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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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. | 11502906 | 2001 | ||||||
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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 | Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. | 10441340 | 1999 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. | 10441340 | 1999 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. | 11502906 | 2001 | ||||||
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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 | LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. | 11502906 | 2001 | ||||||
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GA | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. | 10441340 | 1999 | ||||||
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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 | LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. | 11502906 | 2001 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. | 10441340 | 1999 | ||||||
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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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TG | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. | 15173193 | 2004 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. | 11502906 | 2001 | |||||||
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0.800 | GeneticVariation | UNIPROT | LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. | 11163258 | 2000 | |||||||
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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 | Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. | 15007136 | 2004 | |||||||
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T | 0.700 | CausalMutation | CLINVAR |