Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.750 | GeneticVariation | disease | CLINVAR | Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. | 28617419 | 2017 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Arg95Stop mutation of exon 4 in complement component 9 (C9) gene is common in individuals in Japan with C9 deficiency (C9D); however, understanding of the influences of C9D on human glomerulonephritis remains elusive. | 21057849 | 2011 | ||||
|
0.750 | Biomarker | disease | BEFREE | An abnormal but functionally active complement component C9 protein found in an Irish family with subtotal C9 deficiency. | 12603605 | 2003 | ||||
|
0.750 | Biomarker | disease | BEFREE | Hereditary complement (C9) deficiency associated with dermatomyositis. | 11359403 | 2001 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Therefore, we studied the prevalence of Arg95Stop mutation of C9 gene among 78 patients with SLE to elucidate the association of SLE and C9 deficiency. | 10981651 | 2000 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Genetic analyses of Japanese C9 deficiency have shown that a C-to-T transition leading to TGA stop codon for Arg95 in exon 4 of the C9 gene (Arg95Stop) is common in Japanese C9 deficiency. | 10083734 | 1999 | ||||
|
0.750 | Biomarker | disease | GENOMICS_ENGLAND | Terminal complement component deficiencies in Japan. | 10072634 | 1998 | ||||
|
0.750 | GeneticVariation | disease | UNIPROT | Heterogeneity in the genetic basis of human complement C9 deficiency. | 9634479 | 1998 | ||||
|
0.750 | CausalMutation | disease | CLINVAR | |||||||
|
0.750 | Biomarker | disease | CTD_human | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | Genetic analyses of Japanese C9 deficiency have shown that a C-to-T transition leading to TGA stop codon for Arg95 in exon 4 of the C9 gene (Arg95Stop) is common in Japanese C9 deficiency. | 10083734 | 1999 |