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: 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: 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: 641455
Gene Symbol: POTEM
POTEM
POTE ankyrin domain family member M 0.541 0.769 3.2E-04
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: 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: 440915
Gene Symbol: POTEKP
POTEKP
POTE ankyrin domain family member K, pseudogene 0.542 0.769
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 1995 2006
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
serpin family A member 3 0.486 0.846 8.8E-14
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 1995 2006
Entrez Id: 9457
Gene Symbol: FHL5
FHL5
four and a half LIM domains 5 0.530 0.769 4.8E-10
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 1995 2006
Entrez Id: 1081
Gene Symbol: CGA
CGA
glycoprotein hormones, alpha polypeptide 0.508 0.808 0.35
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 1995 1995
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: 5111
Gene Symbol: PCNA
PCNA
proliferating cell nuclear antigen 0.382 0.846 0.98
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 10249
Gene Symbol: GLYAT
GLYAT
glycine-N-acyltransferase 0.729 0.462 3.6E-08
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 1997 1997
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: 2335
Gene Symbol: FN1
FN1
fibronectin 1 0.365 0.962 1.4E-03
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 1999 2019
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 1999 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: 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: 595
Gene Symbol: CCND1
CCND1
cyclin D1 0.344 0.923 0.89
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.040 None 1.000 4 0 2000 2018
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: 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: 7039
Gene Symbol: TGFA
TGFA
transforming growth factor alpha 0.432 0.885 0.72
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2001 2001