Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. | 15592994 | 2005 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | SLC25A22 is a novel gene for migrating partial seizures in infancy. | 24596948 | 2013 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. | 15592994 | 2005 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. | 15592994 | 2005 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. | 19780765 | 2009 | ||||
|
0.120 | GeneticVariation | disease | BEFREE | Comparison of the clinical features of patients from both families suggests that SLC25A22 mutations are responsible for a novel clinically recognizable epileptic encephalopathy with SB. | 19780765 | 2009 | ||||
|
0.120 | Biomarker | disease | HPO | |||||||
|
0.120 | GeneticVariation | disease | BEFREE | Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. | 28255779 | 2017 | ||||
|
0.110 | GeneticVariation | disease | BEFREE | Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. | 28255779 | 2017 | ||||
|
0.110 | Biomarker | disease | HPO | |||||||
|
0.110 | CausalMutation | disease | CLINVAR | |||||||
|
0.110 | GeneticVariation | disease | BEFREE | Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant). | 21967765 | 2012 | ||||
|
0.110 | CausalMutation | disease | CLINVAR | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO |