| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.300 | Biomarker | CTD_human | 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. | 10407778 | 1999 |
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
|
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0.010 | GeneticVariation | LHGDN | Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation. | 12525554 | 2003 |
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0.100 | Biomarker | HPO | |||||||||||
|
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0.100 | Biomarker | HPO | |||||||||||
|
|
0.100 | Biomarker | HPO | |||||||||||
|
|
0.100 | Biomarker | HPO | |||||||||||
|
|
0.100 | Biomarker | HPO | |||||||||||
|
|
0.100 | Biomarker | HPO | |||||||||||
|
|
0.100 | Biomarker | HPO | |||||||||||
|
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
|
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0.100 | GeneticVariation | CLINVAR | Nemaline myopathy with dilated cardiomyopathy in childhood. | 23650303 | 2013 |
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0.100 | GeneticVariation | CLINVAR | Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. | 16967490 | 2007 |
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0.100 | GeneticVariation | CLINVAR | Review of Cardiac Disease in Nemaline Myopathy. | 26507755 | 2015 |
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0.100 | CausalMutation | CLINVAR | Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. | 11333380 | 2001 |
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0.100 | GeneticVariation | CLINVAR | Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. | 25890230 | 2015 |
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0.100 | GeneticVariation | CLINVAR | Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. | 15236405 | 2004 |
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0.100 | GeneticVariation | CLINVAR | Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). | 19562689 | 2009 |
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|
|
0.100 | CausalMutation | CLINVAR | Review of Cardiac Disease in Nemaline Myopathy. | 26507755 | 2015 |
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|
|
0.100 | CausalMutation | CLINVAR | Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. | 16967490 | 2007 |