| Name |
|---|
PRCD Geneprogressive rod-cone degeneration This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] |
CRX Genecone-rod homeobox The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] |
CORD8 Genecone rod dystrophy 8 |
CORD1 Genecone rod dystrophy 1 (autosomal dominant) |
CORD4 Genecone rod dystrophy 4 |
PDE6B Genephosphodiesterase 6B, cGMP-specific, rod, beta Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] |
PDE6A Genephosphodiesterase 6A, cGMP-specific, rod, alpha This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008] |
PDE6G Genephosphodiesterase 6G, cGMP-specific, rod, gamma This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] |
PDE6D Genephosphodiesterase 6D, cGMP-specific, rod, delta This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014] |
CORD17 Genecone rod dystrophy 17 (autosomal dominant) |
CCHCR1 Genecoiled-coil alpha-helical rod protein 1 This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017] |
TLNRD1 Genetalin rod domain containing 1 This gene encodes a protein that is regulated by micro RNA MiR-574-3, and is thought to have an oncogenic function in human bladder cancer. A similar gene in mouse is located in a chromosomal region critical for differentiation of mesoderm, which affects embryo patterning and the formation of heart, muscle, blood, skeleton and the urogenital system. The mouse gene is expressed in early development, and in the adult. [provided by RefSeq, Nov 2016] |
Intranuclear Rod Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intranuclear Rod Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intranuclear rod Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Intranuclear rod cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
intranuclear Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term intranuclear in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
neuronal intranuclear inclusions Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the neuronal intranuclear inclusions phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Neuronal Intranuclear Inclusion Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neuronal Intranuclear Inclusion Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
neuronal intranuclear inclusions Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the neuronal intranuclear inclusions phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Neuronal intranuclear inclusion disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neuronal intranuclear inclusion disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cone-rod dystrophy 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rod monochromatism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rod monochromatism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy, X-linked 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy, X-linked 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylometaphyseal dysplasia with cone-rod dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy amelogenesis imperfecta Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy amelogenesis imperfecta phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cone-rod dystrophy 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cone-rod dystrophy 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
actin rod Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the actin rod cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
rod spherule Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the rod spherule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
Cone-Rod Dystrophy 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy 8 from the curated CTD Gene-Disease Associations dataset. |
Cone-Rod Dystrophy 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy 3 from the curated CTD Gene-Disease Associations dataset. |
Cone-Rod Dystrophy 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy 7 from the curated CTD Gene-Disease Associations dataset. |
Cone-Rod Dystrophy 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy 5 from the curated CTD Gene-Disease Associations dataset. |
Cone-Rod Dystrophy 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy 13 from the curated CTD Gene-Disease Associations dataset. |
Cone-Rod Dystrophy, X-Linked, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy, X-Linked, 2 from the curated CTD Gene-Disease Associations dataset. |
Cone-Rod Dystrophy, X-Linked, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy, X-Linked, 3 from the curated CTD Gene-Disease Associations dataset. |
CONE-ROD DYSTROPHY 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONE-ROD DYSTROPHY 9 from the curated CTD Gene-Disease Associations dataset. |
CONE-ROD DYSTROPHY 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONE-ROD DYSTROPHY 2 from the curated CTD Gene-Disease Associations dataset. |
Cone-Rod Dystrophy 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy 1 from the curated CTD Gene-Disease Associations dataset. |
Cone-Rod Dystrophy 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy 12 from the curated CTD Gene-Disease Associations dataset. |
Cone-Rod Dystrophy 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy 11 from the curated CTD Gene-Disease Associations dataset. |
Cone-Rod Dystrophy 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cone-Rod Dystrophy 10 from the curated CTD Gene-Disease Associations dataset. |
CONE-ROD DYSTROPHY, X-LINKED, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONE-ROD DYSTROPHY, X-LINKED, 1 from the curated CTD Gene-Disease Associations dataset. |
Newfoundland Rod-Cone Dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Newfoundland Rod-Cone Dystrophy from the curated CTD Gene-Disease Associations dataset. |
CONE-ROD DYSTROPHY 15 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONE-ROD DYSTROPHY 15 from the curated CTD Gene-Disease Associations dataset. |
cone-rod dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cone-rod dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cone-rod dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cone-rod dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cone-rod dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cone-rod dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cone-rod dystrophy; retinitis pigmentosa Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cone-rod dystrophy; retinitis pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
recessive cone-rod dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease recessive cone-rod dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
rod Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term rod in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
actin rod assembly Gene SetFrom GO Biological Process Annotations 2015 genes participating in the actin rod assembly biological process from the curated GO Biological Process Annotations 2015 dataset. |
retinal rod cell development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retinal rod cell development biological process from the curated GO Biological Process Annotations 2015 dataset. |
retinal rod cell differentiation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retinal rod cell differentiation biological process from the curated GO Biological Process Annotations 2015 dataset. |
rod spherule Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the rod spherule cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
abnormal rod and cone electroretinograms Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal rod and cone electroretinograms phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cone-rod dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the cone-rod dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absent rod-and cone-mediated responses on erg Gene SetFrom HPO Gene-Disease Associations genes associated with the absent rod-and cone-mediated responses on erg phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
rod monochromacy Gene SetFrom HPO Gene-Disease Associations genes associated with the rod monochromacy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Alpha helical coiled-coil rod Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha helical coiled-coil rod protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
RZZ complex, subunit KNTC1/ROD, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the RZZ complex, subunit KNTC1/ROD, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Progressive rod-cone degeneration protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Progressive rod-cone degeneration protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Retinal rod rhodopsin-sensitive cGMP 3', 5'-cyclic phosphodiesterase, delta subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Retinal rod rhodopsin-sensitive cGMP 3', 5'-cyclic phosphodiesterase, delta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
abnormal retinal rod cell morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal retinal rod cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent retinal rod cells Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent retinal rod cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal retinal rod cell outer segment morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal retinal rod cell outer segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
retinal rod cell degeneration Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the retinal rod cell degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal rod electrophysiology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal rod electrophysiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal retinal rod bipolar cell morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal retinal rod bipolar cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased retinal rod cell number Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased retinal rod cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal enamel rod pattern Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal enamel rod pattern phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal retinal rod cell inner segment morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal retinal rod cell inner segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
newfoundland rod-cone dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the newfoundland rod-cone dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy, x-linked, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy, x-linked, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod retinal dystrophy-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod retinal dystrophy-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod retinal dystrophy-1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod retinal dystrophy-1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 6, 60177 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 6, 60177 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylometaphyseal dysplasia with cone-rod dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystrophy 20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystrophy 20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone-rod dystropy, x-linked, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone-rod dystropy, x-linked, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cone-rod dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
Heterotrimeric G-protein signaling pathway-rod outer segment phototransduction Gene SetFrom PANTHER Pathways proteins participating in the Heterotrimeric G-protein signaling pathway-rod outer segment phototransduction pathway from the PANTHER Pathways dataset. |
retinal rod Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue retinal rod from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
retinal rod Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue retinal rod in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Cone-Rod Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cone-Rod Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cone Dystrophy (Without Rod Involvement) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cone Dystrophy (Without Rod Involvement) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rod-Cone Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rod-Cone Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Obsolete Rod-Cone Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Obsolete Rod-Cone Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cone-Rod Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cone-Rod Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microcornea, Rod-Cone Dystrophy, Cataract, Posterior Staphyloma Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microcornea, Rod-Cone Dystrophy, Cataract, Posterior Staphyloma Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cone-Rod Synaptic Disorder, Congenital Nonprogressive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cone-Rod Synaptic Disorder, Congenital Nonprogressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cone Dystrophy With Supernormal Rod Response Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cone Dystrophy With Supernormal Rod Response in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rod Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rod Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Newfoundland Rod-Cone Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Newfoundland Rod-Cone Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
actin rod assembly Gene SetFrom GO Biological Process Annotations 2023 genes participating in the actin rod assembly biological process from the curated GO Biological Process Annotations 2023 dataset. |
retinal rod cell differentiation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the retinal rod cell differentiation biological process from the curated GO Biological Process Annotations 2023 dataset. |
retinal rod cell development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the retinal rod cell development biological process from the curated GO Biological Process Annotations 2023 dataset. |
rod photoreceptor disc membrane Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the rod photoreceptor disc membrane cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
abnormal rod electrophysiology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal rod electrophysiology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina rod cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina rod cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina rod bipolar cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina rod bipolar cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal enamel rod pattern Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal enamel rod pattern phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent retina rod cells Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent retina rod cells phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina rod cell inner segment morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina rod cell inner segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina rod cell outer segment morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina rod cell outer segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina rod cell degeneration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina rod cell degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased retina rod cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased retina rod cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased retina rod cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased retina rod cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Rod photoreceptor precursor cell_Retina_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Rod photoreceptor precursor cell_Retina_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Rod photoreceptor cell_Retina_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Rod photoreceptor cell_Retina_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Rod cell_Retina_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Rod cell_Retina_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Rod cell_Eye_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Rod cell_Eye_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Rod cell_Retinal organoid_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Rod cell_Retinal organoid_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Eye_CT3_retinal rod cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Eye_CT3_retinal rod cell cell type from the HuBMAP ASCT+B dataset. |
Eye_CT3_retinal rod cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Eye_CT3_retinal rod cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
actin rod assembly Gene SetFrom GO Biological Process Annotations 2025 genes participating in the actin rod assembly biological process from the curated GO Biological Process Annotations 2025 dataset. |
retinal rod cell differentiation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the retinal rod cell differentiation biological process from the curated GO Biological Process Annotations 2025 dataset. |
retinal rod cell development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the retinal rod cell development biological process from the curated GO Biological Process Annotations 2025 dataset. |
rod photoreceptor disc membrane Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the rod photoreceptor disc membrane cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
cone-rod dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease cone-rod dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
cone-rod dystrophy 18 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 18 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 15 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 21 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 17 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 17 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked cone-rod dystrophy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked cone-rod dystrophy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked cone-rod dystrophy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked cone-rod dystrophy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondylometaphyseal dysplasia with cone-rod dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondylometaphyseal dysplasia with cone-rod dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 16 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Newfoundland cone-rod dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Newfoundland cone-rod dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked cone-rod dystrophy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked cone-rod dystrophy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 13 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 20 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 20 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 22 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 22 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cone-rod dystrophy 19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cone-rod dystrophy 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Retinal rod Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Retinal rod from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
Retinal rod Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Retinal rod in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Rod photoreceptor outer segment Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Rod photoreceptor outer segment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Rod photoreceptor disc membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Rod photoreceptor disc membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Paraflagellar rod Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Paraflagellar rod cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Actin rod Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Actin rod cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
cofilin-actin rod Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the cofilin-actin rod cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Rod photoreceptor outer segment Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Rod photoreceptor outer segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Rod spherule Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Rod spherule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Rod photoreceptor disc lumen Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Rod photoreceptor disc lumen cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Rod photoreceptor disc membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Rod photoreceptor disc membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
bacterial-type flagellum basal body, rod Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the bacterial-type flagellum basal body, rod cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
bacterial-type flagellum basal body, distal rod, L ring Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the bacterial-type flagellum basal body, distal rod, L ring cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
bacterial-type flagellum basal body, distal rod Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the bacterial-type flagellum basal body, distal rod cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Cone-rod dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cone-rod synaptic disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cone-rod synaptic disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rod-cone dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rod-cone dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked cone-rod dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Newfoundland cone-rod dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Newfoundland cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CONE-ROD DYSTRO Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CONE-ROD DYSTRO phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cone dystrophy and rod monochromatism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cone dystrophy and rod monochromatism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cone-rod dystrophy and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cone-rod dystrophy and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cone-rod synaptic disorder syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cone-rod synaptic disorder syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Late-onset cone-rod dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Late-onset cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bethlem myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myofibrillar myopathy, ZASP-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy, ZASP-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, centronuclear Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal dysplasia, multiple, 3, with myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 3, autosomal dominant or recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, early-onset, severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, centronuclear, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, myosin storage Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, myosin storage phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with cores Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Minicore myopathy with external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Minicore myopathy with external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Visceral myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Native American myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Native American myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nonaka myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nonaka myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, tubular aggregate, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, tubular aggregate, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myofibrillar myopathy, filamin C-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy, filamin C-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy with lactic acidosis, hereditary Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy with lactic acidosis, hereditary phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with excess of thin myofilaments Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal myopathy Markesbery-Griggs type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal myopathy Markesbery-Griggs type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, with excess of muscle spindles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, distal, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary myopathy with early respiratory failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary myopathy with early respiratory failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked myopathy with postural muscle atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked myopathy with postural muscle atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neutral lipid storage disease with myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutral lipid storage disease with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, compton-north Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked dominant scapuloperoneal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked dominant scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myofibrillar myopathy 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brody myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, centronuclear, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, childhood-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, childhood-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, distal, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, distal, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miyoshi myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Miyoshi myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy with tubular aggregates Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy with tubular aggregates phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myopathy with fiber type disproportion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYOPATHY, CENTRONUCLEAR, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 2 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CENTRONUCLEAR, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 1 from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Central Core Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Central Core from the curated CTD Gene-Disease Associations dataset. |
Bethlem myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bethlem myopathy from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Childhood-Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Childhood-Onset from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Distal, with Anterior Tibial Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Distal, with Anterior Tibial Onset from the curated CTD Gene-Disease Associations dataset. |
Miyoshi myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miyoshi myopathy from the curated CTD Gene-Disease Associations dataset. |
Welander distal myopathy, Swedish type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Welander distal myopathy, Swedish type from the curated CTD Gene-Disease Associations dataset. |
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, MYOFIBRILLAR, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 1 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, MYOFIBRILLAR, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 4 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, MYOFIBRILLAR, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 6 from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 6 from the curated CTD Gene-Disease Associations dataset. |
Myopathy with lactic acidosis and sideroblastic anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 1 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 5 from the curated CTD Gene-Disease Associations dataset. |
Visceral Myopathy, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Visceral Myopathy, Familial from the curated CTD Gene-Disease Associations dataset. |
Scapuloperoneal Myopathy, X-Linked Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Hyaline Body, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Hyaline Body, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, Compton-North Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset. |
Myopathy, X-Linked, With Postural Muscle Atrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, X-Linked, With Postural Muscle Atrophy from the curated CTD Gene-Disease Associations dataset. |
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SCAPULOPERONEAL MYOPATHY, MYH7-RELATED from the curated CTD Gene-Disease Associations dataset. |
Neutral Lipid Storage Disease with Myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutral Lipid Storage Disease with Myopathy from the curated CTD Gene-Disease Associations dataset. |
Distal myopathy, Nonaka type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Distal myopathy, Nonaka type from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Hereditary Myopathy with Early Respiratory Failure Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Myopathy with Early Respiratory Failure from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, SPHEROID BODY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, SPHEROID BODY from the curated CTD Gene-Disease Associations dataset. |
Minicore Myopathy with External Ophthalmoplegia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Minicore Myopathy with External Ophthalmoplegia from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
Myopathy, X-Linked, with Excessive Autophagy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, X-Linked, with Excessive Autophagy from the curated CTD Gene-Disease Associations dataset. |
Myopathy with Lactic Acidosis, Hereditary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with Lactic Acidosis, Hereditary from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CENTRONUCLEAR, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Myosin Storage Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Myosin Storage from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 3 from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 4 from the curated CTD Gene-Disease Associations dataset. |
Nemaline Myopathy 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline Myopathy 2 from the curated CTD Gene-Disease Associations dataset. |
Inclusion Body Myopathy 3, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy 3, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Early-Onset, with Fatal Cardiomyopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Early-Onset, with Fatal Cardiomyopathy from the curated CTD Gene-Disease Associations dataset. |
Inclusion body myopathy autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion body myopathy autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Brody myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Brody myopathy from the curated CTD Gene-Disease Associations dataset. |
Nemaline Myopathy 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline Myopathy 7 from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset. |
mitochondrial myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease mitochondrial myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
brody myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease brody myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
bethlem myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease bethlem myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
nemaline myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease nemaline myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
central core myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease central core myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital structural myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
centronuclear myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease centronuclear myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myopathy of extraocular muscle Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease myopathy of extraocular muscle from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myopathy Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease myopathy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
central core myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease central core myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
brody myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease brody myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
myopathy of extraocular muscle Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myopathy of extraocular muscle in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
bethlem myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease bethlem myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
x-linked myopathy with excessive autophagy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease x-linked myopathy with excessive autophagy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
nemaline myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease nemaline myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
adult onset multi/minicore myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult onset multi/minicore myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
variable myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease variable myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild myotubular myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild myotubular myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inherited myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inherited myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mitochondrial myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mitochondrial myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nemaline myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nemaline myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myopathy, idiopathic inflammatory Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myopathy, idiopathic inflammatory in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myopathy Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term myopathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
myopathy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease myopathy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
scapuloperoneal myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the scapuloperoneal myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
myofibrillar myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the myofibrillar myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mitochondrial myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the mitochondrial myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
skeletal myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the skeletal myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
minicore (multicore) myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the minicore (multicore) myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
myopathy Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the myopathy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
nemaline myopathy 6, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 6, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, spheroid body Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, spheroid body phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy with extrapyramidal signs Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy with extrapyramidal signs phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, early-onset, with fatal cardiomyopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, early-onset, with fatal cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
centronuclear myopathy 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the centronuclear myopathy 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myosin storage Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myosin storage phenotype from the curated OMIM Gene-Disease Associations dataset. |
native american myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the native american myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
inclusion body myopathy, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the inclusion body myopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, x-linked, with postural muscle atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, x-linked, with postural muscle atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 1, autosomal dominant or recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, tubular aggregate Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, tubular aggregate phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, with myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 8, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 8, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 4, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 4, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
brody myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the brody myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutral lipid storage disease with myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutral lipid storage disease with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, actin, congenital, with cores Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, actin, congenital, with cores phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
?myopathy, congenital, compton-north Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myopathy, congenital, compton-north phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy with lactic acidosis, hereditary Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy with lactic acidosis, hereditary phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 5, amish type Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 5, amish type phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, childhood-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, childhood-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital myopathy with excess of muscle spindles Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital myopathy with excess of muscle spindles phenotype from the curated OMIM Gene-Disease Associations dataset. |
welander distal myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the welander distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
bethlem myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the bethlem myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, proximal, with early respiratory muscle involvement Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, proximal, with early respiratory muscle involvement phenotype from the curated OMIM Gene-Disease Associations dataset. |
laing distal myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the laing distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?myopathy, tubular aggregate, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myopathy, tubular aggregate, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
scapuloperoneal myopathy, x-linked dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the scapuloperoneal myopathy, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 7, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial myopathy and sideroblastic anemia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial myopathy and sideroblastic anemia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myotubular myopathy, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the myotubular myopathy, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 3, autosomal dominant or recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
minicore myopathy with external ophthalmoplegia Gene SetFrom OMIM Gene-Disease Associations genes associated with the minicore myopathy with external ophthalmoplegia phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal, with anterior tibial onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal, with anterior tibial onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
cap myopathy 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cap myopathy 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cap myopathy 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cap myopathy 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{centronuclear myopathy, autosomal, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {centronuclear myopathy, autosomal, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion phenotype from the curated OMIM Gene-Disease Associations dataset. |
inclusion body myopathy-3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the inclusion body myopathy-3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear phenotype from the curated OMIM Gene-Disease Associations dataset. |
?peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 2, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to cpt ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
nonaka myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the nonaka myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal, tateyama type Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal, tateyama type phenotype from the curated OMIM Gene-Disease Associations dataset. |
visceral myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the visceral myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, actin, congenital, with excess of thin myofilaments Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to myoadenylate deaminase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease myopathy from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Inclusion Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inclusion Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neutral Lipid Storage Disease With Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neutral Lipid Storage Disease With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Central Core Myopathy (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Central Core Myopathy (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Centronuclear Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
X-Linked Centronuclear Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease X-Linked Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Actin-Accumulation Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Actin-Accumulation Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Myotubular Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Myotubular Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Centronuclear Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Structural Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Structural Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myofibrillar Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myofibrillar Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nemaline Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nemaline Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonaka Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonaka Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scapuloperoneal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scapuloperoneal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Secondary Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Secondary Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tubular Aggregate Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tubular Aggregate Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vacuolar Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vacuolar Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Zebra Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Zebra Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Visceral Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Visceral Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Visceral Myopathy, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Visceral Myopathy, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Miyoshi Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miyoshi Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bethlem Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bethlem Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Minicore Myopathy With External Ophthalmoplegia (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Minicore Myopathy With External Ophthalmoplegia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multi-Core Congenital Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multi-Core Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scapuloperoneal Myopathy, X-Linked Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sarcoid Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sarcoid Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alcohol Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alcohol Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brody Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brody Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myotubular (Centronuclear) Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myotubular (Centronuclear) Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Axial Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Axial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Critical Illness Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Critical Illness Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Welander Distal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Welander Distal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Necrotizing Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Necrotizing Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Proximal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Proximal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Proximal Myopathy With Focal Depletion Of Mitochondria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Proximal Myopathy With Focal Depletion Of Mitochondria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, With Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epiphyseal Dysplasia, Multiple, With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Congenital Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing-Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing-Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Myopathy With Early Respiratory Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Myopathy With Early Respiratory Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Native American Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Native American Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Oculopharyngodistal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Oculopharyngodistal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb-Girdle Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb-Girdle Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan Body Myopathy 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Klhl9-Related Early-Onset Distal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Klhl9-Related Early-Onset Distal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myotubular Myopathy With Abnormal Genital Development Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myotubular Myopathy With Abnormal Genital Development in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Myopathy 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Distal Myopathy 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inflammatory Myopathy With Abundant Macrophages Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inflammatory Myopathy With Abundant Macrophages in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inclusion Body Myopathy, Autosomal Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inclusion Body Myopathy, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spheroid Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spheroid Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Myopathy With Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Myopathy With Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan Body Myopathy Type 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Samaritan Congenital Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Samaritan Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Myopathy With Myasthenic-Like Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Myopathy With Myasthenic-Like Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desmin Related Myopathy With Mallory Body-Like Inclusions Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desmin Related Myopathy With Mallory Body-Like Inclusions in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy, Tpm2-Related Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy, Tpm2-Related in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy, Tpm3-Related (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy, Tpm3-Related (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
myopathy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the myopathy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Nemaline myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Nemaline myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Mitochondrial myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Mitochondrial myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myofibrillar myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myofibrillar myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
GNE myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease GNE myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital structural myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital structural myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Centronuclear myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Centronuclear myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Distal myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Distal myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 4A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 4A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myofibrillar myopathy 9 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myofibrillar myopathy 9 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 5 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Native American myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Native American myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hyaline body myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hyaline body myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Distal myopathy 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Distal myopathy 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Brody myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Brody myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 1B Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 1B from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Nemaline myopathy 3 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Nemaline myopathy 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 1A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 1A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Centronuclear myopathy X-linked Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Centronuclear myopathy X-linked from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myopathy Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Myopathy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
COX deficiency, infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital structural myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
GNE myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease GNE myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy X-linked Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy X-linked in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Oculopharyngodistal myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculopharyngodistal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Fatal infantile hypertonic myofibrillar myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Fatal infantile hypertonic myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy with rimmed vacuoles Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy with rimmed vacuoles in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
COX deficiency, benign infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, benign infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked myopathy with excessive autophagy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked myopathy with excessive autophagy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 1A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Bethlem myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Bethlem myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy with anterior tibial onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy with anterior tibial onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Compton-North congenital myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Compton-North congenital myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Scapuloperoneal myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Scapuloperoneal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyaline body myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 1B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 6 with fiber-type disproportion Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 6 with fiber-type disproportion in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Brody myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Brody myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cylindrical spirals myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cylindrical spirals myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 4A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 4A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy with extrapyramidal signs Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy with extrapyramidal signs in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Isolated mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Isolated mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 5A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 5A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Native American myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Native American myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Oculopharyngodistal myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculopharyngodistal myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy of extraocular muscle Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy of extraocular muscle in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 22A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 22A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tubular aggregate myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tubular aggregate myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant hyaline body myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 22B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 22B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive hyaline body myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy caused by variation in F Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in F phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SELENON-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SELENON-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SCN4A-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SCN4A-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GNE myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the GNE myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sarcotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sarcotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inclusion body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TPM3-related core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM3-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nemaline myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nemaline myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Central core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Central core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital multicore myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital multicore myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
RYR1-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the RYR1-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MYH7-related skeletal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MYH7-related skeletal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myosin storage myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myosin storage myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Visceral myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Desmin-related myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Desmin-related myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Bethlem myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Collagen 6-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Collagen 6-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Batten-Turner congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Batten-Turner congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Brody myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inborn mitochondrial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inborn mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Actin accumulation myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Actin accumulation myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy 2b Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 2b phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy 2c Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 2c phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive scapulohumeroperoneal distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive scapulohumeroperoneal distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy 10b Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 10b phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MEGF10-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MEGF10-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MYPN-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MYPN-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neutral lipid storage myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neutral lipid storage myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Welander distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Welander distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatal infantile hypertonic myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal infantile hypertonic myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Scapuloperoneal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability and myopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability and myopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TTN-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TTN-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy caused by variation in POMG Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in POMG phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Bailey-Bloch congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Bailey-Bloch congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metabolic myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multiminicore myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiminicore myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Miyoshi myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Miyoshi myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy caused by variation in PO Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in PO phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Proximal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Proximal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Compton-North congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Compton-North congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metabolic myopathy due to lactate transporter defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary inclusion-body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary inclusion-body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Polyglucosan body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Polyglucosan body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant mitochondrial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
HNRNPDL-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the HNRNPDL-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Axial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Axial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SGCG-related congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SGCG-related congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy-lactic acidosis-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-lactic acidosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CAP-congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CAP-congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ACTA1 gene related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ACTA1 gene related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy due to calsequestrin and SERCA1 protein overload Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital nonprogressive myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital nonprogressive myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyaline body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyaline body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TPM2-related cap myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM2-related cap myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MYH2-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MYH2-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inclusion body myopathy and brain white matter abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy and brain white matter abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital structural myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital structural myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood-onset autosomal recessive myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood-onset autosomal recessive myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Skeletal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Skeletal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TPM2-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM2-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial idiopathic inflammatory myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial idiopathic inflammatory myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
COL6A2-related core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the COL6A2-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Finnish upper limb-onset distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Finnish upper limb-onset distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SPEG-related congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SPEG-related congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
IDUA-related core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the IDUA-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Oculopharyngodistal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Oculopharyngodistal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Simvastatin-induced myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Simvastatin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Atorvastatin-induced myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Atorvastatin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Idiopathic inflammatory myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Idiopathic inflammatory myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |