Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases

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.

ISSN: 1471-2105