Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6497
Gene Symbol: SKI
SKI
P12755 SKI proto-oncogene 255 0.503 0.808 1.00 0.740 definitive 1.000 6 14 2002 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.530 strong 1.000 7 0 1993 2018
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.100 None 0.981 52 0 1995 2019
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
DiGeorge syndrome chromosome region 38 0.678 0.538 0.100 None 1.000 23 0 1995 2019
Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP
Q96EK5 kinesin family binding protein 83 0.615 0.731 7.6E-02 0.100 None 0 4
Entrez Id: 7290
Gene Symbol: HIRA
HIRA
P54198 histone cell cycle regulator Nucleic acid binding 157 0.537 0.808 1.00 0.090 None 1.000 9 0 1993 2006
Entrez Id: 1312
Gene Symbol: COMT
COMT
P21964 catechol-O-methyltransferase Enzyme 622 0.400 0.923 1.1E-06 0.070 None 0.857 7 0 1999 2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.060 None 1.000 6 0 1988 2019
Entrez Id: 8214
Gene Symbol: DGCR6
DGCR6
Q14129 DiGeorge syndrome critical region gene 6 38 0.695 0.500 9.8E-12 0.040 None 1.000 4 0 1996 2010
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8
Q8WYQ5 DGCR8 microprocessor complex subunit 101 0.579 0.731 1.00 0.040 None 1.000 4 0 2003 2018
Entrez Id: 8026
Gene Symbol: DGS2
DGS2
DiGeorge syndrome/velocardiofacial syndrome complex 2 5 0.839 0.423 0.030 None 1.000 3 0 1998 2011
Entrez Id: 9993
Gene Symbol: DGCR2
DGCR2
P98153 DiGeorge syndrome critical region gene 2 77 0.623 0.731 5.2E-06 0.030 None 1.000 3 0 2001 2018
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2009 2013
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
P37173 transforming growth factor beta receptor 2 Kinase 502 0.413 0.846 0.13 0.020 None 1.000 2 0 2007 2008
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
P53007 solute carrier family 25 member 1 Transporter 168 0.553 0.731 5.9E-02 0.020 None 1.000 2 0 1996 1996
Entrez Id: 1399
Gene Symbol: CRKL
CRKL
P46109 CRK like proto-oncogene, adaptor protein 140 0.553 0.769 0.45 0.020 None 1.000 2 0 2001 2019
Entrez Id: 7353
Gene Symbol: UFD1
UFD1
Q92890 ubiquitin recognition factor in ER associated degradation 1 148 0.537 0.769 1.00 0.020 None 1.000 2 0 1997 1999
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
Q99593 T-box transcription factor 5 Transcription factor 170 0.528 0.769 1.00 0.020 None 0.500 2 0 2003 2008
Entrez Id: 5625
Gene Symbol: PRODH
PRODH
O43272 proline dehydrogenase 1 Enzyme 85 0.612 0.692 5.4E-12 0.020 None 1.000 2 0 1996 2005
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
O75419 cell division cycle 45 Nucleic acid binding 102 0.588 0.692 4.6E-05 0.020 None 1.000 2 0 1998 1999
Entrez Id: 7625
Gene Symbol: ZNF74
ZNF74
Q16587 zinc finger protein 74 5 0.839 0.423 1.6E-06 0.020 None 1.000 2 0 1999 2001
Entrez Id: 100130418
Gene Symbol: CECR7
CECR7
cat eye syndrome chromosome region, candidate 7 3 0.890 0.308 0.010 None 1.000 1 0 2006 2006
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
P43403 zeta chain of T cell receptor associated protein kinase 70 Kinase 212 0.497 0.769 0.88 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5880
Gene Symbol: RAC2
RAC2
P15153 Rac family small GTPase 2 Enzyme modulator 119 0.556 0.731 0.97 0.010 None 1.000 1 0 2009 2009
Entrez Id: 939
Gene Symbol: CD27
CD27
P26842 CD27 molecule 154 0.517 0.692 1.0E-02 0.010 None 1.000 1 0 2006 2006