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: 4528
Gene Symbol: MTIF2
MTIF2
mitochondrial translational initiation factor 2 1.000 3.7E-10
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 0 1
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
IQ motif containing E 0.805 0.115 1.4E-39
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 12 1 1986 2017
Entrez Id: 91461
Gene Symbol: PKDCC
PKDCC
protein kinase domain containing, cytoplasmic 0.821 0.154 2.1E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 5 1 2009 2014
Entrez Id: 3859
Gene Symbol: KRT12
KRT12
keratin 12 0.751 0.192 2.5E-14
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 2 1 1997 2008
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
methyltransferase like 23 0.682 0.231 1.3E-07
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 2 1 2014 2014
Entrez Id: 414152
Gene Symbol: C10orf105
C10orf105
chromosome 10 open reading frame 105 0.861 0.231 8.4E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 2 1 2001 2001
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
coenzyme Q4 0.780 0.269 3.4E-09
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 13 2 2005 2017
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
collagen type XXVII alpha 1 chain 0.780 0.269 0.59
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 13 3 1994 2017
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 4 1 2000 2007
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR
heterogeneous nuclear ribonucleoprotein R 0.722 0.308 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 18 1 1998 2014
Entrez Id: 25806
Gene Symbol: VAX2
VAX2
ventral anterior homeobox 2 0.769 0.308 0.16
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 9 2 1995 2017
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 5 1 2013 2015
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1
ATPase H+ transporting V1 subunit B1 0.695 0.346 2.4E-09
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 9 2 1995 2017
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
myosin XVA 0.722 0.346 1.3E-56
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 6 2 1995 2016
Entrez Id: 441151
Gene Symbol: TMEM151B
TMEM151B
transmembrane protein 151B 0.792 0.346 0.14
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 4 2 2011 2014
Entrez Id: 4330
Gene Symbol: MN1
MN1
MN1 proto-oncogene, transcriptional regulator 0.682 0.385 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 14 1 1995 2014
Entrez Id: 6307
Gene Symbol: MSMO1
MSMO1
methylsterol monooxygenase 1 0.729 0.385 9.0E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 8 1 1996 2015
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0.716 0.385 1.5E-16
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 7 2 2009 2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 13 2 1995 2011
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 10 1 2010 2017
Entrez Id: 124976
Gene Symbol: SPNS2
SPNS2
sphingolipid transporter 2 0.729 0.423 1.2E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 3 1 2009 2017
Entrez Id: 388650
Gene Symbol: DIPK1A
DIPK1A
divergent protein kinase domain 1A 0.743 0.423 0.58
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 1 1 2008 2008
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 15 2 2006 2017
Entrez Id: 22880
Gene Symbol: MORC2
MORC2
MORC family CW-type zinc finger 2 0.626 0.462 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 10 1 2016 2017
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
mannosidase alpha class 2B member 1 0.674 0.462 4.8E-22
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 6 2 1981 2015