Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.500 Biomarker disease CTD_human Mutations in NR5A1 associated with ovarian insufficiency. 19246354 2009
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.500 GermlineCausalMutation disease ORPHANET
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22 		0.400 CausalMutation disease CLINVAR Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22 		0.400 GermlineCausalMutation disease ORPHANET Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
Entrez Id: 2492
Gene Symbol: FSHR
FSHR 		0.310 GermlineCausalMutation disease ORPHANET A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. 12571157 2003
Entrez Id: 2492
Gene Symbol: FSHR
FSHR 		0.310 GermlineCausalMutation disease ORPHANET A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. 11889179 2002
Entrez Id: 2492
Gene Symbol: FSHR
FSHR 		0.310 GeneticVariation disease BEFREE We performed direct sequencing of all 10 exons of the FSHR gene in seven sporadic patients and two sisters with 46,XX pure gonadal dysgenesis, to investigate the cause of their disorder. 11223847 2001
Entrez Id: 2492
Gene Symbol: FSHR
FSHR 		0.310 GermlineCausalMutation disease ORPHANET Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. 7553856 1995
Entrez Id: 171568
Gene Symbol: POLR3H
POLR3H 		0.300 GermlineCausalMutation disease ORPHANET Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency. 30830215 2019
Entrez Id: 23514
Gene Symbol: SPIDR
SPIDR 		0.300 GermlineCausalMutation disease ORPHANET A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. 27967308 2017
Entrez Id: 57122
Gene Symbol: NUP107
NUP107 		0.300 GermlineCausalMutation disease ORPHANET A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. 26485283 2015
Entrez Id: 29893
Gene Symbol: PSMC3IP
PSMC3IP 		0.300 GermlineCausalMutation disease ORPHANET XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. 21963259 2011
Entrez Id: 9210
Gene Symbol: BMP15
BMP15 		0.300 GermlineCausalMutation disease ORPHANET Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. 15136966 2004