nametext
"HLA-DRB1"xsd:string"Disease susceptibility is associated with variations 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
"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
"SERPINA1"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"NT5E"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"NT5C2"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ATG16L1"xsd:string"Disease susceptibility is associated with variations 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
"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
"ABCA3"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