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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 6093
Gene Symbol: ROCK1
ROCK1
Rho associated coiled-coil containing protein kinase 1 0.513 0.731 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 6259
Gene Symbol: RYK
RYK
receptor like tyrosine kinase 0.705 0.423 0.99
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 56999
Gene Symbol: ADAMTS9
ADAMTS9
ADAM metallopeptidase with thrombospondin type 1 motif 9 0.633 0.692 1.0E-06
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 635
Gene Symbol: BHMT
BHMT
betaine--homocysteine S-methyltransferase 0.595 0.731 3.7E-14
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6125
Gene Symbol: RPL5
RPL5
ribosomal protein L5 0.617 0.615 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2008 2008