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: 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: 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: 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: 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: 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: 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: 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
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 7022
Gene Symbol: TFAP2C
TFAP2C
transcription factor AP-2 gamma 0.633 0.538 0.92
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3558
Gene Symbol: IL2
IL2
interleukin 2 0.336 0.885 0.48
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3082
Gene Symbol: HGF
HGF
hepatocyte growth factor 0.374 0.885 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 2810
Gene Symbol: SFN
SFN
stratifin 0.561 0.769 0.37
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 54165
Gene Symbol: DCUN1D1
DCUN1D1
defective in cullin neddylation 1 domain containing 1 0.670 0.538 0.99
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.020 None 1.000 2 0 2005 2005
Entrez Id: 7971
Gene Symbol: GHS
GHS
Goldenhar syndrome 0.659 0.615
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 1612
Gene Symbol: DAPK1
DAPK1
death associated protein kinase 1 0.472 0.808 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 2693
Gene Symbol: GHSR
GHSR
growth hormone secretagogue receptor 0.528 0.769 6.6E-03
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
O-6-methylguanine-DNA methyltransferase 0.412 0.885 1.2E-07
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease 0.010 None 1.000 1 0 2005 2005
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: 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: 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: 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: 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: 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: 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