Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 GeneticVariation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 GeneticVariation CLINVAR

Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 SusceptibilityMutation CLINVAR

Entrez Id: 341640
Gene Symbol: FREM2
FREM2
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 SusceptibilityMutation CLINVAR

Entrez Id: 27241
Gene Symbol: BBS9
BBS9
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 158293
Gene Symbol: FAM120AOS
FAM120AOS
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 GeneticVariation CLINVAR

Entrez Id: 112939
Gene Symbol: NACC1
NACC1
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 GeneticVariation CLINVAR

Entrez Id: 22880
Gene Symbol: MORC2
MORC2
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 GeneticVariation CLINVAR

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation CLINVAR