Harmonizome 3.0

epidermolysis bullosa, macular type

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

vitelliform macular dystrophy, atypical

butterfly-shaped pigmentary macular dystrophy 2

retinal degeneration 3-like

peripherin 2 (retinal degeneration, slow)

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]

progressive rod-cone degeneration

This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

retinal degeneration 3

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Menopause, natural, age at, QTL2

Menopause, natural, age at, QTL3

menopause, natural, age at, QTL

Menopause, natural, age at, QTL4

Menarche, age at, QTL3

Menarche, age at, QTL2

Menarche, age at, QTL