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: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.110 None 1.000 0 0 2006 2006
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
dishevelled binding antagonist of beta catenin 1 0.547 0.692 0.40
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
spalt like transcription factor 1 0.539 0.808 1.00
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 63916
Gene Symbol: ELMO2
ELMO2
engulfment and cell motility 2 0.729 0.538 1.0E-05
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 6418
Gene Symbol: SET
SET
SET nuclear proto-oncogene 0.507 0.808 1.00
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 57222
Gene Symbol: ERGIC1
ERGIC1
endoplasmic reticulum-golgi intermediate compartment 1 0.700 0.423 0.65
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
phospholipase C beta 4 0.610 0.731 3.0E-06
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
FA complementation group L 0.551 0.731 5.9E-23
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
ring finger and WD repeat domain 3 0.569 0.731 3.5E-10
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
FA complementation group I 0.543 0.731 8.9E-37
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0
Entrez Id: 6608
Gene Symbol: SMO
SMO
smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 0 0