| Name |
|---|
LOC100422623 Genecarcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) pseudogene |
PBC3 GeneBiliary cirrhosis, primary, 3 |
PBC2 GeneBiliary cirrhosis, primary, 2 |
PBC5 GeneBiliary cirrhosis, primary, 5 |
PBC4 GeneBiliary cirrhosis, primary, 4 |
CEACAM1 Genecarcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010] |
SHFLD3 GeneSplit-hand/foot malformation with long bone deficiency 3 |
CCM2 Genecerebral cavernous malformation 2 This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009] |
SHFLD2 GeneSplit-hand/foot malformation with long deficiency 2 |
SHFL1 GeneSplit-hand/foot malformation with long bone deficiency 1 |
CCM2L Genecerebral cavernous malformation 2-like Predicted to be involved in heart morphogenesis. Predicted to act upstream of or within several processes, including heart development; negative regulation of homotypic cell-cell adhesion; and positive regulation of fibroblast growth factor production. [provided by Alliance of Genome Resources, Mar 2025] |
SHFM1P1 Genesplit hand/foot malformation (ectrodactyly) type 1 pseudogene 1 |
SHFM3 GeneSplit-hand/foot malformation 3 |
SHFM2 Genesplit hand/foot malformation (ectrodactyly) type 2 |
SHFM1 Genesplit hand/foot malformation (ectrodactyly) type 1 The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008] |
SHFM5 Genesplit hand/foot malformation (ectrodactyly) type 5 |
Biliary Atresia With Splenic Malformation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Atresia With Splenic Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
biliary calculi; biliary tract neoplasm; biliary tract neoplasms; gallstones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary calculi; biliary tract neoplasm; biliary tract neoplasms; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Capillary malformation-arteriovenous malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Capillary malformation-arteriovenous malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Biliary Atresia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Biliary Atresia from the curated CTD Gene-Disease Associations dataset. |
biliary atresia Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease biliary atresia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
biliary atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease biliary atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cholestasis; biliary atresia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholestasis; biliary atresia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary atresia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary atresia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary atresia; choledochal cyst; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary atresia; choledochal cyst; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary atresia; liver diseases; primary graft dysfunction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary atresia; liver diseases; primary graft dysfunction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary atresia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary atresia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Biliary atresia Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Biliary atresia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
biliary atresia Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease biliary atresia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
biliary atresia Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the biliary atresia phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
biliary atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the biliary atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Biliary Atresia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Biliary Atresia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Biliary Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Extrahepatic Biliary Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Extrahepatic Biliary Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Extrahepatic Biliary Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Extrahepatic Biliary Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intrahepatic Biliary Atresia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intrahepatic Biliary Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
biliary atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the biliary atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Biliary atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Biliary atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Biliary atresia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Biliary atresia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Capillary malformation without arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Capillary malformation without arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Capillary malformation-arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Capillary malformation-arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Capillary Malformation-Arteriovenous Malformation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Capillary Malformation-Arteriovenous Malformation from the curated CTD Gene-Disease Associations dataset. |
capillary malformation-arteriovenous malformation Gene SetFrom OMIM Gene-Disease Associations genes associated with the capillary malformation-arteriovenous malformation phenotype from the curated OMIM Gene-Disease Associations dataset. |
Capillary Malformation Without Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary Malformation Without Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary malformation-arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Capillary malformation-arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
autoimmune diseases; biliary cirrhosis; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; biliary cirrhosis; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary cirrhosis; cholangitis, sclerosing; cystic fibrosis; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary cirrhosis; cholangitis, sclerosing; cystic fibrosis; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenocarcinoma; biliary tract neoplasm; biliary tract neoplasms; chromosome deletion; diabetes complications; pancreatic neoplasm; pancreatic neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; biliary tract neoplasm; biliary tract neoplasms; chromosome deletion; diabetes complications; pancreatic neoplasm; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary tract neoplasm; biliary tract neoplasms; digestive system neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary tract neoplasm; biliary tract neoplasms; digestive system neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary cirrhosis; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary cirrhosis; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary duct stones; biliary tract cancer; gallbladder cancer; gallstones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary duct stones; biliary tract cancer; gallbladder cancer; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary cirrhosis; liver cirrhosis, biliary; osteoporosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary cirrhosis; liver cirrhosis, biliary; osteoporosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary tract neoplasm; biliary tract neoplasms; cholangiocarcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary tract neoplasm; biliary tract neoplasms; cholangiocarcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary cirrhosis; hepatitis, autoimmune; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary cirrhosis; hepatitis, autoimmune; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Splenic hypoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Splenic hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Splenic Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Splenic Diseases from the curated CTD Gene-Disease Associations dataset. |
splenic tuberculosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease splenic tuberculosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
splenic artery aneurysm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease splenic artery aneurysm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
splenic sequestration Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease splenic sequestration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
splenic infarction Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease splenic infarction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
splenic abscess Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease splenic abscess in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
splenic disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease splenic disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
splenic marginal zone lymphoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease splenic marginal zone lymphoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
splenic flexure cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease splenic flexure cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
gastrointestinal stromal tumors; liver neoplasms; lung neoplasms; neoplasm recurrence, local; neoplasm seeding; neoplasm, residual; splenic neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gastrointestinal stromal tumors; liver neoplasms; lung neoplasms; neoplasm recurrence, local; neoplasm seeding; neoplasm, residual; splenic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphoma; splenic neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphoma; splenic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
splenic Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term splenic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
splenic rupture Gene SetFrom HPO Gene-Disease Associations genes associated with the splenic rupture phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Splenic Neoplasms Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Splenic Neoplasms phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
abnormal splenic cell ratio Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal splenic cell ratio phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased splenic marginal zone lymphoma incidence Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased splenic marginal zone lymphoma incidence phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Splenic Hypoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Splenic Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Splenic Marginal Zone B-Cell Lymphoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Splenic Marginal Zone B-Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Splenic Infarction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Splenic Infarction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Splenic Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Splenic Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Splenic Diffuse Red Pulp Small B-Cell Lymphoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Splenic Diffuse Red Pulp Small B-Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Splenic Sequestration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Splenic Sequestration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Splenic Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Splenic Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Splenic Varices Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Splenic Varices in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
abnormal splenic cell ratio Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal splenic cell ratio phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased splenic marginal zone lymphoma incidence Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased splenic marginal zone lymphoma incidence phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Splenic macrophage_Undefined_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Splenic macrophage_Undefined_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Splenic Pre-GC cell_Undefined_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Splenic Pre-GC cell_Undefined_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Splenic disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Splenic disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Splenic disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Splenic disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Splenic abscess Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Splenic abscess in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Splenic infarction Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Splenic infarction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Splenic sequestration Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Splenic sequestration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Splenic marginal zone lymphoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Splenic marginal zone lymphoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Splenic tuberculosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Splenic tuberculosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Splenic artery aneurysm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Splenic artery aneurysm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Splenic flexure cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Splenic flexure cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Splenic manifestation of leukemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Splenic manifestation of leukemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anophthalmia/microphthalmia-esophageal atresia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Anophthalmia/microphthalmia-esophageal atresia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lymphedema-posterior choanal atresia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lymphedema-posterior choanal atresia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-capillary malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly-capillary malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
microcephaly-capillary malformation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly-capillary malformation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation 3, gene duplication syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation 3, gene duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
megalencephaly-capillary malformation-polymicrogyria syndrome, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephaly-capillary malformation-polymicrogyria syndrome, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Malformation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Segmental Outgrowth, Lipomatosis, Arteriovenous Malformation, Epidermal Nevus Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Segmental Outgrowth, Lipomatosis, Arteriovenous Malformation, Epidermal Nevus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Heart And Brain Malformation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart And Brain Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Megalencephaly-capillary malformation-polymicrogyria syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Megalencephaly-capillary malformation-polymicrogyria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-capillary malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly-capillary malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Split-foot malformation-mesoaxial polydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Split-foot malformation-mesoaxial polydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Heart and brain malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Heart and brain malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Genitourinary and/or brain malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Genitourinary and/or brain malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Epidermolysis bullosa simplex with pyloric atresia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa simplex with pyloric atresia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa with pyloric atresia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa with pyloric atresia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyloric Atresia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Atresia from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis bullosa with pyloric atresia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis bullosa with pyloric atresia 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. |
Epidermolysis Bullosa Simplex With Pyloric Atresia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Simplex With Pyloric Atresia from the curated CTD Gene-Disease Associations dataset. |
intestinal atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease intestinal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
multiple intestinal atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease multiple intestinal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
esophageal atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease esophageal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
choanal atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease choanal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
esophageal atresia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease esophageal atresia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent Gene SetFrom GAD Gene-Disease Associations genes associated with the disease double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atresia Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term atresia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
ovarian follicle atresia Gene SetFrom GO Biological Process Annotations 2015 genes participating in the ovarian follicle atresia biological process from the curated GO Biological Process Annotations 2015 dataset. |
laryngeal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the laryngeal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
anal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the anal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
genital tract atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the genital tract atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
jejunal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the jejunal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
aortic valve atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the aortic valve atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
gastrointestinal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the gastrointestinal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
vaginal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the vaginal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
distal ileal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the distal ileal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
posterior choanal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the posterior choanal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intestinal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the intestinal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ureteral atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the ureteral atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
duodenal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the duodenal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
esophageal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the esophageal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
atrioventricular canal defect with right ventricle aorta and pulmonary atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the atrioventricular canal defect with right ventricle aorta and pulmonary atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
choanal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the choanal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mitral atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the mitral atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
atresia of the external auditory canal Gene SetFrom HPO Gene-Disease Associations genes associated with the atresia of the external auditory canal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lacrimal duct atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the lacrimal duct atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
urethral atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the urethral atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
pulmonary artery atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the pulmonary artery atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital pyloric atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital pyloric atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ileal atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the ileal atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Choanal Atresia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Choanal Atresia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Tricuspid Atresia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Tricuspid Atresia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Esophageal Atresia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Esophageal Atresia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Intestinal Atresia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Intestinal Atresia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
aortic valve atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the aortic valve atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
anal atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the anal atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
oral atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the oral atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
urethra atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the urethra atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
rectal atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the rectal atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
cecal atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the cecal atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
mitral valve atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the mitral valve atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
esophageal atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the esophageal atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
pulmonary valve atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the pulmonary valve atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
choanal atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the choanal atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ureteropelvic junction atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the ureteropelvic junction atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
uterus atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the uterus atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
vagina atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the vagina atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
tricuspid valve atresia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the tricuspid valve atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
intestinal atresia, multiple Gene SetFrom OMIM Gene-Disease Associations genes associated with the intestinal atresia, multiple phenotype from the curated OMIM Gene-Disease Associations dataset. |
aural atresia, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the aural atresia, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, junctional, with pyloric atresia Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, junctional, with pyloric atresia phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex with pyloric atresia Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex with pyloric atresia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
choanal atresia and lymphedema Gene SetFrom OMIM Gene-Disease Associations genes associated with the choanal atresia and lymphedema phenotype from the curated OMIM Gene-Disease Associations dataset. |
Aural Atresia, Congenital Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Aural Atresia, Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Esophageal Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Esophageal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Extrahepatic Bile Duct Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Extrahepatic Bile Duct in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pyloric Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pyloric Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Choanal Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Choanal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Pulmonary Artery Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Pulmonary Artery in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Mitral Valve Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Mitral Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Nasopharynx Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Nasopharynx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Large Intestine Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Large Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tricuspid Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tricuspid Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Urethral Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Urethral Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anorectal Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anorectal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Esophageal Atresia With Or Without Tracheoesophageal Fistula Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Esophageal Atresia With Or Without Tracheoesophageal Fistula in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duodenal Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duodenal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Jejunal Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Jejunal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Jejunal Atresia With Microcephaly And Ocular Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Jejunal Atresia With Microcephaly And Ocular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bilateral Choanal Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bilateral Choanal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Pulmonary Valve Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Pulmonary Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intestinal Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intestinal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Pyloric Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Pyloric Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bilateral Choanal Atresia/Stenosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bilateral Choanal Atresia/Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arhinia, Choanal Atresia, And Microphthalmia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arhinia, Choanal Atresia, And Microphthalmia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pulmonary Atresia With Ventricular Septal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pulmonary Atresia With Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gastrointestinal Atresia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gastrointestinal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Larynx Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Larynx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Trachea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Trachea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Vas Deferens Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Vas Deferens in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pulmonary Atresia With Intact Ventricular Septum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pulmonary Atresia With Intact Ventricular Septum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Aortic Valve Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Aortic Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Colon Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Colon in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Rectum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Rectum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Esophageal Atresia With Tracheoesophageal Fistula (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Esophageal Atresia With Tracheoesophageal Fistula (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence, Atresia And Stricture Of Auditory Canal (External) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence, Atresia And Stricture Of Auditory Canal (External) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Atresia Of Ileum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Atresia Of Ileum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Choanal Atresia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Choanal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Distal Ileal Atresia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Distal Ileal Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Atresia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
cecal atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the cecal atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
vagina atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the vagina atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
mitral valve atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the mitral valve atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
blood vessel atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the blood vessel atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
anal atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the anal atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
esophageal atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the esophageal atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
oral atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the oral atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ureteropelvic junction atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ureteropelvic junction atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
tricuspid valve atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the tricuspid valve atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
choanal atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the choanal atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
urethra atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the urethra atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
rectal atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the rectal atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
uterus atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the uterus atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
pulmonary valve atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the pulmonary valve atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
aortic valve atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the aortic valve atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
colon atresia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the colon atresia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Junctional epidermolysis bullosa with pyloric atresia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Junctional epidermolysis bullosa with pyloric atresia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Choanal atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Choanal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple intestinal atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple intestinal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intestinal atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intestinal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Esophageal atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Esophageal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Duodenal atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Duodenal atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tricuspid atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tricuspid atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Esophageal atresia/tracheoesophageal fistula Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Esophageal atresia/tracheoesophageal fistula in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Junctional epidermolysis bullosa with pyloric atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Junctional epidermolysis bullosa with pyloric atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Esophageal atresia/tracheoesophageal fistula Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Esophageal atresia/tracheoesophageal fistula phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Aural atresia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Aural atresia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Aortic valve atresia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Aortic valve atresia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitral atresia disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitral atresia disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pulmonary atresia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pulmonary atresia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pulmonary artery atresia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pulmonary artery atresia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Esophageal atresia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Esophageal atresia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dandy-Walker like malformation with atrioventricular septal defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dandy-Walker like malformation with atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Malformation of the heart Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Malformation of the heart phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Split-hand/foot malformation 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Split-hand/foot malformation 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Split-hand/foot malformation 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Split-hand/foot malformation 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Split-hand/foot malformation 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Split-hand/foot malformation 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Split-hand/foot malformation 1 with sensorineural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Split-hand/foot malformation 1 with sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Split-Hand/Foot Malformation 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation 6 from the curated CTD Gene-Disease Associations dataset. |
Arnold-Chiari Malformation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arnold-Chiari Malformation from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation 4 from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation 5 from the curated CTD Gene-Disease Associations dataset. |
SPLIT-HAND/FOOT MALFORMATION 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPLIT-HAND/FOOT MALFORMATION 2 from the curated CTD Gene-Disease Associations dataset. |
Split-hand/foot malformation with long bone deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset. |
arteriovenous malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease arteriovenous malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 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. |
chiari type i malformation and syringomyelia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chiari type i malformation and syringomyelia 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. |
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. |
wilms' tumor and congenital male genitourinary malformation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease wilms' tumor and congenital male genitourinary malformation 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. |
optic nerve malformation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease optic nerve malformation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
malformation Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term malformation in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Congenital heart malformation Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Congenital heart malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
thyroid malformation Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease thyroid malformation in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
malformation of the heart and great vessels Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the malformation of the heart and great vessels phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
malformation of the heart and great vessels Gene SetFrom HPO Gene-Disease Associations genes associated with the malformation of the heart and great vessels phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
external ear malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the external ear malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
gastrointestinal arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the gastrointestinal arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hepatic arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the hepatic arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cerebral arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the cerebral arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
arnold-chiari malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the arnold-chiari malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the great arteries Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the great arteries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cochlear malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the cochlear malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
retinal vascular malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the retinal vascular malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
arnold-chiari type i malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the arnold-chiari type i malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
pulmonary arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the pulmonary arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
retinal malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the retinal malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
malformation of the hepatic ductal plate Gene SetFrom HPO Gene-Disease Associations genes associated with the malformation of the hepatic ductal plate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
venous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the venous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dandy-walker malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the dandy-walker malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the right heart Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the right heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the left heart Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the left heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spinal arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the spinal arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cerebellar malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the cerebellar malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Arnold-Chiari Malformation Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Arnold-Chiari Malformation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
cerebral arteriovenous malformation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the cerebral arteriovenous malformation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
pulmonary arteriovenous malformation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the pulmonary arteriovenous malformation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
arteriovenous malformation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the arteriovenous malformation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
split hand/foot malformation 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split hand/foot malformation 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split hand/foot malformation 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split hand/foot malformation 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?split-hand/foot malformation 1 with sensorineural hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?split-hand/foot malformation 1 with sensorineural hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation with long bone deficiency 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation with long bone deficiency 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation with long bone deficiency 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation with long bone deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation with long bone deficiency 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation with long bone deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Cerebellar Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebellar Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Placental Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Placental Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Venous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Venous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arteriovenous Malformation Of Liver Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arteriovenous Malformation Of Liver in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary Malformation-Arteriovenous Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary Malformation-Arteriovenous in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Pulmonary Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Pulmonary Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gastrointestinal Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gastrointestinal Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intracranial Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intracranial Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pulmonary Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pulmonary Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spinal Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spinal Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rieger Eye Malformation Sequence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rieger Eye Malformation Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Skeletal Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Skeletal Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary Malformation (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary Malformation (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arnold Chiari Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arnold Chiari Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Of Corpus Callosum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of Corpus Callosum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gastrointestinal Vascular Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gastrointestinal Vascular Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Of The Left Heart Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of The Left Heart in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Split-Hand/Foot Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chiari Malformation Type Ii Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chiari Malformation Type Ii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Parachute Malformation Of Mitral Valve Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Parachute Malformation Of Mitral Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Specified Congenital Malformation Syndromes, Not Elsewhere Classified In Icd10Cm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Specified Congenital Malformation Syndromes, Not Elsewhere Classified In Icd10Cm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Split-Hand-Foot Malformation With Long Bone Deficiency 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Split-Hand-Foot Malformation With Long Bone Deficiency 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Split-Hand-Foot Malformation With Sensorineural Hearing Loss Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Split-Hand-Foot Malformation With Sensorineural Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Of Cerebral Vessels Nos Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of Cerebral Vessels Nos 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. |
Corpus Callosum Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Corpus Callosum Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cystic Adenomatoid Malformation Of Lung, Congenital Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cystic Adenomatoid Malformation Of Lung, Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vascular Malformation, Primary Intraosseous Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vascular Malformation, Primary Intraosseous in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cutaneous Capillary Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cutaneous Capillary Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lymphatic Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphatic Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pulmonary Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pulmonary Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cutaneous Vascular Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cutaneous Vascular Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Congenital Malformation Syndromes With Other Skeletal Changes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Congenital Malformation Syndromes With Other Skeletal Changes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intracranial Arteriovenous Malformation, Ruptured Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intracranial Arteriovenous Malformation, Ruptured in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Of Cornea Nos Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of Cornea Nos in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary-Venous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary-Venous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Scoliosis Due To Bony Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Scoliosis Due To Bony Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Of Cardiac Chambers And Connections, Unspecified Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of Cardiac Chambers And Connections, Unspecified in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Split-Foot Malformation With Mesoaxial Polydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Split-Foot Malformation With Mesoaxial Polydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Anorectal Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Anorectal Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ductal Plate Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ductal Plate Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Retinal Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Retinal Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Lymphatic Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Lymphatic Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cochlear Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cochlear Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Arterial Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Arterial Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Inner Ear Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Inner Ear Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Malformation Of The Hepatic Ductal Plate Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Malformation Of The Hepatic Ductal Plate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Retinal Vascular Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Retinal Vascular Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Laryngeal Cartilage Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Laryngeal Cartilage Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Dieulafoy'S Vascular Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dieulafoy'S Vascular Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
arteriovenous malformation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the arteriovenous malformation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
pulmonary arteriovenous malformation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the pulmonary arteriovenous malformation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
cerebral arteriovenous malformation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the cerebral arteriovenous malformation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Ebstein's malformation of tricuspid valve Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the Ebstein's malformation of tricuspid valve phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 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. |
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. |
Arteriovenous malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Arteriovenous malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lissencephaly 9 with complex brainstem malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lissencephaly 9 with complex brainstem malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 1 with sensorineural hearing loss Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 1 with sensorineural hearing loss in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thyroid malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thyroid malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
CSF1R-related brain malformation and osteopetrosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease CSF1R-related brain malformation and osteopetrosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ear malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ear malformation phenotype from the curated ClinVar Gene-Phenotype Associations 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. |
Split hand-foot malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Split hand-foot malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glomuvenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glomuvenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebral arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebral arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Vascular malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vascular malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rare venous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rare venous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rare combined vascular malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rare combined vascular malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Capillary malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Capillary malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lymphatic malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lymphatic malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Malformation of the heart and great vessels Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Malformation of the heart and great vessels phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cardiac malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiac malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Extracranial arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Extracranial arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Brain malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Brain malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Venous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Venous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary intraosseous venous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary intraosseous venous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-syndromic renal or urinary tract malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-syndromic renal or urinary tract malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Anorectal malformation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Anorectal malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Congenital heart malformation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Congenital heart malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Biliary Cirrhosis, Primary, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Biliary Cirrhosis, Primary, 2 from the curated CTD Gene-Disease Associations dataset. |
Liver Cirrhosis, Biliary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Liver Cirrhosis, Biliary from the curated CTD Gene-Disease Associations dataset. |
Biliary Cirrhosis, Primary, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Biliary Cirrhosis, Primary, 3 from the curated CTD Gene-Disease Associations dataset. |
Liver Cirrhosis, Biliary Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Liver Cirrhosis, Biliary in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
biliary tract disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease biliary tract disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
primary biliary cirrhosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease primary biliary cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
biliary tract disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease biliary tract disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
biliary tract cancer Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease biliary tract cancer in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
biliary dyskinesia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease biliary dyskinesia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
biliary papillomatosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease biliary papillomatosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
primary biliary cirrhosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease primary biliary cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
biliary tract cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease biliary tract cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
biliary tract neoplasm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease biliary tract neoplasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
intrahepatic biliary papillomatosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease intrahepatic biliary papillomatosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
biliary tract disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease biliary tract disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
primary biliary cirrhosis] Gene SetFrom GAD Gene-Disease Associations genes associated with the disease primary biliary cirrhosis] in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, primary biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, primary biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary calculi; gallstones; gilbert disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary calculi; gallstones; gilbert disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary; liver disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary; liver disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
primary biliary cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease primary biliary cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholelithiasis; biliary duct stone Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholelithiasis; biliary duct stone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary calculi; gallstones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary calculi; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary; cholangitis, sclerosing Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary; cholangitis, sclerosing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune diseases; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary tract neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary tract neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis, biliary; pruritus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis, biliary; pruritus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary calculi; cholecystolithiasis; gallstones; lipid metabolism disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary calculi; cholecystolithiasis; gallstones; lipid metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary tract neoplasms; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary tract neoplasms; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pancreaticobiliary maljunction-associated biliary tract tumors Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pancreaticobiliary maljunction-associated biliary tract tumors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary calculi; gallstones; stomach neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary calculi; gallstones; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary; hepatitis type 1, autoimmune (aih-1) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary; hepatitis type 1, autoimmune (aih-1) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary calculi; cholelithiasis; gallstones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary calculi; cholelithiasis; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary tract diseases; ischemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary tract diseases; ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary tract neoplasms; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary tract neoplasms; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholangitis, sclerosing; fatty liver; hepatitis b, chronic; hepatitis c, chronic; hepatitis, autoimmune; hepatitis, chronic; liver cirrhosis, alcoholic; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholangitis, sclerosing; fatty liver; hepatitis b, chronic; hepatitis c, chronic; hepatitis, autoimmune; hepatitis, chronic; liver cirrhosis, alcoholic; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary calculi; carcinoma; gallbladder neoplasm; gallbladder neoplasms; gallstones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary calculi; carcinoma; gallbladder neoplasm; gallbladder neoplasms; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary tract neoplasms; carcinoma, hepatocellular; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary tract neoplasms; carcinoma, hepatocellular; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary tract cancer; gallstones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary tract cancer; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
osteoporosis; cirrhosis, primary biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease osteoporosis; cirrhosis, primary biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bile duct neoplasms; biliary calculi; gallstones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bile duct neoplasms; biliary calculi; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary; hepatitis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary; hepatitis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary; diabetes, gestational Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary; diabetes, gestational in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary calculi; diseases in twins; gallstones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary calculi; diseases in twins; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary tract neoplasms; gallstones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary tract neoplasms; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term biliary in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Primary biliary cirrhosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Primary biliary cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
primary biliary cirrhosis Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease primary biliary cirrhosis in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
biliary tract disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease biliary tract disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
biliary tract cancer Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease biliary tract cancer in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
abnormality of the biliary system Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of the biliary system phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormal biliary tract morphology Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormal biliary tract morphology phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
biliary cirrhosis Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the biliary cirrhosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
biliary tract abnormality Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the biliary tract abnormality phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
biliary tract neoplasm Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the biliary tract neoplasm phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
biliary tract abnormality Gene SetFrom HPO Gene-Disease Associations genes associated with the biliary tract abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal biliary tract morphology Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal biliary tract morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
biliary tract neoplasm Gene SetFrom HPO Gene-Disease Associations genes associated with the biliary tract neoplasm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal biliary tract physiology Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal biliary tract physiology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the biliary system Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the biliary system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intrahepatic biliary dysgenesis Gene SetFrom HPO Gene-Disease Associations genes associated with the intrahepatic biliary dysgenesis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
biliary cirrhosis Gene SetFrom HPO Gene-Disease Associations genes associated with the biliary cirrhosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Biliary Tract Neoplasms Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Biliary Tract Neoplasms phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Liver Cirrhosis, Biliary Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Liver Cirrhosis, Biliary phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Biliary Tract Diseases Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Biliary Tract Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
biliary cyst Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the biliary cyst phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal biliary tract morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal biliary tract morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
liver/biliary system phenotype Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the liver/biliary system phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
biliary cirrhosis Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the biliary cirrhosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
{biliary cirrhosis, primary, 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {biliary cirrhosis, primary, 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
biliary cirrhosis, primary, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the biliary cirrhosis, primary, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
biliary cirrhosis, primary, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the biliary cirrhosis, primary, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{biliary cirrhosis, primary, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {biliary cirrhosis, primary, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
biliary epithelium Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue biliary epithelium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
biliary epithelial cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue biliary epithelial cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Primary Biliary Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Biliary Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Liver And Intrahepatic Biliary Tract Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Liver And Intrahepatic Biliary Tract Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Cholangiocarcinoma Of Intrahepatic Biliary Tract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Cholangiocarcinoma Of Intrahepatic Biliary Tract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Cirrhosis, Primary, 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Cirrhosis, Primary, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Intraepithelial Neoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Intraepithelial Neoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Tract Cancer Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Tract Cancer in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Secondary Biliary Cholangitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Secondary Biliary Cholangitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Obstruction Of Biliary Tree Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Obstruction Of Biliary Tree in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Papillomatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Papillomatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Hamartoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Hamartoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cyst Of Biliary Tract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cyst Of Biliary Tract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Tract Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Tract Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary System Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary System Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Stricture Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Stricture in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Tract Neoplasm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Tract Neoplasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Biliary Hamartomas Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Biliary Hamartomas in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Adenoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Adenoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Hyperplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Hyperplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Sludge Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Sludge in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Malignant Biliary Obstruction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Malignant Biliary Obstruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Postoperative Biliary Stricture Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Postoperative Biliary Stricture in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Recurrent Biliary Tract Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Recurrent Biliary Tract Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Acute Pancreatitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Acute Pancreatitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pancreatitis Biliary Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pancreatitis Biliary in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Calculi Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Biliary Calculi in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Biliary Tract Abnormality Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Biliary Tract Abnormality in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Biliary Tract Morphology Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Biliary Tract Morphology in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intrahepatic Biliary Dysgenesis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intrahepatic Biliary Dysgenesis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
biliary cirrhosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the biliary cirrhosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal biliary tract morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal biliary tract morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
biliary cyst Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the biliary cyst phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal biliary ductule morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal biliary ductule morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Biliary epithelial cell_Intestine_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Biliary epithelial cell_Intestine_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Biliary cell_Liver_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Biliary cell_Liver_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Biliary cell_Bile duct_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Biliary cell_Bile duct_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Biliary epithelial cell_Liver_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Biliary epithelial cell_Liver_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Biliary cell_Liver_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Biliary cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Disorders of bile acid synthesis and biliary transport Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Disorders of bile acid synthesis and biliary transport pathway from the WikiPathways Pathways 2024 dataset. |
Biliary tract disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Biliary tract disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Biliary tract cancer Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Biliary tract cancer from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Biliary tract disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Biliary tract disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary biliary cholangitis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Primary biliary cholangitis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Biliary tract cancer Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Biliary tract cancer in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Biliary tract cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Biliary tract cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Biliary tract disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Biliary tract disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary biliary cholangitis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary biliary cholangitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Biliary dyskinesia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Biliary dyskinesia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary biliary cholangitis 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary biliary cholangitis 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary biliary cholangitis 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary biliary cholangitis 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary biliary cholangitis 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary biliary cholangitis 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Biliary tract benign neoplasm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Biliary tract benign neoplasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary biliary cholangitis 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary biliary cholangitis 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Biliary papillomatosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Biliary papillomatosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary biliary cholangitis 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary biliary cholangitis 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intrahepatic biliary papillomatosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intrahepatic biliary papillomatosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Biliary epithelium Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Biliary epithelium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Biliary epithelial cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Biliary epithelial cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Biliary tract abnormality Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Biliary tract abnormality phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Biliary Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Biliary phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary biliary cholangitis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Primary biliary cholangitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Primary biliary cirrhosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Primary biliary cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Lynch syndrome:Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome 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. |
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome:Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IFAP syndrome with or without BRESHECK syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset. |
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset. |
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic 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. |
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome 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. |
cornelia de lange syndrome; de lange syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
behcet syndrome; uveomeningoencephalitic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
melas syndrome; merrf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angelman syndrome; rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
metabolic syndrome ; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease metabolic syndrome ; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; ehlers-danlos syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; felty's syndrome; large granular lymphocyte syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart-hand syndrome, holt-oram syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
digeorge syndrome/velocardiofacial syndrome complex-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ifap syndrome with or without bresheck syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 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. |
Branchiootic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 3, with hypocalciuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 3, with hypocalciuria 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. |
Multiple synostoses syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sjögren-Larsson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hennekam lymphangiectasia-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UV-sensitive syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy 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. |
Short rib-polydactyly syndrome, Majewski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Char syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fragile X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Shwachman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greig cephalopolysyndactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Fraser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Needles syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiootorenal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PTEN hamartoma tumor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lesch-Nyhan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculofaciocardiodental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow Sorauf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
17q2131 microdeletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly/autism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mohr-Tranebjaerg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopenic nonfracture syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Barakat syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Raine syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digitorenocerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digitorenocerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alstrom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinism-hyperammonemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal multiple pterygium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MORM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Upshaw-Schulman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Martsolf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1D 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. |
Usher syndrome, type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 2q32-q33 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Blepharophimosis-ptosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Borrone Di Rocco Crovato syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hurler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angelman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lig4 syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rubinstein-Taybi syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hajdu-Cheney syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperferritinemia cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy preaxial brachydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bannayan-Riley-Ruvalcaba syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chudley-McCullough syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poretti-boltshauser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bosch-boonstra-schaaf optic atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frank Ter Haar syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Androgen resistance syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoparathyroidism retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoparathyroidism retardation dysmorphism syndrome 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. |
Holt-Oram syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Young Simpson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frasier syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meier-Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pili torti-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome, type A2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane-radial ray syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 19 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. |
22q133 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa-corneal clouding-oligophrenia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome 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. |
Bardet-Biedl syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TNF receptor-associated periodic fever syndrome (TRAPS) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Steel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Steel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 1q43-q44 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Roberts-SC phocomelia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bloom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McLeod neuroacanthocytosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nicolaides-Baraitser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nager syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chédiak-Higashi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kindler's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnevale syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kenny syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kenny syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rienhoff syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2A 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. |
Weaver syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia/short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Siderius X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kohlschutter's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kohlschutter's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with marfanoid habitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebro-oculo-facio-skeletal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEOPARD syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Treacher collins syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wiskott-Aldrich syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyper-IgE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tourette Syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, macrosomia, facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamstorp-Wohlfart syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyaline fibromatosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyaline fibromatosis syndrome 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. |
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weill-Marchesani-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Netherton syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 4b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Feingold syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Feingold syndrome 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. |
Waardenburg syndrome type 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 4B 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. |
Usher syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Richieri Costa Pereira syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune lymphoproliferative syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, fast-channel Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wilson-Turner X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Costello syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ochoa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Achalasia-alacrima syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cryptophthalmos syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nijmegen breakage syndrome-like disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ovarian hyperstimulation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otofaciocervical syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kaufman oculocerebrofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiooculofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Karak syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky Pudlak syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tarsal carpal coalition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jankovic Rivera syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nakajo syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome Xq28 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi-Bickel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
short QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Smith-Lemli-Opitz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome progeroid type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Larsen syndrome, dominant type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birk Barel mental retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, X-linked recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, X-linked recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenomatous polyposis coli:Gardner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenomatous polyposis coli:Gardner syndrome 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. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leprechaunism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Simpson-Golabi-Behmel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Simpson-Golabi-Behmel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
XFE progeroid syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dysequilibrium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dysequilibrium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Johanson-Blizzard syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GRACILE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GRACILE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked lymphoproliferative syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 1 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. |
Kowarski syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ADULT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel-Gruber syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked lymphoproliferative syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neutrophil immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coffin-Lowry syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, hydroxylysine-deficient Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pierson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pfeiffer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tricho-dento-osseous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mowat-Wilson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jensen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Werner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aarskog syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enamel-renal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Popliteal pterygium syndrome lethal type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Keutel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Segawa syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple pterygium syndrome Escobar type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins-like syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins-like syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital short bowel syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Klippel-Feil syndrome 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stiff skin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lenz microphthalmia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lenz microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall/Stickler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall/Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schwartz Jampel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Grebe syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, slow-channel congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Floating-Harbor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Floating-Harbor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osler hemorrhagic telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osler hemorrhagic telangiectasia syndrome 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. |
Wieacker syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki make-up syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cohen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oligodontia-colorectal cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Filippi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Filippi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contractural syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primrose syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall-Smith syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brittle cornea syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rotor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oral-facial-digital syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oral-facial-digital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrocallosal syndrome, Schinzel type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gray platelet syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mast syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meacham syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stormorken syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Opitz-Frias syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Opitz-Frias syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardio-facio-cutaneous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Yunis Varon syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cowden syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mulibrey nanism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mulibrey nanism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ohdo syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ohdo syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, idiopathic, steroid-resistant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes-Brocks-branchiootorenal-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes-Brocks-branchiootorenal-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SeSAME syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Odontotrichomelic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Odontotrichomelic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrioventricular septal defect, partial, with heterotaxy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome, type 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile liver failure syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile liver failure syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lowe syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lowe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 7B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rett syndrome, congenital variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van Maldergem syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bone marrow failure syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bone marrow failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distichiasis-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-Laxova syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Winchester syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Unverricht-Lundborg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Verheij syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Verheij syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rapp-Hodgkin ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Allan-Herndon-Dudley syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Advanced sleep phase syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arterial tortuosity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Papillon-Lefèvre syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Papillon-Lefèvre syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brown-vialetto-van laere syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brown-vialetto-van laere syndrome 2 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. |
Peters plus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulnar-mammary syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulnar-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-dependent diabetes mellitus secretory diarrhea syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beckwith-Wiedemann syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Beckwith-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van Maldergem Wetzburger Verloes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem Wetzburger Verloes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sotos' syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyggve-Melchior-Clausen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dyggve-Melchior-Clausen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Baraitser-Winter Syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Baraitser-Winter Syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Three M syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Three M syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Howel-Evans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Howel-Evans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with tubular aggregates 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 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. |
Rhabdoid tumor predisposition syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rhabdoid tumor predisposition syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Finnish congenital nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tatton-Brown-rahman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |