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: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.660 None 1.000 1 0 2006 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.680 None 1.000 1 0 2002 2017
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.700 None 0.969 1 0 2004 2019
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.550 None 1.000 2 0 2014 2019
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.780 None 1.000 1 0 2003 2017
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
centrosomal protein 120 0.564 0.731 4.1E-15
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.330 None 1.000 1 0 2016 2019
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.565 0.731 5.1E-16
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.670 None 1.000 1 0 2015 2019
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1
HYLS1 centriolar and ciliogenesis associated 0.572 0.692 2.3E-09
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.510 None 1.000 1 0 2005 2016
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.400 None 1.000 1 0 2011 2015
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.690 None 1.000 2 0 2012 2019
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
tectonic family member 2 0.578 0.654 1.8E-14
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.600 limited 1.000 1 0 2011 2015
Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1
tectonic family member 1 0.597 0.615 1.1E-15
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.610 None 1.000 1 0 2011 2017
Entrez Id: 403
Gene Symbol: ARL3
ARL3
ADP ribosylation factor like GTPase 3 0.603 0.615 1.4E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.330 None 1.000 1 0 2014 2018
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.510 None 1.000 2 0 2011 2012
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
armadillo repeat containing 9 0.612 0.731 6.2E-17
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.520 strong 1.000 1 0 2017 2018
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.500 None 1.000 1 0 2008 2019
Entrez Id: 95681
Gene Symbol: CEP41
CEP41
centrosomal protein 41 0.636 0.500 3.6E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.520 limited 1.000 1 0 2012 2019
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556
KIAA0556 0.644 0.538 1.2E-29
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.430 None 1.000 1 0 2015 2019
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1
progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.620 limited 0.667 1 0 2015 2019
Entrez Id: 9731
Gene Symbol: CEP104
CEP104
centrosomal protein 104 0.670 0.423 1.2E-12
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.530 None 1.000 1 0 2015 2019