nametext
"HLA-A"xsd:string"May act as a susceptibility gene in Diabetes mellitus, insulin-dependent (IDDM) (PubMed:22245737, PubMed:18802479). In a glucose-dependent way, HLA-A*02:01 may aberrantly present the signal peptide of preproinsulin (ALWGPDPAAA) on the surface of pancreatic beta cells to autoreactive CD8-positive T cells, potentially driving T-cell mediated cytotoxicity in pancreatic islets (PubMed:22245737, PubMed:18802479)."xsd:string
"HLA-B"xsd:string"Disease 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."xsd:string
"HLA-A"xsd:string"HLA-A*03:01 allele increases the susceptibility to multiple sclerosis (MS), an autoimmune disease of the central nervous system (PubMed:10746785). Proposed to contribute to the initiation phase of the disease by presenting myelin PLP1 self-peptide (KLIETYFSK) to autoreactive CD8-positive T cells capable of initiating the first autoimmune attacks (PubMed:18953350)."xsd:string
"HLA-B"xsd:string"Disease 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."xsd:string
"YWHAG"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"HLA-C"xsd:string"Disease susceptibility is associated with variations affecting the gene represented in this entry."xsd:string
"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
"HAAO"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
"HTR1A"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"EPB41"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
"NT5C3A"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
"SERPINA1"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
"APP"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"SERPINF2"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string