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ATXN7L3BA chromosomal aberration involving ATXN7L3B has been found in a mother and her two children with varying degrees of neurodevelopmental delay and cerebellar ataxia. One child also exhibits episodes of unresponsiveness suggestive of absence seizures and facial dysmorphism. Deletion at 12q21.1 deletes the entire single exon of ATXN7L3B.
AAASThe disease is caused by mutations affecting the gene represented in this entry.
AASSThe disease is caused by mutations affecting the gene represented in this entry. In hyperlysinemia 1, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine. Some individuals, however, retain significant amounts of lysine-ketoglutarate reductase and present with saccharopinuria, a metabolic condition with few, if any, clinical manifestations.
AASSThe protein represented in this entry is involved in disease pathogenesis. A selective decrease in mitochondrial NADP(H) levels due to NADK2 mutations causes a deficiency of NADPH-dependent mitochondrial enzymes, such as DECR1 and AASS.
PRKAG2The disease is caused by mutations affecting the gene represented in this entry.
PRKAG2The disease is caused by mutations affecting the gene represented in this entry.
PRKAG2The disease is caused by mutations affecting the gene represented in this entry.
ABCC9The disease is caused by mutations affecting the gene represented in this entry.
ABCC9The disease is caused by mutations affecting the gene represented in this entry.
ABCC9The disease is caused by mutations affecting the gene represented in this entry.
ABCB7The disease is caused by mutations affecting the gene represented in this entry.
ABCB11The disease is caused by mutations affecting the gene represented in this entry.
ABCB11The disease is caused by mutations affecting the gene represented in this entry.
ABCA1The disease is caused by mutations affecting the gene represented in this entry.
ABCA1The disease is caused by mutations affecting the gene represented in this entry.
ABCD1The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31.
ABCD1The disease is caused by mutations affecting the gene represented in this entry.
ABCA4Disease susceptibility is associated with variations affecting the gene represented in this entry.
ABCA4The disease is caused by mutations affecting the gene represented in this entry.
ABCA4The disease is caused by mutations affecting the gene represented in this entry.
ABCA4The disease is caused by mutations affecting the gene represented in this entry.
ABCA4The disease is caused by mutations affecting the gene represented in this entry.
ABCC8The disease is caused by mutations affecting the gene represented in this entry.
ABCC8The disease is caused by mutations affecting the gene represented in this entry.
ABCC8The disease is caused by mutations affecting the gene represented in this entry.