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: 54499
Gene Symbol: TMCO1
TMCO1
transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.100 None 0 1
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.040 None 1.000 4 0 2001 2014
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
anosmin 1 0.537 0.769 1.00
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.040 None 1.000 4 0 1993 2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.020 None 1.000 2 0 2000 2012
Entrez Id: 80000
Gene Symbol: GREB1L
GREB1L
GREB1 like retinoic acid receptor coactivator 0.686 0.423 1.00
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.020 None 1.000 2 0 2011 2012
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 11020
Gene Symbol: IFT27
IFT27
intraflagellar transport 27 0.670 0.462 5.9E-06
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 653590
Gene Symbol: GGTLC5P
GGTLC5P
gamma-glutamyltransferase light chain 5 pseudogene 0.513 0.846
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
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: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
HNF1 homeobox A 0.478 0.846 0.96
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
HNF1 homeobox B 0.473 0.808 1.00
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 728226
Gene Symbol: GGTLC3
GGTLC3
gamma-glutamyltransferase light chain family member 3 0.513 0.846
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 728441
Gene Symbol: GGT2
GGT2
gamma-glutamyltransferase 2 0.513 0.846 1.3E-04
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 729838
Gene Symbol: GGTLC4P
GGTLC4P
gamma-glutamyltransferase light chain 4 pseudogene 0.513 0.846
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10966
Gene Symbol: RAB40B
RAB40B
RAB40B, member RAS oncogene family 0.563 0.731 8.7E-06
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5914
Gene Symbol: RARA
RARA
retinoic acid receptor alpha 0.470 0.846 0.96
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 147111
Gene Symbol: NOTUM
NOTUM
notum, palmitoleoyl-protein carboxylesterase 0.821 0.192 2.2E-03
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5267
Gene Symbol: SERPINA4
SERPINA4
serpin family A member 4 0.641 0.654 9.7E-09
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 2668
Gene Symbol: GDNF
GDNF
glial cell derived neurotrophic factor 0.434 0.885 0.20
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2678
Gene Symbol: GGT1
GGT1
gamma-glutamyltransferase 1 0.496 0.885 7.5E-05
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 30812
Gene Symbol: SOX8
SOX8
SRY-box transcription factor 8 0.674 0.692 0.67
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.010 None 1.000 1 0 2011 2011