| 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 | ||||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.710 | GeneticVariation | BEFREE | We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?]. | 23453665 | 2013 | |||||||
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G | 0.710 | GeneticVariation | CLINVAR | |||||||||
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0.700 | GeneticVariation | GWASCAT | Characterizing rare and low-frequency height-associated variants in the Japanese population. | 31562340 | 2019 | |||||||
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G | 0.700 | CausalMutation | CLINVAR | Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities. | 29383837 | 2018 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. | 28600779 | 2017 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. | 24798461 | 2014 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. | 23453665 | 2013 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. | 23453666 | 2013 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Deep sequencing reveals 50 novel genes for recessive cognitive disorders. | 21937992 | 2011 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?]. | 23453665 | 2013 | |||||||
|
|
|
0.010 | GeneticVariation | BEFREE | We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?]. | 23453665 | 2013 | |||||||
|
|
|
0.010 | GeneticVariation | BEFREE | We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?]. | 23453665 | 2013 |