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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 0.980 49 2 1996 2019
Entrez Id: 4602
Gene Symbol: MYB
MYB
MYB proto-oncogene, transcription factor 0.490 0.692 0.82
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 0.932 44 0 2009 2020
Entrez Id: 4781
Gene Symbol: NFIB
NFIB
nuclear factor I B 0.573 0.654 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 0.971 35 0 2009 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 1.000 33 0 2002 2019
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
insulin like growth factor 2 0.390 0.885 4.4E-02
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 1.000 17 0 2003 2019
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
BMS1 ribosome biogenesis factor 0.499 0.846 1.8E-04
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.800 None 1.000 11 1 1995 2019
Entrez Id: 31
Gene Symbol: ACACA
ACACA
acetyl-CoA carboxylase alpha 0.480 0.846 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 1.000 10 0 1995 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.190 None 0.889 9 0 2013 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.090 None 1.000 9 0 1999 2018
Entrez Id: 619552
Gene Symbol: MIR483
MIR483
microRNA 483 0.537 0.769
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.090 None 1.000 9 0 2011 2019
Entrez Id: 4603
Gene Symbol: MYBL1
MYBL1
MYB proto-oncogene like 1 0.705 0.308 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.090 None 1.000 9 0 2015 2019
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.090 None 1.000 9 0 2001 2018
Entrez Id: 5564
Gene Symbol: PRKAB1
PRKAB1
protein kinase AMP-activated non-catalytic subunit beta 1 0.460 0.846 5.3E-03
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.080 None 1.000 8 0 2017 2019
Entrez Id: 5562
Gene Symbol: PRKAA1
PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1 0.453 0.846 0.14
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.070 None 1.000 7 0 2017 2019
Entrez Id: 5563
Gene Symbol: PRKAA2
PRKAA2
protein kinase AMP-activated catalytic subunit alpha 2 0.456 0.846 3.5E-08
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.070 None 1.000 7 0 2017 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.060 None 1.000 6 0 2000 2018
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.060 None 0.833 6 0 2001 2015
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.060 None 1.000 6 0 2009 2019
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.050 None 1.000 5 0 2015 2019
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
C-X-C motif chemokine receptor 4 0.362 0.923 1.8E-02
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.050 None 1.000 5 0 2008 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.050 None 1.000 5 0 2010 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.040 None 1.000 4 0 2009 2016
Entrez Id: 864
Gene Symbol: RUNX3
RUNX3
RUNX family transcription factor 3 0.459 0.731 0.84
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.040 None 1.000 4 0 2008 2014
Entrez Id: 32
Gene Symbol: ACACB
ACACB
acetyl-CoA carboxylase beta 0.644 0.654 7.6E-47
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.040 None 1.000 4 0 2014 2020
Entrez Id: 84133
Gene Symbol: ZNRF3
ZNRF3
zinc and ring finger 3 0.691 0.385 0.99
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.040 None 1.000 4 0 2014 2018