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: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.630 0.552 3.8E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.760 1.000 0 0 2003 2018
Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1
tectonic family member 1 0.685 0.517 1.5E-14
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.520 1.000 0 0 2011 2017
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.565 0.793 1.0E-24
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.500 0.950 0 0 2004 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.559 0.655 1.9E-23
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.470 0.857 0 0 2002 2018
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.633 0.586
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.460 1.000 0 0 2012 2018
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Meckel syndrome, type 1 0.546 0.690 4.6E-16
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.450 1.000 0 0 2006 2017
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.659 0.517 1.2E-13
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.440 1.000 0 0 2013 2016
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556
KIAA0556 0.720 0.448 6.5E-29
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.410 1.000 0 0 2016 2016
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
transmembrane protein 237 0.652 0.345 1.6E-12
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.410 1.000 0 0 1993 2012
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
tectonic family member 2 0.630 0.517 6.8E-14
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.400 0 0 2013 2016
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
ADP ribosylation factor like GTPase 13B 0.752 0.345 6.1E-08
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.400 1.000 0 0 2008 2016
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1
progesterone immunomodulatory binding factor 1 0.752 0.414 2.7E-11
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.400 0 0 2015 2015
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.633 0.586 2.9E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.400 0 0 2016 2016
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.630 0.586 5.2E-25
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.350 1.000 0 0 2014 2016
Entrez Id: 95681
Gene Symbol: CEP41
CEP41
centrosomal protein 41 0.727 0.379 4.5E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.310 1.000 0 0 2012 2012
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
armadillo repeat containing 9 0.676 0.655 9.3E-16
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.310 1.000 0 0 2017 2017
Entrez Id: 9731
Gene Symbol: CEP104
CEP104
centrosomal protein 104 0.785 0.310 6.6E-12
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.310 1.000 0 0 2016 2016
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
centrosomal protein 120 0.663 0.448 1.8E-14
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.300 0 0
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1
HYLS1, centriolar and ciliogenesis associated 0.645 0.552 3.1E-09
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.300 0 0