PAFAH1B1, platelet activating factor acetylhydrolase 1b regulatory subunit 1, 5048
N. diseases: 219; N. variants: 103
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 | Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. | 9063735 | 1997 | |||||||
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0.800 | GeneticVariation | UNIPROT | Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. | 9063735 | 1997 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.710 | GeneticVariation | BEFREE | The two patients with posterior SBH harbored a missense (Arg241Pro) and a nonsense (R8X) mosaic mutation of LIS1. | 14581661 | 2003 | |||||||
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C | 0.710 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | GWASCAT | Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. | 30420678 | 2019 | ||||||
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G | 0.700 | GeneticVariation | GWASCAT | Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. | 29942085 | 2018 | ||||||
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G | 0.700 | GeneticVariation | GWASCAT | Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. | 29942085 | 2018 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Lissencephaly: Expanded imaging and clinical classification. | 28440899 | 2017 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Lissencephaly: Expanded imaging and clinical classification. | 28440899 | 2017 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | The genetics of lissencephaly. | 24862549 | 2014 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | The genetics of lissencephaly. | 24862549 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. | 19667223 | 2009 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. | 15007136 | 2004 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. | 14581661 | 2003 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. | 14581661 | 2003 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. | 14581661 | 2003 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. | 14581661 | 2003 | ||||||
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0.700 | GeneticVariation | UNIPROT | Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. | 14581661 | 2003 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. | 14581661 | 2003 |