal cell carcinoma	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	106
HP:0002671	HP:0002671	Basal cell carcinoma	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0002671	HP:0002671	Basal cell carcinoma	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	54
HP:0002671	HP:0002671	Basal cell carcinoma	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0002671	HP:0002671	Basal cell carcinoma	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	158
HP:0002671	HP:0002671	Basal cell carcinoma	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	83
HP:0002671	HP:0002671	Basal cell carcinoma	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0002671	HP:0002671	Basal cell carcinoma	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0002671	HP:0002671	Basal cell carcinoma	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0002671	HP:0002671	Basal cell carcinoma	0	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0002671	HP:0002671	Basal cell carcinoma	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0002671	HP:0002671	Basal cell carcinoma	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0002671	HP:0002671	Basal cell carcinoma	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent
HP:0002671	HP:0002671	Basal cell carcinoma	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0002671	HP:0002671	Basal cell carcinoma	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0002671	HP:0002671	Basal cell carcinoma	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002671	HP:0002671	Basal cell carcinoma	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040283 - Occasional	124
HP:0002671	HP:0002671	Basal cell carcinoma	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0002671	HP:0002671	Basal cell carcinoma	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1	.	1819
HP:0002671	HP:0002671	Basal cell carcinoma	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0002671	HP:0002671	Basal cell carcinoma	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0002671	HP:0002671	Basal cell carcinoma	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0002671	HP:0002671	Basal cell carcinoma	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0002671	HP:0002671	Basal cell carcinoma	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0002671	HP:0002671	Basal cell carcinoma	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0002671	HP:0002671	Basal cell carcinoma	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0002671	HP:0002671	Basal cell carcinoma	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040283 - Occasional	2
HP:0002671	HP:0002671	Basal cell carcinoma	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040283 - Occasional	121
HP:0002671	HP:0002671	Basal cell carcinoma	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0002671	HP:0002671	Basal cell carcinoma	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0002671	HP:0002671	Basal cell carcinoma	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0002671	HP:0002671	Basal cell carcinoma	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040282 - Frequent	155
HP:0002671	HP:0002671	Basal cell carcinoma	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0002671	HP:0002671	Basal cell carcinoma	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0002671	HP:0002671	Basal cell carcinoma	0	PTCH1 CL E G H	5727	9585	OMIM:605462	Basal cell carcinoma, susceptibility to, 1	.	665
HP:0002671	HP:0002671	Basal cell carcinoma	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0002671	HP:0002671	Basal cell carcinoma	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0002671	HP:0002671	Basal cell carcinoma	0	PTCH2 CL E G H	8643	9586	OMIM:605462	Basal cell carcinoma, susceptibility to, 1	.	40
HP:0002671	HP:0002671	Basal cell carcinoma	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0002671	HP:0002671	Basal cell carcinoma	0	RASA1 CL E G H	5921	9871	OMIM:605462	Basal cell carcinoma, susceptibility to, 1	.	88
HP:0002671	HP:0002671	Basal cell carcinoma	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0002671	HP:0002671	Basal cell carcinoma	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0002671	HP:0002671	Basal cell carcinoma	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002671	HP:0002671	Basal cell carcinoma	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0002671	HP:0002671	Basal cell carcinoma	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0002671	HP:0002671	Basal cell carcinoma	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0002671	HP:0002671	Basal cell carcinoma	0	SMO CL E G H	6608	11119	OMIM:605462	Basal cell carcinoma, susceptibility to, 1	.	22
HP:0002671	HP:0002671	Basal cell carcinoma	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0002671	HP:0002671	Basal cell carcinoma	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0002671	HP:0002671	Basal cell carcinoma	0	TMC6 CL E G H	11322	18021	OMIM:226400	Epidermodysplasia verruciformis, susceptibility to, 1	.	10
HP:0002671	HP:0002671	Basal cell carcinoma	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0002671	HP:0002671	Basal cell carcinoma	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040283 - Occasional	146
HP:0002671	HP:0002671	Basal cell carcinoma	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040283 - Occasional	146
HP:0002671	HP:0002671	Basal cell carcinoma	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040283 - Occasional	71
HP:0002671	HP:0002671	Basal cell carcinoma	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.	71
HP:0002671	HP:0002671	Basal cell carcinoma	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0002671	HP:0040098	Basalioma of the outer ear	1	CL E G H