| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --over
|
|
|
in esophageal adenocarcinoma |
| constitutional
| germinal mutation
|
|
|
|
|
in congenital heart defects(ASD, VSD) |
| constitutional
|
|
| --low
|
|
|
in heart failure, with mild baseline systolic and diastolic dysfunction |
| tumoral
|
|
| --low
|
|
|
in ovarian and gastric cancer |
| tumoral
|
|
|
|
|
no expression in malignant astrocytoma cell lines  |
| constitutional
|
|
| --over
|
|
|
enhanced expression in inflammatory Bowel disease |
| tumoral
|
|
|
| loss of function
|
|
epigenetic inactivation by methylation of CpG islands is an early frequent event during gastric carcinogenesis significantly correlated with H. pylori infection |
| constitutional
| germinal mutation
|
|
|
|
|
heterozygous missence mutation in a family with 46,XY DSD (disorder of sex development) and congenital heart disease ( |
| constitutional
|
| deletion
|
|
|
|
in congenital heart disease |
