Phenotype: Decreased fertility (HP:0000144)
Associated genes and diseases:
gene_symbol: BSCL2
disease_id: OMIM:269700
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
gene_symbol: SOX9
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: NR5A1
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: NR5A1
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: SRY
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: CYP11A1
disease_id: ORPHA:168558
disease_name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
XY sex reversal-adrenal failure
gene_symbol: CYP11A1
disease_id: ORPHA:289548
disease_name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
gene_symbol: CUL7
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: OBSL1
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CCDC8
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CHRM3
disease_id: ORPHA:2970
disease_name: Prune belly syndrome
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: PTPN11
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: BRAF
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: RAF1
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: PSMC3IP
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: POLR3H
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: ZSWIM7
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: BMP15
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: FIGLA
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: NUP107
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: SPIDR
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: FSHR
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: MRPS22
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: BNC1
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: MSH4
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: DHX37
disease_id: ORPHA:983
disease_name: Testicular regression syndrome
ETRS
Embryonic testicular regression syndrome
TRS
Vanishing testes syndrome
Vanishing testis syndrome
XY gonadal agenesis syndrome
gene_symbol: MPLKIP
disease_id: OMIM:234050
disease_name: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
gene_symbol: AR
disease_id: ORPHA:481
disease_name: Kennedy disease
SBMA
SMAX1
X-linked BSMA
X-linked bulbospinal amyotrophy
X-linked bulbospinal muscular atrophy
X-linked spinal and bulbar muscular atrophy
gene_symbol: AR
disease_id: OMIM:313200
disease_name: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
gene_symbol: RNF216
disease_id: ORPHA:1173
disease_name: Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
gene_symbol: PNPLA6
disease_id: ORPHA:1173
disease_name: Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
gene_symbol: SLC34A2
disease_id: ORPHA:60025
disease_name: Pulmonary alveolar microlithiasis
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: CYB5A
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: CYP17A1
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: CYP17A1
disease_id: ORPHA:90793
disease_name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: SRD5A2
disease_id: ORPHA:753
disease_name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
46,XY DSD due to 5-alpha-reductase 2 deficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Pseudovaginal perineoscrotal hypospadias
Steroid 5-alpha-reductase 2 deficiency
gene_symbol: FGFR1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SEMA3A
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SPRY4
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FLRT3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROKR2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: NDNF
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FGF8
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FEZF1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DCC
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: ANOS1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: IL17RD
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SOX10
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: CCDC141
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROK2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: CHD7
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DUSP6
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: TACR3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: WDR11
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HS6ST1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HESX1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FGF17
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FOXL2
disease_id: ORPHA:572333
disease_name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
3q23 microdeletion syndrome
BPES plus
gene_symbol: TBX3
disease_id: ORPHA:3138
disease_name: Ulnar-mammary syndrome
Pallister ulnar-mammary syndrome
Schinzel syndrome
UMS
gene_symbol: H6PD
disease_id: OMIM:604931
disease_name: CORTISONE REDUCTASE DEFICIENCY 1
gene_symbol: HSD17B3
disease_id: ORPHA:752
disease_name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
gene_symbol: HSD17B3
disease_id: OMIM:264300
disease_name: 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
gene_symbol: CFAP300
disease_id: OMIM:618063
disease_name: CILIARY DYSKINESIA, PRIMARY, 38
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: OMIM:615703
disease_name: MORBID OBESITY AND SPERMATOGENIC FAILURE
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: DNAH9
disease_id: OMIM:618300
disease_name: CILIARY DYSKINESIA, PRIMARY, 40
gene_symbol: RSPH3
disease_id: OMIM:616481
disease_name: CILIARY DYSKINESIA, PRIMARY, 32
gene_symbol: CCNO
disease_id: OMIM:615872
disease_name: CILIARY DYSKINESIA, PRIMARY, 29
gene_symbol: ATP7B
disease_id: ORPHA:905
disease_name: Wilson disease
Hepatolenticular degeneration
gene_symbol: HJV
disease_id: OMIM:602390
disease_name: HEMOCHROMATOSIS, TYPE 2A
gene_symbol: NR3C1
disease_id: ORPHA:786
disease_name: Generalized glucocorticoid resistance syndrome
gene_symbol: NR3C1
disease_id: OMIM:615962
disease_name: GLUCOCORTICOID RESISTANCE, GENERALIZED
gene_symbol: SNORD116-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: HERC2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: NPAP1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SNORD115-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: MKRN3
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWAR1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: IPW
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWRN1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PROP1
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: PROP1
disease_id: ORPHA:90695
disease_name: Non-acquired panhypopituitarism
Genetic panhypopituitarism
gene_symbol: GLI2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: LHX4
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: FOXA2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: POU1F1
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: OTX2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: PLIN1
disease_id: ORPHA:280356
disease_name: PLIN1-related familial partial lipodystrophy
FPLD4
PLIN1-related FPLD
gene_symbol: RSPH1
disease_id: OMIM:615481
disease_name: CILIARY DYSKINESIA, PRIMARY, 24
gene_symbol: DNAAF4
disease_id: OMIM:615482
disease_name: CILIARY DYSKINESIA, PRIMARY, 25
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: GBA2
disease_id: ORPHA:320391
disease_name: Autosomal recessive spastic paraplegia type 46
SPG46
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
gene_symbol: FSHB
disease_id: OMIM:229070
disease_name: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: PRLR
disease_id: ORPHA:397685
disease_name: Familial hyperprolactinemia
Familial isolated prolactin receptor deficiency
gene_symbol: DNAAF1
disease_id: OMIM:613193
disease_name: CILIARY DYSKINESIA, PRIMARY, 13
gene_symbol: PADI6
disease_id: OMIM:617234
disease_name: PREIMPLANTATION EMBRYONIC LETHALITY 2
gene_symbol: NANOS1
disease_id: OMIM:615413
disease_name: SPERMATOGENIC FAILURE 12
gene_symbol: STUB1
disease_id: ORPHA:412057
disease_name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
SCAR16
Spinocerebellar ataxia autosomal recessive type 16
gene_symbol: BMP6
disease_id: ORPHA:465508
disease_name: Symptomatic form of HFE-related hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1
gene_symbol: HFE
disease_id: ORPHA:465508
disease_name: Symptomatic form of HFE-related hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1
gene_symbol: GAS2L2
disease_id: OMIM:618449
disease_name: CILIARY DYSKINESIA, PRIMARY, 41
gene_symbol: HLA-DQA1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: HLA-DQB1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
gene_symbol: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
gene_symbol: KISS1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SEMA3E
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SRA1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: NSMF
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: AXL
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: KISS1R
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: GNRH1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: TAC3
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: GNRHR
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
gene_symbol: DNAAF3
disease_id: OMIM:606763
disease_name: CILIARY DYSKINESIA, PRIMARY, 2
gene_symbol: DHH
disease_id: ORPHA:168563
disease_name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
gene_symbol: SOX3
disease_id: ORPHA:90695
disease_name: Non-acquired panhypopituitarism
Genetic panhypopituitarism
gene_symbol: CCDC40
disease_id: OMIM:613808
disease_name: CILIARY DYSKINESIA, PRIMARY, 15
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: MEN1
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: BLM
disease_id: OMIM:210900
disease_name: BLOOM SYNDROME
gene_symbol: VAMP7
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WWOX
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: MAP3K1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WT1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: ZFPM2
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR0B1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: GATA4
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
gene_symbol: DNAJB13
disease_id: OMIM:617091
disease_name: CILIARY DYSKINESIA, PRIMARY, 34
gene_symbol: DNAJB13
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF6
disease_id: OMIM:300991
disease_name: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED
gene_symbol: DNAAF6
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: QRICH2
disease_id: OMIM:618341
disease_name: SPERMATOGENIC FAILURE 35
gene_symbol: STAG3
disease_id: OMIM:619672
disease_name: SPERMATOGENIC FAILURE 61
gene_symbol: RNF212
disease_id: OMIM:619673
disease_name: SPERMATOGENIC FAILURE 62
gene_symbol: SEPTIN12
disease_id: OMIM:614822
disease_name: SPERMATOGENIC FAILURE 10
gene_symbol: ZPBP
disease_id: OMIM:619799
disease_name: SPERMATOGENIC FAILURE 66
gene_symbol: KASH5
disease_id: OMIM:620547
disease_name: SPERMATOGENIC FAILURE 88
gene_symbol: DNHD1
disease_id: OMIM:619712
disease_name: SPERMATOGENIC FAILURE 65
gene_symbol: TTC29
disease_id: OMIM:618745
disease_name: SPERMATOGENIC FAILURE 42
gene_symbol: CDC14A
disease_id: OMIM:608653
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM
gene_symbol: TSPY1
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: DAZ2
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: DAZ2
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: DAZ4
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: USP9Y
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: USP9Y
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: RBMY1A1
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: RBMY1A1
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: DAZ3
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: DAZ3
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: DDX3Y
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: DDX3Y
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: DAZ1
disease_id: ORPHA:1646
disease_name: Chromosome Y microdeletion syndrome
Male infertility due to chromosome Y microdeletion
Microdeletion of the AZF region on the Y chromosome
gene_symbol: DAZ1
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: CFAP47
disease_id: OMIM:301059
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 3
gene_symbol: KLHL10
disease_id: OMIM:615081
disease_name: SPERMATOGENIC FAILURE 11
gene_symbol: PMFBP1
disease_id: OMIM:618112
disease_name: SPERMATOGENIC FAILURE 31
gene_symbol: PMFBP1
disease_id: ORPHA:529970
disease_name: Male infertility due to acephalic spermatozoa
Acephalic spermatozoa syndrome
gene_symbol: C14orf39
disease_id: OMIM:619202
disease_name: SPERMATOGENIC FAILURE 52
gene_symbol: SPEF2
disease_id: OMIM:618751
disease_name: SPERMATOGENIC FAILURE 43
gene_symbol: SPEF2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: SOHLH1
disease_id: OMIM:618115
disease_name: SPERMATOGENIC FAILURE 32
gene_symbol: CEP112
disease_id: OMIM:619044
disease_name: SPERMATOGENIC FAILURE 44
gene_symbol: TDRD9
disease_id: OMIM:618110
disease_name: SPERMATOGENIC FAILURE 30
gene_symbol: CFAP52
disease_id: OMIM:619607
disease_name: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY
gene_symbol: BRWD1
disease_id: OMIM:620438
disease_name: CILIARY DYSKINESIA, PRIMARY, 51
gene_symbol: RPL10L
disease_id: OMIM:619689
disease_name: SPERMATOGENIC FAILURE 63
gene_symbol: TEX14
disease_id: OMIM:617707
disease_name: SPERMATOGENIC FAILURE 23
gene_symbol: MEIOB
disease_id: OMIM:617706
disease_name: SPERMATOGENIC FAILURE 22
gene_symbol: TEKT3
disease_id: OMIM:620277
disease_name: SPERMATOGENIC FAILURE 81
gene_symbol: SPATA22
disease_id: OMIM:621001
disease_name: OMIM:621001
gene_symbol: CFTR
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: CFTR
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CFTR
disease_id: OMIM:277180
disease_name: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF
gene_symbol: CFTR
disease_id: ORPHA:48
disease_name: Congenital bilateral absence of vas deferens
Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia of vas deferens
gene_symbol: FCGR2A
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: TGFB1
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: TGFB1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SYCP2
disease_id: OMIM:258150
disease_name: SPERMATOGENIC FAILURE 1
gene_symbol: FBXO43
disease_id: OMIM:619696
disease_name: SPERMATOGENIC FAILURE 64
gene_symbol: DNAH17
disease_id: OMIM:618643
disease_name: SPERMATOGENIC FAILURE 39
gene_symbol: SUN5
disease_id: ORPHA:529970
disease_name: Male infertility due to acephalic spermatozoa
Acephalic spermatozoa syndrome
gene_symbol: SUN5
disease_id: OMIM:617187
disease_name: SPERMATOGENIC FAILURE 16
gene_symbol: CCIN
disease_id: OMIM:620838
disease_name: SPERMATOGENIC FAILURE 91
gene_symbol: LRRC23
disease_id: OMIM:620848
disease_name: SPERMATOGENIC FAILURE 92
gene_symbol: TTC12
disease_id: OMIM:618801
disease_name: CILIARY DYSKINESIA, PRIMARY, 45
gene_symbol: TTC12
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: LHCGR
disease_id: ORPHA:3000
disease_name: Familial peripheral male-limited precocious puberty
FMPP
Familial gonadotropin-independent male-limited sexual precocity
Male-limited precocious puberty
Testotoxicosis
gene_symbol: IQCN
disease_id: OMIM:620170
disease_name: SPERMATOGENIC FAILURE 78
gene_symbol: STRC
disease_id: ORPHA:94064
disease_name: Deafness-infertility syndrome
DIS
Hearing loss-infertility syndrome
gene_symbol: STRC
disease_id: OMIM:611102
disease_name: DEAFNESS-INFERTILITY SYNDROME
gene_symbol: STRC
disease_id: OMIM:612997
disease_name: SPERMATOGENIC FAILURE 7
gene_symbol: CATSPER2
disease_id: ORPHA:94064
disease_name: Deafness-infertility syndrome
DIS
Hearing loss-infertility syndrome
gene_symbol: CATSPER2
disease_id: OMIM:611102
disease_name: DEAFNESS-INFERTILITY SYNDROME
gene_symbol: CATSPER2
disease_id: OMIM:612997
disease_name: SPERMATOGENIC FAILURE 7
gene_symbol: SPINK2
disease_id: OMIM:618091
disease_name: SPERMATOGENIC FAILURE 29
gene_symbol: AURKC
disease_id: OMIM:243060
disease_name: SPERMATOGENIC FAILURE 5
gene_symbol: DZIP1
disease_id: OMIM:619102
disease_name: SPERMATOGENIC FAILURE 47
gene_symbol: TSGA10
disease_id: OMIM:617961
disease_name: SPERMATOGENIC FAILURE 26
gene_symbol: TEX15
disease_id: OMIM:617960
disease_name: SPERMATOGENIC FAILURE 25
gene_symbol: ADGRG2
disease_id: OMIM:300985
disease_name: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED
gene_symbol: ADGRG2
disease_id: ORPHA:48
disease_name: Congenital bilateral absence of vas deferens
Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia of vas deferens
gene_symbol: AMHR2
disease_id: OMIM:261550
disease_name: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
gene_symbol: AMH
disease_id: OMIM:261550
disease_name: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
gene_symbol: STK33
disease_id: OMIM:620849
disease_name: OMIM:620849
gene_symbol: AK7
disease_id: OMIM:617965
disease_name: SPERMATOGENIC FAILURE 27
gene_symbol: M1AP
disease_id: OMIM:619108
disease_name: SPERMATOGENIC FAILURE 48
gene_symbol: XKRY
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: VCY
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: HSFY1
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: CDY2A
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: CDY1
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: PRY2
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: PRY
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: BPY2
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: RPS4Y2
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: KDM5D
disease_id: OMIM:415000
disease_name: SPERMATOGENIC FAILURE, Y-LINKED, 2
gene_symbol: WDR19
disease_id: OMIM:619867
disease_name: SPERMATOGENIC FAILURE 72
gene_symbol: CCDC146
disease_id: OMIM:620850
disease_name: OMIM:620850
gene_symbol: CYP19A1
disease_id: ORPHA:91
disease_name: Aromatase deficiency
Congenital estrogen deficiency
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
gene_symbol: CCDC39
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
gene_symbol: DNAI1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: PPP2R3C
disease_id: OMIM:618420
disease_name: SPERMATOGENIC FAILURE 36
gene_symbol: CFAP65
disease_id: OMIM:618664
disease_name: SPERMATOGENIC FAILURE 40
gene_symbol: DNAH1
disease_id: OMIM:617576
disease_name: SPERMATOGENIC FAILURE 18
gene_symbol: DNAH1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: TTC21A
disease_id: OMIM:618429
disease_name: SPERMATOGENIC FAILURE 37
gene_symbol: MNS1
disease_id: OMIM:618948
disease_name: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY
gene_symbol: PLCZ1
disease_id: OMIM:617214
disease_name: SPERMATOGENIC FAILURE 17
gene_symbol: ARMC12
disease_id: OMIM:620744
disease_name: SPERMATOGENIC FAILURE 90
gene_symbol: DNAI2
disease_id: OMIM:612444
disease_name: CILIARY DYSKINESIA, PRIMARY, 9
gene_symbol: DNAI2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAH10
disease_id: OMIM:619515
disease_name: SPERMATOGENIC FAILURE 56
gene_symbol: ACR
disease_id: OMIM:620500
disease_name: SPERMATOGENIC FAILURE 87
gene_symbol: MOV10L1
disease_id: OMIM:619878
disease_name: SPERMATOGENIC FAILURE 73
gene_symbol: FKBP6
disease_id: OMIM:620103
disease_name: SPERMATOGENIC FAILURE 77
gene_symbol: DRC1
disease_id: OMIM:620222
disease_name: SPERMATOGENIC FAILURE 80
gene_symbol: DRC1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: TEX11
disease_id: OMIM:309120
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 2
gene_symbol: STX1A
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: GSTM3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: GCLC
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CEACAM3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC11A1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: DCTN4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: KCNN4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: MIF
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: EDNRA
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC9A3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: HMOX1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC26A9
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC6A14
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SERPINA1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CLCA4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CEACAM6
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SSX1
disease_id: OMIM:301099
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 5
gene_symbol: ARMC2
disease_id: OMIM:618433
disease_name: SPERMATOGENIC FAILURE 38
gene_symbol: CFAP251
disease_id: OMIM:618152
disease_name: SPERMATOGENIC FAILURE 33
gene_symbol: FSIP2
disease_id: OMIM:618153
disease_name: SPERMATOGENIC FAILURE 34
gene_symbol: CFAP70
disease_id: OMIM:618670
disease_name: SPERMATOGENIC FAILURE 41
gene_symbol: TAF4B
disease_id: OMIM:615841
disease_name: SPERMATOGENIC FAILURE 13
gene_symbol: PNLDC1
disease_id: OMIM:619528
disease_name: SPERMATOGENIC FAILURE 57
gene_symbol: CCDC62
disease_id: OMIM:619803
disease_name: SPERMATOGENIC FAILURE 67
gene_symbol: ZMYND15
disease_id: OMIM:615842
disease_name: SPERMATOGENIC FAILURE 14
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: DNAAF5
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CATSPERT
disease_id: OMIM:619805
disease_name: SPERMATOGENIC FAILURE 68
gene_symbol: TERB2
disease_id: OMIM:619645
disease_name: SPERMATOGENIC FAILURE 59
gene_symbol: TERB1
disease_id: OMIM:619646
disease_name: SPERMATOGENIC FAILURE 60
gene_symbol: DNAH7
disease_id: OMIM:620356
disease_name: CILIARY DYSKINESIA, PRIMARY, 50
gene_symbol: AKAP3
disease_id: OMIM:620353
disease_name: SPERMATOGENIC FAILURE 82
gene_symbol: DNALI1
disease_id: OMIM:620354
disease_name: SPERMATOGENIC FAILURE 83
gene_symbol: CFAP74
disease_id: OMIM:620197
disease_name: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS
gene_symbol: CFAP74
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: KCNU1
disease_id: OMIM:620196
disease_name: SPERMATOGENIC FAILURE 79
gene_symbol: DNAH2
disease_id: OMIM:619094
disease_name: SPERMATOGENIC FAILURE 45
gene_symbol: USP26
disease_id: OMIM:301101
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 6
gene_symbol: CCDC34
disease_id: OMIM:620084
disease_name: SPERMATOGENIC FAILURE 76
gene_symbol: DNAH8
disease_id: OMIM:619095
disease_name: SPERMATOGENIC FAILURE 46
gene_symbol: CFAP44
disease_id: OMIM:617593
disease_name: SPERMATOGENIC FAILURE 20
gene_symbol: CFAP43
disease_id: OMIM:617592
disease_name: SPERMATOGENIC FAILURE 19
gene_symbol: ACTL9
disease_id: OMIM:619258
disease_name: SPERMATOGENIC FAILURE 53
gene_symbol: CATIP
disease_id: OMIM:619379
disease_name: SPERMATOGENIC FAILURE 54
gene_symbol: CT55
disease_id: OMIM:301106
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 7
gene_symbol: MSH5
disease_id: OMIM:619937
disease_name: SPERMATOGENIC FAILURE 74
gene_symbol: CLDN2
disease_id: OMIM:301060
disease_name: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS
gene_symbol: DPY19L2
disease_id: OMIM:613958
disease_name: SPERMATOGENIC FAILURE 9
gene_symbol: SYCP3
disease_id: OMIM:270960
disease_name: SPERMATOGENIC FAILURE 4
gene_symbol: GCM2
disease_id: ORPHA:2239
disease_name: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
gene_symbol: ODAD3
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: NME8
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: FOXJ1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RSPH9
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: NME5
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: SPAG1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAL1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ODAD4
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFAP221
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF11
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
gene_symbol: RPGR
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ODAD2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAH5
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: MCIDAS
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: HYDIN
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: STK36
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DRC2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: NEK10
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: OFD1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DRC4
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RSPH4A
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: LRRC56
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF19
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAH11
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: SPACA1
disease_id: OMIM:620490
disease_name: SPERMATOGENIC FAILURE 85
gene_symbol: SPAG17
disease_id: OMIM:619380
disease_name: SPERMATOGENIC FAILURE 55
gene_symbol: GCNA
disease_id: OMIM:301077
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 4
gene_symbol: SLC26A8
disease_id: OMIM:606766
disease_name: SPERMATOGENIC FAILURE 3
gene_symbol: CYLC1
disease_id: OMIM:301119
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 8
gene_symbol: CFAP58
disease_id: OMIM:619144
disease_name: SPERMATOGENIC FAILURE 49
gene_symbol: CFAP61
disease_id: OMIM:620409
disease_name: SPERMATOGENIC FAILURE 84
gene_symbol: GGN
disease_id: OMIM:619826
disease_name: SPERMATOGENIC FAILURE 69
gene_symbol: BRDT
disease_id: OMIM:617644
disease_name: SPERMATOGENIC FAILURE 21
gene_symbol: SYCE1
disease_id: OMIM:616950
disease_name: SPERMATOGENIC FAILURE 15
gene_symbol: SHOC1
disease_id: OMIM:619949
disease_name: SPERMATOGENIC FAILURE 75
gene_symbol: PDHA2
disease_id: OMIM:619828
disease_name: SPERMATOGENIC FAILURE 70
gene_symbol: CATSPER1
disease_id: OMIM:612997
disease_name: SPERMATOGENIC FAILURE 7
gene_symbol: ACTL7A
disease_id: OMIM:620499
disease_name: SPERMATOGENIC FAILURE 86
gene_symbol: SPATA16
disease_id: OMIM:102530
disease_name: SPERMATOGENIC FAILURE 6
gene_symbol: MAP2K1
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: TUBB8
disease_id: OMIM:616780
disease_name: OOCYTE MATURATION DEFECT 2
gene_symbol: TUBB8
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: REC114
disease_id: OMIM:619176
disease_name: OOCYTE MATURATION DEFECT 10
gene_symbol: TRIP13
disease_id: OMIM:619011
disease_name: OOCYTE MATURATION DEFECT 9
gene_symbol: ZP3
disease_id: OMIM:617712
disease_name: OOCYTE MATURATION DEFECT 3
gene_symbol: GGPS1
disease_id: OMIM:619518
disease_name: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
gene_symbol: WEE2
disease_id: OMIM:617996
disease_name: OOCYTE MATURATION DEFECT 5
gene_symbol: WEE2
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: ZP1
disease_id: OMIM:615774
disease_name: OOCYTE MATURATION DEFECT 1
gene_symbol: SYCP2L
disease_id: OMIM:620840
disease_name: PREMATURE OVARIAN FAILURE 24
gene_symbol: MOS
disease_id: OMIM:620383
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20
gene_symbol: HSF2BP
disease_id: OMIM:619245
disease_name: PREMATURE OVARIAN FAILURE 19
gene_symbol: MEI1
disease_id: OMIM:618431
disease_name: HYDATIDIFORM MOLE, RECURRENT, 3
gene_symbol: TOP6BL
disease_id: OMIM:618432
disease_name: HYDATIDIFORM MOLE, RECURRENT, 4
gene_symbol: ASTL
disease_id: OMIM:619643
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11
gene_symbol: POF1B
disease_id: OMIM:300604
disease_name: PREMATURE OVARIAN FAILURE 2B
gene_symbol: PANX1
disease_id: OMIM:618550
disease_name: OOCYTE MATURATION DEFECT 7
gene_symbol: PANX1
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: PATL2
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: PATL2
disease_id: OMIM:617743
disease_name: OOCYTE MATURATION DEFECT 4
gene_symbol: TLE6
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TLE6
disease_id: OMIM:616814
disease_name: PREIMPLANTATION EMBRYONIC LETHALITY 1
gene_symbol: ZP2
disease_id: OMIM:618353
disease_name: OOCYTE MATURATION DEFECT 6
gene_symbol: KPNA7
disease_id: OMIM:620319
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17
gene_symbol: BTG4
disease_id: OMIM:619009
disease_name: OOCYTE MATURATION DEFECT 8
gene_symbol: CHEK1
disease_id: OMIM:620610
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21
gene_symbol: NLRP5
disease_id: OMIM:620333
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19
gene_symbol: PGR
disease_id: OMIM:264080
disease_name: PROGESTERONE RESISTANCE
gene_symbol: CDC20
disease_id: OMIM:620276
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14
gene_symbol: NLRP2
disease_id: OMIM:620332
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18
gene_symbol: ZFP36L2
disease_id: OMIM:620154
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: HSD3B2
disease_id: ORPHA:90791
disease_name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome