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: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.390 None 1.000 9 0 1997 2012
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.360 None 1.000 6 1 2001 2011
Entrez Id: 7290
Gene Symbol: HIRA
HIRA
histone cell cycle regulator 0.537 0.808 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.320 None 1.000 2 0 2004 2016
Entrez Id: 7353
Gene Symbol: UFD1
UFD1
ubiquitin recognition factor in ER associated degradation 1 0.537 0.769 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.320 None 1.000 2 0 1999 2001
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.310 None 1.000 1 0 2019 2019
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
fibroblast growth factor 8 0.507 0.769 0.68
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.310 None 1.000 1 0 2002 2002
Entrez Id: 5625
Gene Symbol: PRODH
PRODH
proline dehydrogenase 1 0.612 0.692 5.4E-12
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.020 None 1.000 2 1 2008 2015
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
DiGeorge syndrome chromosome region 0.678 0.538
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.020 None 1.000 2 0 2002 2002
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8
DGCR8 microprocessor complex subunit 0.579 0.731 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6615
Gene Symbol: SNAI1
SNAI1
snail family transcriptional repressor 1 0.474 0.808 0.22
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 7122
Gene Symbol: CLDN5
CLDN5
claudin 5 0.559 0.769 0.90
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 100526833
Gene Symbol: SEPT5-GP1BB
SEPT5-GP1BB
SEPT5-GP1BB readthrough 0.890 0.192
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
C-X-C motif chemokine receptor 4 0.362 0.923 1.8E-02
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 8646
Gene Symbol: CHRD
CHRD
chordin 0.760 0.346 3.8E-05
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 414
Gene Symbol: ARSD
ARSD
arylsulfatase D 0.535 0.808 1.6E-03
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 406961
Gene Symbol: MIR185
MIR185
microRNA 185 0.551 0.808
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1055
Gene Symbol: CECR
CECR
cat eye syndrome chromosome region 0.599 0.731
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
thioredoxin reductase 2 0.548 0.731 3.5E-11
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1399
Gene Symbol: CRKL
CRKL
CRK like proto-oncogene, adaptor protein 0.553 0.769 0.45
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 144195
Gene Symbol: SLC2A14
SLC2A14
solute carrier family 2 member 14 0.821 0.308 4.1E-02
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 23119
Gene Symbol: HIC2
HIC2
HIC ZBTB transcriptional repressor 2 0.861 0.308 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2550
Gene Symbol: GABBR1
GABBR1
gamma-aminobutyric acid type B receptor subunit 1 0.587 0.769 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 29801
Gene Symbol: ZDHHC8
ZDHHC8
zinc finger DHHC-type palmitoyltransferase 8 0.769 0.346 0.85
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.010 None 1.000 1 0 2005 2005