nametext
"ATG16L1"xsd:string"Disease susceptibility is associated with variations affecting the gene represented in this entry."xsd:string
"AAGAB"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ATXN7L3B"xsd:string"A 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."xsd:string
"AAAS"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"AASS"xsd:string"The 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."xsd:string
"AASS"xsd:string"The 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."xsd:string
"PRKAG2"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"PRKAG2"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"PRKAG2"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCC9"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCC9"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCC9"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCB7"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCB11"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCB11"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCA1"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCA1"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCD1"xsd:string"The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31."xsd:string
"ABCD1"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCA4"xsd:string"Disease susceptibility is associated with variations affecting the gene represented in this entry."xsd:string
"ABCA4"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCA4"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCA4"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCA4"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCC8"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string