Skip to main content

Table 2 Table of polyalanine diseases.

From: Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion 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
  1. Table of polyalanine diseases. The table reports: disease code and full name, associated gene, ranges of healthy and pathogenic repeat numbers.