Table 2 |
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|
Table of polyalanine diseases. |
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|
Disease code |
Disease name |
Gene code |
Normal repeats |
Pathogenic repeats |
|
|
||||
|
BPES |
Blepharophimosis-ptosis-epicanthus inversus syndactyly |
FOXL2 |
14 |
19-24 |
|
HPE5 |
Holoprosencephaly 5 |
ZIC2 |
15 |
25 |
|
CCHS |
Congenital failure of autonomic control |
PHOX2B |
20 |
25-33 |
|
ISSX |
X-linked infantile spasm syndrome |
ARX |
16 |
27 |
|
MRGH |
X-linked mental retardation with isolated growth hormone deficiency |
SOX3 |
15 |
22-26 |
|
CCD |
Cleidocranial dysplasia |
RUNX2 |
17 |
27 |
|
HFGS |
Hand-foot-genital syndrome |
HOXA13 |
18 |
24-26 |
|
SPD1 |
Synpolydactyly 1 |
HOXD13 |
15 |
22-29 |
|
OPMD |
Oculopharyngeal muscular dystrophy |
PABPN1 |
10 |
11-17 |
|
|
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|
Table of polyalanine diseases. The table reports: disease code and full name, associated gene, ranges of healthy and pathogenic repeat numbers. |
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|
Pellegrini et al. BMC Bioinformatics 2012 13(Suppl 4):S3 doi:10.1186/1471-2105-13-S4-S3 |
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