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HLA-BDisease susceptibility is associated with variations affecting the gene represented in this entry. A restricted number of HLA-B27 subtypes can be associated with ankylosing spondylitis and other B27-related diseases, and an elevated frequency of the B*2702 allele in ankylosing spondylitis patients is identified. The allele B*2707 seems to have a protective role some populations because it was found only in the healthy controls.
HLA-BDisease susceptibility is associated with variations affecting the gene represented in this entry. Increased susceptibility to Stevens-Johnson syndrome is conferred by allele B*15:02.
HLA-CDisease susceptibility is associated with variations affecting the gene represented in this entry.
HLA-DRB1Disease susceptibility is associated with variations affecting the gene represented in this entry.
HSD3B2The disease is caused by mutations affecting the gene represented in this entry.
HSD3B2Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion.
PPP2R1AThe disease is caused by mutations affecting the gene represented in this entry.
SH3BP2The disease is caused by mutations affecting the gene represented in this entry.
PPP2R2BThe disease is caused by mutations affecting the gene represented in this entry.
PPP2R5DThe disease is caused by mutations affecting the gene represented in this entry.
HSD3B7The disease is caused by mutations affecting the gene represented in this entry.
HTR1AThe disease is caused by mutations affecting the gene represented in this entry.
EPB41The disease is caused by mutations affecting the gene represented in this entry.
NT5EThe disease is caused by mutations affecting the gene represented in this entry.
NT5C2The disease is caused by mutations affecting the gene represented in this entry.
ATG16L1Disease susceptibility is associated with variations affecting the gene represented in this entry.
NT5C3AThe disease is caused by mutations affecting the gene represented in this entry.
SERPINA1The disease is caused by mutations affecting the gene represented in this entry.
APPThe disease is caused by mutations affecting the gene represented in this entry.
APPThe disease is caused by mutations affecting the gene represented in this entry.
SERPINF2The disease is caused by mutations affecting the gene represented in this entry.
ATXN7L3BA 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.
AAGABThe disease is caused by mutations affecting the gene represented in this entry.
AAASThe disease is caused by mutations affecting the gene represented in this entry.
AASSThe 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.