Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated genes and diseases:
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: NSMCE2
disease_id: OMIM:617253
disease_name: SECKEL SYNDROME 10
gene_symbol: DIAPH2
disease_id: OMIM:300511
disease_name: PREMATURE OVARIAN FAILURE 2A
gene_symbol: SOHLH1
disease_id: OMIM:617690
disease_name: OVARIAN DYSGENESIS 5
gene_symbol: ESR2
disease_id: OMIM:618187
disease_name: OVARIAN DYSGENESIS 8
gene_symbol: KASH5
disease_id: OMIM:620548
disease_name: PREMATURE OVARIAN FAILURE 22
gene_symbol: MCM8
disease_id: OMIM:612885
disease_name: PREMATURE OVARIAN FAILURE 10
gene_symbol: DHX37
disease_id: OMIM:273250
disease_name: 46,XY SEX REVERSAL 11
gene_symbol: DHX37
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR5A1
disease_id: OMIM:612964
disease_name: PREMATURE OVARIAN FAILURE 7
gene_symbol: NR5A1
disease_id: OMIM:612965
disease_name: 46,XY SEX REVERSAL 3
gene_symbol: NR5A1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: ZSWIM7
disease_id: OMIM:619834
disease_name: OVARIAN DYSGENESIS 10
gene_symbol: SLC30A7
disease_id: OMIM:620501
disease_name: ZIEGLER-HUANG SYNDROME
gene_symbol: FKBP6
disease_id: OMIM:620103
disease_name: SPERMATOGENIC FAILURE 77
gene_symbol: SRY
disease_id: OMIM:400044
disease_name: 46,XY SEX REVERSAL 1
gene_symbol: SRY
disease_id: OMIM:400045
disease_name: 46,XX SEX REVERSAL 1
gene_symbol: SRY
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
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: CNBP
disease_id: OMIM:602668
disease_name: MYOTONIC DYSTROPHY 2
gene_symbol: C14orf39
disease_id: OMIM:619203
disease_name: PREMATURE OVARIAN FAILURE 18
gene_symbol: LHB
disease_id: OMIM:228300
disease_name: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA
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: TAF4B
disease_id: OMIM:615841
disease_name: SPERMATOGENIC FAILURE 13
gene_symbol: ZMYND15
disease_id: OMIM:615842
disease_name: SPERMATOGENIC FAILURE 14
gene_symbol: HFM1
disease_id: OMIM:615724
disease_name: PREMATURE OVARIAN FAILURE 9
gene_symbol: KISS1R
disease_id: OMIM:176400
disease_name: PRECOCIOUS PUBERTY, CENTRAL, 1
gene_symbol: MRPS22
disease_id: OMIM:618117
disease_name: OVARIAN DYSGENESIS 7
gene_symbol: STAG3
disease_id: OMIM:615723
disease_name: PREMATURE OVARIAN FAILURE 8
gene_symbol: TP63
disease_id: OMIM:620311
disease_name: PREMATURE OVARIAN FAILURE 21
gene_symbol: SPATA22
disease_id: OMIM:621002
disease_name: OMIM:621002
gene_symbol: FOXL2
disease_id: ORPHA:572333
disease_name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
3q23 microdeletion syndrome
BPES plus
gene_symbol: MCM9
disease_id: OMIM:616185
disease_name: OVARIAN DYSGENESIS 4
gene_symbol: FANCM
disease_id: OMIM:618086
disease_name: SPERMATOGENIC FAILURE 28
gene_symbol: FANCM
disease_id: OMIM:618096
disease_name: PREMATURE OVARIAN FAILURE 15
gene_symbol: PSMC3IP
disease_id: OMIM:614324
disease_name: OVARIAN DYSGENESIS 3
gene_symbol: MSH4
disease_id: OMIM:619938
disease_name: PREMATURE OVARIAN FAILURE 20
gene_symbol: ERCC6
disease_id: OMIM:616946
disease_name: PREMATURE OVARIAN FAILURE 11
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: CLPP
disease_id: OMIM:614129
disease_name: PERRAULT SYNDROME 3
gene_symbol: BNC1
disease_id: OMIM:618723
disease_name: PREMATURE OVARIAN FAILURE 16
gene_symbol: MEIOB
disease_id: OMIM:620686
disease_name: PREMATURE OVARIAN FAILURE 23
gene_symbol: SYCP2L
disease_id: OMIM:620840
disease_name: PREMATURE OVARIAN FAILURE 24
gene_symbol: BMPR1B
disease_id: OMIM:609441
disease_name: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
gene_symbol: AR
disease_id: OMIM:300068
disease_name: ANDROGEN INSENSITIVITY SYNDROME
gene_symbol: CBX2
disease_id: OMIM:613080
disease_name: 46,XY SEX REVERSAL 5
gene_symbol: GCNA
disease_id: OMIM:301077
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 4
gene_symbol: XRCC2
disease_id: OMIM:619146
disease_name: PREMATURE OVARIAN FAILURE 17
gene_symbol: GDF9
disease_id: OMIM:618014
disease_name: PREMATURE OVARIAN FAILURE 14
gene_symbol: SPIDR
disease_id: OMIM:619665
disease_name: OVARIAN DYSGENESIS 9
gene_symbol: MSH5
disease_id: OMIM:617442
disease_name: PREMATURE OVARIAN FAILURE 13
gene_symbol: SOX9
disease_id: OMIM:278850
disease_name: 46,XX SEX REVERSAL 2
gene_symbol: SOX9
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: FIGLA
disease_id: OMIM:612310
disease_name: PREMATURE OVARIAN FAILURE 6
gene_symbol: SHOC1
disease_id: OMIM:619949
disease_name: SPERMATOGENIC FAILURE 75
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: HROB
disease_id: OMIM:620897
disease_name: OMIM:620897