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: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.160 None 1.000 0 0 2005 2017
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.140 None 1.000 0 0 2010 2016
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
steroid 5 alpha-reductase 2 0.564 0.615
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.140 None 1.000 0 0 2003 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
fibroblast growth factor 8 0.507 0.769 0.68
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2
prokineticin receptor 2 0.538 0.731 2.4E-06
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR
gonadotropin releasing hormone receptor 0.540 0.654 6.8E-02
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
KISS1 receptor 0.515 0.769 0.44
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
Prader Willi/Angelman region RNA 1 0.490 0.769
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 10046
Gene Symbol: MAMLD1
MAMLD1
mastermind like domain containing 1 0.650 0.500 0.63
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
cytochrome P450 family 17 subfamily A member 1 0.462 0.769 2.6E-04
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
prokineticin 2 0.555 0.769 1.4E-02
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
small nuclear ribonucleoprotein polypeptide N 0.538 0.731 4.3E-02
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A
family with sequence similarity 111 member A 0.663 0.462 2.2E-03
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
T-box transcription factor 3 0.525 0.769 0.99
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
tubulin folding cofactor E 0.575 0.692 1.7E-08
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
tachykinin receptor 3 0.553 0.769 1.8E-17
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.100 None 0 0