nametext
"AEBP1"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"SPATA5"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"AFF4"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"AFF4"xsd:string"A chromosomal aberration involving AFF4 is found in acute lymphoblastic leukemia (ALL). Insertion ins(5;11)(q31;q13q23) that forms a KMT2A/MLL1-AFF4 fusion protein."xsd:string
"AFG3L2"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"AFG3L2"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"HSD3B2"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"HSD3B2"xsd:string"Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion."xsd:string
"PPP2R1A"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"HAAO"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"YWHAG"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"SH3BP2"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"PPP2R2B"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"PPP2R5D"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"HSD3B7"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"A2ML1"xsd:string"Disease susceptibility is associated with variations 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
"ABL1"xsd:string"The gene represented in this entry is involved in disease pathogenesis."xsd:string
"ABL1"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ABL1"xsd:string"A chromosomal aberration involving ABL1 has been found in patients with chronic myeloid leukemia. Translocation t(9;22)(q34;q11) with BCR. The translocation produces a BCR-ABL found also in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL)."xsd:string
"ACADM"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string