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: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
transmembrane protein 87B 0.861 0.115 3.7E-13
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
TATA-box binding protein associated factor 6 0.769 0.308 8.3E-09
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
ALX homeobox 4 0.560 0.692 0.36
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
SRY-box transcription factor 10 0.461 0.808 0.99
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 6492
Gene Symbol: SIM1
SIM1
SIM bHLH transcription factor 1 0.626 0.654 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335
zinc finger protein 335 0.711 0.462 6.9E-07
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 5649
Gene Symbol: RELN
RELN
reelin 0.515 0.731 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0