Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50846
Gene Symbol: DHH
DHH 		0.310 Biomarker disease HPO
Entrez Id: 6736
Gene Symbol: SRY
SRY 		0.400 GeneticVariation disease BEFREE 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. 22288726 2012
Entrez Id: 6736
Gene Symbol: SRY
SRY 		0.400 GeneticVariation disease BEFREE SRY mutations residing in the HMG domain are found in 10-15% of 46,XY gonadal dysgenesis cases. 19513096 2009
Entrez Id: 55012
Gene Symbol: PPP2R3C
PPP2R3C 		0.010 GeneticVariation disease BEFREE PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. 30893644 2019
Entrez Id: 9754
Gene Symbol: STARD8
STARD8 		0.010 Biomarker disease BEFREE A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome. 29886504 2018
Entrez Id: 6736
Gene Symbol: SRY
SRY 		0.400 GeneticVariation disease BEFREE A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis. 15008251 2003
Entrez Id: 9413
Gene Symbol: FAM189A2
FAM189A2 		0.010 Biomarker disease BEFREE A large duplication highlighting PIP5K1B, PRKACG and FAM189A2 as candidates for 46,XY GD, were also detected. 24055526 2013
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.350 Biomarker disease CTD_human A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. 15070943 2004
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.350 Biomarker disease CTD_human A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. 10369247 1999
Entrez Id: 7490
Gene Symbol: WT1
WT1 		0.310 GeneticVariation disease BEFREE A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. 21384108 2011
Entrez Id: 6736
Gene Symbol: SRY
SRY 		0.400 GeneticVariation disease BEFREE A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome. 9341876 1997
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		0.330 Biomarker disease BEFREE A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis. 22441105 2012
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.350 GeneticVariation disease BEFREE Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. 27610946 2017
Entrez Id: 6736
Gene Symbol: SRY
SRY 		0.400 GeneticVariation disease BEFREE Approaches for evaluating SRY as a candidate for TDF included the finding of mutations in SRY in the genomes of patients with failed testis development (XY females or 46,XY gonadal dysgenesis) and the production of female to male sex reversed mice transgenic for the mouse homologue of SRY, [Sry]. 8257986 1993
Entrez Id: 1761
Gene Symbol: DMRT1
DMRT1 		0.320 GeneticVariation disease ORPHANET Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 22821627 2012
Entrez Id: 1761
Gene Symbol: DMRT1
DMRT1 		0.320 Biomarker disease BEFREE Deficits in SRY, WT1, DHH, NR5A1, and DMRT1 caused 46,XY gonadal dysgenesis. 30550360 2019
Entrez Id: 50846
Gene Symbol: DHH
DHH 		0.310 Biomarker disease MGD Desert hedgehog (Dhh) gene is required in the mouse testis for formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules. 11090455 2000
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.010 AlteredExpression disease BEFREE Direct activation of β-catenin through the FLNB-MAP3K1-RAC1 complex by FLNB mutations is a novel mechanism for causing 46,XY gonadal dysgenesis. 29095481 2018
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		0.010 GeneticVariation disease BEFREE Direct activation of β-catenin through the FLNB-MAP3K1-RAC1 complex by FLNB mutations is a novel mechanism for causing 46,XY gonadal dysgenesis. 29095481 2018
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		0.010 GeneticVariation disease BEFREE Direct activation of β-catenin through the FLNB-MAP3K1-RAC1 complex by FLNB mutations is a novel mechanism for causing 46,XY gonadal dysgenesis. 29095481 2018
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		0.330 GermlineCausalMutation disease ORPHANET Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 22051515 2011
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.350 GeneticVariation disease BEFREE Excluding the cases of 46,XY gonadal dysgenesis the incidence of NR5A1 mutations was 5/66 (7.6%). 22028768 2011
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		0.330 Biomarker disease BEFREE Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations. 9002675 1997
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2 		0.320 Biomarker disease GENOMICS_ENGLAND Fog2 is required for normal diaphragm and lung development in mice and humans. 16103912 2005
Entrez Id: 57647
Gene Symbol: DHX37
DHX37 		0.020 GeneticVariation disease BEFREE Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. 31287541 2019