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SPG7 Genespastic paraplegia 7 (pure and complicated autosomal recessive) This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014] |
Audiometry, Pure-Tone Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Audiometry, Pure-Tone in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
audiometry, pure-tone Gene SetFrom GAD Gene-Disease Associations genes associated with the disease audiometry, pure-tone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Red-Cell Aplasia, Pure Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Red-Cell Aplasia, Pure from the curated CTD Gene-Disease Associations dataset. |
pure red-cell aplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pure red-cell aplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
testicular pure germ cell tumor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease testicular pure germ cell tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
anemia; kidney diseases; red-cell aplasia, pure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia; kidney diseases; red-cell aplasia, pure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
red-cell aplasia, pure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease red-cell aplasia, pure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pure Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term pure in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Phosphoribosylaminoimidazole carboxylase PurE domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphoribosylaminoimidazole carboxylase PurE domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Adult Pure Erythroid Leukemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult Pure Erythroid Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pure Erythroid Leukemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pure Erythroid Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pure Red-Cell Aplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pure Red-Cell Aplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pure Autonomic Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pure Autonomic Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pure Hereditary Spastic Paraplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pure Hereditary Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pure Menstrual Migraine Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pure Menstrual Migraine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pure Gonadal Dysgenesis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pure Gonadal Dysgenesis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pure red-cell aplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Pure red-cell aplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Pure red-cell aplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pure red-cell aplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Pure hair and nail ectodermal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pure hair and nail ectodermal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Pure or complex autosomal recessive spastic paraplegia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pure or complex autosomal recessive spastic paraplegia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pure gonadal dysgenesis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pure gonadal dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pure non-grapefruit juice consumption Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pure non-grapefruit juice consumption phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |