| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. | 15558842 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. | 15558842 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. | 11030761 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. | 11030761 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. | 9718340 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. | 9718340 | 1998 |
||||
|
0.800 | GeneticVariation | UNIPROT | Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. | 9354791 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. | 9354791 | 1997 |
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|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TATCA | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
TC | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |