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: 1666
Gene Symbol: DECR1
DECR1
2,4-dienoyl-CoA reductase 1 0.426 0.885 4.5E-14
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2010 2010
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: 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: 40
Gene Symbol: ASIC2
ASIC2
acid sensing ion channel subunit 2 0.653 0.538 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 345651
Gene Symbol: ACTBL2
ACTBL2
actin beta like 2 0.539 0.769 5.8E-16
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 1995 2006
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 1995 2006
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
actin gamma 2, smooth muscle 0.505 0.808 7.1E-02
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 1995 2006
Entrez Id: 214
Gene Symbol: ALCAM
ALCAM
activated leukocyte cell adhesion molecule 0.502 0.808 0.73
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 11332
Gene Symbol: ACOT7
ACOT7
acyl-CoA thioesterase 7 0.531 0.769 0.76
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 1995 2006
Entrez Id: 100188340
Gene Symbol: AOS
AOS
Adams-Oliver syndrome 0.792 0.462
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 132
Gene Symbol: ADK
ADK
adenosine kinase 0.584 0.769 3.1E-04
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
alpha-N-acetylgalactosaminidase 0.647 0.538 1.8E-11
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 183
Gene Symbol: AGT
AGT
angiotensinogen 0.367 0.923 5.0E-08
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 113451
Gene Symbol: AZIN2
AZIN2
antizyme inhibitor 2 0.499 0.808 8.9E-07
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.030 None 1.000 3 0 2002 2014
Entrez Id: 9582
Gene Symbol: APOBEC3B
APOBEC3B
apolipoprotein B mRNA editing enzyme catalytic subunit 3B 0.547 0.731 5.2E-16
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 358
Gene Symbol: AQP1
AQP1
aquaporin 1 (Colton blood group) 0.467 0.885 2.6E-07
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 2011 2014
Entrez Id: 360
Gene Symbol: AQP3
AQP3
aquaporin 3 (Gill blood group) 0.546 0.769 0.13
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 247
Gene Symbol: ALOX15B
ALOX15B
arachidonate 15-lipoxygenase type B 0.663 0.462 1.5E-18
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 79798
Gene Symbol: ARMC5
ARMC5
armadillo repeat containing 5 0.670 0.500 0.11
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 2016 2018