PIGT, phosphatidylinositol glycan anchor biosynthesis class T, 51604
N. diseases: 79; N. variants: 16
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 | A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. | 23636107 | 2013 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | GWASCAT | Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study. | 29084231 | 2017 | |||||||
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0.700 | GeneticVariation | GWASCAT | Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study. | 29084231 | 2017 | |||||||
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G | 0.700 | GeneticVariation | CLINVAR | Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. | 25943031 | 2016 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. | 25943031 | 2016 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. | 24906948 | 2014 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. | 24906948 | 2014 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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T | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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T | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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T | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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T | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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CT | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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AC | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR |