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"AOPEP"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"AOPEP"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"AOPEP"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"AOPEP"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ANKLE2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ANKLE2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ANKLE2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ANKLE2"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ARHGEF1"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ARHGEF1"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ARHGEF1"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ARHGEF1"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ABHD16A"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ABHD16A"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ABHD16A"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"ABHD16A"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
"AASS"xsd:string"The disease is caused by variants 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 disease is caused by variants 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 disease is caused by variants 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 disease is caused by variants 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
"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
"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
"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
"NT5C3A"xsd:string"The disease is caused by variants affecting the gene represented in this entry."xsd:string
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