Source: HPO

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: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.410 None 1.000 0 0 2009 2009
Entrez Id: 867
Gene Symbol: CBL
CBL
Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.410 None 1.000 0 0 2010 2015
Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3
cholinergic receptor muscarinic 3 0.464 0.885 0.99
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.400 None 1.000 0 0 2011 2011
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 0.582 0.500 7.2E-08
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.400 None 1.000 0 0 2015 2015
Entrez Id: 412
Gene Symbol: STS
STS
steroid sulfatase 0.431 0.846 0.81
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.310 None 0.500 0 0 1989 2006
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.200 None 1.000 0 0 1998 2018
Entrez Id: 268
Gene Symbol: AMH
AMH
anti-Mullerian hormone 0.476 0.846 3.4E-12
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.180 None 1.000 0 0 2003 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.160 None 1.000 0 0 2006 2015
Entrez Id: 1617
Gene Symbol: DAZ1
DAZ1
deleted in azoospermia 1 0.705 0.385
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.140 None 1.000 0 0 1998 2007
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.140 None 1.000 0 0 2008 2015
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.130 None 1.000 0 0 2003 2019
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.130 None 1.000 0 0 2001 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.120 None 1.000 0 0 2001 2016
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
homeobox D13 0.483 0.808 8.6E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.120 None 1.000 0 0 2007 2017
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.120 None 1.000 0 0 2010 2019
Entrez Id: 269
Gene Symbol: AMHR2
AMHR2
anti-Mullerian hormone receptor type 2 0.638 0.423 2.7E-10
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.120 None 1.000 0 0 2013 2019
Entrez Id: 7490
Gene Symbol: WT1
WT1
WT1 transcription factor 0.422 0.808 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.120 None 1.000 0 0 1998 1999
Entrez Id: 5940
Gene Symbol: RBMY1A1
RBMY1A1
RNA binding motif protein Y-linked family 1 member A1 0.736 0.423 0.29
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
Prader Willi/Angelman region RNA 1 0.490 0.769
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 8726
Gene Symbol: EED
EED
embryonic ectoderm development 0.588 0.615 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
anosmin 1 0.537 0.769 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
GATA binding protein 4 0.458 0.846 0.49
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
KISS1 receptor 0.515 0.769 0.44
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.110 None 1.000 0 0 2016 2016