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Metaphyseal Enchondromatosis With D-2-Hydroxyglutaric Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Enchondromatosis With D-2-Hydroxyglutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Enchondromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Enchondromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Enchondromatosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Enchondromatosis from the curated CTD Gene-Disease Associations dataset. |
multiple enchondromatosis Gene SetFrom HPO Gene-Disease Associations genes associated with the multiple enchondromatosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Enchondromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Enchondromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Enchondromatosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Enchondromatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Metaphyseal chondrodysplasia, Jansen type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Metaphyseal chondrodysplasia, Jansen type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylo-megaepiphyseal-metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy With Metaphyseal Chondrodysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy With Metaphyseal Chondrodysplasia from the curated CTD Gene-Disease Associations dataset. |
Metaphyseal chondrodysplasia Schmid type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metaphyseal chondrodysplasia Schmid type from the curated CTD Gene-Disease Associations dataset. |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondylo-Megaepiphyseal-Metaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Jansen type metaphyseal chondrodysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Jansen type metaphyseal chondrodysplasia from the curated CTD Gene-Disease Associations dataset. |
Metaphyseal Dysplasia without Hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metaphyseal Dysplasia without Hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
Metaphyseal Anadysplasia 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metaphyseal Anadysplasia 2 from the curated CTD Gene-Disease Associations dataset. |
metaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease metaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
jansen's metaphyseal chondrodysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease jansen's metaphyseal chondrodysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
schmid metaphyseal chondrodysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease schmid metaphyseal chondrodysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
metaphyseal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term metaphyseal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
metaphyseal sclerosis Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the metaphyseal sclerosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
metaphyseal cupping of metacarpals Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal cupping of metacarpals phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper limb metaphyseal widening Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb metaphyseal widening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal sclerosis Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal sclerosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal chondrodysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal chondrodysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal dappling Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal dappling phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal cupping Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal cupping phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal spurs Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal spurs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
distal femoral metaphyseal abnormality Gene SetFrom HPO Gene-Disease Associations genes associated with the distal femoral metaphyseal abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal rarefaction Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal rarefaction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
streaky metaphyseal sclerosis Gene SetFrom HPO Gene-Disease Associations genes associated with the streaky metaphyseal sclerosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
proximal femoral metaphyseal abnormality Gene SetFrom HPO Gene-Disease Associations genes associated with the proximal femoral metaphyseal abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal cupping of proximal phalanges Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal cupping of proximal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absent primary metaphyseal spongiosa Gene SetFrom HPO Gene-Disease Associations genes associated with the absent primary metaphyseal spongiosa phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
proximal femoral metaphyseal irregularity Gene SetFrom HPO Gene-Disease Associations genes associated with the proximal femoral metaphyseal irregularity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal irregularity Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal irregularity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower-limb metaphyseal irregularity Gene SetFrom HPO Gene-Disease Associations genes associated with the lower-limb metaphyseal irregularity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal widening Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal widening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal metaphyseal trabeculation Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal metaphyseal trabeculation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal metaphyseal vascular invasion Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal metaphyseal vascular invasion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dense metaphyseal bands Gene SetFrom HPO Gene-Disease Associations genes associated with the dense metaphyseal bands phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal dysplasia without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal chondrodysplasia, schmid type Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal chondrodysplasia, schmid type phenotype from the curated OMIM Gene-Disease Associations dataset. |
brachyolmia 4 with mild epiphyseal and metaphyseal changes Gene SetFrom OMIM Gene-Disease Associations genes associated with the brachyolmia 4 with mild epiphyseal and metaphyseal changes phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal anadysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal anadysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal anadysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal anadysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal chondrodysplasia, murk jansen type Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal chondrodysplasia, murk jansen type phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylo-megaepiphyseal-metaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy with metaphyseal chondrodysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with metaphyseal chondrodysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
Metaphyseal Chondrodysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Chondrodysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pyle Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pyle Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Proximal Femoral Metaphyseal Abnormality Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Proximal Femoral Metaphyseal Abnormality in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Radial Metaphyseal Irregularity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Radial Metaphyseal Irregularity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ulnar Metaphyseal Irregularity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ulnar Metaphyseal Irregularity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Chondrodysplasia With Retinitis Pigmentosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Chondrodysplasia With Retinitis Pigmentosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteosclerotic Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteosclerotic Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Anadysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Anadysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Anadysplasia 1, Autosomal Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Anadysplasia 1, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondylo-Megaepiphyseal-Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Jansen Type Metaphyseal Chondrodysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Jansen Type Metaphyseal Chondrodysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Widening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Widening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Irregularity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Irregularity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Sclerosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Cupping Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Cupping in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Spurs Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Spurs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Proximal Femoral Metaphyseal Irregularity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Proximal Femoral Metaphyseal Irregularity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Cupping Of Metacarpals Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Cupping Of Metacarpals in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Cupping Of Proximal Phalanges Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Cupping Of Proximal Phalanges in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Dappling Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Dappling in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Streaky Metaphyseal Sclerosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Streaky Metaphyseal Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Metaphyseal Trabeculation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Metaphyseal Trabeculation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Rarefaction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Rarefaction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Striations Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Striations in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Dense Metaphyseal Bands Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dense Metaphyseal Bands in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Metaphyseal Vascular Invasion Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Metaphyseal Vascular Invasion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absent Primary Metaphyseal Spongiosa Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absent Primary Metaphyseal Spongiosa in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Metaphyseal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Schmid metaphyseal chondrodysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Schmid metaphyseal chondrodysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Metaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Metaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Jansen's metaphyseal chondrodysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Jansen's metaphyseal chondrodysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Osteosclerotic metaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Osteosclerotic metaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondylo-megaepiphyseal-metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal anadysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal anadysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal chondrodysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal chondrodysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal chondromatosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal chondromatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Osteosclerotic metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Osteosclerotic metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyle metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyle metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
METHYLMALONIC ACIDURIA, mut(-) TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA, mut(-) TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonic aciduria cblA type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic aciduria cblA type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLMALONIC ACIDURIA, mut(0) TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA, mut(0) TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orotic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orotic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Methylglutaconic aciduria type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Methylglutaconic aciduria type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonic aciduria, cblD type, variant 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic aciduria, cblD type, variant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Methylglutaconic aciduria type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Methylglutaconic aciduria type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria type V Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria type V phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Methylglutaconic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Methylglutaconic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined malonic and methylmalonic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
2-methyl-3-hydroxybutyric aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 2-methyl-3-hydroxybutyric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonic aciduria cblB type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic aciduria cblB type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutaric aciduria, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutaric aciduria, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aminoadipic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aminoadipic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mevalonic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mevalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblD Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic aciduria cblA type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic aciduria cblA type from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblF Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset. |
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset. |
Glutaric aciduria 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutaric aciduria 1 from the curated CTD Gene-Disease Associations dataset. |
3-Methylglutaconic Aciduria, Type V Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Methylglutaconic Aciduria, Type V from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic aciduria cblB type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic aciduria cblB type from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset. |
Malonic aciduria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Malonic aciduria from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset. |
Fumaric aciduria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fumaric aciduria from the curated CTD Gene-Disease Associations dataset. |
3-Methylglutaconic Aciduria, Type I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Methylglutaconic Aciduria, Type I from the curated CTD Gene-Disease Associations dataset. |
Argininosuccinic Aciduria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Argininosuccinic Aciduria from the curated CTD Gene-Disease Associations dataset. |
mevalonic aciduria Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease mevalonic aciduria from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
argininosuccinic aciduria Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease argininosuccinic aciduria from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
mevalonic aciduria Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mevalonic aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
argininosuccinic aciduria Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease argininosuccinic aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
methylmalonic aciduria and homocystinuria type cblc Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease methylmalonic aciduria and homocystinuria type cblc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
aciduria Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term aciduria in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
organic aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the organic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
4-hydroxyphenylacetic aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the 4-hydroxyphenylacetic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
methylmalonic aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the methylmalonic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dicarboxylic aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the dicarboxylic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
medium chain dicarboxylic aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the medium chain dicarboxylic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
4-hydroxyphenylpyruvic aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the 4-hydroxyphenylpyruvic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
urocanic aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the urocanic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ethylmalonic aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the ethylmalonic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
3-methylglutaconic aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the 3-methylglutaconic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
3-methylglutaric aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the 3-methylglutaric aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
long-chain dicarboxylic aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the long-chain dicarboxylic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
glutaric aciduria Gene SetFrom HPO Gene-Disease Associations genes associated with the glutaric aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Methylmalonic aciduria and homocystinuria type D protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Methylmalonic aciduria and homocystinuria type D protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
aciduria Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the aciduria phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
[glutaric aciduria iii] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [glutaric aciduria iii] phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset. |
2-aminoadipic 2-oxoadipic aciduria Gene SetFrom OMIM Gene-Disease Associations genes associated with the 2-aminoadipic 2-oxoadipic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset. |
argininosuccinic aciduria Gene SetFrom OMIM Gene-Disease Associations genes associated with the argininosuccinic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria, mut(0) type Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, mut(0) type phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria, vitamin b12-responsive Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, vitamin b12-responsive phenotype from the curated OMIM Gene-Disease Associations dataset. |
combined malonic and methylmalonic aciduria Gene SetFrom OMIM Gene-Disease Associations genes associated with the combined malonic and methylmalonic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria and homocystinuria, cbld type Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria and homocystinuria, cbld type phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria and homocystinuria, cblf type Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria and homocystinuria, cblf type phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria and homocystinuria, cblc type Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria and homocystinuria, cblc type phenotype from the curated OMIM Gene-Disease Associations dataset. |
3-methylglutaconic aciduria, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the 3-methylglutaconic aciduria, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
mevalonic aciduria Gene SetFrom OMIM Gene-Disease Associations genes associated with the mevalonic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria, cbld type, variant 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, cbld type, variant 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria and homocystinuria, cblj type Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria and homocystinuria, cblj type phenotype from the curated OMIM Gene-Disease Associations dataset. |
d-glyceric aciduria Gene SetFrom OMIM Gene-Disease Associations genes associated with the d-glyceric aciduria phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria due to transcobalamin receptor defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha-methylacetoacetic aciduria Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha-methylacetoacetic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset. |
3-methylglutaconic aciduria, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the 3-methylglutaconic aciduria, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
orotic aciduria Gene SetFrom OMIM Gene-Disease Associations genes associated with the orotic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset. |
3-methylglutaconic aciduria, type v Gene SetFrom OMIM Gene-Disease Associations genes associated with the 3-methylglutaconic aciduria, type v phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Setproteins participating in the Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway from the Reactome Pathways dataset. |
Defective MMAB causes methylmalonic aciduria type cblB Gene Setproteins participating in the Defective MMAB causes methylmalonic aciduria type cblB pathway from the Reactome Pathways dataset. |
Defective MMAA causes methylmalonic aciduria type cblA Gene Setproteins participating in the Defective MMAA causes methylmalonic aciduria type cblA pathway from the Reactome Pathways dataset. |
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Gene Setproteins participating in the Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway from the Reactome Pathways dataset. |
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Gene Setproteins participating in the Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway from the Reactome Pathways dataset. |
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Gene Setproteins participating in the Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway from the Reactome Pathways dataset. |
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Gene Setproteins participating in the Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway from the Reactome Pathways dataset. |
Defective MUT causes methylmalonic aciduria mut type Gene Setproteins participating in the Defective MUT causes methylmalonic aciduria mut type pathway from the Reactome Pathways dataset. |
Defective CD320 causes methylmalonic aciduria Gene Setproteins participating in the Defective CD320 causes methylmalonic aciduria pathway from the Reactome Pathways dataset. |
Methylmalonic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Methylmalonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
3-Methylglutaconic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 3-Methylglutaconic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Combined Malonic And Methylmalonic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Combined Malonic And Methylmalonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Malonic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Malonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Argininosuccinic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Argininosuccinic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
3-Hydroxyisobutyric Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 3-Hydroxyisobutyric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glutaric Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fumaric Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fumaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Orotoic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Orotoic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Long-Chain Dicarboxylic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Long-Chain Dicarboxylic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
2-Aminoadipic 2-Oxoadipic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 2-Aminoadipic 2-Oxoadipic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha Ketoadipic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha Ketoadipic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mevalonic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mevalonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
D-Glyceric Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease D-Glyceric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydroxymethylglutaric Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydroxymethylglutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lactic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lactic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
2-Methyl-3-Hydroxybutyric Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype 2-Methyl-3-Hydroxybutyric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Dicarboxylic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dicarboxylic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Medium Chain Dicarboxylic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Medium Chain Dicarboxylic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Ethylmalonic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ethylmalonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Orotic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Orotic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lactic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lactic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Organic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Organic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Glutaric Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Glutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Alpha-Aminoadipic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Alpha-Aminoadipic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
3-Methylglutaric Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype 3-Methylglutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
4-Hydroxyphenylacetic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype 4-Hydroxyphenylacetic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
4-Hydroxyphenylpyruvic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype 4-Hydroxyphenylpyruvic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
dicarboxylic aciduria Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the dicarboxylic aciduria phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
methylmalonic aciduria Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the methylmalonic aciduria phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
organic aciduria Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the organic aciduria phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ethylmalonic aciduria Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ethylmalonic aciduria phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
homogentisic aciduria Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the homogentisic aciduria phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
aciduria Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the aciduria phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
3-methylglutaconic aciduria Gene Setproteins participating in the 3-methylglutaconic aciduria pathway from the Reactome Pathways 2024 dataset. |
Mevalonic aciduria Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Mevalonic aciduria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria type 5 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 3-methylglutaconic aciduria type 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 3-methylglutaconic aciduria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Argininosuccinic aciduria Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Argininosuccinic aciduria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria type 3 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 3-methylglutaconic aciduria type 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria type 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 3-methylglutaconic aciduria type 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Methylmalonic aciduria and homocystinuria type cblD Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria and homocystinuria type cblD in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mevalonic aciduria Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mevalonic aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Orotic aciduria Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Orotic aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Methylmalonic aciduria and homocystinuria type cblC Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria and homocystinuria type cblC in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria type 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria type 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria type 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Argininosuccinic aciduria Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Argininosuccinic aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
2-aminoadipic 2-oxoadipic aciduria Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 2-aminoadipic 2-oxoadipic aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
D-glyceric aciduria Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease D-glyceric aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Methylmalonic aciduria and homocystinuria type cblF Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria and homocystinuria type cblF in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Methylmalonic aciduria and homocystinuria Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria and homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
METHYLMALONIC ACIDURIA AND HOMOCYSTINU Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINU phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CblC combined methylmalonic aciduria and homocystinuria Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CblC combined methylmalonic aciduria and homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
3-methylglutaconic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the 3-methylglutaconic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glutaric aciduria Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mevalonic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mevalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
2-aminoadipic 2-oxoadipic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the 2-aminoadipic 2-oxoadipic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary orotic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary orotic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
D-Glyceric aciduria Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the D-Glyceric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic aciduria of the cblA complementation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria of the cblA complementation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lactic aciduria due to D-lactic acid Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
3-Methylglutaric aciduria Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the 3-Methylglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |