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cavernous malformations of cns and retina Gene SetFrom OMIM Gene-Disease Associations genes associated with the cavernous malformations of cns and retina phenotype from the curated OMIM Gene-Disease Associations dataset. |
Cerebral cavernous malformations 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral cavernous malformations 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral cavernous malformations 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral cavernous malformations 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral Cavernous Malformations 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral Cavernous Malformations 2 from the curated CTD Gene-Disease Associations dataset. |
Cerebral Cavernous Malformations 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral Cavernous Malformations 3 from the curated CTD Gene-Disease Associations dataset. |
cerebral cavernous malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebral cavernous malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
intracranial cavernous malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease intracranial cavernous malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebral cavernous malformations 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebral cavernous malformations 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebral cavernous malformations-1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebral cavernous malformations-1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebral cavernous malformations-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebral cavernous malformations-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Cerebral Cavernous Malformations 3 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Cavernous Malformations 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebral Cavernous Malformations 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Cavernous Malformations 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebral Cavernous Malformations 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Cavernous Malformations 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
CEREBRAL CAVERNOUS MALFORMATIONS Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CEREBRAL CAVERNOUS MALFORMATIONS phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cavernous Hemangioma Of Retina Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cavernous Hemangioma Of Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
central nervous system vascular malformations; intracranial arteriovenous malformations; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease central nervous system vascular malformations; intracranial arteriovenous malformations; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene SetFrom 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. |
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene SetFrom 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. |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene SetFrom 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. |
foam cells in visceral organs and cns Gene SetFrom HPO Gene-Disease Associations genes associated with the foam cells in visceral organs and cns phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Foam Cells In Visceral Organs And Cns Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Foam Cells In Visceral Organs And Cns in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Oligodendrocyte specification and differentiation leading to myelin components for CNS Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Oligodendrocyte specification and differentiation leading to myelin components for CNS pathway from the WikiPathways Pathways 2024 dataset. |
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene SetFrom 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. |
Multiple Cutaneous and Mucosal Venous Malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom 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. |
Venous Malformations, Multiple Cutaneous and Mucosal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Venous Malformations, Multiple Cutaneous and Mucosal from the curated CTD Gene-Disease Associations dataset. |
t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
venous malformations, multiple cutaneous and mucosal Gene SetFrom OMIM Gene-Disease Associations genes associated with the venous malformations, multiple cutaneous and mucosal phenotype from the curated OMIM Gene-Disease Associations dataset. |
infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Venous Malformations, Multiple Cutaneous And Mucosal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Venous Malformations, Multiple Cutaneous And Mucosal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple cutaneous and mucosal venous malformations Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Multiple cutaneous and mucosal venous malformations from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
microcephaly, growth deficiency, seizures, and brain malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, growth deficiency, seizures, and brain malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple cutaneous and mucosal venous malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple cutaneous and mucosal venous malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
syndactyly-telecanthus-anogenital and renal malformations syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease syndactyly-telecanthus-anogenital and renal malformations syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndactyly-telecanthus-anogenital and renal malformations syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndactyly-telecanthus-anogenital and renal malformations syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multiple cutaneous and mucosal venous malformations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiple cutaneous and mucosal venous malformations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital heart defects and skeletal malformations syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital heart defects and skeletal malformations syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemangioma, Cavernous, Central Nervous System Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hemangioma, Cavernous, Central Nervous System from the curated CTD Gene-Disease Associations dataset. |
cavernous sinus thrombosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cavernous sinus thrombosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cavernous hemangioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cavernous hemangioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cavernous sinus meningioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cavernous sinus meningioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
brain neoplasms; hemangioma, cavernous, central nervous system Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain neoplasms; hemangioma, cavernous, central nervous system in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cavernous Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term cavernous in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
cavernous hemangioma Gene SetFrom HPO Gene-Disease Associations genes associated with the cavernous hemangioma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Hemangioma, Cavernous, Central Nervous System Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hemangioma, Cavernous, Central Nervous System phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
cavernous artery Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue cavernous artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Cavernous Hemangioma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cavernous Hemangioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cavernous Angioma, Central Nervous System Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cavernous Angioma, Central Nervous System in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebral Cavernous Hemangioma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Cavernous Hemangioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Cerebral Cavernous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Cerebral Cavernous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cavernous Sinus Meningioma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cavernous Sinus Meningioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Carotid-Cavernous Sinus Fistula Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Carotid-Cavernous Sinus Fistula in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cavernous Sinus Thrombosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cavernous Sinus Thrombosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cavernous Sinus Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cavernous Sinus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebral cavernous malformation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Cerebral cavernous malformation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Cavernous hemangioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cavernous hemangioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebral cavernous malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebral cavernous malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cavernous sinus thrombosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cavernous sinus thrombosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cavernous sinus meningioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cavernous sinus meningioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intracranial cavernous angioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intracranial cavernous angioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cavernous artery Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Cavernous artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Cerebral cavernous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebral cavernous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cavernous lymphangioma Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cavernous lymphangioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary cavernous hemangioma of brain Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary cavernous hemangioma of brain phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cavernous hemangioma Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cavernous hemangioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cavernous sinus meningioma Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cavernous sinus meningioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene SetFrom 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. |
neovascularization of peripheral and posterior retina Gene SetFrom HPO Gene-Disease Associations genes associated with the neovascularization of peripheral and posterior retina phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
gyrate atrophy of choroid and retina with or without ornithinemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the gyrate atrophy of choroid and retina with or without ornithinemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
Coloboma Of Choroid And Retina Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Coloboma Of Choroid And Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gyrate Atrophy Of Choroid And Retina With Pyridoxine-Responsive Ornithinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gyrate Atrophy Of Choroid And Retina With Pyridoxine-Responsive Ornithinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gyrate atrophy of choroid and retina Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gyrate atrophy of choroid and retina phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CNS-P53 complex Gene Setproteins in the CNS-P53 complex protein complex from the CORUM Protein Complexes dataset. |
CNS-5161 Gene Setinteracting proteins for the CNS-5161 drug from the curated DrugBank Drug Targets dataset. |
cns Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term cns in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
cns infection Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the cns infection phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
cns hypomyelination Gene SetFrom HPO Gene-Disease Associations genes associated with the cns hypomyelination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cns demyelination Gene SetFrom HPO Gene-Disease Associations genes associated with the cns demyelination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal cns myelination Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal cns myelination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cns infection Gene SetFrom HPO Gene-Disease Associations genes associated with the cns infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
delayed cns myelination Gene SetFrom HPO Gene-Disease Associations genes associated with the delayed cns myelination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Demyelinating Autoimmune Diseases, CNS Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Demyelinating Autoimmune Diseases, CNS phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
decreased cns synapse formation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased cns synapse formation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal cns synapse formation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal cns synapse formation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal cns synaptic transmission Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal cns synaptic transmission phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
cns inflammation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the cns inflammation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased cns synapse formation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased cns synapse formation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal cns glial cell morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal cns glial cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
delayed cns synapse formation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the delayed cns synapse formation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
cns ischemia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the cns ischemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
altered response to cns ischemic injury Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the altered response to cns ischemic injury phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
cns cell line Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue cns cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Abnormal Cns Myelination Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormal Cns Myelination in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Delayed Cns Myelination Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Delayed Cns Myelination in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Cns Vasculitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Cns Vasculitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cns Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cns Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cns Metastases Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cns Metastases in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cns Hypomyelination Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cns Hypomyelination in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cns Symptom Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cns Symptom in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
abnormal CNS synaptic transmission Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal CNS synaptic transmission phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal response to CNS ischemic injury Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal response to CNS ischemic injury phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal CNS synapse formation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal CNS synapse formation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal CNS glial cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal CNS glial cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
CNS inflammation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the CNS inflammation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased CNS synapse formation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased CNS synapse formation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
delayed CNS synapse formation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the delayed CNS synapse formation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased CNS synapse formation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased CNS synapse formation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
CNS neuroblastoma with FOXR2 activation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease CNS neuroblastoma with FOXR2 activation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
CNS cell line Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue CNS cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
CNS demyelination Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CNS demyelination phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CNS hypomyelination Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CNS hypomyelination phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Delayed CNS myelination Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Delayed CNS myelination phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CNS-5161 Gene Setinteracting proteins for the CNS-5161 drug from theDGIdb Drug Targets 2026 dataset. |
PMC9627366-CNS-28-2104-s008.docx-0-MYT1_MYT1 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC9627366-CNS-28-2104-s008.docx-0-MYT1_MYT1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC9627366-CNS-28-2104-s008.docx-0-HES5_HES5 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC9627366-CNS-28-2104-s008.docx-0-HES5_HES5 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11186850-CNS-30-e14817-s001.xlsx-STable5-Supplementary_Table_5_MR_Analysis_results_for_suggestive_associations_along_with_the_results_of_sensitivity_analyses_and_co-localization_analyses_NR3C2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11186850-CNS-30-e14817-s001.xlsx-STable5-Supplementary_Table_5_MR_Analysis_results_for_suggestive_associations_along_with_the_results_of_sensitivity_analyses_and_co-localization_analyses_NR3C2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11669572-CNS-30-e70185-s001.xlsx-Supplementary_Table_4-Supplementary_Table_4_Results_of_MR_analysis_for_causal_effects_of_genes_on_glioma_outcomes_at_the_brain_cell_level_significant_association_NR3C2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11669572-CNS-30-e70185-s001.xlsx-Supplementary_Table_4-Supplementary_Table_4_Results_of_MR_analysis_for_causal_effects_of_genes_on_glioma_outcomes_at_the_brain_cell_level_significant_association_NR3C2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11669572-CNS-30-e70185-s001.xlsx-Supplementary_Table_8-Supplementary_Table_8_Results_of_MR_analysis_for_causal_effects_of_genes_on_glioma_outcomes_at_the_brain_cell_level_replicated_dataset_NR3C2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11669572-CNS-30-e70185-s001.xlsx-Supplementary_Table_8-Supplementary_Table_8_Results_of_MR_analysis_for_causal_effects_of_genes_on_glioma_outcomes_at_the_brain_cell_level_replicated_dataset_NR3C2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Setproteins 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 SetFrom 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 SetFrom 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. |
Left-right axis malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Left-right axis malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Conotruncal heart malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Conotruncal heart malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical malformations, occipital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical malformations, occipital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vascular Malformations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vascular Malformations from the curated CTD Gene-Disease Associations dataset. |
Intracranial Arteriovenous Malformations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Intracranial Arteriovenous Malformations from the curated CTD Gene-Disease Associations dataset. |
CAPILLARY MALFORMATIONS, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CAPILLARY MALFORMATIONS, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Nervous System Malformations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nervous System Malformations from the curated CTD Gene-Disease Associations dataset. |
Malformations of Cortical Development Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Malformations of Cortical Development from the curated CTD Gene-Disease Associations dataset. |
CONOTRUNCAL HEART MALFORMATIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONOTRUNCAL HEART MALFORMATIONS from the curated CTD Gene-Disease Associations dataset. |
Arteriovenous Malformations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arteriovenous Malformations from the curated CTD Gene-Disease Associations dataset. |
arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
malformations of cortical development Gene SetFrom GAD Gene-Disease Associations genes associated with the disease malformations of cortical development in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
vascular malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease vascular malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
phenytoin-induced congenital malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease phenytoin-induced congenital malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital cardiac malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital cardiac malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriovenous malformations; liver diseases; telangiectasia, hereditary hemorrhagic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriovenous malformations; liver diseases; telangiectasia, hereditary hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriovenous malformations; congenital arteriovenous malformation; hemorrhage Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; central nervous system vascular malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; central nervous system vascular malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebral hemorrhage; intracranial arteriovenous malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebral hemorrhage; intracranial arteriovenous malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anorectal malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anorectal malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
intracranial arteriovenous malformation; intracranial arteriovenous malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease intracranial arteriovenous malformation; intracranial arteriovenous malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
torsion abnormality; vascular malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease torsion abnormality; vascular malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
intracranial arteriovenous malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease intracranial arteriovenous malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; intracranial arteriovenous malformation; intracranial arteriovenous malformations; intracranial hemorrhages Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; intracranial arteriovenous malformation; intracranial arteriovenous malformations; intracranial hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
left-right axis malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease left-right axis malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
malformations Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term malformations in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
limbic malformations Gene SetFrom HPO Gene-Disease Associations genes associated with the limbic malformations phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hepatic vascular malformations Gene SetFrom HPO Gene-Disease Associations genes associated with the hepatic vascular malformations phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Central Nervous System Vascular Malformations Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Central Nervous System Vascular Malformations phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Vascular Malformations Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Vascular Malformations phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Intracranial Arteriovenous Malformations Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Intracranial Arteriovenous Malformations phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Nervous System Malformations Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Nervous System Malformations phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Malformations of Cortical Development Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Malformations of Cortical Development phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Arteriovenous Malformations Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Arteriovenous Malformations phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
conotruncal heart malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the conotruncal heart malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
capillary malformations, congenital, 1, somatic, mosaic Gene SetFrom OMIM Gene-Disease Associations genes associated with the capillary malformations, congenital, 1, somatic, mosaic phenotype from the curated OMIM Gene-Disease Associations dataset. |
{intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical malformations, occipital Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical malformations, occipital phenotype from the curated OMIM Gene-Disease Associations dataset. |
glomuvenous malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the glomuvenous malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
conotruncal heart malformations, variable Gene SetFrom OMIM Gene-Disease Associations genes associated with the conotruncal heart malformations, variable phenotype from the curated OMIM Gene-Disease Associations dataset. |
Malformations Of Cortical Development Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Malformations Of Cortical Development in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Left-Right Axis Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Left-Right Axis Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vein Of Galen Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vein Of Galen Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Specified Congenital Malformations Of Respiratory System Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Specified Congenital Malformations Of Respiratory System in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Congenital Malformations Of Anterior Segment Of Eye Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Congenital Malformations Of Anterior Segment Of Eye in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glomuvenous Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glomuvenous Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Malformations Of Cerebral Vessels Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Malformations Of Cerebral Vessels in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformations Of Palate, Not Elsewhere Classified In Icd10Cm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformations Of Palate, Not Elsewhere Classified In Icd10Cm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Specified Congenital Malformations Of Brain Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Specified Congenital Malformations Of Brain in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Congenital Malformations Of Spine, Not Associated With Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Congenital Malformations Of Spine, Not Associated With Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Conotruncal Heart Malformations (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Conotruncal Heart Malformations (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Congenital Corneal Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Congenital Corneal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cortical Malformations, Occipital Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cortical Malformations, Occipital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brain Malformations With Or Without Urinary Tract Defects Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Malformations With Or Without Urinary Tract Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Specified Congenital Malformations Of Skin Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Specified Congenital Malformations Of Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cortical Malformations Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cortical Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Facial Dysmorphism With Multiple Malformations Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Facial Dysmorphism With Multiple Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hepatic Vascular Malformations Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hepatic Vascular Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 2 with or without cortical malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 2 with or without cortical malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Complex cortical dysplasia with other brain malformations 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Complex cortical dysplasia with other brain malformations 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Arteriovenous malformations of the brain Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Arteriovenous malformations of the brain in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Complex cortical dysplasia with other brain malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Complex cortical dysplasia with other brain malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Complex cortical dysplasia with other brain malformations 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Complex cortical dysplasia with other brain malformations 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Complex cortical dysplasia with other brain malformations 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Complex cortical dysplasia with other brain malformations 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Complex cortical dysplasia with other brain malformations 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Complex cortical dysplasia with other brain malformations 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Complex cortical dysplasia with other brain malformations 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Complex cortical dysplasia with other brain malformations 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital Pulmonary Airway Malformations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital Pulmonary Airway Malformations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Developmental malformations-deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental malformations-deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Left-right axis malformations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Left-right axis malformations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Conotruncal heart malformations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Conotruncal heart malformations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Brain malformations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Brain malformations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
retina Gene SetFrom BioGPS Human Cell Type and Tissue Gene Expression Profiles genes with high or low expression in retina relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. |
retina Gene SetFrom BioGPS Mouse Cell Type and Tissue Gene Expression Profiles genes with high or low expression in retina relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. |
CCND1-20090754-RETINA-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the CCND1-20090754-RETINA-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
Fleck retina, familial benign Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fleck retina, familial benign phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
retina lymphoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease retina lymphoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
retina Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term retina in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
SYNCRIP_OE_GDS3186_84_mouse_wild type 129 mouse retina Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the SYNCRIP_OE_GDS3186_84_mouse_wild type 129 mouse retina gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
retina development in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retina development in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
retina layer formation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retina layer formation biological process from the curated GO Biological Process Annotations 2015 dataset. |
post-embryonic retina morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the post-embryonic retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of neural retina development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of neural retina development biological process from the curated GO Biological Process Annotations 2015 dataset. |
embryonic retina morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the embryonic retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
retina vasculature development in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retina vasculature development in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
retina morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
retina homeostasis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retina homeostasis biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of retina development in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of retina development in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
neural retina development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the neural retina development biological process from the curated GO Biological Process Annotations 2015 dataset. |
retina vasculature morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retina vasculature morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
abnormality of the retina Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of the retina phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
adult retina Gene SetFrom HPM Cell Type and Tissue Protein Expression Profiles proteins with high or low expression in adult retina relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset. |
aplasia/hypoplasia affecting the retina Gene SetFrom HPO Gene-Disease Associations genes associated with the aplasia/hypoplasia affecting the retina phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the retina Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the retina phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
angioid streaks of the retina Gene SetFrom HPO Gene-Disease Associations genes associated with the angioid streaks of the retina phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Neural retina-specific leucine zipper protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Neural retina-specific leucine zipper protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
retina microaneurysm Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the retina microaneurysm phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
calcified retina Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the calcified retina phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent retina Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent retina phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased total retina thickness Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased total retina thickness phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased total retina thickness Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased total retina thickness phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal retina morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal retina morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal retina outer limiting membrane morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal retina outer limiting membrane morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
retina coloboma Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the retina coloboma phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased ventral retina size Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased ventral retina size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal retina inner limiting membrane morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal retina inner limiting membrane morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal total retina thickness Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal total retina thickness phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
retina hyperplasia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the retina hyperplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
retina hypoplasia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the retina hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
[fleck retina, familial benign] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [fleck retina, familial benign] phenotype from the curated OMIM Gene-Disease Associations dataset. |
doyne honeycomb degeneration of retina Gene SetFrom OMIM Gene-Disease Associations genes associated with the doyne honeycomb degeneration of retina phenotype from the curated OMIM Gene-Disease Associations dataset. |
retina Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term retina in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
retina Gene SetFrom ProteomicsDB Cell Type and Tissue Protein Expression Profiles proteins with high or low expression in retina relative to other cell types and tissues from the ProteomicsDB Cell Type and Tissue Protein Expression Profiles dataset. |
retina Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue retina from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
neural retina Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue neural retina from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
retina Gene SetFrom TISSUES Experimental Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue retina in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. |
neural retina Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue neural retina in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
retina Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue retina in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Eye-retina horizontal cell Gene SetFrom Tabula Sapiens Gene-Cell Associations genes with high or low expression in Eye-retina horizontal cell relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. |
Atrophic Retina Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atrophic Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Coloboma Of The Retina Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Coloboma Of The Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Avascular Retina Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Avascular Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary Hemangioma Of Retina Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary Hemangioma Of Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Traction Detachment Of Retina Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Traction Detachment Of Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fleck Retina, Familial Benign Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fleck Retina, Familial Benign in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pattern Dystrophy Of The Retina Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pattern Dystrophy Of The Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bone Spicule Pigmentation Of The Retina Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bone Spicule Pigmentation Of The Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Yellow/White Lesions Of The Retina Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Yellow/White Lesions Of The Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
retina homeostasis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the retina homeostasis biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of neural retina development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of neural retina development biological process from the curated GO Biological Process Annotations 2023 dataset. |
embryonic retina morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2023 genes participating in the embryonic retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2023 dataset. |
retina vasculature development in camera-type eye Gene SetFrom GO Biological Process Annotations 2023 genes participating in the retina vasculature development in camera-type eye biological process from the curated GO Biological Process Annotations 2023 dataset. |
CRX-20693478-ADULT-RETINA-MOUSE Gene SetFrom ChEA Transcription Factor Targets 2022 target genes of the CRX-20693478-ADULT-RETINA-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. |
CRX-20693478-RETINA-MOUSE Gene SetFrom ChEA Transcription Factor Targets 2022 target genes of the CRX-20693478-RETINA-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. |
CCND1-20090754-RETINA-MOUSE Gene SetFrom ChEA Transcription Factor Targets 2022 target genes of the CCND1-20090754-RETINA-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. |
abnormal retina neuronal layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina neuronal layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina pigment epithelium morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina pigment epithelium morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina photoreceptor layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina photoreceptor layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina pigment epithelium hyperplasia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina pigment epithelium hyperplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
disorganized retina layers Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the disorganized retina layers phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina photoreceptor morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina photoreceptor morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina outer nuclear layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina outer nuclear layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina neovascularization Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina neovascularization phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina degeneration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased retina photoreceptor cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased retina photoreceptor cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina vasculature morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina vasculature morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina deposits Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina deposits phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina photoreceptor degeneration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina photoreceptor degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina outer nuclear layer degeneration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina outer nuclear layer degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
thin retina outer nuclear layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the thin retina outer nuclear layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased retina apoptosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased retina apoptosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina rod cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina rod cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina outer plexiform layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina outer plexiform layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased total retina thickness Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased total retina thickness phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina fold Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina fold phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina outer limiting membrane morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina outer limiting membrane morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina ganglion layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina ganglion layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina detachment Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina detachment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina inner nuclear layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina inner nuclear layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina cone bipolar cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina cone bipolar cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina rod bipolar cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina rod bipolar cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina ganglion cell degeneration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina ganglion cell degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased retina cone cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased retina cone cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
thin retina inner nuclear layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the thin retina inner nuclear layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina gliosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina gliosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina inner plexiform layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina inner plexiform layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina nerve fiber layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina nerve fiber layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent retina ganglion layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent retina ganglion layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal induced retina neovascularization Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal induced retina neovascularization phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina ganglion cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina ganglion cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent retina cone cells Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent retina cone cells phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent retina rod cells Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent retina rod cells phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent retina Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent retina phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina spots Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina spots phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
thin retina inner plexiform layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the thin retina inner plexiform layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
thin retina outer plexiform layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the thin retina outer plexiform layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina rod cell inner segment morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina rod cell inner segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina rod cell outer segment morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina rod cell outer segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina pigmentation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina apoptosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina apoptosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased retina apoptosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased retina apoptosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
disorganized retina ganglion layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the disorganized retina ganglion layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
disorganized retina inner nuclear layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the disorganized retina inner nuclear layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
disorganized retina outer nuclear layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the disorganized retina outer nuclear layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased total retina thickness Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased total retina thickness phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina cone cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina cone cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina cone cell degeneration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina cone cell degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina hypoplasia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina progenitor cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina progenitor cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased retina ganglion cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased retina ganglion cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
thin retina ganglion layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the thin retina ganglion layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina pigment epithelium atrophy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina pigment epithelium atrophy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased susceptibility to induced retina damage Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptibility to induced retina damage phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina cone cell outer segment morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina cone cell outer segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina hyperplasia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina hyperplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent retina horizontal cells Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent retina horizontal cells phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina fibrosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina fibrosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina bipolar cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina bipolar cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina rod cell degeneration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina rod cell degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina development Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina development phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina horizontal cell morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina horizontal cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased ventral retina size Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased ventral retina size phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased retina photoreceptor cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased retina photoreceptor cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina hemorrhage Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina hemorrhage phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
disorganized retina outer plexiform layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the disorganized retina outer plexiform layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina blood vessel pattern Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina blood vessel pattern phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased retina ganglion cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased retina ganglion cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent retina inner plexiform layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent retina inner plexiform layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
calcified retina Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the calcified retina phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina melanin granule morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina melanin granule morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased retina rod cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased retina rod cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased retina cone cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased retina cone cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina ischemia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina ischemia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina blood vessel morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina blood vessel morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina microaneurysm Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina microaneurysm phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal blood-retina barrier function Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal blood-retina barrier function phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina inner limiting membrane morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina inner limiting membrane morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent retina ganglion cell Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent retina ganglion cell phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
thick retina ganglion layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the thick retina ganglion layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina cone cell inner segment morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina cone cell inner segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina coloboma Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina coloboma phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
thick retina inner plexiform layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the thick retina inner plexiform layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina inner nuclear layer thickness Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina inner nuclear layer thickness phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal total retina thickness Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal total retina thickness phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased susceptilbility to retina ischemic injury Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptilbility to retina ischemic injury phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina outer nuclear layer thickness Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina outer nuclear layer thickness phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
serous retina detachment Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the serous retina detachment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina ganglion cell dendrite morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina ganglion cell dendrite morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased susceptilbility to retina ischemic injury Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased susceptilbility to retina ischemic injury phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
retina macular degeneration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the retina macular degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased retina rod cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased retina rod cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased retina vascular tortuosity Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased retina vascular tortuosity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina artery morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina artery morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina melanocyte morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal retina melanocyte morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal retina morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal retina morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
abnormal retina outer nuclear layer morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal retina outer nuclear layer morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
decreased total retina thickness Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the decreased total retina thickness phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
abnormal retina inner nuclear layer morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal retina inner nuclear layer morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
abnormal retina blood vessel morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal retina blood vessel morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
abnormal retina vasculature morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal retina vasculature morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
increased total retina thickness Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the increased total retina thickness phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Neural retina cell_Retina_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Neural retina cell_Retina_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Retina cell_Retina_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Retina cell_Retina_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Retina ganglion cell_Eye_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Retina ganglion cell_Eye_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
retina homeostasis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the retina homeostasis biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of neural retina development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of neural retina development biological process from the curated GO Biological Process Annotations 2025 dataset. |
embryonic retina morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2025 genes participating in the embryonic retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2025 dataset. |
retina vasculature development in camera-type eye Gene SetFrom GO Biological Process Annotations 2025 genes participating in the retina vasculature development in camera-type eye biological process from the curated GO Biological Process Annotations 2025 dataset. |
Retina lymphoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Retina lymphoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial benign fleck retina Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial benign fleck retina in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Retina Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Retina from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
Neural retina Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Neural retina from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
Retina Gene SetFrom TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Retina in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. |
Retina Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Retina in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Neural retina Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Neural retina in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Trichomegaly-retina pigmentary degeneration-dwarfism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom 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 SetFrom 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 SetFrom 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom Biocarta Pathways proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset. |
corticosteroids and cardioprotection Gene SetFrom Biocarta Pathways proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset. |
cyclins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
mechanism of acetaminophen activity and toxicity Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom Biocarta Pathways proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset. |
antigen processing and presentation Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom Biocarta Pathways proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset. |
melanocyte development and pigmentation pathway Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microtia, hearing impairment, and cleft palate Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile convulsions and paroxysmal choreoathetosis, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, optic nerve atrophy, and pelger-huet anomaly Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Neuropathy hereditary sensory and autonomic type 1 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anemia sideroblastic and spinocerebellar ataxia Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multicentric osteolysis, nodulosis and arthropathy Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcornea, myopic chorioretinal atrophy, and telecanthus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset. |
PBAF complex (Polybromo- and BAF containing complex) Gene Setproteins in the PBAF complex (Polybromo- and BAF containing complex) protein complex from the CORUM Protein Complexes dataset. |
Cleavage and polyadenylation factor (CPSF) Gene Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins in the 20S methylosome and RG-containing Sm protein complex protein complex from the CORUM Protein Complexes dataset. |
Amino Acids, Peptides, and Proteins Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblD Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset. |
Head and Neck Neoplasms Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER from the curated CTD Gene-Disease Associations dataset. |
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA Gene SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset. |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset. |
Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
Esophageal and Gastric Varices Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset. |
Religion and Psychology Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Religion and Psychology in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Attention Deficit and Disruptive Behavior Disorders Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Attention Deficit and Disruptive Behavior Disorders in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Body Weights and Measures Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Body Weights and Measures in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Nevi and Melanomas Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Nevi and Melanomas in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Head and Neck Neoplasms Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Head and Neck Neoplasms in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
degeneration of macula and posterior pole Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease degeneration of macula and posterior pole from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease eye and adnexa disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
combined t cell and b cell immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease combined t cell and b cell immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease eye and adnexa disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
inflammatory and toxic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease inflammatory and toxic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mucinous tubular and spindle renal cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mucinous tubular and spindle renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pustulosis of palm and sole Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pustulosis of palm and sole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hand, foot and mouth disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hand, foot and mouth disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
tooth and nail syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease tooth and nail syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
extrapyramidal and movement disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease extrapyramidal and movement disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mononeuritis of upper limb and mononeuritis multiplex Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mononeuritis of upper limb and mononeuritis multiplex in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
lung mixed small cell and squamous cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lung mixed small cell and squamous cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
autoimmune disease of skin and connective tissue Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autoimmune disease of skin and connective tissue in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
histiocytic and dendritic cell cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease histiocytic and dendritic cell cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
methylmalonic aciduria and homocystinuria type cblc Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease methylmalonic aciduria and homocystinuria type cblc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
germ cell and embryonal cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease germ cell and embryonal cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mixed endometrial stromal and smooth muscle tumor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mixed endometrial stromal and smooth muscle tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spinal canal and spinal cord meningioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spinal canal and spinal cord meningioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ovarian germ cell monodermal and highly specialized teratoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ovarian germ cell monodermal and highly specialized teratoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
degeneration of macula and posterior pole Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease degeneration of macula and posterior pole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
combined t cell and b cell immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease combined t cell and b cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mature t-cell and nk-cell lymphoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mature t-cell and nk-cell lymphoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease eye and adnexa disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
breast and lung cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease breast and lung cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
increased chromosome aberrations and higher lung cancer risk Gene SetFrom GAD Gene-Disease Associations genes associated with the disease increased chromosome aberrations and higher lung cancer risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
factor viii and factor ix genes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease factor viii and factor ix genes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
flecainide and paroxetine Gene SetFrom GAD Gene-Disease Associations genes associated with the disease flecainide and paroxetine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pre-term delivery infant mortality and malaria morbidity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pre-term delivery infant mortality and malaria morbidity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alopecia and lumbar herniated disk Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alopecia and lumbar herniated disk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
baroreflex and blood pressure regulation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease baroreflex and blood pressure regulation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neuropathy, hereditary motor and sensory Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neuropathy, hereditary motor and sensory in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
psoriasis, psoriatic arthritis, and sapho syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease psoriasis, psoriatic arthritis, and sapho syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
platelet reactivity and clopidogrel resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease platelet reactivity and clopidogrel resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; neoplasms, germ cell and embryonal; neoplasms, testis; testicular neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; neoplasms, germ cell and embryonal; neoplasms, testis; testicular neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low mpa exposure and acute rejection in mmf/tacrolimus-treated kidney transplant patients Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low mpa exposure and acute rejection in mmf/tacrolimus-treated kidney transplant patients in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
jervell and lange-nielsen syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease jervell and lange-nielsen syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anovulation and fecundity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anovulation and fecundity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
proteinuria and cardiovascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease proteinuria and cardiovascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thyroid and neurological abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thyroid and neurological abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
homocysteine, folate and vitamin b12 levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease homocysteine, folate and vitamin b12 levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension and obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension and obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
child hyperactivity-impulsivity and oppositional behaviors Gene SetFrom GAD Gene-Disease Associations genes associated with the disease child hyperactivity-impulsivity and oppositional behaviors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
head and neck squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease head and neck squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
asthma and atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease asthma and atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv-rna and cellular hiv-dna levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv-rna and cellular hiv-dna levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin release and insulin sensitivity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin release and insulin sensitivity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hip bone loss and fracture Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hip bone loss and fracture in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
risperidone and perospirone Gene SetFrom GAD Gene-Disease Associations genes associated with the disease risperidone and perospirone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infectious risk and outcome in surgical intensive care patients Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infectious risk and outcome in surgical intensive care patients in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip and palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip and palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
reduced muscle mrna levels and insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease reduced muscle mrna levels and insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemostatic factors and hematological phenotypes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemostatic factors and hematological phenotypes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
reduced gene expression and lower plasma levels of beta2-glycoprotein i Gene SetFrom GAD Gene-Disease Associations genes associated with the disease reduced gene expression and lower plasma levels of beta2-glycoprotein i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarche and menopause (age at onset) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarche and menopause (age at onset) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple organ failure; sepsis; shock, septic; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple organ failure; sepsis; shock, septic; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dna damage; head and neck neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dna damage; head and neck neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, squamous cell; head and neck neoplasms; neoplasms, second primary; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, squamous cell; head and neck neoplasms; neoplasms, second primary; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adiposity and abdominal obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adiposity and abdominal obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
breast and carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease breast and carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
tropical pancreatitis and type ii diabetes mellitus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease tropical pancreatitis and type ii diabetes mellitus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polymyositis and dermatomyositis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polymyositis and dermatomyositis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
head and neck neoplasms; neoplasms, squamous cell Gene SetFrom GAD Gene-Disease Associations genes associated with the disease head and neck neoplasms; neoplasms, squamous cell in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
asthma; atopy; dermatitis and eczema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease asthma; atopy; dermatitis and eczema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple organ failure; sepsis; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple organ failure; sepsis; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
head and neck neoplasms; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease head and neck neoplasms; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
non-syndromic cleft lip and palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease non-syndromic cleft lip and palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
postoperative nausea and vomiting Gene SetFrom GAD Gene-Disease Associations genes associated with the disease postoperative nausea and vomiting in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
calcium homeostasis and peripheral bone density Gene SetFrom GAD Gene-Disease Associations genes associated with the disease calcium homeostasis and peripheral bone density in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colorectal adenomatous polyps and adenocarcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colorectal adenomatous polyps and adenocarcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin and homa levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin and homa levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
financial and psychological risk attitudes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease financial and psychological risk attitudes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mother and child behavior Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mother and child behavior in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
rna expression of carboxylesterases 1 and 2. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease rna expression of carboxylesterases 1 and 2. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cigarette smoking behavior and reward Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cigarette smoking behavior and reward in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, squamous cell; chromosome deletion; head and neck neoplasms; squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, squamous cell; chromosome deletion; head and neck neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |