Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. | 21990100 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. | 21990100 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Impaired membrane traffic in defective ether lipid biosynthesis. | 11152660 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Impaired membrane traffic in defective ether lipid biosynthesis. | 11152660 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. | 9536089 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. | 9536089 | 1998 |
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|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. | 21990100 | 2012 |
||||
|
0.700 | GeneticVariation | UNIPROT | Impaired membrane traffic in defective ether lipid biosynthesis. | 11152660 | 2001 |
||||
|
0.700 | GeneticVariation | UNIPROT | Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. | 9536089 | 1998 |