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:0100615	HP:0100615	Ovarian neoplasm	0	AKT1 CL E G H	207	391	OMIM:167000	Ovarian cancer		54
HP:0100615	HP:0100615	Ovarian neoplasm	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0100615	HP:0100615	Ovarian neoplasm	0	BARD1 CL E G H	580	952	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	790
HP:0100615	HP:0100615	Ovarian neoplasm	0	BRCA1 CL E G H	672	1100	OMIM:604370	Breast-Ovarian cancer, familial, susceptibility to, 1		5769
HP:0100615	HP:0100615	Ovarian neoplasm	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma		5769
HP:0100615	HP:0100615	Ovarian neoplasm	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0100615	HP:0100615	Ovarian neoplasm	0	BRCA1 CL E G H	672	1100	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	5769
HP:0100615	HP:0100615	Ovarian neoplasm	0	BRCA2 CL E G H	675	1101	OMIM:612555	Breast-Ovarian cancer, familial, susceptibility to, 2	.	7642
HP:0100615	HP:0100615	Ovarian neoplasm	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma		7642
HP:0100615	HP:0100615	Ovarian neoplasm	0	BRCA2 CL E G H	675	1101	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	7642
HP:0100615	HP:0100615	Ovarian neoplasm	0	BRIP1 CL E G H	83990	20473	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	1086
HP:0100615	HP:0100615	Ovarian neoplasm	0	CDH1 CL E G H	999	1748	OMIM:167000	Ovarian cancer		1003
HP:0100615	HP:0100615	Ovarian neoplasm	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma		289
HP:0100615	HP:0100615	Ovarian neoplasm	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100615	HP:0100615	Ovarian neoplasm	0	CHEK2 CL E G H	11200	16627	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	833
HP:0100615	HP:0100615	Ovarian neoplasm	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100615	HP:0100615	Ovarian neoplasm	0	CTNNB1 CL E G H	1499	2514	OMIM:167000	Ovarian cancer		88
HP:0100615	HP:0100615	Ovarian neoplasm	0	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7		21
HP:0100615	HP:0100615	Ovarian neoplasm	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0100615	HP:0100615	Ovarian neoplasm	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent	670
HP:0100615	HP:0100615	Ovarian neoplasm	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100615	HP:0100615	Ovarian neoplasm	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0100615	HP:0100615	Ovarian neoplasm	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0100615	HP:0100615	Ovarian neoplasm	0	ERBB2 CL E G H	2064	3430	OMIM:167000	Ovarian cancer		77
HP:0100615	HP:0100615	Ovarian neoplasm	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional
HP:0100615	HP:0100615	Ovarian neoplasm	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0100615	HP:0100615	Ovarian neoplasm	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0100615	HP:0100615	Ovarian neoplasm	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0100615	HP:0100615	Ovarian neoplasm	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0100615	HP:0100615	Ovarian neoplasm	0	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0100615	HP:0100615	Ovarian neoplasm	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0100615	HP:0100615	Ovarian neoplasm	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0100615	HP:0100615	Ovarian neoplasm	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0100615	HP:0100615	Ovarian neoplasm	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent
HP:0100615	HP:0100615	Ovarian neoplasm	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma		196
HP:0100615	HP:0100615	Ovarian neoplasm	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0100615	HP:0100615	Ovarian neoplasm	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040282 - Frequent	645
HP:0100615	HP:0100615	Ovarian neoplasm	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0100615	HP:0100615	Ovarian neoplasm	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0100615	HP:0100615	Ovarian neoplasm	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100615	HP:0100615	Ovarian neoplasm	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0100615	HP:0100615	Ovarian neoplasm	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0100615	HP:0100615	Ovarian neoplasm	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0100615	HP:0100615	Ovarian neoplasm	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0100615	HP:0100615	Ovarian neoplasm	0	MRE11 CL E G H	4361	7230	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	532
HP:0100615	HP:0100615	Ovarian neoplasm	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0100615	HP:0100615	Ovarian neoplasm	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0100615	HP:0100615	Ovarian neoplasm	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100615	HP:0100615	Ovarian neoplasm	0	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5		2232
HP:0100615	HP:0100615	Ovarian neoplasm	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0100615	HP:0100615	Ovarian neoplasm	0	NBN CL E G H	4683	7652	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	706
HP:0100615	HP:0100615	Ovarian neoplasm	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0100615	HP:0100615	Ovarian neoplasm	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0100615	HP:0100615	Ovarian neoplasm	0	OPCML CL E G H	4978	8143	OMIM:167000	Ovarian cancer		5
HP:0100615	HP:0100615	Ovarian neoplasm	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma		1349
HP:0100615	HP:0100615	Ovarian neoplasm	0	PALB2 CL E G H	79728	26144	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	1349
HP:0100615	HP:0100615	Ovarian neoplasm	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma		192
HP:0100615	HP:0100615	Ovarian neoplasm	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100615	HP:0100615	Ovarian neoplasm	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0100615	HP:0100615	Ovarian neoplasm	0	PIK3CA CL E G H	5290	8975	OMIM:167000	Ovarian cancer		162
HP:0100615	HP:0100615	Ovarian neoplasm	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0100615	HP:0100615	Ovarian neoplasm	0	PMS2 CL E G H	5395	9122	OMIM:614337	Colorectal cancer, hereditary nonpolyposis, type 4	.	1121
HP:0100615	HP:0100615	Ovarian neoplasm	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0100615	HP:0100615	Ovarian neoplasm	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100615	HP:0100615	Ovarian neoplasm	0	PRKN CL E G H	5071	8607	OMIM:167000	Ovarian cancer		138
HP:0100615	HP:0100615	Ovarian neoplasm	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0100615	HP:0100615	Ovarian neoplasm	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0100615	HP:0100615	Ovarian neoplasm	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0100615	HP:0100615	Ovarian neoplasm	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0100615	HP:0100615	Ovarian neoplasm	0	PTEN CL E G H	5728	9588	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	948
HP:0100615	HP:0100615	Ovarian neoplasm	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent	948
HP:0100615	HP:0100615	Ovarian neoplasm	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0100615	HP:0100615	Ovarian neoplasm	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040283 - Occasional	948
HP:0100615	HP:0100615	Ovarian neoplasm	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0100615	HP:0100615	Ovarian neoplasm	0	RAD50 CL E G H	10111	9816	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	789
HP:0100615	HP:0100615	Ovarian neoplasm	0	RAD51 CL E G H	5888	9817	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	9
HP:0100615	HP:0100615	Ovarian neoplasm	0	RAD51C CL E G H	5889	9820	OMIM:613399	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3		391
HP:0100615	HP:0100615	Ovarian neoplasm	0	RAD51C CL E G H	5889	9820	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	391
HP:0100615	HP:0100615	Ovarian neoplasm	0	RAD51D CL E G H	5892	9823	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	345
HP:0100615	HP:0100615	Ovarian neoplasm	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040284 - Very rare	1
HP:0100615	HP:0100615	Ovarian neoplasm	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040284 - Very rare	5
HP:0100615	HP:0100615	Ovarian neoplasm	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma		504
HP:0100615	HP:0100615	Ovarian neoplasm	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0100615	HP:0100615	Ovarian neoplasm	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0100615	HP:0100615	Ovarian neoplasm	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0100615	HP:0100615	Ovarian neoplasm	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8	HP:0040284 - Very rare	4
HP:0100615	HP:0100615	Ovarian neoplasm	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0100615	HP:0100615	Ovarian neoplasm	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0100615	HP:0100615	Ovarian neoplasm	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma		911
HP:0100615	HP:0100615	Ovarian neoplasm	0	TP53 CL E G H	7157	11998	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040281 - Very frequent	911
HP:0100615	HP:0100615	Ovarian neoplasm	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0100615	HP:0100615	Ovarian neoplasm	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0100615	HP:0100615	Ovarian neoplasm	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040283 - Occasional	71
HP:0100615	HP:0100615	Ovarian neoplasm	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional	310
HP:0100615	HP:0100615	Ovarian neoplasm	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0100615	HP:0100615	Ovarian neoplasm	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome		177
HP:0100615	HP:0100615	Ovarian neoplasm	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional	177
HP:0100615	HP:0100615	Ovarian neoplasm	0	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0100615	HP:0100615	Ovarian neoplasm	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0100615	HP:0100615	Ovarian neoplasm	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0100615	HP:0100615	Ovarian neoplasm	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040284 - Very rare
HP:0100615	HP:0031920	Malignant ovarian granulosa cell tumor	1	CL E G H
HP:0100615	HP:0006774	Ovarian papillary adenocarcinoma	1	AKT1 CL E G H	207	391	OMIM:167000	Ovarian cancer	.	54
HP:0100615	HP:0100621	Dysgerminoma	1	AKT1 CL E G H	207	391	OMIM:167000	Ovarian cancer	.	54
HP:0100615	HP:0025318	Ovarian carcinoma	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0100615	HP:0025318	Ovarian carcinoma	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0100615	HP:0006774	Ovarian papillary adenocarcinoma	1	CDH1 CL E G H	999	1748	OMIM:167000	Ovarian cancer	.	1003
HP:0100615	HP:0100621	Dysgerminoma	1	CDH1 CL E G H	999	1748	OMIM:167000	Ovarian cancer	.	1003
HP:0100615	HP:0025318	Ovarian carcinoma	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0100615	HP:0100621	Dysgerminoma	1	CTNNB1 CL E G H	1499	2514	OMIM:167000	Ovarian cancer	.	88
HP:0100615	HP:0006774	Ovarian papillary adenocarcinoma	1	CTNNB1 CL E G H	1499	2514	OMIM:167000	Ovarian cancer	.	88
HP:0100615	HP:0100621	Dysgerminoma	1	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7		21
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	2
HP:0100615	HP:0031918	Ovarian sex cord-stromal tumor	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	1
HP:0100615	HP:0100621	Dysgerminoma	1	ERBB2 CL E G H	2064	3430	OMIM:167000	Ovarian cancer	.	77
HP:0100615	HP:0006774	Ovarian papillary adenocarcinoma	1	ERBB2 CL E G H	2064	3430	OMIM:167000	Ovarian cancer	.	77
HP:0100615	HP:0100621	Dysgerminoma	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	87
HP:0100615	HP:0025318	Ovarian carcinoma	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	13
HP:0100615	HP:0100621	Dysgerminoma	1	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	.	13
HP:0100615	HP:0031918	Ovarian sex cord-stromal tumor	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100615	HP:0012226	Ovarian teratoma	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	48
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	38
HP:0100615	HP:0006774	Ovarian papillary adenocarcinoma	1	OPCML CL E G H	4978	8143	OMIM:167000	Ovarian cancer	.	5
HP:0100615	HP:0100621	Dysgerminoma	1	OPCML CL E G H	4978	8143	OMIM:167000	Ovarian cancer	.	5
HP:0100615	HP:0025318	Ovarian carcinoma	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0100615	HP:0025318	Ovarian carcinoma	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0100615	HP:0025318	Ovarian carcinoma	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100615	HP:0012226	Ovarian teratoma	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100615	HP:0006774	Ovarian papillary adenocarcinoma	1	PIK3CA CL E G H	5290	8975	OMIM:167000	Ovarian cancer	.	162
HP:0100615	HP:0100621	Dysgerminoma	1	PIK3CA CL E G H	5290	8975	OMIM:167000	Ovarian cancer	.	162
HP:0100615	HP:0025318	Ovarian carcinoma	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100615	HP:0012226	Ovarian teratoma	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100615	HP:0006774	Ovarian papillary adenocarcinoma	1	PRKN CL E G H	5071	8607	OMIM:167000	Ovarian cancer	.	138
HP:0100615	HP:0100621	Dysgerminoma	1	PRKN CL E G H	5071	8607	OMIM:167000	Ovarian cancer	.	138
HP:0100615	HP:0025318	Ovarian carcinoma	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0100615	HP:0010618	Ovarian fibroma	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0100615	HP:0010618	Ovarian fibroma	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0100615	HP:0010618	Ovarian fibroma	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0100615	HP:0025318	Ovarian carcinoma	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0100615	HP:0025318	Ovarian carcinoma	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0100615	HP:0025318	Ovarian carcinoma	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0100615	HP:0025318	Ovarian carcinoma	1	RAD51C CL E G H	5889	9820	OMIM:613399	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3		391
HP:0100615	HP:0025318	Ovarian carcinoma	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	109
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0100615	HP:0010618	Ovarian fibroma	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0100615	HP:0025318	Ovarian carcinoma	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0100615	HP:0025318	Ovarian carcinoma	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	2
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	177
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	149
HP:0100615	HP:0000149	Ovarian gonadoblastoma	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	31
HP:0100615	HP:0030983	Ovarian thecoma	2	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100615	HP:0031919	Juvenile type ovarian granulosa cell tumor	2	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100615	HP:0025274	Ovarian dermoid cyst	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040283 - Occasional	5
HP:0100615	HP:0025274	Ovarian dermoid cyst	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100615	HP:0025274	Ovarian dermoid cyst	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134