Source: ALL

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: 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 1 0 2020 2020
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 1 0 2018 2018
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 1 0 2016 2016
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 1 0 2016 2016
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 1 0 2020 2020
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 1 0 2018 2018
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 1 0 2018 2018
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
RAB39B, member RAS oncogene family 0.619 0.615 0.83
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 1 0 2010 2010
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 1 1 2005 2005
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
p21 (RAC1) activated kinase 3 0.569 0.731 0.99
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
chromodomain helicase DNA binding protein 4 0.593 0.654 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 1 0 2019 2019
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None < 0.001 1 0 2015 2015
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
nuclear factor I A 0.599 0.808 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 1 0 2010 2010
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
nuclear factor I X 0.547 0.769 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 1 0 2018 2018
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 1 0 2016 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 1 0 2012 2012
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
msh homeobox 2 0.539 0.769 0.26
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 443
Gene Symbol: ASPA
ASPA
aspartoacylase 0.564 0.731 4.1E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
myotubularin 1 0.573 0.731 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
parathyroid hormone like hormone 0.453 0.846 0.81
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 4591
Gene Symbol: TRIM37
TRIM37
tripartite motif containing 37 0.610 0.654 9.7E-12
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0