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: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 1.000 None 0.960 50 2 1996 2019
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.600 None 0.900 20 1 1996 2012
Entrez Id: 1399
Gene Symbol: CRKL
CRKL
CRK like proto-oncogene, adaptor protein 0.553 0.769 0.45
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.500 None 1.000 2 0 2001 2006
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
DiGeorge syndrome chromosome region 0.678 0.538
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.400 None 0.963 27 0 1996 2019
Entrez Id: 7290
Gene Symbol: HIRA
HIRA
histone cell cycle regulator 0.537 0.808 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.340 None 1.000 5 0 1998 2018
Entrez Id: 7353
Gene Symbol: UFD1
UFD1
ubiquitin recognition factor in ER associated degradation 1 0.537 0.769 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.320 None 0.500 2 0 1998 2001
Entrez Id: 8214
Gene Symbol: DGCR6
DGCR6
DiGeorge syndrome critical region gene 6 0.695 0.500 9.8E-12
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.310 None 1.000 1 0 2005 2005
Entrez Id: 9993
Gene Symbol: DGCR2
DGCR2
DiGeorge syndrome critical region gene 2 0.623 0.731 5.2E-06
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.310 None 1.000 1 0 2000 2000
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8
DGCR8 microprocessor complex subunit 0.579 0.731 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.310 None 1.000 1 0 2003 2003
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 221037
Gene Symbol: JMJD1C
JMJD1C
jumonji domain containing 1C 0.517 0.769 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C
SEC24 homolog C, COPII coat complex component 0.543 0.808 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF
ARVCF delta catenin family member 0.540 0.769 5.0E-11
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.300 None 0 0
Entrez Id: 8220
Gene Symbol: ESS2
ESS2
ess-2 splicing factor homolog 0.670 0.615 2.4E-07
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.300 None 0 0
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.300 None 0 0
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA
endothelin receptor type A 0.426 0.885 0.99
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.200 None 1.000 1 0 1998 1998
Entrez Id: 8646
Gene Symbol: CHRD
CHRD
chordin 0.760 0.346 3.8E-05
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.200 None 1.000 1 0 2003 2003
Entrez Id: 7109
Gene Symbol: TRAPPC10
TRAPPC10
trafficking protein particle complex 10 0.769 0.385 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.200 None 0 0
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
prickle planar cell polarity protein 1 0.647 0.615 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.200 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.200 None 0 0
Entrez Id: 2928
Gene Symbol: GSC2
GSC2
goosecoid homeobox 2 0.890 0.269 4.4E-03
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.040 None 1.000 4 0 1997 1998
Entrez Id: 5625
Gene Symbol: PRODH
PRODH
proline dehydrogenase 1 0.612 0.692 5.4E-12
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.040 None 1.000 4 0 2005 2016
Entrez Id: 51586
Gene Symbol: MED15
MED15
mediator complex subunit 15 0.623 0.654 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.030 None 1.000 3 0 2001 2012
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 0.020 None 0.500 2 0 2003 2008