410297 disorder-associated locus

definition

Chromosomal region associated with a single heritable disorder. The heritable disorder may be mapped to a chromosome but generally has not been associated to a specific gene.

139795 Usher syndrome 1E (autosomal recessive, severe)

159590 fragile X mental retardation associated 3

160001 dystonia 13, torsion

180213 spastic paraplegia 19 (autosomal dominant)

180232 spastic paraplegia 29 (autosomal dominant)

180240 spastic paraplegia 37 (autosomal dominant)

180245 spastic paraplegia 38 (autosomal dominant, Silver syndrome)

180270 spastic paraplegia 24 (autosomal recessive)

180294 spastic paraplegia 14 (autosomal recessive)

180301 spastic paraplegia 23 (autosomal recessive)

180307 spastic paraplegia 25 (autosomal recessive, with disc herniation)

180316 spastic paraplegia 27 (autosomal recessive)

180318 spastic paraplegia 32 (autosomal recessive)

180322 spastic paraplegia 16 (complicated, X-linked recessive)

180324 spastic paraplegia 34 (autosomal dominant)

212610 spinocerebellar ataxia 20

212612 spinocerebellar ataxia 25

212618 spinocerebellar ataxia 30

306169 dystonia 15, myoclonic

306184 dystonia 17

310868 optic atrophy 2 (obscure)

311367 dystonia 21, torsion (autosomal dominant)

316325 Usher syndrome 1H (autosomal recessive)

322975 Usher syndrome 1K (autosomal recessive)

325671 spastic paraplegia 41 (autosomal dominant)

325673 spastic paraplegia 36 (autosomal dominant)

365642 spinocerebellar ataxia 37

403187 spinocerebellar ataxia 32

455932 DNase1 hypersensitivity, chromosome 6, site 1

479128 gingival fibromatosis, hereditary, 2