RAB3GAP2, RAB3 GTPase activating non-catalytic protein subunit 2, 25782
N. diseases: 143; N. variants: 9
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 | Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. | 16532399 | 2006 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. | 24482476 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Rab18 and a Rab18 GEF complex are required for normal ER structure. | 24891604 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. | 23420520 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. | 24239381 | 2013 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. | 23420520 | 2013 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. | 23420520 | 2013 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. | 23420520 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes. | 23176487 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. | 20967465 | 2011 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. | 20967465 | 2011 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. | 16532399 | 2006 | ||||||
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AG | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR |