Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 174
Gene Symbol: AFP
AFP
0.010 Biomarker disease BEFREE We recommend that all males with KS and early sexual development or with "normal" testicular growth be screened with measurement of germ cell tumor markers including beta-subunit of human chorionic gonadotropin and alpha-fetoprotein. 7535510 1995
Entrez Id: 268
Gene Symbol: AMH
AMH
0.030 AlteredExpression disease BEFREE Inhibin B and anti-Müllerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome. 15070957 2004
Entrez Id: 268
Gene Symbol: AMH
AMH
0.030 AlteredExpression disease BEFREE The undetectable levels of serum AMH and testosterone levels indicate a lack of functional testicular tissue, for example, that in patients with anorchia or severe Klinefelter syndrome suffering from impaired spermatogenesis. 30381580 2020
Entrez Id: 268
Gene Symbol: AMH
AMH
0.030 Biomarker disease BEFREE Serum AMH is low in infants with hypogonadotrophic hypogonadism (and increases with FSH treatment), in patients with primary hypogonadism from early postnatal life and in Klinefelter syndrome from midpuberty. 28613046 2017
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
0.010 Biomarker disease BEFREE The relation of patients with HHA to those with Klinefelter syndrome was 1:10 (n = 19/186). 3101500 1987
Entrez Id: 26
Gene Symbol: AOC1
AOC1
0.010 Biomarker disease BEFREE ABP profiles were significantly smaller in men with Klinefelter's syndrome who were negative for spermatozoa compared with men who were positive. 11925377 2002
Entrez Id: 367
Gene Symbol: AR
AR
0.060 AlteredExpression disease BEFREE The relationship of genetic features of the X chromosome, including parental origin of X chromosomes, the CAG repeat length of the androgen receptor (AR) gene, and X inactivation with progression of pubertal development, growth and testicular function in KS boys. 16817826 2006
Entrez Id: 367
Gene Symbol: AR
AR
0.060 Biomarker disease BEFREE Our findings demonstrated that the AR-qPCR technique is a simple and reliable screening method for diagnosis of patients with Klinefelter syndrome or other chromosomal disorders involving an aberrant number of X-chromosomes. 17720778 2007
Entrez Id: 367
Gene Symbol: AR
AR
0.060 Biomarker disease BEFREE An AR gene abnormality does not constitute an important factor for impaired spermatogenesis in patients with Klinefelter's syndrome. 11473958 2001
Entrez Id: 367
Gene Symbol: AR
AR
0.060 GeneticVariation disease BEFREE Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene. 26845730 2016
Entrez Id: 367
Gene Symbol: AR
AR
0.060 GeneticVariation disease BEFREE To analyze the relation between bone mass, testosterone, and AR CAG polymorphism in men with KS. 21270324 2011
Entrez Id: 367
Gene Symbol: AR
AR
0.060 GeneticVariation disease BEFREE We wanted to describe X-chromosome inactivation patterns and the AR polymorphism and correlate these to clinical findings in KS in a cross-sectional study. 21977989 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: 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: 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: 560
Gene Symbol: AZF1
AZF1
0.030 Biomarker disease BEFREE The percentage of microdeletions in KS patients was lower than in NOA patients, suggesting that AZF microdeletions and KS do not have a causal relationship and that Y chromosome microdeletions are not a genetic factor linked to KS. 30499012 2019
Entrez Id: 560
Gene Symbol: AZF1
AZF1
0.030 Biomarker disease BEFREE Investigation of AZF microdeletions in patients with Klinefelter syndrome. 26634477 2015
Entrez Id: 560
Gene Symbol: AZF1
AZF1
0.030 Biomarker disease BEFREE However, in cases with negative TESE only smoking was identified as a predictive factor for negative sperm retrieval and was established as a risk factor.<b>Abbreviations:</b> AZF: azoospermia factor; BMI: body mass index; Crypt: cryptozoospermia; FSH: Follicle-Stimulating Hormone; ICSI: intracytoplasmic sperm injection; IU: international unit; KS: Klinefelter syndrome; LH: Luteinizing Hormone; mL: milliliter; NOA: non-obstructive azoospermia; OA: obstructive azoospermia; T: testosterone; TESA: testicular sperm aspiration; TESE: testicular sperm extraction. 31687848 2020
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: 582
Gene Symbol: BBS1
BBS1
0.010 Biomarker disease BEFREE Endocrine or syndromal disorders were diagnosed in 13 children (<1%; 4 with hypothyroidism, 1 with Cushing's syndrome, 1 with growth hormone deficiency, 2 with pseudohypoparathyroidism, 1 with pseudopseudohypoparathyroidism, 2 with Prader-Willi syndrome, 1 with Bardet-Biedl syndrome, 1 with Klinefelter syndrome). 17517246 2007
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.010 GeneticVariation disease BEFREE Five patients had Klinefelter syndrome (4%) and 11% of patients harbored pathogenic BRCA2 germline mutations. 31340200 2019
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
0.070 Biomarker disease BEFREE When non-KS oligo-azoospermic patients were classified according to histology [Sertoli cell-only (SCO), n = 18 or non-Sertoli cell only (non-SCO), n= 18] and compared to KS patients, the hormonal pattern did not differ between SCO and non-SCO subjects, but levels in KS patients were significantly different for FSH, inhibin-B and the FSH/inhibin-B ratio. 12864799 2003
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
0.070 AlteredExpression disease BEFREE Plasma LH and FSH levels were abnormally high and testosterone levels were reduced in all the patients with Klinefelter's syndrome. 10202890 1999
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
0.070 AlteredExpression disease BEFREE Serum FSH levels were elevated (21.7 IU/l) compared to normal age-matched healthy male controls and patients with non-mosaic Klinefelter syndrome, and inhibin B levels were low-normal, in contrast to the usually undetectable inhibin B levels in adult Klinefelter patients. 17554105 2007
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
0.070 AlteredExpression disease BEFREE The patient showed the classic phenotype of Klinefelter syndrome but with low levels of FSH and LH. 21703612 2011