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: 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: 3691
Gene Symbol: ITGB4
ITGB4
integrin subunit beta 4 0.525 0.731 9.5E-19
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.610 None 1.000 1 0 2008 2019
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
plectin 0.523 0.808 8.3E-12
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.410 None 1.000 1 0 2019 2019
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
delta like canonical Notch ligand 4 0.494 0.769 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.410 None 1.000 1 0 2015 2015
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: 57572
Gene Symbol: DOCK6
DOCK6
dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.120 None 1.000 2 0 2017 2018
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.110 None 1.000 1 0 2018 2018
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.110 None 1.000 1 0 2013 2013
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.110 None 1.000 1 0 2014 2014
Entrez Id: 284252
Gene Symbol: KCTD1
KCTD1
potassium channel tetramerization domain containing 1 0.682 0.615 0.86
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.110 None 1.000 1 0 2013 2013
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.110 None 1.000 1 0 2018 2018
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: 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: 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: 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: 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: 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: 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: 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