Table 2

Table of polyalanine diseases.

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


Table of polyalanine diseases. The table reports: disease code and full name, associated gene, ranges of healthy and pathogenic repeat numbers.

Pellegrini et al. BMC Bioinformatics 2012 13(Suppl 4):S3   doi:10.1186/1471-2105-13-S4-S3

Open Data