Entrez Id: |
2073 |
Gene Symbol: |
ERCC5 |
ERCC5
|
Congenital pectus excavatum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Congenital pectus excavatum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
BIVM-ERCC5
|
Congenital pectus excavatum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
FAM120AOS
|
Congenital pectus excavatum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
1756 |
Gene Symbol: |
DMD |
DMD
|
Congenital pectus excavatum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
22880 |
Gene Symbol: |
MORC2 |
MORC2
|
Congenital pectus excavatum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
22827 |
Gene Symbol: |
PUF60 |
PUF60
|
Congenital pectus excavatum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
80144 |
Gene Symbol: |
FRAS1 |
FRAS1
|
Congenital pectus excavatum
|
0.100 |
SusceptibilityMutation |
CLINVAR |
|
|
|
Entrez Id: |
341640 |
Gene Symbol: |
FREM2 |
FREM2
|
Congenital pectus excavatum
|
0.100 |
SusceptibilityMutation |
CLINVAR |
|
|
|
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
2200 |
Gene Symbol: |
FBN1 |
FBN1
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
9839 |
Gene Symbol: |
ZEB2 |
ZEB2
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
5476 |
Gene Symbol: |
CTSA |
CTSA
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
Entrez Id: |
7157 |
Gene Symbol: |
TP53 |
TP53
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
25 |
Gene Symbol: |
ABL1 |
ABL1
|
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: |
27241 |
Gene Symbol: |
BBS9 |
BBS9
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
79728 |
Gene Symbol: |
PALB2 |
PALB2
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
9772 |
Gene Symbol: |
TMEM94 |
TMEM94
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
112939 |
Gene Symbol: |
NACC1 |
NACC1
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
5476 |
Gene Symbol: |
CTSA |
CTSA
|
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: |
6942 |
Gene Symbol: |
TCF20 |
TCF20
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
2290 |
Gene Symbol: |
FOXG1 |
FOXG1
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
867 |
Gene Symbol: |
CBL |
CBL
|
Congenital pectus excavatum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
5476 |
Gene Symbol: |
CTSA |
CTSA
|
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 |