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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.800 None 1.000 23 13 2002 2018
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.310 None 1.000 1 0 2008 2008
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.100 None 1.000 12 3 2003 2019
Entrez Id: 23411
Gene Symbol: SIRT1
SIRT1
sirtuin 1 0.378 0.885 8.7E-02
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
coiled-coil domain containing 6 0.517 0.808 0.58
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 632
Gene Symbol: BGLAP
BGLAP
bone gamma-carboxyglutamate protein 0.462 0.846 4.6E-08
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 5726
Gene Symbol: TAS2R38
TAS2R38
taste 2 receptor member 38 0.531 0.808 0.13
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
DNA polymerase delta 1, catalytic subunit 0.507 0.769 2.4E-06
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4084
Gene Symbol: MXD1
MXD1
MAX dimerization protein 1 0.564 0.692 0.23
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2158
Gene Symbol: F9
F9
coagulation factor IX 0.465 0.885 1.00
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
adenosine monophosphate deaminase 1 0.573 0.692 1.9E-21
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 25777
Gene Symbol: SUN2
SUN2
Sad1 and UNC84 domain containing 2 0.691 0.423 1.9E-08
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 84823
Gene Symbol: LMNB2
LMNB2
lamin B2 0.636 0.615 1.00
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease 0.010 None 1.000 1 0 2007 2007