rs2032582 is a genetic variant on gene ABCB1 associated with Inflammatory bowel disease 13.
rs10876864 is a genetic variant on gene IKZF4 associated with Intelligence and Allergic disease.
rs11540652 is a genetic variant on gene TP53 associated with Li-fraumeni syndrome 1 and Multiple myeloma.
rs104894226 is a genetic variant on gene HRAS associated with Costello syndrome and Large congenital melanocytic nevus.
rs7274581 is a genetic variant associated with Alzheimer's disease.
rs10808546 is a genetic variant associated with Abdominal aortic aneurysm.
is a rare inherited muscle disease present at birth, often affecting brain/eyes.
is a genetic disorder causing muscle weakness from birth, brain-eye differences.
is a severe genetic disorder causing muscle weakness, brain and eye abnormalities.
is a rare inherited muscle disorder present from birth, affecting brain/eyes.
affects muscles, brain, and eyes from birth, causing weakness and delays.
is a rare inherited, birth-onset muscle disease with brain and eye involvement.
is a rare inherited newborn-onset muscle disease with weakness, brain/eye involvement.
is a rare inherited disorder causing early muscle weakness and brain involvement.
is a rare inherited muscle disease affecting the eyes and brain.
is a rare inherited muscle disease causing early weakness and developmental delays.
is a congenital muscle disease causing weakness, hypotonia, developmental delays, brain/eye abnormalities.
is a rare inherited dystroglycanopathy causing congenital muscle weakness, brain-eye abnormalities.
is a congenital muscle disorder causing severe weakness and developmental delays.
is a rare genetic disorder causing early muscle weakness, infant cataracts, hypogonadism.
is genetic disorder with muscle weakness, breathing problems, skin issues, hypermobile joints.
is a genetic, early-onset muscle disorder affecting muscles, brain, eyes.
is a rare inherited condition causing early muscle weakness and joint contractures.
is an inherited neuromuscular junction disorder causing muscle weakness and fatigability.
is an inherited nerve-muscle communication disorder causing fatigable muscle weakness from infancy.
is an inherited neuromuscular junction disorder causing fatigable muscle weakness, often early-onset.
is an inherited neuromuscular junction disorder causing fatigable muscle weakness.
is an inherited neuromuscular junction disorder causing early, fatigable muscle weakness.
is a genetic nerve-muscle (neuromuscular junction) disorder causing fatigable weakness.
is a genetic neuromuscular disorder causing muscle weakness that worsens with use.