SALL4, spalt like transcription factor 4, 57167
N. diseases: 245; N. variants: 17
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. | 16402211 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Okihiro syndrome is caused by SALL4 mutations. | 12393809 | 2002 | |||||||
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0.800 | GeneticVariation | UNIPROT | Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. | 12395297 | 2002 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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GC | 0.700 | CausalMutation | CLINVAR | Novel frameshift variant in gene SALL4 causing Okihiro syndrome. | 26791099 | 2016 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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TG | 0.700 | CausalMutation | CLINVAR |