Name

tubulopathy Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term tubulopathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) from the curated CTD Gene-Disease Associations dataset.

non-acidotic proximal tubulopathy Gene Set

From HPO Gene-Disease Associations

genes associated with the non-acidotic proximal tubulopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal tubulopathy Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal tubulopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) phenotype from the curated OMIM Gene-Disease Associations dataset.

Non-Acidotic Proximal Tubulopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Non-Acidotic Proximal Tubulopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Proximal Tubulopathy Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Tubulopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.