Source: HPO

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: 51256
Gene Symbol: TBC1D7
TBC1D7
TBC1 domain family member 7 0.729 0.385 2.9E-12
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.620 moderate 1.000 0 0 2013 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.500 strong 0.976 0 0 1998 2019
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.490 None 1.000 0 0 2012 2020
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
chromodomain helicase DNA binding protein 3 0.670 0.577 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.440 strong 1.000 0 0 2018 2019
Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3
bromodomain and WD repeat domain containing 3 0.716 0.538 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.430 strong 1.000 0 0 2007 2019
Entrez Id: 4781
Gene Symbol: NFIB
NFIB
nuclear factor I B 0.573 0.654 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.410 moderate 1.000 0 0 2018 2018
Entrez Id: 894
Gene Symbol: CCND2
CCND2
cyclin D2 0.477 0.808 0.99
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.400 None 1.000 0 0 2018 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.200 None 1.000 0 0 2012 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.200 None 1.000 0 0 2014 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.200 None 1.000 0 0 2015 2019
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.170 None 1.000 0 0 2013 2017
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
sprouty related EVH1 domain containing 1 0.644 0.577 0.97
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.140 None 1.000 0 0 2009 2016
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
modulator of VRAC current 1 0.585 0.769 3.2E-08
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.140 None 1.000 0 0 2011 2017
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.130 None 1.000 0 0 2005 2013
Entrez Id: 220296
Gene Symbol: HEPACAM
HEPACAM
hepatic and glial cell adhesion molecule 0.621 0.500 0.87
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.120 None 0.500 0 0 2011 2014
Entrez Id: 8925
Gene Symbol: HERC1
HERC1
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.674 0.500 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.120 None 1.000 0 0 2016 2016
Entrez Id: 11133
Gene Symbol: KPTN
KPTN
kaptin, actin binding protein 0.769 0.192 1.1E-05
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.120 None 1.000 0 0 2014 2015
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
phosphoinositide-3-kinase regulatory subunit 2 0.551 0.808 1.6E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.120 None 1.000 0 0 2015 2016
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 84197
Gene Symbol: POMK
POMK
protein O-mannose kinase 0.590 0.500 1.9E-08
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 8738
Gene Symbol: CRADD
CRADD
CASP2 and RIPK1 domain containing adaptor with death domain 0.619 0.500 0.88
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 5528
Gene Symbol: PPP2R5D
PPP2R5D
protein phosphatase 2 regulatory subunit B'delta 0.722 0.462 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2018 2018