Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.010 Biomarker disease BEFREE In this consideration, he was referred for postoperative somatostatin analogue treatment to control GH hypersecretion.The misdiagnosis or delayed diagnosis of KS is mainly because of substantial variations in clinical presentation and insufficient professional awareness of the syndrome itself. 27124035 2016
Entrez Id: 6795
Gene Symbol: AURKC
AURKC
0.010 GeneticVariation disease BEFREE Our findings thus indicate that AURKC mutations are more frequent than Klinefelter syndrome and constitute the leading genetic cause of infertility in North African men. 25219909 2016
Entrez Id: 23641
Gene Symbol: LDOC1
LDOC1
0.010 Biomarker disease BEFREE These finding led us to hypothesize that LDOC1 gene upregulation may play a role in the spermatogenesis derangement observed in patients with KS. 27076087 2016
Entrez Id: 2488
Gene Symbol: FSHB
FSHB
0.010 GeneticVariation disease BEFREE The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome. 25052309 2015
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.010 AlteredExpression disease BEFREE Nuclear ubiquitin carboxyl-terminal esterase L1 (UCHL1) expression in Sertoli cells and interstitial expression of inhibin α (INHA), sex-determining region Y-box 9 (SOX9) and steroidogenic acute regulatory protein (STAR) was affected in patients with Klinefelter syndrome. 26405262 2015
Entrez Id: 113802
Gene Symbol: HENMT1
HENMT1
0.010 GeneticVariation disease BEFREE CpG sites annotated to the HEN1 methyltransferase homolog 1 (HENMT1), calcyclin-binding protein (CACYBP), and GTPase-activating protein (SH3 domain)-binding protein 1 (G3BP1) genes were among the "KS-specific" loci that were replicated in ICGN. 25988574 2015
Entrez Id: 7448
Gene Symbol: VTN
VTN
0.010 AlteredExpression disease BEFREE Genes associated with metabolism regulation and encoding liver fatty acid-binding protein (FABP1), aldehyde dehydrogenase 1 family member L1 (ALDH1L1), and vitronectin (VTN) were the most-significantly down-regulated in KS, as confirmed by quantitative reverse transcription PCR. 25581374 2015
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.010 Biomarker disease BEFREE Nuclear ubiquitin carboxyl-terminal esterase L1 (UCHL1) expression in Sertoli cells and interstitial expression of inhibin α (INHA), sex-determining region Y-box 9 (SOX9) and steroidogenic acute regulatory protein (STAR) was affected in patients with Klinefelter syndrome. 26405262 2015
Entrez Id: 10146
Gene Symbol: G3BP1
G3BP1
0.010 GeneticVariation disease BEFREE CpG sites annotated to the HEN1 methyltransferase homolog 1 (HENMT1), calcyclin-binding protein (CACYBP), and GTPase-activating protein (SH3 domain)-binding protein 1 (G3BP1) genes were among the "KS-specific" loci that were replicated in ICGN. 25988574 2015
Entrez Id: 6770
Gene Symbol: STAR
STAR
0.010 Biomarker disease BEFREE Nuclear ubiquitin carboxyl-terminal esterase L1 (UCHL1) expression in Sertoli cells and interstitial expression of inhibin α (INHA), sex-determining region Y-box 9 (SOX9) and steroidogenic acute regulatory protein (STAR) was affected in patients with Klinefelter syndrome. 26405262 2015
Entrez Id: 3623
Gene Symbol: INHA
INHA
0.010 AlteredExpression disease BEFREE Nuclear ubiquitin carboxyl-terminal esterase L1 (UCHL1) expression in Sertoli cells and interstitial expression of inhibin α (INHA), sex-determining region Y-box 9 (SOX9) and steroidogenic acute regulatory protein (STAR) was affected in patients with Klinefelter syndrome. 26405262 2015
Entrez Id: 8788
Gene Symbol: DLK1
DLK1
0.010 AlteredExpression disease BEFREE Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome. 24908673 2014
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
0.010 GeneticVariation disease BEFREE Successful testicular sperm retrieval in adolescents with Klinefelter syndrome treated with at least 1 year of topical testosterone and aromatase inhibitor. 23830150 2013
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1
0.010 GeneticVariation disease BEFREE Copy number variants thought to be associated with risk for schizophrenia and related disorders also occur in affected individuals in Palau, specifically 15q11.2 and 1q21.1 deletions, partial duplication of IL1RAPL1 (Xp21.3), and chromosome X duplications (Klinefelter's syndrome). 21982423 2011
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1
0.010 Biomarker disease BEFREE The present study assessed three "classic" psychophysiological markers of psychosis in Klinefelter syndrome (KS): smooth pursuit eye movements (SPEM), prepulse inhibition (PPI) and P50 suppression. 21655260 2011
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
0.010 Biomarker disease BEFREE The present study assessed three "classic" psychophysiological markers of psychosis in Klinefelter syndrome (KS): smooth pursuit eye movements (SPEM), prepulse inhibition (PPI) and P50 suppression. 21655260 2011
Entrez Id: 11169
Gene Symbol: WDHD1
WDHD1
0.010 GeneticVariation disease BEFREE These include: (258) 47,XXY and variants consistent with Klinefelter syndrome, (3) combined 47,XXY and balanced autosomal rearrangements, (9) 47,XYY, (9) Y-deletions, (7) 46,XX males, (32) balanced rearrangements, and (1) unbalanced rearrangement. 21912980 2011
Entrez Id: 115482723
Gene Symbol: H3P40
H3P40
0.010 Biomarker disease BEFREE The present study assessed three "classic" psychophysiological markers of psychosis in Klinefelter syndrome (KS): smooth pursuit eye movements (SPEM), prepulse inhibition (PPI) and P50 suppression. 21655260 2011
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
0.010 Biomarker disease BEFREE The present study assessed three "classic" psychophysiological markers of psychosis in Klinefelter syndrome (KS): smooth pursuit eye movements (SPEM), prepulse inhibition (PPI) and P50 suppression. 21655260 2011
Entrez Id: 958
Gene Symbol: CD40
CD40
0.010 Biomarker disease BEFREE The present study assessed three "classic" psychophysiological markers of psychosis in Klinefelter syndrome (KS): smooth pursuit eye movements (SPEM), prepulse inhibition (PPI) and P50 suppression. 21655260 2011
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.010 AlteredExpression disease BEFREE Three proteins (Ceruloplasmin, Alpha-1-antitrypsin and Zinc-alpha-2-glycoprotein) were found to be up-regulated in samples obtained from pregnancies with Klinefelter syndrome foetuses, whereas four proteins (Apolipoprotein A-I, Plasma retinol-binding protein, Gelsolin, and Vitamin D-binding protein) were down regulated when compared to proteins detected in samples from normal foetuses. 20045495 2010
Entrez Id: 1356
Gene Symbol: CP
CP
0.010 AlteredExpression disease BEFREE Three proteins (Ceruloplasmin, Alpha-1-antitrypsin and Zinc-alpha-2-glycoprotein) were found to be up-regulated in samples obtained from pregnancies with Klinefelter syndrome foetuses, whereas four proteins (Apolipoprotein A-I, Plasma retinol-binding protein, Gelsolin, and Vitamin D-binding protein) were down regulated when compared to proteins detected in samples from normal foetuses. 20045495 2010
Entrez Id: 563
Gene Symbol: AZGP1
AZGP1
0.010 AlteredExpression disease BEFREE Three proteins (Ceruloplasmin, Alpha-1-antitrypsin and Zinc-alpha-2-glycoprotein) were found to be up-regulated in samples obtained from pregnancies with Klinefelter syndrome foetuses, whereas four proteins (Apolipoprotein A-I, Plasma retinol-binding protein, Gelsolin, and Vitamin D-binding protein) were down regulated when compared to proteins detected in samples from normal foetuses. 20045495 2010
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.010 GeneticVariation disease BEFREE In this study, we present the first report of JAK2 V617F-positive ET in a patient with KS, as well as a review of the relevant literature. 20362232 2010
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.010 PosttranslationalModification disease BEFREE We identified 64 males with FMR1 methylation and, after confirmatory testing, found seven to have full-mutation FXS and 57 to have KS. 19804849 2009