Source: UNIPROT ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.820 | GeneticVariation | UNIPROT | Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects. | 27721825 | 2016 |
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|
0.820 | GeneticVariation | UNIPROT | Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. | 20080860 | 2010 |
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|
0.820 | GeneticVariation | UNIPROT | p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency. | 18319307 | 2008 |
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|
0.820 | GeneticVariation | UNIPROT | Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction. | 18445671 | 2008 |
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|
0.820 | GeneticVariation | UNIPROT | Detection and assignment of CYP21 mutations using peptide mass signature genotyping. | 15110320 | 2004 |
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|
0.820 | GeneticVariation | UNIPROT | Three novel mutations in Japanese patients with 21-hydroxylase deficiency. | 14676460 | 2004 |
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|
0.820 | GeneticVariation | UNIPROT | Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management. | 12788866 | 2003 |
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|
0.820 | GeneticVariation | UNIPROT | Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation. | 11600539 | 2001 |
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|
0.820 | GeneticVariation | UNIPROT | Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore. | 11598371 | 2001 |
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|
0.820 | GeneticVariation | UNIPROT | Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21). | 10198222 | 1999 |
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|
0.820 | GeneticVariation | UNIPROT | A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online. | 10408786 | 1999 |
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|
0.820 | GeneticVariation | UNIPROT | Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis. | 10051010 | 1999 |
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|
0.820 | GeneticVariation | UNIPROT | Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease. | 10364682 | 1999 |
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|
0.820 | GeneticVariation | UNIPROT | Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability. | 9497336 | 1998 |
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|
0.820 | GeneticVariation | UNIPROT | These results indicate that P105L and P453S can be expected to result in a very subtle disease manifestation when not found in combination, motivating their inclusion when genotyping to ascertain undiagnosed patients with the mildest forms of 21-hydroxylase deficiency. | 8989258 | 1997 |
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|
0.820 | GeneticVariation | UNIPROT | Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. | 1496017 | 1992 |
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|
0.820 | GeneticVariation | UNIPROT | A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. | 2072928 | 1991 |
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|
0.820 | GeneticVariation | UNIPROT | Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively. | 1864962 | 1991 |
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|
0.820 | GeneticVariation | UNIPROT | Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1. | 3260007 | 1988 |
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|
0.820 | GeneticVariation | UNIPROT | Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man. | 3871526 | 1985 |
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|
0.810 | GeneticVariation | UNIPROT | Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects. | 27721825 | 2016 |
||||
|
0.810 | GeneticVariation | UNIPROT | Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. | 20080860 | 2010 |
||||
|
0.810 | GeneticVariation | UNIPROT | Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction. | 18445671 | 2008 |
||||
|
0.810 | GeneticVariation | UNIPROT | p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency. | 18319307 | 2008 |
||||
|
0.810 | GeneticVariation | UNIPROT | Three novel mutations in Japanese patients with 21-hydroxylase deficiency. | 14676460 | 2004 |