HYLS1, HYLS1 centriolar and ciliogenesis associated, 219844
N. diseases: 119; N. variants: 5
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 | Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. | 15843405 | 2005 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.710 | GeneticVariation | BEFREE | The p.Asp211Gly homozygous HYLS1 mutation is so far known to cause only hydrolethalus syndrome, a lethal malformation syndrome. | 26830932 | 2016 | |||||||
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G | 0.710 | CausalMutation | CLINVAR | Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level. | 19400947 | 2009 | ||||||
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G | 0.710 | CausalMutation | CLINVAR | Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. | 18648327 | 2008 | ||||||
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G | 0.710 | CausalMutation | CLINVAR | Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. | 15843405 | 2005 | ||||||
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G | 0.710 | CausalMutation | CLINVAR | Hydrolethalus syndrome. | 2074561 | 1990 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | The p.Asp211Gly homozygous HYLS1 mutation is so far known to cause only hydrolethalus syndrome, a lethal malformation syndrome. | 26830932 | 2016 | |||||||
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0.010 | GeneticVariation | BEFREE | The p.Asp211Gly homozygous HYLS1 mutation is so far known to cause only hydrolethalus syndrome, a lethal malformation syndrome. | 26830932 | 2016 |