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:0007376	HP:0007376	Abnormal choroid plexus morphology	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome		50
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency		301
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	SMARCB1 CL E G H	6598	11103	OMIM:609322	Rhabdoid tumor predisposition syndrome 1		87
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	TP53 CL E G H	7157	11998	OMIM:202300	Adrenocortical carcinoma, pediatric		911
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus		911
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	TP53 CL E G H	7157	11998	ORPHA:2807	Papilloma of choroid plexus		911
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0007376	HP:0007376	Abnormal choroid plexus morphology	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0007376	HP:0012422	Villous hypertrophy of choroid plexus	1	CL E G H
HP:0007376	HP:0030392	Choroid plexus carcinoma	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0007376	HP:0030392	Choroid plexus carcinoma	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0007376	HP:0006960	Choroid plexus calcification	1	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome	.	50
HP:0007376	HP:0002190	Choroid plexus cyst	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0007376	HP:0002190	Choroid plexus cyst	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0007376	HP:0002190	Choroid plexus cyst	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0007376	HP:0006960	Choroid plexus calcification	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0007376	HP:0006960	Choroid plexus calcification	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0007376	HP:0006960	Choroid plexus calcification	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0007376	HP:0006960	Choroid plexus calcification	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0007376	HP:0002190	Choroid plexus cyst	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0007376	HP:0030392	Choroid plexus carcinoma	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0007376	HP:0002190	Choroid plexus cyst	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0007376	HP:0200022	Choroid plexus papilloma	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0007376	HP:0002190	Choroid plexus cyst	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0007376	HP:0002190	Choroid plexus cyst	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0007376	HP:0030392	Choroid plexus carcinoma	1	SMARCB1 CL E G H	6598	11103	OMIM:609322	Rhabdoid tumor predisposition syndrome 1	.	87
HP:0007376	HP:0030392	Choroid plexus carcinoma	1	TP53 CL E G H	7157	11998	OMIM:202300	Adrenocortical carcinoma, pediatric		911
HP:0007376	HP:0030392	Choroid plexus carcinoma	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0007376	HP:0200022	Choroid plexus papilloma	1	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus	.	911
HP:0007376	HP:0200022	Choroid plexus papilloma	1	TP53 CL E G H	7157	11998	ORPHA:2807	Papilloma of choroid plexus	HP:0040281 - Very frequent	911
HP:0007376	HP:0002190	Choroid plexus cyst	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0007376	HP:0002190	Choroid plexus cyst	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0007376	HP:0002190	Choroid plexus cyst	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040282 - Frequent	5