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 2 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: 387
Gene Symbol: RHOA
RHOA
ras homolog family member A 0.502 0.808 0.60
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.300 None 0 0
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: 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: 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: 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: 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: 6872
Gene Symbol: TAF1
TAF1
TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 0 0
Entrez Id: 1349
Gene Symbol: COX7B
COX7B
cytochrome c oxidase subunit 7B 0.595 0.654 0.67
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP
desmoplakin 0.514 0.808 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 0 0
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
ATPase H+ transporting V1 subunit B2 0.606 0.577 0.99
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 0 0
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3
laminin subunit alpha 3 0.576 0.731 8.8E-46
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 0 0
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
collagen type XVII alpha 1 chain 0.545 0.769 2.3E-27
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.100 None 0 0