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: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.503 0.769 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.390 None 1.000 10 1 2006 2019
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
interferon regulatory factor 6 0.486 0.769 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.200 None 0.944 18 4 1999 2019
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.110 None 1.000 2 2 2003 2017
Entrez Id: 2615
Gene Symbol: LRRC32
LRRC32
leucine rich repeat containing 32 0.619 0.577 1.1E-03
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.110 None 1.000 1 1 2019 2019
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.110 None 1.000 1 1 2003 2003
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
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
msh homeobox 1 0.525 0.731 0.17
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 1.000 15 1 1994 2013
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.100 None 1.000 1 1 2015 2015
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 2304
Gene Symbol: FOXE1
FOXE1
forkhead box E1 0.573 0.731 0.79
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.090 None 1.000 9 2 2002 2014
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
transforming growth factor beta 3 0.498 0.808 0.99
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.080 None 1.000 8 0 1999 2020