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: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.420 None 1.000 0 0 1998 2001
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1
Zic family member 1 0.545 0.731 0.93
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.400 None 1.000 0 0 2015 2015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.400 None 1.000 0 0 2007 2007
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
transcription factor 12 0.565 0.654 0.68
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.400 None 1.000 0 0 2013 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.110 None 1.000 0 0 1997 1997
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 1.00
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 6418
Gene Symbol: SET
SET
SET nuclear proto-oncogene 0.507 0.808 1.00
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
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: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
kinase D interacting substrate 220 0.534 0.769 7.4E-02
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
polycomb group ring finger 2 0.579 0.615 0.86
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
MAF bZIP transcription factor B 0.565 0.731 0.90
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
phosphatidylinositol glycan anchor biosynthesis class L 0.581 0.731 6.2E-09
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
neurexin 1 0.581 0.692 1.00
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3
post-GPI attachment to proteins phospholipase 3 0.628 0.731 1.9E-03
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0
Entrez Id: 84992
Gene Symbol: PIGY
PIGY
phosphatidylinositol glycan anchor biosynthesis class Y 0.628 0.577 9.7E-02
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.100 None 0 0