Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 3640
Gene Symbol: INSL3
INSL3
0.030 GeneticVariation disease BEFREE In a small percentage of the study population, there was a statistically significant association between bilateral and persistent cryptorchidism and genetic alterations, including Klinefelter syndrome and INSL3 receptor gene mutations. 19017913 2008
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.020 GeneticVariation disease BEFREE All cases were diagnosed as Klinefelter's syndrome (one of them had mosaicism) cytogenetically, and some CFTR gene mutations were detected. 28685873 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.020 GeneticVariation disease BEFREE The authors described a unique patient with Klinefelter's syndrome who presented with deep vein thrombosis of the leg and underlying mutations of MTHFR gene, increased factor VIII coagulant activity and an elevated anticardiolipin antibody. 23377169 2013
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
0.020 GeneticVariation disease BEFREE Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes. 14752208 2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.020 GeneticVariation disease BEFREE Males who have MECP2 mutations and Klinefelter syndrome or who are mosaic for the mutation are more likely to present with a RTT-like phenotype. 11738861 2001
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
0.020 GeneticVariation disease BEFREE The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome. 30334491 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.020 GeneticVariation disease BEFREE Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. 28801929 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.020 GeneticVariation disease BEFREE Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelter's syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C. 20449891 2010
Entrez Id: 354
Gene Symbol: KLK3
KLK3
0.020 GeneticVariation disease BEFREE In this article, we report a case of adenocarcinoma of the prostate in a 56-year-old man with Klinefelter syndrome (47,XXY) and non-Hodgkin lymphoma, as well as the AR and PSA genotype. 15350307 2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.020 GeneticVariation disease BEFREE However, mutations in MECP2 also have been identified in normal carrier female individuals, female individuals with mild learning disabilities and features of Angelman syndrome, and male individuals with Klinefelter syndrome or Rett syndrome-like features, fatal neonatal encephalopathy, and familial X-linked mental retardation with or without motor abnormalities. 16225824 2005
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: 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: 2153
Gene Symbol: F5
F5
0.010 GeneticVariation disease BEFREE Severe venous thromboembolism in a young man with Klinefelter's syndrome and heterozygosis for both G20210A prothrombin and factor V Leiden mutations. 12544736 2003
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: 2149
Gene Symbol: F2R
F2R
0.010 GeneticVariation disease BEFREE Taken together, the uniqueness of the translocation, the rarity of severe prepubertal SLE in males, and the presence of SLE in some patients with Klinefelter's syndrome (who have a triplication of the 2 PAR regions) point to a possible relationship between the partial triplication of the PAR1 region and the development of SLE. 16575839 2006
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2
0.010 GeneticVariation disease BEFREE Taken together, the uniqueness of the translocation, the rarity of severe prepubertal SLE in males, and the presence of SLE in some patients with Klinefelter's syndrome (who have a triplication of the 2 PAR regions) point to a possible relationship between the partial triplication of the PAR1 region and the development of SLE. 16575839 2006
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: 10899
Gene Symbol: JTB
JTB
0.010 GeneticVariation disease BEFREE Taken together, the uniqueness of the translocation, the rarity of severe prepubertal SLE in males, and the presence of SLE in some patients with Klinefelter's syndrome (who have a triplication of the 2 PAR regions) point to a possible relationship between the partial triplication of the PAR1 region and the development of SLE. 16575839 2006
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.010 GeneticVariation disease BEFREE The application of the method on 200 patients resulted in the identification of 14 patients (7%) with Klinefelter syndrome or a variant form (2 SRY-positive 46,XX men), as well as an additional patient with 47,XYY karyotype. 17627384 2007
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
0.010 GeneticVariation disease BEFREE Taken together, the uniqueness of the translocation, the rarity of severe prepubertal SLE in males, and the presence of SLE in some patients with Klinefelter's syndrome (who have a triplication of the 2 PAR regions) point to a possible relationship between the partial triplication of the PAR1 region and the development of SLE. 16575839 2006
Entrez Id: 2147
Gene Symbol: F2
F2
0.010 GeneticVariation disease BEFREE Severe venous thromboembolism in a young man with Klinefelter's syndrome and heterozygosis for both G20210A prothrombin and factor V Leiden mutations. 12544736 2003
Entrez Id: 5009
Gene Symbol: OTC
OTC
0.010 GeneticVariation disease BEFREE We report on the novel association of OTC deficiency and Klinefelter syndrome with the additional interest of a probable unusual genetic defect underlying the OTC abnormality. 17186414 2007