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: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.400 None 1.000 3 0 1996 2006
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.600 None 1.000 2 0 2002 2007
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.410 None 1.000 2 1 2000 2002
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 4239
Gene Symbol: MFAP4
MFAP4
microfibril associated protein 4 0.691 0.462 0.11
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
ephrin B1 0.561 0.769 0.93
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.400 None 1.000 1 0 2004 2004
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
transcription factor 12 0.565 0.654 0.68
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.600 None 1.000 1 0 2013 2013
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 4745
Gene Symbol: NELL1
NELL1
neural EGFL like 1 0.539 0.731 8.7E-12
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.300 None 1.000 1 0 2003 2003
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1
Zic family member 1 0.545 0.731 0.93
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.600 None 1.000 1 0 2015 2015
Entrez Id: 2077
Gene Symbol: ERF
ERF
ETS2 repressor factor 0.572 0.654 0.99
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.400 None 1.000 1 0 2013 2013
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9
trafficking protein particle complex 9 0.603 0.577 2.3E-14
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 64094
Gene Symbol: SMOC2
SMOC2
SPARC related modular calcium binding 2 0.670 0.462 2.5E-03
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 1
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0