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: 3340
Gene Symbol: NDST1
NDST1
N-deacetylase and N-sulfotransferase 1 0.608 0.692 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 2 0 2005 2017
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
eukaryotic translation initiation factor 4A3 0.608 0.500 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 63906
Gene Symbol: GPATCH3
GPATCH3
G-patch domain containing 3 0.861 0.077 6.4E-14
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8364
Gene Symbol: H4C3
H4C3
H4 clustered histone 3 0.534 0.731 3.6E-04
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 8692
Gene Symbol: HYAL2
HYAL2
hyaluronidase 2 0.644 0.577 0.19
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 157506
Gene Symbol: RDH10
RDH10
retinol dehydrogenase 10 0.805 0.269 0.99
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 23256
Gene Symbol: SCFD1
SCFD1
sec1 family domain containing 1 0.839 0.192 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3157
Gene Symbol: HMGCS1
HMGCS1
3-hydroxy-3-methylglutaryl-CoA synthase 1 0.769 0.346 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462
zinc finger protein 462 0.711 0.462 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 780904
Gene Symbol: PSS
PSS
Potocki-Shaffer syndrome 0.608 0.654
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
treacle ribosome biogenesis factor 1 0.550 0.808 0.95
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.350 None 1.000 6 0 2000 2016
Entrez Id: 1749
Gene Symbol: DLX5
DLX5
distal-less homeobox 5 0.604 0.692 0.22
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 4 0 1999 2016
Entrez Id: 4330
Gene Symbol: MN1
MN1
MN1 proto-oncogene, transcriptional regulator 0.682 0.385 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.020 None 1.000 2 0 2015 2016
Entrez Id: 441509
Gene Symbol: GLRA4
GLRA4
glycine receptor alpha 4 (pseudogene) 1.000 0.038 9.4E-09
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 84678
Gene Symbol: KDM2B
KDM2B
lysine demethylase 2B 0.592 0.692 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
SIN3 transcription regulator family member A 0.551 0.692 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A
RNA polymerase I subunit A 0.682 0.538 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 28960
Gene Symbol: DCPS
DCPS
decapping enzyme, scavenger 0.612 0.538 2.5E-07
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1408
Gene Symbol: CRY2
CRY2
cryptochrome circadian regulator 2 0.599 0.692 3.2E-04
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 100126310
Gene Symbol: MIR876
MIR876
microRNA 876 0.666 0.385
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2113
Gene Symbol: ETS1
ETS1
ETS proto-oncogene 1, transcription factor 0.444 0.731 0.78
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.010 None 1.000 1 0 2015 2015