Source: GENOMICS_ENGLAND

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 0 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 0 0 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 3 0 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 4 0 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 1 0 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 1 0 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 0 2015 2019
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 4 0 2011 2017
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 2 0 2011 2015
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 3 0 2014 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 0 0 2015 2019
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: 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: 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 3 0 2005 2016
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 1 0 2011 2012
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 1 0 2007 2017
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 2 0 2012 2019
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 2 0 2016 2019
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 2 0 2011 2015
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 1 0 2010 2017
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.340 limited 1.000 1 0 2011 2018
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
tectonic family member 3 0.566 0.615 4.2E-12
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.320 None 1.000 2 0 2012 2015
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
POC1 centriolar protein B 0.705 0.385 3.0E-08
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.310 moderate 1.000 2 0 2014 2018
Entrez Id: 317662
Gene Symbol: FAM149B1
FAM149B1
family with sequence similarity 149 member B1 0.663 0.423 2.5E-13
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
transmembrane protein 138 0.656 0.385 4.7E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease 0.300 limited 1.000 1 0 2012 2012