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:0010514	HP:0010514	Hyperpituitarism	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0010514	HP:0010514	Hyperpituitarism	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0010514	HP:0010514	Hyperpituitarism	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1		95
HP:0010514	HP:0010514	Hyperpituitarism	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism		95
HP:0010514	HP:0010514	Hyperpituitarism	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma		95
HP:0010514	HP:0010514	Hyperpituitarism	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0010514	HP:0010514	Hyperpituitarism	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0010514	HP:0010514	Hyperpituitarism	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0010514	HP:0010514	Hyperpituitarism	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0010514	HP:0010514	Hyperpituitarism	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0010514	HP:0010514	Hyperpituitarism	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis		16
HP:0010514	HP:0010514	Hyperpituitarism	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0010514	HP:0010514	Hyperpituitarism	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0010514	HP:0010514	Hyperpituitarism	0	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0010514	HP:0010514	Hyperpituitarism	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0010514	HP:0010514	Hyperpituitarism	0	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0010514	HP:0010514	Hyperpituitarism	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0010514	HP:0010514	Hyperpituitarism	0	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5		3
HP:0010514	HP:0010514	Hyperpituitarism	0	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0010514	HP:0010514	Hyperpituitarism	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma		636
HP:0010514	HP:0010514	Hyperpituitarism	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0010514	HP:0010514	Hyperpituitarism	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0010514	HP:0010514	Hyperpituitarism	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0010514	HP:0010514	Hyperpituitarism	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0010514	HP:0010514	Hyperpituitarism	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0010514	HP:0010514	Hyperpituitarism	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0010514	HP:0010514	Hyperpituitarism	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0010514	HP:0010514	Hyperpituitarism	0	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1371
HP:0010514	HP:0010514	Hyperpituitarism	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0010514	HP:0010514	Hyperpituitarism	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0010514	HP:0010514	Hyperpituitarism	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0010514	HP:0010514	Hyperpituitarism	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0010514	HP:0010514	Hyperpituitarism	0	CYP11A1 CL E G H	1583	2590	OMIM:613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete		31
HP:0010514	HP:0010514	Hyperpituitarism	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0010514	HP:0010514	Hyperpituitarism	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0010514	HP:0010514	Hyperpituitarism	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0010514	HP:0010514	Hyperpituitarism	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0010514	HP:0010514	Hyperpituitarism	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0010514	HP:0010514	Hyperpituitarism	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010514	HP:0010514	Hyperpituitarism	0	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0010514	HP:0010514	Hyperpituitarism	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0010514	HP:0010514	Hyperpituitarism	0	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0010514	HP:0010514	Hyperpituitarism	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0010514	HP:0010514	Hyperpituitarism	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0010514	HP:0010514	Hyperpituitarism	0	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		107
HP:0010514	HP:0010514	Hyperpituitarism	0	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0010514	HP:0010514	Hyperpituitarism	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0010514	HP:0010514	Hyperpituitarism	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0010514	HP:0010514	Hyperpituitarism	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0010514	HP:0010514	Hyperpituitarism	0	FMR1 CL E G H	2332	3775	OMIM:311360	Premature ovarian failure 1		30
HP:0010514	HP:0010514	Hyperpituitarism	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis		92
HP:0010514	HP:0010514	Hyperpituitarism	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0010514	HP:0010514	Hyperpituitarism	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0010514	HP:0010514	Hyperpituitarism	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis		50
HP:0010514	HP:0010514	Hyperpituitarism	0	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1		50
HP:0010514	HP:0010514	Hyperpituitarism	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome		50
HP:0010514	HP:0010514	Hyperpituitarism	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0010514	HP:0010514	Hyperpituitarism	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0010514	HP:0010514	Hyperpituitarism	0	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14		2
HP:0010514	HP:0010514	Hyperpituitarism	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0010514	HP:0010514	Hyperpituitarism	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0010514	HP:0010514	Hyperpituitarism	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0010514	HP:0010514	Hyperpituitarism	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0010514	HP:0010514	Hyperpituitarism	0	GPR101 CL E G H	83550	14963	OMIM:300943	PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2		5
HP:0010514	HP:0010514	Hyperpituitarism	0	HFM1 CL E G H	164045	20193	OMIM:615724	Premature ovarian failure 9		6
HP:0010514	HP:0010514	Hyperpituitarism	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis		55
HP:0010514	HP:0010514	Hyperpituitarism	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0010514	HP:0010514	Hyperpituitarism	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0010514	HP:0010514	Hyperpituitarism	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency		91
HP:0010514	HP:0010514	Hyperpituitarism	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0010514	HP:0010514	Hyperpituitarism	0	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central		14
HP:0010514	HP:0010514	Hyperpituitarism	0	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0010514	HP:0010514	Hyperpituitarism	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0010514	HP:0010514	Hyperpituitarism	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0010514	HP:0010514	Hyperpituitarism	0	LHCGR CL E G H	3973	6585	OMIM:238320	Hypergonadotropic hypogonadism		67
HP:0010514	HP:0010514	Hyperpituitarism	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0010514	HP:0010514	Hyperpituitarism	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0010514	HP:0010514	Hyperpituitarism	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0010514	HP:0010514	Hyperpituitarism	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0010514	HP:0010514	Hyperpituitarism	0	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0010514	HP:0010514	Hyperpituitarism	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0010514	HP:0010514	Hyperpituitarism	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0010514	HP:0010514	Hyperpituitarism	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism		462
HP:0010514	HP:0010514	Hyperpituitarism	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma		462
HP:0010514	HP:0010514	Hyperpituitarism	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis		25
HP:0010514	HP:0010514	Hyperpituitarism	0	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0010514	HP:0010514	Hyperpituitarism	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0010514	HP:0010514	Hyperpituitarism	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0010514	HP:0010514	Hyperpituitarism	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0010514	HP:0010514	Hyperpituitarism	0	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		4
HP:0010514	HP:0010514	Hyperpituitarism	0	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation		4
HP:0010514	HP:0010514	Hyperpituitarism	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0010514	HP:0010514	Hyperpituitarism	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0010514	HP:0010514	Hyperpituitarism	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis		38
HP:0010514	HP:0010514	Hyperpituitarism	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0010514	HP:0010514	Hyperpituitarism	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0010514	HP:0010514	Hyperpituitarism	0	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		38
HP:0010514	HP:0010514	Hyperpituitarism	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0010514	HP:0010514	Hyperpituitarism	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0010514	HP:0010514	Hyperpituitarism	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis		5
HP:0010514	HP:0010514	Hyperpituitarism	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0010514	HP:0010514	Hyperpituitarism	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0010514	HP:0010514	Hyperpituitarism	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0010514	HP:0010514	Hyperpituitarism	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0010514	HP:0010514	Hyperpituitarism	0	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0010514	HP:0010514	Hyperpituitarism	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0010514	HP:0010514	Hyperpituitarism	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0010514	HP:0010514	Hyperpituitarism	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0010514	HP:0010514	Hyperpituitarism	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0010514	HP:0010514	Hyperpituitarism	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010514	HP:0010514	Hyperpituitarism	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0010514	HP:0010514	Hyperpituitarism	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0010514	HP:0010514	Hyperpituitarism	0	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA		2
HP:0010514	HP:0010514	Hyperpituitarism	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0010514	HP:0010514	Hyperpituitarism	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0010514	HP:0010514	Hyperpituitarism	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0010514	HP:0010514	Hyperpituitarism	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis		13
HP:0010514	HP:0010514	Hyperpituitarism	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0010514	HP:0010514	Hyperpituitarism	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0010514	HP:0010514	Hyperpituitarism	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0010514	HP:0010514	Hyperpituitarism	0	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0010514	HP:0010514	Hyperpituitarism	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0010514	HP:0010514	Hyperpituitarism	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0010514	HP:0010514	Hyperpituitarism	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0010514	HP:0010514	Hyperpituitarism	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0010514	HP:0010514	Hyperpituitarism	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0010514	HP:0010514	Hyperpituitarism	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0010514	HP:0010514	Hyperpituitarism	0	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1		23
HP:0010514	HP:0010514	Hyperpituitarism	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0010514	HP:0010514	Hyperpituitarism	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0010514	HP:0010514	Hyperpituitarism	0	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		4
HP:0010514	HP:0010514	Hyperpituitarism	0	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		12
HP:0010514	HP:0010514	Hyperpituitarism	0	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0010514	HP:0010514	Hyperpituitarism	0	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0010514	HP:0010514	Hyperpituitarism	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0010514	HP:0010514	Hyperpituitarism	0	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		5
HP:0010514	HP:0010514	Hyperpituitarism	0	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0010514	HP:0010514	Hyperpituitarism	0	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0010514	HP:0010514	Hyperpituitarism	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0010514	HP:0010514	Hyperpituitarism	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0010514	HP:0010514	Hyperpituitarism	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0010514	HP:0010514	Hyperpituitarism	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010514	HP:0010514	Hyperpituitarism	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0010514	HP:0010514	Hyperpituitarism	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome		177
HP:0010514	HP:0010514	Hyperpituitarism	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0010514	HP:0010514	Hyperpituitarism	0	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		125
HP:0010514	HP:0010514	Hyperpituitarism	0	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0010514	HP:0010514	Hyperpituitarism	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0010514	HP:0010514	Hyperpituitarism	0	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0010514	HP:0010514	Hyperpituitarism	0	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0010514	HP:0010514	Hyperpituitarism	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0010514	HP:0010514	Hyperpituitarism	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0010514	HP:0011749	Adrenocorticotropic hormone excess	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040282 - Frequent	95
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	95
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	16
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5		3
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	636
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV	.	102
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1371
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0010514	HP:0011749	Adrenocorticotropic hormone excess	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0010514	HP:0011749	Adrenocorticotropic hormone excess	1	CYP11A1 CL E G H	1583	2590	OMIM:613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	.	31
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0010514	HP:0011749	Adrenocorticotropic hormone excess	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040281 - Very frequent	53
HP:0010514	HP:0011749	Adrenocorticotropic hormone excess	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent	13
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	107
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FMR1 CL E G H	2332	3775	OMIM:311360	Premature ovarian failure 1	.	30
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	50
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1	.	50
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14		2
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	GPR101 CL E G H	83550	14963	OMIM:300943	PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2		5
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	HFM1 CL E G H	164045	20193	OMIM:615724	Premature ovarian failure 9	.	6
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	55
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.	98
HP:0010514	HP:0011749	Adrenocorticotropic hormone excess	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency		91
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central		14
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	LHCGR CL E G H	3973	6585	OMIM:238320	Hypergonadotropic hypogonadism	.	67
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0010514	HP:0011749	Adrenocorticotropic hormone excess	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040282 - Frequent	462
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	462
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	25
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	38
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	5
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent	13
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040282 - Frequent	2
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent	134
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1	.	134
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA	.	2
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0010514	HP:0000845	Elevated circulating growth hormone concentration	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	13
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1		23
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8	.	4
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	12
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	5
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0010514	HP:0000870	Increased circulating prolactin concentration	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040281 - Very frequent	177
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	125
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0010514	HP:0000837	Increased circulating gonadotropin level	1	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5	.	3
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040282 - Frequent	31
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040282 - Frequent	31
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040282 - Frequent	31
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040282 - Frequent	31
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14	.	2
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14	.	2
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	.	14
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	.	14
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10	.	4
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0010514	HP:0008232	Elevated circulating follicle stimulating hormone level	2	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0010514	HP:0011969	Elevated circulating luteinizing hormone level	2	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10