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: 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: 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: 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: 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: 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: 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: 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: 60529
Gene Symbol: ALX4
ALX4
ALX homeobox 4 0.560 0.692 0.36
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.400 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.400 None 0 0
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: 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: 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: 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: 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: 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: 4091
Gene Symbol: SMAD6
SMAD6
SMAD family member 6 0.579 0.731 3.6E-20
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.300 None 0 0
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
FRAS1 related extracellular matrix 1 0.633 0.423 1.6E-52
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.300 None 0 0
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: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
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
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
FKBP prolyl isomerase 10 0.606 0.538 2.4E-06
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 54476
Gene Symbol: RNF216
RNF216
ring finger protein 216 0.670 0.615 2.3E-06
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0