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:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	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:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	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:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome		50
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040282 - Frequent	79
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism		4
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0030087	HP:0030087	Abnormal circulating testosterone concentration	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0030087	HP:0030088	Increased serum testosterone level	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0030087	HP:0030088	Increased serum testosterone level	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040284 - Very rare	25
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	HP:0040283 - Occasional	25
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	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:0030087	HP:0030088	Increased serum testosterone level	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0030087	HP:0030088	Increased serum testosterone level	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040283 - Occasional	112
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	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:0030087	HP:0040171	Decreased serum testosterone concentration	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:0030087	HP:0040171	Decreased serum testosterone concentration	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0030087	HP:0040171	Decreased serum testosterone concentration	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:0030087	HP:0040171	Decreased serum testosterone concentration	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0030087	HP:0030088	Increased serum testosterone level	1	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0030087	HP:0030088	Increased serum testosterone level	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent	101
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0030087	HP:0040171	Decreased serum testosterone concentration	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:0030087	HP:0030088	Increased serum testosterone level	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:0030087	HP:0030088	Increased serum testosterone level	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0030087	HP:0030088	Increased serum testosterone level	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040282 - Frequent	2
HP:0030087	HP:0030088	Increased serum testosterone level	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0030087	HP:0030088	Increased serum testosterone level	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0030087	HP:0030088	Increased serum testosterone level	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0030087	HP:0030088	Increased serum testosterone level	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0030087	HP:0040171	Decreased serum testosterone concentration	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31