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 0.561 0.615 3.1E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.780 None 1.000 3 3 2003 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 3 9 2004 2019
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 0 1 2012 2019
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 18 12 2002 2017
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 4 2 2015 2019
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 12 22 2006 2017
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 2 2015 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 10 2011 2015
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 0 1 2008 2019
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.480 None 0.909 7 14 2007 2017
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
KIAA0753 0.631 0.577 1.6E-28
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.430 strong 0.800 1 4 2016 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 1 2015 2019
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.430 limited 1.000 0 2 2012 2019
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.410 None 1.000 7 3 2010 2017
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
B9 domain containing 2 0.606 0.577 5.3E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.410 None 1.000 1 4 2011 2015
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 2 5 2011 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.200 None 1.000 37 45 2006 2019
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.170 None 1.000 12 12 2008 2017
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.150 None 1.000 7 14 2006 2019
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D
phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.120 None 1.000 0 1 2014 2019
Entrez Id: 4025
Gene Symbol: LPO
LPO
lactoperoxidase 0.678 0.577 7.5E-17
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.100 None 1.000 2 2 2007 2015
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
clusterin associated protein 1 0.805 0.231 4.2E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.100 None 1.000 1 2 2017 2017
Entrez Id: 23186
Gene Symbol: RCOR1
RCOR1
REST corepressor 1 0.678 0.577 1.00
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
C2 domain containing 3 centriole elongation regulator 0.636 0.538 4.4E-19
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.100 None 1.000 1 3 2015 2015
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
intraflagellar transport 172 0.582 0.654 3.3E-33
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.100 None 1.000 1 1 2015 2015