Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
nuclear receptor subfamily 0 group B member 1 0.494 0.808 0.97
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.100 None 0.970 67 2 1994 2019
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR
gonadotropin releasing hormone receptor 0.540 0.654 6.8E-02
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.100 None 0.963 27 5 1999 2017
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
bromodomain containing 2 0.450 0.808 1.00
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.100 None 1.000 22 0 1975 2019
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
KISS1 receptor 0.515 0.769 0.44
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.100 None 0.923 13 0 2005 2019
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.100 None 0.917 12 2 2001 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.100 None 1.000 11 0 2004 2020
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
anosmin 1 0.537 0.769 1.00
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.070 None 1.000 7 0 1987 2016
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.070 None 1.000 7 0 2006 2018
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.060 None 0.833 6 0 2011 2018
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
PROP paired-like homeobox 1 0.576 0.615 8.8E-02
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.060 None 1.000 6 0 1999 2013
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.050 None 1.000 5 0 2002 2019
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.050 None 1.000 5 0 2009 2020
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.050 None 1.000 5 0 2000 2018
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
prokineticin 2 0.555 0.769 1.4E-02
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.040 None 1.000 4 0 2007 2010
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1
gonadotropin releasing hormone 1 0.524 0.731 0.15
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.040 None 1.000 4 0 2009 2019
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
RNA polymerase III subunit B 0.628 0.654 1.7E-23
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.040 None 0.750 4 0 2013 2015
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2
prokineticin receptor 2 0.538 0.731 2.4E-06
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.040 None 1.000 4 2 2008 2012
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
leptin receptor 0.433 0.808 0.99
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.030 None 1.000 3 0 1999 2015
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
tachykinin receptor 3 0.553 0.769 1.8E-17
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.030 None 1.000 3 0 2009 2016
Entrez Id: 268
Gene Symbol: AMH
AMH
anti-Mullerian hormone 0.476 0.846 3.4E-12
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.030 None 1.000 3 0 2004 2020
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.030 None 1.000 3 0 2010 2019
Entrez Id: 560
Gene Symbol: AZF1
AZF1
azoospermia factor 1 0.711 0.269
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.030 None 0.667 3 0 2015 2020
Entrez Id: 5617
Gene Symbol: PRL
PRL
prolactin 0.406 0.885 2.9E-07
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.030 None 1.000 3 0 2018 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.030 None 1.000 3 0 2004 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease 0.030 None 1.000 3 0 2010 2019