Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. | 24888332 | 2014 |
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|
A | 0.800 | CausalMutation | CLINVAR | FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. | 23812909 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. | 23812909 | 2013 |