Name

Desmoplastic Infantile Astrocytoma And Ganglioglioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Infantile Astrocytoma And Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Desmoplastic Infantile Ganglioglioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Infantile Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Infantile Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Infantile Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Cerebral Astrocytoma Of Infancy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Cerebral Astrocytoma Of Infancy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Spindle And Epithelioid Cell Melanocytic Nevus Of Skin Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Spindle And Epithelioid Cell Melanocytic Nevus Of Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

ganglioglioma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease ganglioglioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

brain neoplasms; cerebellar neoplasms; ganglioglioma; glioma; medulloblastoma; neuroectodermal tumor, primitive; neuroectodermal tumors, primitive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain neoplasms; cerebellar neoplasms; ganglioglioma; glioma; medulloblastoma; neuroectodermal tumor, primitive; neuroectodermal tumors, primitive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ganglioglioma Gene Set

From GeneRIF Biological Term Annotations

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

Ganglioglioma Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ganglioglioma phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

ganglioglioma cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ganglioglioma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Childhood Ganglioglioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ganglioglioma Gene Set

From DisGeNET Gene-Disease Associations

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

Ganglioglioma, Intracranial Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ganglioglioma, Intracranial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ganglioglioma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Ganglioglioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ganglioglioma cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Ganglioglioma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Childhood ganglioglioma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Childhood ganglioglioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ganglioglioma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ganglioglioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Desmoplastic Small Round Cell Tumor Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Desmoplastic Small Round Cell Tumor from the curated CTD Gene-Disease Associations dataset.

desmoplastic Gene Set

From GeneRIF Biological Term Annotations

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

Desmoplastic Small Round Cell Tumor Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Desmoplastic Small Round Cell Tumor phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

medulloblastoma, desmoplastic Gene Set

From OMIM Gene-Disease Associations

genes associated with the medulloblastoma, desmoplastic phenotype from the curated OMIM Gene-Disease Associations dataset.

Desmoplastic Gene Set

From DisGeNET Gene-Disease Associations

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

Desmoplastic Fibroblastoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Fibroblastoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Fibroma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Fibroma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Medulloblastoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Medulloblastoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Melanoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Melanoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult Desmoplastic Small Round Cell Tumor Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult Desmoplastic Small Round Cell Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood Desmoplastic Small Round Cell Tumor Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Desmoplastic Small Round Cell Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Small Round Cell Tumor Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Small Round Cell Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Malignant Desmoplastic Melanoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Malignant Desmoplastic Melanoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Trichoepithelioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Trichoepithelioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Mesothelioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Mesothelioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Ameloblastoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Ameloblastoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Neurotropic Melanoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Neurotropic Melanoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

desmoplastic/nodular medulloblastoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease desmoplastic/nodular medulloblastoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Desmoplastic small round cell tumor Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Desmoplastic small round cell tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Desmoplastic/nodular medulloblastoma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Desmoplastic/nodular medulloblastoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile convulsions and paroxysmal choreoathetosis, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

familial hemiplegic migraine and benign familial infantile convulsions Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial hemiplegic migraine and benign familial infantile convulsions in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sandhoff disease, infantile, juvenile, and adult forms Gene Set

From OMIM Gene-Disease Associations

genes associated with the sandhoff disease, infantile, juvenile, and adult forms phenotype from the curated OMIM Gene-Disease Associations dataset.

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Infantile Neurological, Cutaneous, And Articular Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile hypotonia with psychomotor retardation and characteristic facies-3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile hypotonia with psychomotor retardation and characteristic facies-3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile convulsions and choreoathetosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile convulsions and choreoathetosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Transient infantile hypertriglyceridemia and hepatosteatosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Transient infantile hypertriglyceridemia and hepatosteatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Episodic kinesigenic dyskinesia and familial infantile convulsions Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Episodic kinesigenic dyskinesia and familial infantile convulsions phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Astrocytoma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Astrocytoma from the curated CTD Gene-Disease Associations dataset.

Melanoma astrocytoma syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Melanoma astrocytoma syndrome from the curated CTD Gene-Disease Associations dataset.

astrocytoma Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease astrocytoma in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

pilocytic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pilocytic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

subependymal giant cell astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease subependymal giant cell astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

juvenile pilocytic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease juvenile pilocytic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

spinal cord astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease spinal cord astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pilocytic astrocytoma of cerebellum Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pilocytic astrocytoma of cerebellum in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

fibrillary astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease fibrillary astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cerebellar astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease cerebellar astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

juvenile astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease juvenile astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

protoplasmic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease protoplasmic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

gemistocytic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease gemistocytic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

childhood pilocytic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease childhood pilocytic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pilomyxoid astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pilomyxoid astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

astrocytoma; brain neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease astrocytoma; brain neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

astrocytoma; brain neoplasms; neoplasm invasiveness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease astrocytoma; brain neoplasms; neoplasm invasiveness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

astrocytoma; brain neoplasms; glioblastoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease astrocytoma; brain neoplasms; glioblastoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

astrocytoma; brain neoplasms; oligodendroglioma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease astrocytoma; brain neoplasms; oligodendroglioma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

astrocytoma; brain neoplasms; meningeal neoplasms; meningioma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease astrocytoma; brain neoplasms; meningeal neoplasms; meningioma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

astrocytoma; brain neoplasms; ependymoma; glioma; neoplasm metastasis; oligodendroglioma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease astrocytoma; brain neoplasms; ependymoma; glioma; neoplasm metastasis; oligodendroglioma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

astrocytoma; glioblastoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease astrocytoma; glioblastoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

astrocytoma; glioblastoma; nervous system neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease astrocytoma; glioblastoma; nervous system neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

astrocytoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease astrocytoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anaplastic astrocytoma; glioblastoma multiforme Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anaplastic astrocytoma; glioblastoma multiforme in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

astrocytoma; brain neoplasms; glioma; oligodendroglioma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease astrocytoma; brain neoplasms; glioma; oligodendroglioma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

astrocytoma Gene Set

From GeneRIF Biological Term Annotations

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

astrocytoma Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease astrocytoma in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

astrocytoma Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the astrocytoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

astrocytoma Gene Set

From HPO Gene-Disease Associations

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

Astrocytoma Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Astrocytoma phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

astrocytoma cell Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue astrocytoma cell from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

astrocytoma cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue astrocytoma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

anaplastic astrocytoma cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue anaplastic astrocytoma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

astrocytoma cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue astrocytoma cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

pilocytic astrocytoma cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue pilocytic astrocytoma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Pilocytic astrocytoma(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Pilocytic astrocytoma(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

astrocytoma Gene Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease astrocytoma from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

Subependymal Giant Cell Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Subependymal Giant Cell Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

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

Childhood Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult Pilocytic Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult Pilocytic Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood Pilocytic Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Pilocytic Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pilocytic Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pilocytic Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Juvenile Pilocytic Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Juvenile Pilocytic Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cerebral Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cerebral Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood Cerebral Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Cerebral Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diffuse Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diffuse Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fibrillary Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fibrillary Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gemistocytic Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gemistocytic Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Intracranial Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Intracranial Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Protoplasmic Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Protoplasmic Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult Anaplastic Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult Anaplastic Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Juvenile Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Juvenile Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult Subependymal Giant Cell Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult Subependymal Giant Cell Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood Subependymal Giant Cell Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Subependymal Giant Cell Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult Diffuse Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult Diffuse Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood Diffuse Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Diffuse Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood Pilomyxoid Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Pilomyxoid Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mixed Oligodendroglioma-Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mixed Oligodendroglioma-Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pilomyxoid Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pilomyxoid Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood Fibrillary Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Fibrillary Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Astrocytoma, Low-Grade, Somatic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Astrocytoma, Low-Grade, Somatic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Optic Nerve Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Optic Nerve Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pilocytic Astrocytoma Of Cerebellum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pilocytic Astrocytoma Of Cerebellum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood Gemistocytic Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood Gemistocytic Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diffuse Astrocytoma, Idh-Wildtype Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diffuse Astrocytoma, Idh-Wildtype in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Recurrent Anaplastic Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Recurrent Anaplastic Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Recurrent Childhood Anaplastic Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Recurrent Childhood Anaplastic Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Giant Cell Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Giant Cell Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pilocytic astrocytoma Gene Set

From WikiPathways Pathways 2024

proteins participating in the Pilocytic astrocytoma pathway from the WikiPathways Pathways 2024 dataset.

Malignant astrocytoma Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Malignant astrocytoma in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Malignant astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Malignant astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pilocytic astrocytoma of cerebellum Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Pilocytic astrocytoma of cerebellum in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cerebellar astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Cerebellar astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Fibrillary astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Fibrillary astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Protoplasmic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Protoplasmic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pilocytic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Pilocytic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Anaplastic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Anaplastic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Diffuse astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Diffuse astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Gemistocytic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Gemistocytic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spinal cord astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Spinal cord astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Subependymal giant cell astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Subependymal giant cell astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

IDH-wildtype anaplastic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease IDH-wildtype anaplastic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Diffuse astrocytoma, MYB- or MYBL1-altered Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Diffuse astrocytoma, MYB- or MYBL1-altered in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pilomyxoid astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Pilomyxoid astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Childhood pilocytic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Childhood pilocytic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

astrocytoma, IDH-mutant, grade 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease astrocytoma, IDH-mutant, grade 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

astrocytoma, IDH-mutant, grade 4 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease astrocytoma, IDH-mutant, grade 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

IDH-mutant anaplastic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease IDH-mutant anaplastic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

high-grade astrocytoma with piloid features Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease high-grade astrocytoma with piloid features in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

astrocytoma, IDH-mutant, grade 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease astrocytoma, IDH-mutant, grade 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Diencephalic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Diencephalic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Mixed oligodendroglioma-astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Mixed oligodendroglioma-astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Optic nerve astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Optic nerve astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Juvenile pilocytic astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Juvenile pilocytic astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Adult brainstem astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Adult brainstem astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pineal gland astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Pineal gland astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Astrocytoma cell Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores 2025

proteins highly expressed in the tissue Astrocytoma cell from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.

Astrocytoma cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Astrocytoma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Astrocytoma cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Astrocytoma cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Pilocytic astrocytoma cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Pilocytic astrocytoma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Anaplastic astrocytoma cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Anaplastic astrocytoma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Astrocytoma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Astrocytoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Astrocytoma IDH-mutant Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Astrocytoma IDH-mutant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Subependymal giant-cell astrocytoma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Subependymal giant-cell astrocytoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

High-grade astrocytoma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the High-grade astrocytoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pilocytic astrocytoma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pilocytic astrocytoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pilomyxoid astrocytoma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pilomyxoid astrocytoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways 2014

proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset.

Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial neonatal-infantile seizures Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Benign familial neonatal-infantile seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation with infantile enterocolitis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation with infantile enterocolitis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosialidosis, late infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosialidosis, late infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia infantile with progressive external ophthalmoplegia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia infantile with progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 23 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycogen storage disease type II, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycogen storage disease type II, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked infantile nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked infantile nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile myofibromatosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile myofibromatosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amish infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile nephronophthisis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile nephronophthisis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosialidosis, early infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosialidosis, early infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyloric stenosis, infantile hypertrophic, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyloric stenosis, infantile hypertrophic, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sandhoff disease, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sandhoff disease, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile hypophosphatasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile GM1 gangliosidosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile GM1 gangliosidosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile neuroaxonal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile-onset ascending hereditary spastic paralysis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Metachromatic leukodystrophy, late infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Metachromatic leukodystrophy, late infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile neuroaxonal neurodegeneration with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile neuroaxonal neurodegeneration with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polycystic kidney disease, infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polycystic kidney disease, infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Familial infantile myasthenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Liver failure acute infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Liver failure acute infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 24 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 25 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 26 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 26 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 27 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile Parkinsonism-dystonia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sting-associated vasculopathy, infantile-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sting-associated vasculopathy, infantile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sialic acid storage disease, severe infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune disease, multisystem, infantile-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune disease, multisystem, infantile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myoclonic epilepsy, familial infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myoclonic epilepsy, familial infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile cortical hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile cortical hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinsonism-Dystonia, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinsonism-Dystonia, Infantile from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 4 from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 1 from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 2 from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Myasthenia, Familial Infantile, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myasthenia, Familial Infantile, 1 from the curated CTD Gene-Disease Associations dataset.

Hereditary spastic paralysis, infantile onset ascending Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary spastic paralysis, infantile onset ascending from the curated CTD Gene-Disease Associations dataset.

Ceroid lipofuscinosis, neuronal 1, infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid lipofuscinosis, neuronal 1, infantile from the curated CTD Gene-Disease Associations dataset.

Infantile polyarteritis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Infantile polyarteritis from the curated CTD Gene-Disease Associations dataset.

LIVER FAILURE, INFANTILE, TRANSIENT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LIVER FAILURE, INFANTILE, TRANSIENT from the curated CTD Gene-Disease Associations dataset.

Refsum Disease, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Refsum Disease, Infantile from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 from the curated CTD Gene-Disease Associations dataset.

Glaucoma 3, primary infantile, B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 3, primary infantile, B from the curated CTD Gene-Disease Associations dataset.

SEIZURES, BENIGN FAMILIAL INFANTILE, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL INFANTILE, 2 from the curated CTD Gene-Disease Associations dataset.

Amish Infantile Epilepsy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amish Infantile Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 4 from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 2 from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 from the curated CTD Gene-Disease Associations dataset.

Hemangioma, capillary infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hemangioma, capillary infantile from the curated CTD Gene-Disease Associations dataset.

Striatonigral degeneration infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Striatonigral degeneration infantile from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 5 from the curated CTD Gene-Disease Associations dataset.

Spasms, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spasms, Infantile from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 from the curated CTD Gene-Disease Associations dataset.

Convulsions, Benign Familial Infantile, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Convulsions, Benign Familial Infantile, 4 from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic 1 from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 3 from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 3 from the curated CTD Gene-Disease Associations dataset.

Polycystic kidneys, severe infantile with tuberous sclerosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 from the curated CTD Gene-Disease Associations dataset.

Hypophosphatasia, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatasia, Infantile from the curated CTD Gene-Disease Associations dataset.

MYOCLONIC EPILEPSY, FAMILIAL INFANTILE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOCLONIC EPILEPSY, FAMILIAL INFANTILE from the curated CTD Gene-Disease Associations dataset.

infantile onset spinocerebellar ataxia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease infantile onset spinocerebellar ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

infantile onset spinocerebellar ataxia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease infantile onset spinocerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

benign familial infantile epilepsy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

infantile refsum disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease infantile refsum disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

fatal infantile encephalocardiomyopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease fatal infantile encephalocardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

seborrheic infantile dermatitis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease seborrheic infantile dermatitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

neurofibromatosis 1; spasms, infantile Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neurofibromatosis 1; spasms, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile hypophosphatasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile hypophosphatasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile hypertrophic pyloric stenosis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile hypertrophic pyloric stenosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

variant late infantile neuronal ceroid lipofuscinosis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease variant late infantile neuronal ceroid lipofuscinosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile-onset ascending hereditary spastic paralysis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile-onset ascending hereditary spastic paralysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile hypertrophic pyloric stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile hypertrophic pyloric stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diarrhea, infantile Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diarrhea, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

spasms, infantile Gene Set

From GAD Gene-Disease Associations

genes associated with the disease spasms, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile Gene Set

From GeneRIF Biological Term Annotations

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

Infantile neuronal ceroid lipofuscinosis_Brain_GSE6678 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Infantile neuronal ceroid lipofuscinosis_Brain_GSE6678 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Infantile hypertrophic pyloric stenosis Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

calcific stippling of infantile cartilaginous skeleton Gene Set

From HPO Gene-Disease Associations

genes associated with the calcific stippling of infantile cartilaginous skeleton phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile onset Gene Set

From HPO Gene-Disease Associations

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

infantile hypercalcemia Gene Set

From HPO Gene-Disease Associations

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

infantile muscular hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile sensorineural hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile encephalopathy Gene Set

From HPO Gene-Disease Associations

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

infantile spasms Gene Set

From HPO Gene-Disease Associations

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

infantile axial hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile axial hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Spasms, Infantile Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Spasms, Infantile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Infantile Apparent Life-Threatening Event Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Infantile Apparent Life-Threatening Event phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Diarrhea, Infantile Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Diarrhea, Infantile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

pyloric stenosis, infantile hypertrophic, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

pyloric stenosis, infantile hypertrophic, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

pyloric stenosis, infantile hypertrophic, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pyloric stenosis, infantile hypertrophic, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 24 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 24 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 25 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 25 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 26 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 27 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 27 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 23 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 23 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, x-linked 2, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, x-linked 2, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

amish infantile epilepsy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the amish infantile epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertriglyceridemia, transient infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertriglyceridemia, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

liver failure, transient infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the liver failure, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

?myofibromatosis, infantile 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?myofibromatosis, infantile 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercalcemia, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercalcemia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

nephronophthisis 2, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephronophthisis 2, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

myofibromatosis, infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myofibromatosis, infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

neuroaxonal neurodegeneration, infantile, with facial dysmophism Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuroaxonal neurodegeneration, infantile, with facial dysmophism phenotype from the curated OMIM Gene-Disease Associations dataset.

parkinsonism-dystonia, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the parkinsonism-dystonia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

sting-associated vasculopathy, infantile-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the sting-associated vasculopathy, infantile-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

?infantile liver failure syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?infantile liver failure syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

?infantile liver failure syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?infantile liver failure syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenia, familial infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenia, familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

{hemangioma, capillary infantile, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hemangioma, capillary infantile, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus, infantile periodic alternating, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus, infantile periodic alternating, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

hemangioma, capillary infantile, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemangioma, capillary infantile, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

infantile neuroaxonal dystrophy 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the infantile neuroaxonal dystrophy 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myoclonic epilepsy, infantile, familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the myoclonic epilepsy, infantile, familial phenotype from the curated OMIM Gene-Disease Associations dataset.

?epileptic encephalopathy, early infantile, 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?epileptic encephalopathy, early infantile, 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic kidney disease, infantile severe, with tuberous sclerosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset.

hypophosphatasia, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypophosphatasia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene Set

From 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.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

juvenile polyposis syndrome, infantile form Gene Set

From OMIM Gene-Disease Associations

genes associated with the juvenile polyposis syndrome, infantile form phenotype from the curated OMIM Gene-Disease Associations dataset.

infantile cerebellar-retinal degeneration Gene Set

From OMIM Gene-Disease Associations

genes associated with the infantile cerebellar-retinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset.

sialic acid storage disorder, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the sialic acid storage disorder, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

autoinflammation with infantile enterocolitis Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation with infantile enterocolitis phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune disease, multisystem, infantile-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune disease, multisystem, infantile-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

convulsions, familial infantile, with paroxysmal choreoathetosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the convulsions, familial infantile, with paroxysmal choreoathetosis phenotype from the curated OMIM Gene-Disease Associations dataset.

striatonigral degeneration, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the striatonigral degeneration, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 3, primary infantile, b Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 3, primary infantile, b phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paralysis, infantile onset ascending Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paralysis, infantile onset ascending phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) pathway from the Reactome Pathways dataset.

Infantile Cardiomyopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Spasm Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Spasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Nystagmus Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Nystagmus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Myofibromatosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Myofibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Late-Infantile Neuronal Ceroid Lipfuscinosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Late-Infantile Neuronal Ceroid Lipfuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Hemangioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Hemangioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Severe Myoclonic Epilepsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Cerebellar-Retinal Degeneration Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Cerebellar-Retinal Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Infantile Spinal Muscular Atrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Infantile Spinal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Scurvy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Scurvy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autoimmune Disease, Multisystem, Infantile-Onset, 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Disease, Multisystem, Infantile-Onset, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autoimmune Disease, Multisystem, Infantile-Onset, 2 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Disease, Multisystem, Infantile-Onset, 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Early Infantile Epileptic Encephalopathy With Suppression Bursts Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Early Infantile Epileptic Encephalopathy With Suppression Bursts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Hypophosphatasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Hypophosphatasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hereditary Spastic Paralysis, Infantile Onset Ascending Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hereditary Spastic Paralysis, Infantile Onset Ascending in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Uterus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Uterus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemangioma, Capillary Infantile Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemangioma, Capillary Infantile in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cryptogenic Infantile Spasms Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cryptogenic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Refractory Infantile Spasms Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Refractory Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Neuroaxonal Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Neuronal Ceroid Lipofuscinosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Neuronal Ceroid Lipofuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Striatonigral Degeneration, Infantile, Mitochondrial Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Striatonigral Degeneration, Infantile, Mitochondrial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Malignant Osteopetrosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Malignant Osteopetrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Endemic Tyrolean Infantile Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Endemic Tyrolean Infantile Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Amish Infantile Epilepsy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Amish Infantile Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Fibrosarcoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Fibrosarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Necrotizing Encephalopathy, Infantile Subacute, Of Leigh in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

X-Linked Infantile Nystagmus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease X-Linked Infantile Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Refsum Disease (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Refsum Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial Infantile Myasthenia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Familial Infantile Myasthenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Onset Spinocerebellar Ataxia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Onset Spinocerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Myasthenia, Familial Infantile, 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Myasthenia, Familial Infantile, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symptomatic Infantile Spasms Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Symptomatic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Cataract Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cystinosis, Infantile Nephropathic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cystinosis, Infantile Nephropathic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Idiopathic Infantile Hypercalcemia - Mild Form Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Idiopathic Infantile Hypercalcemia - Mild Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Fibromatosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fastkd2-Related Infantile Mitochondrial Encephalomyopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 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 Set

From 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.

Infantile Atopic Dermatitis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Atopic Dermatitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Globoid Cell Leukodystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Globoid Cell Leukodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Sialic Acid Storage Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Sialic Acid Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Sandhoff Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Sandhoff Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Sting-Associated Vasculopathy, Infantile-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Sting-Associated Vasculopathy, Infantile-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Digital Fibromatosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Digital Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Liver Failure Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Liver Failure Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Late Infantile Neuroaxonal Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Late Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Constant Exotropia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Constant Exotropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Gm 2 Gangliosidosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Gm 2 Gangliosidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Benign Infantile Myoclonic Epilepsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Benign Infantile Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diplegic Infantile Cerebral Palsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diplegic Infantile Cerebral Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Apnea Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Monoplegic Infantile Cerebral Palsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Monoplegic Infantile Cerebral Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Gastroenteritis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Gastroenteritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Early Infantile Epileptic Encephalopathy, Refractory Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Early Infantile Epileptic Encephalopathy, Refractory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fatal Infantile Mitochondrial Cardiomyopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fatal Infantile Mitochondrial Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Free Sialic Acid Storage Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Free Sialic Acid Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Asthma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Liver Failure, Infantile, Transient Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver Failure, Infantile, Transient in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Muscular Hypotonia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Infantile Diarrhea Gene Set

From DisGeNET Gene-Phenotype Associations

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

Infantile Nystagmus Gene Set

From DisGeNET Gene-Phenotype Associations

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

Infantile Obesity Gene Set

From DisGeNET Gene-Phenotype Associations

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

Infantile Axial Hypotonia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Hemangioma, Capillary Infantile, Somatic Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Hemangioma, Capillary Infantile, Somatic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infantile Colic Gene Set

From DisGeNET Gene-Phenotype Associations

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

Infantile Sensorineural Hearing Impairment Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 pathway from the Reactome Pathways 2024 dataset.

Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 pathway from the Reactome Pathways 2024 dataset.

COX deficiency, infantile mitochondrial myopathy Gene Set

From 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.

Infantile hypertrophic cardiomyopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile hypertrophic cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Early infantile epileptic encephalopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Early infantile epileptic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile liver failure syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile liver failure syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Fatal infantile hypertonic myofibrillar myopathy Gene Set

From 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.

Infantile Refsum disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile Refsum disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial infantile seizures 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Benign familial infantile seizures 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial infantile epilepsy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile parkinsonism-dystonia 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile parkinsonism-dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile hypophosphatasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile hypophosphatasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Seborrheic infantile dermatitis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Seborrheic infantile dermatitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

COX deficiency, benign infantile mitochondrial myopathy Gene Set

From 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.

Infantile cerebellar-retinal degeneration Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile cerebellar-retinal degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile myofibromatosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile myofibromatosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial infantile seizures 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Benign familial infantile seizures 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient infantile liver failure Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient infantile liver failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial infantile seizures 5 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Benign familial infantile seizures 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile histiocytoid cardiomyopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile histiocytoid cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile liver failure syndrome 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile liver failure syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile GM1 gangliosidosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile GM1 gangliosidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Late-infantile neuronal ceroid lipofuscinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Late-infantile neuronal ceroid lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial infantile myasthenia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Chronic infantile neurological Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Chronic infantile neurological phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile-onset ascending hereditary spastic paralysis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile onset spinocerebellar ataxia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile onset spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile neuroaxonal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neonatal/infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neonatal/infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile nephronophthisis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile nephronophthisis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Capillary infantile hemangioma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Capillary infantile hemangioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Benign familial infantile epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Benign familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Benign sporadic infantile epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Benign sporadic infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypophosphatasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

LAMB2-related infantile-onset nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the LAMB2-related infantile-onset nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile cortical hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile cortical hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile nephropathic cystinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile nephropathic cystinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile spasms Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile spasms phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal infantile hypertonic myofibrillar myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal infantile hypertonic myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile myofibromatosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile myofibromatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile Nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile Nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Self-limited familial infantile epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Self-limited familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile cerebellar-retinal degeneration Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile cerebellar-retinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile bilateral striatal necrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile bilateral striatal necrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Early Infantile Epileptic Encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early Infantile Epileptic Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial infantile myoclonic epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial infantile myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal Infantile Cardioencephalomyopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal Infantile Cardioencephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile liver failure syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile liver failure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Periodic fever-infantile enterocolitis-autoinflammatory syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Periodic fever-infantile enterocolitis-autoinflammatory syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile osteopetrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile osteopetrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Syndromic Infantile Encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndromic Infantile Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile-onset X-linked spinal muscular atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile-onset X-linked spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypercalcemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

IL21-related infantile inflammatory bowel disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the IL21-related infantile inflammatory bowel disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile epileptic dyskinetic encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile epileptic dyskinetic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile or childhood onset neurodegenerative disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile or childhood onset neurodegenerative disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile liver failure Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile liver failure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile-onset generalized dyskinesia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile-onset generalized dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive infantile hypercalcemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive infantile hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial infantile bilateral striatal necrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial infantile bilateral striatal necrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypertrophic pyloric stenosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set

From Biocarta Pathways

proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset.

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.

postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety and hostility and depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamins and metabolites in pregnant women and neonates Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

racemase and epimerase activity, acting on amino acids and derivatives Gene Set

From GO Molecular Function Annotations 2015

genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2015

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.

leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.

microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways 2014

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways 2014

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways 2014

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways 2014

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways 2014

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways 2014

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.

Synthesis and interconversion of nucleotide di- and triphosphates Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.

SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2023

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset.

SRF and miRs in smooth muscle differentiation and proliferation Gene Set

From WikiPathways Pathways 2024

proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset.

SREBF and miR33 in cholesterol and lipid homeostasis Gene Set

From WikiPathways Pathways 2024

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset.

RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene Set

From WikiPathways Pathways 2024

proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset.

ApoE and miR 146 in inflammation and atherosclerosis Gene Set

From WikiPathways Pathways 2024

proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset.

Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene Set

From WikiPathways Pathways 2024

proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset.

Somatroph axis GH and its relationship to dietary restriction and aging Gene Set

From WikiPathways Pathways 2024

proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset.

Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene Set

From WikiPathways Pathways 2024

proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset.

GLP 1 from intestine and pancreas and role in glucose homeostasis Gene Set

From WikiPathways Pathways 2024

proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways 2024

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset.

Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Set

From Reactome Pathways 2024

proteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways 2024

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways 2024

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset.

MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Set

From Reactome Pathways 2024

proteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways 2024

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways 2024

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset.

PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Set

From Reactome Pathways 2024

proteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset.

Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Set

From Reactome Pathways 2024

proteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways 2024

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset.

Transcriptional and post-translational regulation of MITF-M expression and activity Gene Set

From Reactome Pathways 2024

proteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset.

Transport of bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways 2024

proteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways 2024

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2025

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Regulation of gene expression and signal transduction in immune and stress responses Gene Set

From CM4AI U2OS Cell Map Protein Localization Assemblies

proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.

Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Basic cell groups and regions Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

head and face region of M1 Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

telomeres telomerase cellular aging and immortality Gene Set

From Biocarta Pathways

proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset.

mcalpain and friends in cell motility Gene Set

From Biocarta Pathways

proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset.

role of ppar-gamma coactivators in obesity and thermogenesis Gene Set

From Biocarta Pathways

proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset.

il12 and stat4 dependent signaling pathway in th1 development Gene Set

From Biocarta Pathways

proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset.

hypoxia and p53 in the cardiovascular system Gene Set

From Biocarta Pathways

proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset.

lissencephaly gene (lis1) in neuronal migration and development Gene Set

From Biocarta Pathways

proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset.

role of erbb2 in signal transduction and oncology Gene Set

From Biocarta Pathways

proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset.

corticosteroids and cardioprotection Gene Set

From Biocarta Pathways

proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset.

cyclins and cell cycle regulation Gene Set

From Biocarta Pathways

proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset.

mechanism of acetaminophen activity and toxicity Gene Set

From Biocarta Pathways

proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset.

nfat and hypertrophy of the heart Gene Set

From Biocarta Pathways

proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset.

acetylation and deacetylation of rela in nucleus Gene Set

From Biocarta Pathways

proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset.

thrombin signaling and protease-activated receptors Gene Set

From Biocarta Pathways

proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset.

antigen processing and presentation Gene Set

From Biocarta Pathways

proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset.

stathmin and breast cancer resistance to antimicrotubule agents Gene Set

From Biocarta Pathways

proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset.

role of ß-arrestins in the activation and targeting of map kinases Gene Set

From Biocarta Pathways

proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset.

cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene Set

From Biocarta Pathways

proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset.

role of pi3k subunit p85 in regulation of actin organization and cell migration Gene Set

From Biocarta Pathways

proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset.

btg family proteins and cell cycle regulation Gene Set

From Biocarta Pathways

proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset.

control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene Set

From Biocarta Pathways

proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset.

endocytotic role of ndk phosphins and dynamin Gene Set

From Biocarta Pathways

proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset.

regulation of eif-4e and p70s6 kinase Gene Set

From Biocarta Pathways

proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset.

estrogen responsive protein efp controls cell cycle and breast tumors growth Gene Set

From Biocarta Pathways

proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset.

vegf hypoxia and angiogenesis Gene Set

From Biocarta Pathways

proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset.

yaci and bcma stimulation of b cell immune responses Gene Set

From Biocarta Pathways

proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset.

lck and fyn tyrosine kinases in initiation of tcr activation Gene Set

From Biocarta Pathways

proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset.

hiv-1 nef: negative effector of fas and tnf Gene Set

From Biocarta Pathways

proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset.

nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene Set

From Biocarta Pathways

proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset.

ucalpain and friends in cell spread Gene Set

From Biocarta Pathways

proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset.

ionomycin and phorbal ester signaling pathway Gene Set

From Biocarta Pathways

proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset.

carm1 and regulation of the estrogen receptor Gene Set

From Biocarta Pathways

proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset.

phosphoinositides and their downstream targets Gene Set

From Biocarta Pathways

proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset.

melanocyte development and pigmentation pathway Gene Set

From Biocarta Pathways

proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset.

akap95 role in mitosis and chromosome dynamics Gene Set

From Biocarta Pathways

proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset.

transcription factor creb and its extracellular signals Gene Set

From Biocarta Pathways

proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

the igf-1 receptor and longevity Gene Set

From Biocarta Pathways

proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset.

cdc25 and chk1 regulatory pathway in response to dna damage Gene Set

From Biocarta Pathways

proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset.

human cytomegalovirus and map kinase pathways Gene Set

From Biocarta Pathways

proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset.

influence of ras and rho proteins on g1 to s transition Gene Set

From Biocarta Pathways

proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset.

proteolysis and signaling pathway of notch Gene Set

From Biocarta Pathways

proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset.

apoptotic dna-fragmentation and tissue homeostasis Gene Set

From Biocarta Pathways

proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset.

ion channels and their functional role in vascular endothelium Gene Set

From Biocarta Pathways

proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset.

alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene Set

From Biocarta Pathways

proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset.

fosb gene expression and drug abuse Gene Set

From Biocarta Pathways

proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset.

links between pyk2 and map kinases Gene Set

From Biocarta Pathways

proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset.

opposing roles of aif in apoptosis and cell survival Gene Set

From Biocarta Pathways

proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset.

degradation of the rar and rxr by the proteasome Gene Set

From Biocarta Pathways

proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset.

cadmium induces dna synthesis and proliferation in macrophages Gene Set

From Biocarta Pathways

proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset.

erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene Set

From Biocarta Pathways

proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset.

role of brca1 brca2 and atr in cancer susceptibility Gene Set

From Biocarta Pathways

proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset.

chrebp regulation by carbohydrates and camp Gene Set

From Biocarta Pathways

proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset.

pten dependent cell cycle arrest and apoptosis Gene Set

From Biocarta Pathways

proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset.

induction of apoptosis through dr3 and dr4/5 death receptors Gene Set

From Biocarta Pathways

proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset.

CIITA-18437201-Raji B cells and iDC-human Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

VDR-23401126-LCL-AND-THP1-HUMAN Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

BACH1-22875853-HELA-AND-SCP4-HUMAN Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

Hypothyroidism, central, and testicular enlargement Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, mental retardation, and seizures Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vater association with macrocephaly and ventriculomegaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal hamartomas nephroblastomatosis and fetal gigantism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microtia, hearing impairment, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ichthyosis, spastic quadriplegia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sinoatrial node dysfunction and deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation with language impairment and autistic features Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warts, hypogammaglobulinemia, infections, and myelokathexis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibular hypoplasia and complex brachydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, anterior maxillary protrusion, and strabismus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple Cutaneous and Mucosal Venous Malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy hereditary sensory and autonomic type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly with mental retardation and digital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth retardation, developmental delay, coarse facies, and early death Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory skin and bowel disease, neonatal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anemia sideroblastic and spinocerebellar ataxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial dysmorphism, immunodeficiency, livedo, and short stature Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, congenital heart defects, and posterior embryotoxon Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infertility associated with multi-tailed spermatozoa and excessive DNA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iris coloboma with ptosis, hypertelorism, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mullerian aplasia and hyperandrogenism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knuckle pads, deafness AND leukonychia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene Set

From 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.

Multicentric osteolysis, nodulosis and arthropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stapes ankylosis with broad thumb and toes Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy and perceptive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From 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.

Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, hereditary motor and sensory, Okinawa type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, short stature, and impaired glucose metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly, alopecia, cutis laxa, and scoliosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination and Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiomyopathy dilated with woolly hair and keratoderma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, renal dysfunction, and cholestasis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract and cardiomyopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory skin and bowel disease, neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, microphthalmia and nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and anterior segment dysgenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bone fragility with contractures, arterial rupture, and deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set

From 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.

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary Paragangliomas and Pheochromocytomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Band-like calcification with simplified gyration and polymicrogyria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Band-like calcification with simplified gyration and polymicrogyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia and hypogonadotropic hypogonadism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, juvenile, with microcornea and glucosuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, juvenile, with microcornea and glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, deafness, and narcolepsy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, deafness, and narcolepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Juvenile macular degeneration and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary motor and sensory neuropathy with optic atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary motor and sensory neuropathy with optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary leiomyomatosis and renal cell cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary leiomyomatosis and renal cell cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, hiatal hernia and nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pancreatic agenesis and congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene Set

From 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.

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined malonic and methylmalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, myopic chorioretinal atrophy, and telecanthus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, myopic chorioretinal atrophy, and telecanthus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glomerulocystic kidney disease with hyperuricemia and isosthenuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glomerulocystic kidney disease with hyperuricemia and isosthenuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis Gyrata syndrome of Beare and Stevenson Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aniridia, cerebellar ataxia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked hereditary motor and sensory neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniosynostosis and dental anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, hyperphagia, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebroretinal microangiopathy with calcifications and cysts Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebroretinal microangiopathy with calcifications and cysts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Generalized epilepsy and paroxysmal dyskinesia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Generalized epilepsy and paroxysmal dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alacrima, achalasia, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, normal intelligence and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Calcification of joints and arteries Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Calcification of joints and arteries phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypotrichosis and recurrent skin vesicles Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypotrichosis and recurrent skin vesicles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutaneous telangiectasia and cancer syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pineal hyperplasia AND diabetes mellitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Morbid obesity and spermatogenic failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Morbid obesity and spermatogenic failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skeletal defects, genital hypoplasia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Striatal necrosis, bilateral, and progressive polyneuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary sensory and autonomic neuropathy type IIA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia, high, with cataract and vitreoretinal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia, high, with cataract and vitreoretinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Camptodactyly, tall stature, and hearing loss syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal fragility keratoglobus, blue sclerae AND joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyogenic arthritis, pyoderma gangrenosum and acne Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyogenic arthritis, pyoderma gangrenosum and acne phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From 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.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, cochlear, with myopia and intellectual impairment Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, cochlear, with myopia and intellectual impairment phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, postnatal progressive, with seizures and brain atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial sorting and assembly machinery complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial sorting and assembly machinery complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

collagen and cuticulin-based cuticle extracellular matrix Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mrna cleavage and polyadenylation specificity factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

collagen and cuticulin-based cuticle extracellular matrix part Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial sorting and assembly machinery complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial sorting and assembly machinery complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) Gene Set

From CORUM Protein Complexes

proteins in the TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) protein complex from the CORUM Protein Complexes dataset.

NRD complex (Nucleosome remodeling and deacetylation complex) Gene Set

From CORUM Protein Complexes

proteins in the NRD complex (Nucleosome remodeling and deacetylation complex) protein complex from the CORUM Protein Complexes dataset.

6S methyltransferase and RG-containing Sm proteins complex Gene Set

From CORUM Protein Complexes

proteins in the 6S methyltransferase and RG-containing Sm proteins complex protein complex from the CORUM Protein Complexes dataset.

Remodeling and spacing factor (RSF) complex Gene Set

From CORUM Protein Complexes

proteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset.

PBAF complex (Polybromo- and BAF containing complex) Gene Set

From CORUM Protein Complexes

proteins in the PBAF complex (Polybromo- and BAF containing complex) protein complex from the CORUM Protein Complexes dataset.

Cleavage and polyadenylation factor (CPSF) Gene Set

From CORUM Protein Complexes

proteins in the Cleavage and polyadenylation factor (CPSF) protein complex from the CORUM Protein Complexes dataset.

Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L Gene Set

From CORUM Protein Complexes

proteins in the Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Nucleic and chromatin Fanconi complex Gene Set

From CORUM Protein Complexes

proteins in the Nucleic and chromatin Fanconi complex protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S Gene Set

From CORUM Protein Complexes

proteins in the Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S protein complex from the CORUM Protein Complexes dataset.

ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Set

From CORUM Protein Complexes

proteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes dataset.

20S methylosome and RG-containing Sm protein complex Gene Set

From CORUM Protein Complexes

proteins in the 20S methylosome and RG-containing Sm protein complex protein complex from the CORUM Protein Complexes dataset.

Amino Acids, Peptides, and Proteins Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Amino Acids, Peptides, and Proteins from the curated CTD Gene-Chemical Interactions dataset.

Bile Acids and Salts Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Bile Acids and Salts from the curated CTD Gene-Chemical Interactions dataset.

Prime and Bond NT Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Prime and Bond NT from the curated CTD Gene-Chemical Interactions dataset.

drospirenone and ethinyl estradiol combination Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical drospirenone and ethinyl estradiol combination from the curated CTD Gene-Chemical Interactions dataset.

Hypophosphatemic Rickets And Hyperparathyroidism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatemic Rickets And Hyperparathyroidism from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.

Fibular hypoplasia and complex brachydactyly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibular hypoplasia and complex brachydactyly from the curated CTD Gene-Disease Associations dataset.

Synovitis granulomatous with uveitis and cranial neuropathies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Synovitis granulomatous with uveitis and cranial neuropathies from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset.

Hereditary Sensory and Motor Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Sensory and Motor Neuropathy from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset.

OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS from the curated CTD Gene-Disease Associations dataset.

Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset.

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset.

Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset.

Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis from the curated CTD Gene-Disease Associations dataset.

Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset.

Microtia, Hearing Impairment, And Cleft Palate Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microtia, Hearing Impairment, And Cleft Palate from the curated CTD Gene-Disease Associations dataset.

OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB from the curated CTD Gene-Disease Associations dataset.

Acromegaloid features, overgrowth, cleft palate, and hernia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acromegaloid features, overgrowth, cleft palate, and hernia from the curated CTD Gene-Disease Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset.

46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS from the curated CTD Gene-Disease Associations dataset.

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset.

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset.

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset.

Craniosynostosis, anal anomalies, and porokeratosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniosynostosis, anal anomalies, and porokeratosis from the curated CTD Gene-Disease Associations dataset.

Sacral defect and anterior sacral meningocele Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset.

Classical Lissencephalies and Subcortical Band Heterotopias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Classical Lissencephalies and Subcortical Band Heterotopias from the curated CTD Gene-Disease Associations dataset.

Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset.

Optic atrophy 1 and deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic atrophy 1 and deafness from the curated CTD Gene-Disease Associations dataset.

Neuropathy, hereditary motor and sensory, Russe type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Russe type from the curated CTD Gene-Disease Associations dataset.

Blepharophimosis, Ptosis, and Epicanthus Inversus Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Blepharophimosis, Ptosis, and Epicanthus Inversus from the curated CTD Gene-Disease Associations dataset.

Hypotrichosis And Recurrent Skin Vesicles Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypotrichosis And Recurrent Skin Vesicles from the curated CTD Gene-Disease Associations dataset.

Signs and Symptoms, Digestive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Signs and Symptoms, Digestive from the curated CTD Gene-Disease Associations dataset.

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene Set

From 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.

Methylmalonic Aciduria and Homocystinuria, CblD Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset.

Head and Neck Neoplasms Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Head and Neck Neoplasms from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset.

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset.

Cataract, Juvenile, With Microcornea And Glucosuria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Juvenile, With Microcornea And Glucosuria from the curated CTD Gene-Disease Associations dataset.

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER from the curated CTD Gene-Disease Associations dataset.

Venous Malformations, Multiple Cutaneous and Mucosal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Venous Malformations, Multiple Cutaneous and Mucosal from the curated CTD Gene-Disease Associations dataset.

BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA from the curated CTD Gene-Disease Associations dataset.

Postoperative Nausea and Vomiting Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Postoperative Nausea and Vomiting from the curated CTD Gene-Disease Associations dataset.

Myopathy with lactic acidosis and sideroblastic anemia Gene Set

From 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.

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From 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.

MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset.

Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset.

Bifid Nose With Or Without Anorectal And Renal Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset.

Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Corneal dystrophy and perceptive deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy and perceptive deafness from the curated CTD Gene-Disease Associations dataset.

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset.

Hypopituitarism and septooptic 'dysplasia' Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset.

PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL from the curated CTD Gene-Disease Associations dataset.

Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps from the curated CTD Gene-Disease Associations dataset.

Aplasia of Lacrimal and Salivary Glands Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aplasia of Lacrimal and Salivary Glands from the curated CTD Gene-Disease Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA from the curated CTD Gene-Disease Associations dataset.

Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset.

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset.

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria from the curated CTD Gene-Disease Associations dataset.

Calcification of Joints and Arteries Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Calcification of Joints and Arteries from the curated CTD Gene-Disease Associations dataset.

CHOANAL ATRESIA AND LYMPHEDEMA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CHOANAL ATRESIA AND LYMPHEDEMA from the curated CTD Gene-Disease Associations dataset.

Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis from the curated CTD Gene-Disease Associations dataset.

Hereditary Motor And Sensory Neuropathy, Type IIC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset.

Asthma, Nasal Polyps, And Aspirin Intolerance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Asthma, Nasal Polyps, And Aspirin Intolerance from the curated CTD Gene-Disease Associations dataset.

Neoplasms, Germ Cell and Embryonal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neoplasms, Germ Cell and Embryonal from the curated CTD Gene-Disease Associations dataset.

Hereditary Motor And Sensory Neuropathy VI Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy VI from the curated CTD Gene-Disease Associations dataset.

Cutis Gyrata Syndrome of Beare And Stevenson Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset.

Wounds and Injuries Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Wounds and Injuries from the curated CTD Gene-Disease Associations dataset.

Schizophrenia and Disorders with Psychotic Features Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Schizophrenia and Disorders with Psychotic Features from the curated CTD Gene-Disease Associations dataset.

Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration from the curated CTD Gene-Disease Associations dataset.

Sleep Initiation and Maintenance Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sleep Initiation and Maintenance Disorders from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria and Homocystinuria, CblF Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset.

Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Cataract and cardiomyopathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract and cardiomyopathy from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.

Neuropathy, hereditary motor and sensory, Okinawa type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Okinawa type from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia, Optic Atrophy, and Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia, Optic Atrophy, and Neuropathy from the curated CTD Gene-Disease Associations dataset.

Generalized Epilepsy and Paroxysmal Dyskinesia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Generalized Epilepsy and Paroxysmal Dyskinesia from the curated CTD Gene-Disease Associations dataset.

Hereditary Breast and Ovarian Cancer Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset.

Keratosis palmoplantaris with periodontopathia and onychogryposis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratosis palmoplantaris with periodontopathia and onychogryposis from the curated CTD Gene-Disease Associations dataset.

Intracranial Embolism and Thrombosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Intracranial Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset.

LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY from the curated CTD Gene-Disease Associations dataset.

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma from the curated CTD Gene-Disease Associations dataset.

Nevi and Melanomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nevi and Melanomas from the curated CTD Gene-Disease Associations dataset.

Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders from the curated CTD Gene-Disease Associations dataset.

Attention Deficit and Disruptive Behavior Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Attention Deficit and Disruptive Behavior Disorders from the curated CTD Gene-Disease Associations dataset.

Cardiomyopathy dilated with Woolly hair and keratoderma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiomyopathy dilated with Woolly hair and keratoderma from the curated CTD Gene-Disease Associations dataset.

Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism from the curated CTD Gene-Disease Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic atrophy and cataract, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset.

Juvenile macular degeneration and hypotrichosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset.

ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset.

Mullerian Aplasia and Hyperandrogenism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mullerian Aplasia and Hyperandrogenism from the curated CTD Gene-Disease Associations dataset.

Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene Set

From 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.

Esophageal and Gastric Varices Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Esophageal and Gastric Varices from the curated CTD Gene-Disease Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC from the curated CTD Gene-Disease Associations dataset.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Carcinoma, squamous cell of head and neck Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carcinoma, squamous cell of head and neck from the curated CTD Gene-Disease Associations dataset.

Polycythemia, primary familial and congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset.

Extravasation of Diagnostic and Therapeutic Materials Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Extravasation of Diagnostic and Therapeutic Materials from the curated CTD Gene-Disease Associations dataset.

Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Knuckle pads, leuconychia and sensorineural deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Knuckle pads, leuconychia and sensorineural deafness from the curated CTD Gene-Disease Associations dataset.

Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked from the curated CTD Gene-Disease Associations dataset.

Hyperekplexia and Epilepsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperekplexia and Epilepsy from the curated CTD Gene-Disease Associations dataset.

Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia from the curated CTD Gene-Disease Associations dataset.

Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset.

Iris hypoplasia and glaucoma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iris hypoplasia and glaucoma from the curated CTD Gene-Disease Associations dataset.

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

Sarcoma family syndrome of Li and Fraumeni Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sarcoma family syndrome of Li and Fraumeni from the curated CTD Gene-Disease Associations dataset.

PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset.

Nephropathy with Pretibial Epidermolysis Bullosa and Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nephropathy with Pretibial Epidermolysis Bullosa and Deafness from the curated CTD Gene-Disease Associations dataset.

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset.

Lipoid Proteinosis of Urbach and Wiethe Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipoid Proteinosis of Urbach and Wiethe from the curated CTD Gene-Disease Associations dataset.

Hypertelorism with esophageal abnormality and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertelorism with esophageal abnormality and hypospadias from the curated CTD Gene-Disease Associations dataset.

Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Bone Fragility with Contractures, Arterial Rupture, and Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bone Fragility with Contractures, Arterial Rupture, and Deafness from the curated CTD Gene-Disease Associations dataset.

Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis from the curated CTD Gene-Disease Associations dataset.

Jervell And Lange-Nielsen Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jervell And Lange-Nielsen Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Neoplasms, Glandular and Epithelial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neoplasms, Glandular and Epithelial from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset.

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset.

Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness from the curated CTD Gene-Disease Associations dataset.

Early-onset ataxia with oculomotor apraxia and hypoalbuminemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Early-onset ataxia with oculomotor apraxia and hypoalbuminemia from the curated CTD Gene-Disease Associations dataset.

Pyogenic arthritis, pyoderma gangrenosum, and acne Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyogenic arthritis, pyoderma gangrenosum, and acne from the curated CTD Gene-Disease Associations dataset.

Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy from the curated CTD Gene-Disease Associations dataset.

Cleft Palate, Isolated, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Absent radii and thrombocytopenia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Absent radii and thrombocytopenia from the curated CTD Gene-Disease Associations dataset.

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS from the curated CTD Gene-Disease Associations dataset.

Microcephaly with Mental Retardation and Digital Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly with Mental Retardation and Digital Anomalies from the curated CTD Gene-Disease Associations dataset.

Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset.

STAPES ANKYLOSIS WITH BROAD THUMB AND TOES Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease STAPES ANKYLOSIS WITH BROAD THUMB AND TOES from the curated CTD Gene-Disease Associations dataset.

Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset.

Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy from the curated CTD Gene-Disease Associations dataset.

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance from the curated CTD Gene-Disease Associations dataset.

Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset.

Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset.

Signs and Symptoms, Respiratory Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Signs and Symptoms, Respiratory from the curated CTD Gene-Disease Associations dataset.

Renal cysts and diabetes syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal cysts and diabetes syndrome from the curated CTD Gene-Disease Associations dataset.

Neuropathy, hereditary motor and sensory, LOM type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, LOM type from the curated CTD Gene-Disease Associations dataset.

Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor from the curated CTD Gene-Disease Associations dataset.

Hereditary Angioedema Types I and II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Angioedema Types I and II from the curated CTD Gene-Disease Associations dataset.

Drug-Related Side Effects and Adverse Reactions Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Drug-Related Side Effects and Adverse Reactions from the curated CTD Gene-Disease Associations dataset.

Insect Bites and Stings Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Insect Bites and Stings from the curated CTD Gene-Disease Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset.

Foveal Hypoplasia and Anterior Segment Dysgenesis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Foveal Hypoplasia and Anterior Segment Dysgenesis from the curated CTD Gene-Disease Associations dataset.

Cubitus Valgus with Mental Retardation and Unusual Facies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cubitus Valgus with Mental Retardation and Unusual Facies from the curated CTD Gene-Disease Associations dataset.

Ophthalmoplegia, External, and Myopia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ophthalmoplegia, External, and Myopia from the curated CTD Gene-Disease Associations dataset.

Deafness, Sensorineural, And Male Infertility Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Sensorineural, And Male Infertility from the curated CTD Gene-Disease Associations dataset.

Hereditary Sensory and Autonomic Neuropathies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Sensory and Autonomic Neuropathies from the curated CTD Gene-Disease Associations dataset.

Histiocytosis with joint contractures and sensorineural deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Histiocytosis with joint contractures and sensorineural deafness from the curated CTD Gene-Disease Associations dataset.

Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked from the curated CTD Gene-Disease Associations dataset.

Leiomyomatosis, esophageal and vulval, with nephropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leiomyomatosis, esophageal and vulval, with nephropathy from the curated CTD Gene-Disease Associations dataset.

Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death from the curated CTD Gene-Disease Associations dataset.

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis from the curated CTD Gene-Disease Associations dataset.

Embolism and Thrombosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset.