Sparql XMLSparql JSONCSVShow queryShare
nametext
"ADGRG1"xsd:string"The disease is caused by variants affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the ADGRG1 non-coding exon 1m transcription start site, results in impaired perisylvian ADGRG1 expression and disruption of perisylvian gyri (PubMed:24531968)."xsd:string
"ADGRG1"xsd:string"The disease is caused by variants affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the ADGRG1 non-coding exon 1m transcription start site, results in impaired perisylvian ADGRG1 expression and disruption of perisylvian gyri (PubMed:24531968)."xsd:string
"ADGRG1"xsd:string"The disease is caused by variants affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the ADGRG1 non-coding exon 1m transcription start site, results in impaired perisylvian ADGRG1 expression and disruption of perisylvian gyri (PubMed:24531968)."xsd:string
"ADGRG1"xsd:string"The disease is caused by variants affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the ADGRG1 non-coding exon 1m transcription start site, results in impaired perisylvian ADGRG1 expression and disruption of perisylvian gyri (PubMed:24531968)."xsd:string
"ADGRE2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ADGRE2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ADGRE2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ADGRE2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALS2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"IGFALS"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"IGFALS"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"IGFALS"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"IGFALS"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ALPK3"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string