Harmonizome 3.0

two pore segment channel 1

Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008]

dishevelled segment polarity protein 1 pseudogene 1

Predicted to enable frizzled binding activity. Predicted to be involved in canonical Wnt signaling pathway. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Implicated in DiGeorge syndrome. [provided by Alliance of Genome Resources, Mar 2025]

dishevelled segment polarity protein 2

This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008]

dishevelled segment polarity protein 3

This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008]

DNA segment on chromosome 6 (unique, pseudogene) 2723 expressed sequence

Oncogene liposarcoma (DNA segment, single copy, expressed, probes

retinal outer segment membrane protein 1

This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]

Foveal hypoplasia and anterior segment dysgenesis

two pore segment channel 2

This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]

sperm equatorial segment protein 1

The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010]

Hirschsprung disease, short-segment, 3

Hirschsprung disease, short-segment, 2

dishevelled segment polarity protein 1

DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]

From HPO Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease St Segment Elevation Myocardial Infarction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Non St Segment Elevation Acute Coronary Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Non St Segment Elevation Myocardial Infarction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Non-St-Segment Elevation Myocardial Infarction (Nstemi) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease St-Segment Elevation Myocardial Infarction (Stemi) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute St Segment Elevation Myocardial Infarction (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype St Segment Elevation (Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Acute Non-St Segment Elevation Myocardial Infarction (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

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

From CTD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease non-st-elevation acute coronary syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

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

From GO Biological Process Annotations 2015

genes participating in the lysosomal lumen ph elevation biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the ph elevation biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the intracellular ph elevation biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the neural fold elevation formation biological process from the curated GO Biological Process Annotations 2015 dataset.

From HPO Gene-Disease Associations

genes associated with the polyclonal elevation of igm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

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

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal neural fold elevation formation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal palatal shelf elevation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the failure of palatal shelf elevation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From OMIM Gene-Disease Associations

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

From OMIM Gene-Disease Associations

genes associated with the sweat chloride elevation without cf phenotype from the curated OMIM Gene-Disease Associations dataset.

From Reactome Pathways 2014

proteins participating in the Elevation of cytosolic Ca2+ levels pathway from the Reactome Pathways dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Non-St Elevation (Nstemi) Myocardial Infarction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Sweat Chloride Elevation Without Cystic Fibrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Isolated Asymptomatic Elevation Of Creatine Phosphokinase in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Polyclonal Elevation Of Igm in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

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

From GO Biological Process Annotations 2023

genes participating in the intracellular pH elevation biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the lysosomal lumen pH elevation biological process from the curated GO Biological Process Annotations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the failure of palatal shelf elevation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal neural fold elevation formation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal palatal shelf elevation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the delayed palatal shelf elevation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From Reactome Pathways 2024

proteins participating in the Elevation of cytosolic Ca2+ levels pathway from the Reactome Pathways 2024 dataset.

From GO Biological Process Annotations 2025

genes participating in the intracellular pH elevation biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the lysosomal lumen pH elevation biological process from the curated GO Biological Process Annotations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Sweat chloride elevation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Uric acid elevation in response to thiazide-like diuretic in hypertension phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in globus pallidus, internal segment, right relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in globus pallidus, external segment, right relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in globus pallidus, internal segment, left relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in globus pallidus, external segment, left relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Globus pallidus, internal segment relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Globus pallidus, external segment relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in internal segment of globus pallidus relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in external segment of globus pallidus relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Anterior segment mesenchymal dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the photoreceptor outer segment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the photoreceptor inner segment membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the photoreceptor inner segment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the axon initial segment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the photoreceptor outer segment membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the photoreceptor outer segment membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the photoreceptor outer segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the photoreceptor inner segment membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the photoreceptor inner segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the axon initial segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anterior segment mesenchymal dysgenesis from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Foveal Hypoplasia and Anterior Segment Dysgenesis from the curated CTD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

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

From GO Biological Process Annotations 2015

genes participating in the proximal convoluted tubule segment 2 development biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the metanephric proximal convoluted tubule segment 2 development biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the photoreceptor cell outer segment organization biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the protein localization to photoreceptor outer segment biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the segment specification biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Cellular Component Annotations 2015

proteins localized to the photoreceptor outer segment membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GO Cellular Component Annotations 2015

proteins localized to the photoreceptor outer segment cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GO Cellular Component Annotations 2015

proteins localized to the photoreceptor inner segment membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GO Cellular Component Annotations 2015

proteins localized to the photoreceptor inner segment cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GO Cellular Component Annotations 2015

proteins localized to the axon initial segment cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the PR segment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the posterior segment of the eye phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the anterior segment of the eye phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From HPO Gene-Disease Associations

genes associated with the increased upper to lower segment ratio phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of the anterior segment of the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

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

From HPO Gene-Disease Associations

genes associated with the long-segment aganglionic megacolon phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia affecting the anterior segment of the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormal upper to lower segment ratio phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the anterior segment of eye aplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

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

From HPO Gene-Disease Associations

genes associated with the abnormality of the posterior segment of the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Misato Segment II tubulin-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sperm equatorial segment protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the disorganized photoreceptor inner segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the short photoreceptor inner segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal cone cell inner segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the short photoreceptor outer segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal rod cell outer segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the absent photoreceptor outer segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the photoreceptor inner segment degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal photoreceptor outer segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal st segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the absent photoreceptor inner segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the disorganized photoreceptor outer segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal loop of henle ascending limb thick segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the photoreceptor outer segment degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal axon initial segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal anterior eye segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal rod cell inner segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal photoreceptor inner segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal posterior eye segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the prolonged st segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal cone cell outer segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the anterior segment mesenchymal dysgenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the anterior segment anomalies with or without cataract phenotype from the curated OMIM Gene-Disease Associations dataset.

From PANTHER Pathways

proteins participating in the Heterotrimeric G-protein signaling pathway-rod outer segment phototransduction pathway from the PANTHER Pathways dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Segment Hirschsprung'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Anomaly Of Anterior Segment Of Eye in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From 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.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Anterior Segment Anomalies With Or Without Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Foveal Hypoplasia And Anterior Segment Dysgenesis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype St Segment Depression (Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Increased Upper To Lower Segment Ratio in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Anterior Segment Of Eye Aplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Foveal Photoreceptor Outer Segment Loss On Macular Oct in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

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

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormal Upper To Lower Segment Ratio in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From GO Biological Process Annotations 2023

genes participating in the photoreceptor cell outer segment organization biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the protein localization to photoreceptor outer segment biological process from the curated GO Biological Process Annotations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal anterior eye segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal photoreceptor outer segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal photoreceptor inner segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the photoreceptor outer segment degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short photoreceptor outer segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short photoreceptor inner segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the disorganized photoreceptor outer segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From 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.

From 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.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent photoreceptor outer segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal loop of Henle ascending limb thick segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent photoreceptor inner segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From 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.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal ST segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal posterior eye segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the disorganized photoreceptor inner segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From 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.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the photoreceptor inner segment degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the prolonged ST segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal axon initial segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal photoreceptor outer segment size phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the shortened ST segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent segment of posterior cerebral artery phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent intrahepatic inferior vena cava segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent segment of anterior cerebral artery phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent extracranial vertebral artery segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent intracranial segment of vertebral artery phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent canalicular internal carotid artery segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent portal vein segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent basilar artery segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal photoreceptor outer segment disc membrane morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal photoreceptor outer segment diameter phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased photoreceptor outer segment number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the long photoreceptor outer segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the prolonged ST segment phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the shortened ST segment phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L2 - Proximal Tubule Epithelial Segment 1 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L2 - Proximal Tubule Epithelial Segment 2 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L2 - Proximal Tubule Epithelial Segment 3 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L3 - Proximal Tubule Epithelial Segment 1 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L3 - Proximal Tubule Epithelial Segment 2 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L3 - Proximal Tubule Epithelial Segment 3 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From CellMarker Gene-Cell Type Associations

genes associated with the Anterior segment cell_Retina_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal segment cell_Fetal kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

From CellMarker Gene-Cell Type Associations

genes associated with the Medial and distal segment cell_Fetal kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Kidney_CT1_Proximal Tubule Epithelial Cell Segment 1 cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Kidney_CT1_Proximal Tubule Epithelial Cell Segment 2 cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Kidney_CT1_Proximal Tubule Cell Epithelial Segment 3 cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Kidney_CT1_Proximal Tubule Cell Epithelial Segment 3 cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Kidney_CT1_Proximal Tubule Epithelial Cell Segment 1 cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Kidney_CT1_Proximal Tubule Epithelial Cell Segment 2 cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From GO Biological Process Annotations 2025

genes participating in the photoreceptor cell outer segment organization biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the protein localization to photoreceptor outer segment biological process from the curated GO Biological Process Annotations 2025 dataset.

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

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

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

genes co-occuring with the disease Anterior segment dysgenesis 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Anterior segment dysgenesis 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Anterior segment dysgenesis 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

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

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

genes co-occuring with the disease Anterior segment dysgenesis 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Anterior segment dysgenesis 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Photoreceptor outer segment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Photoreceptor outer segment membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Photoreceptor inner segment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Photoreceptor inner segment membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Cone photoreceptor outer segment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Axon initial segment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Rod photoreceptor outer segment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Photoreceptor outer segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Axon initial segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Photoreceptor inner segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Rod photoreceptor outer segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Cone photoreceptor outer segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Accessory outer segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Photoreceptor outer segment membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Photoreceptor inner segment membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the PR segment duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.