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: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.400 strong 1.000 0 0 1996 1996
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.565 0.731 5.1E-16
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 6913
Gene Symbol: TBX15
TBX15
T-box transcription factor 15 0.603 0.500 0.66
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 6603
Gene Symbol: SMARCD2
SMARCD2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 0.700 0.385 6.5E-05
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 6228
Gene Symbol: RPS23
RPS23
ribosomal protein S23 0.700 0.500 0.86
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 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: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
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: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS
N-acetylneuraminate synthase 0.545 0.692
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 53834
Gene Symbol: FGFRL1
FGFRL1
fibroblast growth factor receptor like 1 0.588 0.615 1.2E-02
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 7467
Gene Symbol: WHCR
WHCR
Wolf-Hirschhorn syndrome chromosome region 0.638 0.577
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4
FERM and PDZ domain containing 4 0.674 0.423 1.00
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
RAB11B, member RAS oncogene family 0.691 0.538 0.44
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 91949
Gene Symbol: COG7
COG7
component of oligomeric golgi complex 7 0.686 0.500 2.6E-07
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
ubiquitin protein ligase E3B 0.590 0.692 4.2E-08
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype 0.100 None 0 0