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: 80856
Gene Symbol: LNPK
LNPK
lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.400 moderate 1.000 0 0 2018 2018
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.200 None 1.000 0 0 2004 2019
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.615 4.7E-23
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.180 None 1.000 0 0 2009 2019
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 0.530 0.692 0.98
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.120 None 1.000 0 0 2010 2013
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
glucosylceramidase beta 2 0.636 0.654 2.0E-20
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.120 None 1.000 0 0 2010 2015
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
nuclear factor I A 0.599 0.808 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.120 None 1.000 0 0 2010 2014
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.120 None 1.000 0 0 2011 2012
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.120 None 1.000 0 0 2010 2013
Entrez Id: 22978
Gene Symbol: NT5C2
NT5C2
5'-nucleotidase, cytosolic II 0.537 0.846 2.1E-06
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
ubiquitin specific peptidase 9 X-linked 0.502 0.846 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.573 0.654 0.15
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
cytochrome P450 family 2 subfamily U member 1 0.722 0.462 1.4E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
WD repeat domain 62 0.597 0.615 2.4E-23
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
DDHD domain containing 2 0.695 0.577 1.4E-10
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4
solute carrier family 1 member 4 0.700 0.385 6.6E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 133686
Gene Symbol: NADK2
NADK2
NAD kinase 2, mitochondrial 0.691 0.346 6.5E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
RNA polymerase III subunit B 0.628 0.654 1.7E-23
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 10564
Gene Symbol: ARFGEF2
ARFGEF2
ADP ribosylation factor guanine nucleotide exchange factor 2 0.659 0.462 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 0
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
tubulin folding cofactor E 0.575 0.692 1.7E-08
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 0
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 0