Harmonizome 3.0

vitelliform macular dystrophy, atypical

macular dystrophy, retinal 3

macular dystrophy, retinal, 1 (North Carolina type)

macular dystrophy, retinal, 4 (North Carolina type with progressive sensorineural hearing loss)

cystoid macular dystrophy

butterfly-shaped pigmentary macular dystrophy 2

epidermolysis bullosa, macular type

muscular dystrophy, with rimmed vacuoles

limb girdle muscular dystrophy 1H (autosomal dominant)

limb girdle muscular dystrophy 1G (autosomal dominant)

Corneal dystrophy, Fuchs endothelial, 7

Corneal dystrophy, Fuchs endothelial, 5

Corneal dystrophy, Fuchs endothelial, 3

corneal dystrophy, Fuchs endothelial 2

Muscular dystrophy, congenital, 1B

corneal dystrophy of Bowman layer type II (Thiel-Behnke)

central areolar choroidal dystrophy

cone dystrophy 2 (X-linked)

facioscapulohumeral muscular dystrophy 1A

Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary disease of muscle. Patients with FSHD have a chromosomal rearrangement within the subtelomeric region of chromosome 4 (4q35). This region is composed mainly of a polymorphic repeat structure consisting of 3.3 kb repeat units, designated D4Z4. The number of repeat units varies from 10 to more than 100 in the population, however, in FSHD patients only 1-10 repeat units is observed because of a deletion of an integral number of these units. FSHD is caused by an epigenetic mechanism involving the contraction of a subtelomeric macrosatellite repeat, which results in marked hypomethylation of the contracted D4Z4 allele. It is likely not the structure, but the deregulation of transcription of one or more genes as a result of repeat-contraction-mediated chromatin alterations, that causes FSHD. [provided by RefSeq, Sep 2011]

facioscapulohumeral muscular dystrophy 1B

cone rod dystrophy 8

cone rod dystrophy 1 (autosomal dominant)

cone rod dystrophy 4

Choroidal dystrophy, central areolar 3

Corneal dystrophy, Lisch epithelial

retinal cone dystrophy 1

cone rod dystrophy 17 (autosomal dominant)

asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)

muscular dystrophy, congenital, merosin-positive

Corneal dystrophy, endothelial, X-linked

corneal endothelial dystrophy 1 (autosomal dominant)

Speech-sound disorder

Orthostatic hypotensive disorder of Streeten

Major affective disorder-9, susceptibility to

Major affective disorder-8, susceptibility to

Major affective disorder 5

major affective disorder 1

Major affective disorder 3, early onset

Major depressive disorder 2

Major depressive disorder

major affective disorder 2

Major affective disorder 4

Major affective disorder 6

Attention deficit-hyperactivity disorder, susceptibility to, 2

Huntington-like neurodegenerative disorder 2

Panic disorder 1

panic disorder 2

panic disorder 3

Bleeding disorder, east Texas type

Attention deficit-hyperactivity disorder, susceptibility to, 4

Attention deficit-hyperactivity disorder, susceptibility to, 5

Attention deficit-hyperactivity disorder, susceptibility to, 6

Attention deficit-hyperactivity disorder, susceptibility to, 1

Attention deficit-hyperactivity disorder, susceptibility to, 2

schizophrenia disorder 8

schizophrenia disorder 7

schizophrenia disorder 6

schizophrenia disorder 1

schizophrenia disorder 3

schizophrenia disorder 10 (periodic catatonia)

Nail disorder, nonsyndromic congenital, 9

cerebellar ataxia 3 (cerebellar parenchyma disorder 1)

schizophrenia disorder 2

pigment disorder, reticulate