Disease report
Fri Nov 25 14:23:12 2011
Summary
This is a Case/Control study with APL families and 40 healthy controls
Study keywords:
Disease: Acute Promyelocytic Leukemia
Disease expected phenotype: : Dominant
Families/Groups: LPA1,LPA2,LPA3,LPA4,LPA5
Variants have been selected by the following criteria:
phenotype: variant must be in all family cases (heterozygous or homozygous) and they cannot be present in healthy family members and healthy controls
effect: non synonymous, stop codon gain/loss, splicing site and ncRNA
Total and selected variants per family/group
| Family/group | Total variants | Selected variants | Selected genes |
| LPA1 | 241185 | 15 | 15 |
| LPA2 | 241124 | 33 | 33 |
| LPA3 | 241391 | 17 | 17 |
| LPA4 | 239989 | 34 | 33 |
| LPA5 | 243711 | 28 | 28 |
Total variants: set of whole subject variants Selected variants: selected variants by the above effect and phenotype criteria Selected genes: genes from selected variants
Intersections
| Frequency | Variants | Genes |
| In 1 family/group | 125 | 122 |
| In 2 families/groups | 1 | 2 |
| In 3 families/groups | 0 | 0 |
| In 4 families/groups | 0 | 0 |
| In 5 families/groups | 0 | 0 |
Detailed variants per family/group
LPA1
LPA2
LPA3
LPA4
LPA5
Selected variants
Variants in 5 families/groups
No variants found in 5 families
Variants in 4 families/groups
No variants found in 4 families
Variants in 3 families/groups
No variants found in 3 families
Variants in 2 families/groups
Variants in 1 family/group
Selected genes
Genes in 5 families/groups
No genes found in 5 families/groups
Genes in 4 families/groups
No genes found in 4 families/groups
Genes in 3 families/groups
No genes found in 3 families/groups
Genes in 2 families/groups
Genes in 1 family/group
Protein-protein prioritization