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: 5476
Gene Symbol: CTSA
CTSA
cathepsin A 0.619 0.731 5.9E-09
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 1.000 3 2 1996 2014
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5
BIVM-ERCC5 readthrough 0.736 0.308 1.3E-15
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 3
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 2
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 867
Gene Symbol: CBL
CBL
Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 2
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 112939
Gene Symbol: NACC1
NACC1
nucleus accumbens associated 1 0.610 0.577 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
DnaJ heat shock protein family (Hsp40) member C21 0.606 0.731 2.1E-07
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 158293
Gene Symbol: FAM120AOS
FAM120AOS
family with sequence similarity 120A opposite strand 0.861 0.154 2.2E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 3
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 4
Entrez Id: 22880
Gene Symbol: MORC2
MORC2
MORC family CW-type zinc finger 2 0.626 0.462 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 1