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: 7049
Gene Symbol: TGFBR3
TGFBR3
transforming growth factor beta receptor 3 0.550 0.808 3.1E-03
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.030 None 1.000 3 0 2012 2019
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
insulin like 3 0.604 0.538 1.6E-02
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.020 None 1.000 2 0 2006 2009
Entrez Id: 655
Gene Symbol: BMP7
BMP7
bone morphogenetic protein 7 0.498 0.769 0.13
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.020 None 1.000 2 0 2012 2019
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.020 None 1.000 2 0 2008 2009
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.020 None 1.000 2 0 2009 2013
Entrez Id: 6581
Gene Symbol: SLC22A3
SLC22A3
solute carrier family 22 member 3 0.531 0.846 7.8E-10
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 1761
Gene Symbol: DMRT1
DMRT1
doublesex and mab-3 related transcription factor 1 0.559 0.654 0.74
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 790
Gene Symbol: CAD
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 0.482 0.846 1.00
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 645682
Gene Symbol: POU5F1P4
POU5F1P4
POU class 5 homeobox 1 pseudogene 4 0.452 0.808
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 642559
Gene Symbol: POU5F1P3
POU5F1P3
POU class 5 homeobox 1 pseudogene 3 0.452 0.808
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 578
Gene Symbol: BAK1
BAK1
BCL2 antagonist/killer 1 0.555 0.769 7.4E-06
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5460
Gene Symbol: POU5F1
POU5F1
POU class 5 homeobox 1 0.441 0.846 0.95
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
KIT ligand 0.473 0.885 0.85
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 268
Gene Symbol: AMH
AMH
anti-Mullerian hormone 0.476 0.846 3.4E-12
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
estrogen receptor 2 0.400 0.923 4.5E-08
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 81848
Gene Symbol: SPRY4
SPRY4
sprouty RTK signaling antagonist 4 0.553 0.769 4.8E-04
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
disease 0.010 None 1.000 1 0 2019 2019