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Nucleotide metabolism disorders v0.0 | ADAR |
Bryony Thompson gene: ADAR was added gene: ADAR was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAR were set to 29221912; 23001123; 24262145 Phenotypes for gene: ADAR were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866 |
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Nucleotide metabolism disorders v0.0 | ADA2 |
Bryony Thompson gene: ADA2 was added gene: ADA2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 24552284; 35095905 Phenotypes for gene: ADA2 were set to Disorders of purine metabolism; Deficiency of adenosine deaminase 2 MONDO:0100317 |
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Nucleotide metabolism disorders v0.0 | ADA |
Bryony Thompson gene: ADA was added gene: ADA was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 3684597; 3475710; 2783588; 1680289 Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency MIM#102700; Adenosine deaminase deficiency, partial MIM#102700; disorder of purine metabolism |