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: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
chimerin 1 0.573 0.615 3.1E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3
post-GPI attachment to proteins phospholipase 3 0.628 0.731 1.9E-03
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
nuclear factor I A 0.599 0.808 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
fibroblast growth factor 14 0.619 0.692 0.91
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 2
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
tubulin alpha 1a 0.597 0.769 0.97
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 1
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0 2
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None < 0.001 1 1 2010 2010
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
mitogen-activated protein kinase kinase kinase 7 0.477 0.808 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
MAF bZIP transcription factor B 0.565 0.731 0.90
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
Wnt family member 1 0.495 0.769 0.33
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.020 None 0.500 2 0 2013 2018
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
fibroblast growth factor 10 0.530 0.692 0.94
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.020 None 0.500 2 0 2005 2013
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
cysteine and glycine rich protein 3 0.572 0.731 1.6E-04
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.040 None 0.750 4 0 2004 2019
Entrez Id: 23406
Gene Symbol: COTL1
COTL1
coactosin like F-actin binding protein 1 0.615 0.538 3.9E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.040 None 0.750 4 0 2004 2019
Entrez Id: 810
Gene Symbol: CALML3
CALML3
calmodulin like 3 0.621 0.500 9.1E-04
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.040 None 0.750 4 0 2004 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.040 None 0.750 4 0 2004 2019
Entrez Id: 7039
Gene Symbol: TGFA
TGFA
transforming growth factor alpha 0.432 0.885 0.72
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 0.938 16 3 1993 2014