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: 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 1 2 2004 2019
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 1 2010 2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 1.000 2 1 2006 2006
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 1.000 2 1 2012 2015
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 2
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
oligophrenin 1 0.633 0.538 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 2
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 2
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 91949
Gene Symbol: COG7
COG7
component of oligomeric golgi complex 7 0.686 0.500 2.6E-07
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 2
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
adaptor related protein complex 4 subunit mu 1 0.638 0.500 4.5E-17
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 84083
Gene Symbol: ZRANB3
ZRANB3
zinc finger RANBP2-type containing 3 0.780 0.577 4.2E-21
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47
transmembrane protein 47 0.821 0.154 0.80
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 81857
Gene Symbol: MED25
MED25
mediator complex subunit 25 0.582 0.654 8.4E-07
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 2
Entrez Id: 56171
Gene Symbol: DNAH7
DNAH7
dynein axonemal heavy chain 7 0.769 0.346 1.4E-71
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 1