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: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
Congenital bilateral aplasia of vas deferens
disease 1.000 strong 0.965 108 26 1992 2019
Entrez Id: 10149
Gene Symbol: ADGRG2
ADGRG2
adhesion G protein-coupled receptor G2 0.736 0.231 0.93
Congenital bilateral aplasia of vas deferens
disease 0.630 None 0.667 3 0 2016 2019
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
solute carrier family 9 member A3 0.612 0.615 0.98
Congenital bilateral aplasia of vas deferens
disease 0.030 None 1.000 3 0 2017 2019
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA
endothelin receptor type A 0.426 0.885 0.99
Congenital bilateral aplasia of vas deferens
disease 0.020 None 1.000 2 0 2010 2014
Entrez Id: 6476
Gene Symbol: SI
SI
sucrase-isomaltase 0.569 0.692 3.9E-60
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
solute carrier family 12 member 3 0.493 0.808 3.0E-32
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 1 2014 2014
Entrez Id: 7047
Gene Symbol: TGM4
TGM4
transglutaminase 4 0.769 0.231 3.8E-20
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
pantothenate kinase 2 0.559 0.808 7.4E-07
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 8600
Gene Symbol: TNFSF11
TNFSF11
TNF superfamily member 11 0.453 0.846 4.9E-03
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
maltase-glucoamylase 0.592 0.615 1.0E-35
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6406
Gene Symbol: SEMG1
SEMG1
semenogelin 1 0.628 0.615 0.36
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 54997
Gene Symbol: TESC
TESC
tescalcin 0.570 0.692 0.11
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 181
Gene Symbol: AGRP
AGRP
agouti related neuropeptide 0.488 0.769 7.0E-04
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
elastase, neutrophil expressed 0.447 0.846 1.2E-03
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2744
Gene Symbol: GLS
GLS
glutaminase 0.489 0.808 0.96
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
C-X-C motif chemokine ligand 8 0.310 0.962 2.7E-04
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
STT3 oligosaccharyltransferase complex catalytic subunit A 0.670 0.577 2.0E-03
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 450095
Gene Symbol: PLF
PLF
Pulmonary function 0.544 0.731
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
neurotrophic receptor tyrosine kinase 1 0.422 0.808 2.0E-06
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 5018
Gene Symbol: OXA1L
OXA1L
OXA1L mitochondrial inner membrane protein 0.590 0.731 1.9E-10
Congenital bilateral aplasia of vas deferens
disease 0.010 None 1.000 1 0 2018 2018