nametext
"ABCD1"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
"ABCC8"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
"ABCC8"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCA12"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCA12"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABHD12"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABHD5"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCG8"xsd:string"Disease susceptibility may be associated with variations affecting the gene represented in this entry."xsd:string
"ABCG8"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCG5"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCB6"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCB6"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABCB6"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"APP"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"APP"xsd:string"The disease is caused by mutations 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
"HTR1A"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"EPB41"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"NT5C3A"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