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: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.110 None 1.000 0 1 2012 2012
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 1.000 1 2 2017 2017
Entrez Id: 9993
Gene Symbol: DGCR2
DGCR2
DiGeorge syndrome critical region gene 2 0.623 0.731 5.2E-06
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
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: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 6664
Gene Symbol: SOX11
SOX11
SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 1
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
ALX homeobox 4 0.560 0.692 0.36
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
plectin 0.523 0.808 8.3E-12
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4
receptor interacting serine/threonine kinase 4 0.565 0.654 4.0E-03
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8
DGCR8 microprocessor complex subunit 0.579 0.731 1.00
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
NOP2/Sun RNA methyltransferase 2 0.559 0.846 2.6E-04
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 55012
Gene Symbol: PPP2R3C
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma 0.700 0.538 6.8E-09
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
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: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
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: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
histone deacetylase 4 0.484 0.885 1.00
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
gamma-aminobutyric acid type B receptor subunit 2 0.650 0.538 1.00
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.100 None 0 0