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: 8828
Gene Symbol: NRP2
NRP2
neuropilin 2 0.539 0.615 8.1E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 0 1
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 0 1
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 0 1
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
NADH:ubiquinone oxidoreductase subunit B3 0.705 0.538 1.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 0 1
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 0 1
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 0.572 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 0 1
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 2 2 2001 2001
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: 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: 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: 6125
Gene Symbol: RPL5
RPL5
ribosomal protein L5 0.617 0.615 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 1 1 2008 2008
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: 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: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 17 1 1975 2012
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
ALX homeobox 4 0.560 0.692 0.36
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 6 1 2000 2012
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A
charged multivesicular body protein 1A 0.695 0.500 2.9E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 3 1 2001 2012
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
delta like canonical Notch ligand 4 0.494 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 22 1 1996 2013
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 17 1 1999 2013
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 16 2 1994 2013
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
sprouty related EVH1 domain containing 1 0.644 0.577 0.97
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 14 1 1988 2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 9 1 2002 2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 8 2 1968 2013
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 8 1 1999 2013
Entrez Id: 2324
Gene Symbol: FLT4
FLT4
fms related receptor tyrosine kinase 4 0.457 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 6 1 1998 2013