Source: CLINVAR

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: 27031
Gene Symbol: NPHP3
NPHP3
nephrocystin 3 0.597 0.654 9.8E-16
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.500 None 1.000 7 14 2001 2017
Entrez Id: 27130
Gene Symbol: INVS
INVS
inversin 0.619 0.538 5.6E-18
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.500 strong 1.000 3 9 2002 2018
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
nephrocystin 1 0.572 0.731 1.2E-17
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.500 None 0.976 2 5 1994 2019
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
nephrocystin 4 0.674 0.423 1.7E-29
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.490 strong 1.000 3 5 2002 2019
Entrez Id: 84662
Gene Symbol: GLIS2
GLIS2
GLIS family zinc finger 2 0.608 0.462 0.86
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.490 moderate 1.000 0 2 2007 2020
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.430 None 1.000 2 4 2006 2012
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.430 strong 1.000 0 2 2011 2017
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
tetratricopeptide repeat domain 21B 0.619 0.654 2.7E-26
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.420 strong 1.000 2 3 2011 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.160 None 1.000 37 42 2006 2018
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.140 None 1.000 12 7 2005 2018
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.110 None 1.000 7 14 2003 2016
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.110 None 1.000 4 2 2002 2010
Entrez Id: 100506134
Gene Symbol: TTC21B-AS1
TTC21B-AS1
TTC21B antisense RNA 1 0.769 0.346
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.100 None 1.000 2 1 2011 2014
Entrez Id: 25766
Gene Symbol: PRPF40B
PRPF40B
pre-mRNA processing factor 40 homolog B 0.821 0.269 1.00
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8554
Gene Symbol: PIAS1
PIAS1
protein inhibitor of activated STAT 1 0.633 0.731 1.00
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 84070
Gene Symbol: FAM186B
FAM186B
family with sequence similarity 186 member B 1.000 0.077 5.5E-24
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 84060
Gene Symbol: RBM48
RBM48
RNA binding motif protein 48 1.000 0.077 1.5E-07
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 3619
Gene Symbol: INCENP
INCENP
inner centromere protein 0.700 0.346 0.89
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 348808
Gene Symbol: NPHP3-AS1
NPHP3-AS1
NPHP3 antisense RNA 1 1.000 0.077
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.100 None 0 2
Entrez Id: 27152
Gene Symbol: INTU
INTU
inturned planar cell polarity protein 0.555 0.769 7.7E-10
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.100 None 0 1
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.100 None 0 1
Entrez Id: 51025
Gene Symbol: PAM16
PAM16
presequence translocase associated motor 16 0.729 0.462 0.24
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.100 None 0 2