| Name |
|---|
DDC Genedopa decarboxylase (aromatic L-amino acid decarboxylase) The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011] |
DYT7 Genedystonia 7, torsion (autosomal dominant) |
DYT2 Genedystonia 2, torsion (autosomal recessive) |
DYT21 Genedystonia 21, torsion (autosomal dominant) |
EPRPDC GeneEpilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp |
DYT15 Genedystonia 15, myoclonic |
DYT17 Genedystonia 17 |
DYT13 Genedystonia 13, torsion |
OS4 GeneOsteoarthritis, generalized, without dysplasia, susceptibility to |
TNFRSF10C Genetumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008] |
CTEPH1 GenePulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to |
MGR3 GeneMigraine, familial, with or without aura, susceptibility to |
MGR5 GeneMigraine with or without aura, susceptibility to, 5 |
LILRA3 Geneleukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014] |
RIT2 GeneRas-like without CAAX 2 RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008] |
RIT1 GeneRas-like without CAAX 1 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] |
HTGH GeneHypertrichosis terminalis, generalized, with or without gingival hyperplasia |
RPH3AL Generabphilin 3A-like (without C2 domains) The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010] |
ANOP1 Geneanophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) |
MGR12 GeneMigraine, with or without aura, susceptibility to, 12 |
dystonia, dopa-responsive, with or without hyperphenylalaninemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, with or without hyperphenylalaninemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
Hyperphenylalaninemia, bh4-deficient, d Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, d phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D from the curated CTD Gene-Disease Associations dataset. |
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C from the curated CTD Gene-Disease Associations dataset. |
Hyperphenylalaninemia, BH4-Deficient, B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperphenylalaninemia, BH4-Deficient, B from the curated CTD Gene-Disease Associations dataset. |
hyperphenylalaninemia Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term hyperphenylalaninemia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
maternal hyperphenylalaninemia Gene SetFrom HPO Gene-Disease Associations genes associated with the maternal hyperphenylalaninemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hyperphenylalaninemia Gene SetFrom HPO Gene-Disease Associations genes associated with the hyperphenylalaninemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
transient hyperphenylalaninemia Gene SetFrom HPO Gene-Disease Associations genes associated with the transient hyperphenylalaninemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
[hyperphenylalaninemia, non-pku mild] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [hyperphenylalaninemia, non-pku mild] phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphenylalaninemia, bh4-deficient, d Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphenylalaninemia, bh4-deficient, d phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphenylalaninemia, bh4-deficient, a Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphenylalaninemia, bh4-deficient, a phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphenylalaninemia, bh4-deficient, b Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphenylalaninemia, bh4-deficient, b phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphenylalaninemia, bh4-deficient, c Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphenylalaninemia, bh4-deficient, c phenotype from the curated OMIM Gene-Disease Associations dataset. |
Hyperphenylalaninemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyperphenylalaninemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Hyperphenylalaninemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Hyperphenylalaninemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atypical Hyperphenylalaninemia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Atypical Hyperphenylalaninemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Maternal Hyperphenylalaninemia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Maternal Hyperphenylalaninemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
BH4-deficient hyperphenylalaninemia A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease BH4-deficient hyperphenylalaninemia A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
BH4-deficient hyperphenylalaninemia B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease BH4-deficient hyperphenylalaninemia B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperphenylalaninemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mild hyperphenylalaninemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mild hyperphenylalaninemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
BH4-Deficient Hyperphenylalaninemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the BH4-Deficient Hyperphenylalaninemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperphenylalaninemia due to DNAJC12 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
DOPA melanin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical DOPA melanin from the curated CTD Gene-Chemical Interactions dataset. |
3-O-methyl-DOPA Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 3-O-methyl-DOPA from the curated CTD Gene-Chemical Interactions dataset. |
L-DOPA Gene Setinteracting proteins for the L-DOPA drug from the curated DrugBank Drug Targets dataset. |
dopa Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term dopa in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
regulation of l-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of l-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of l-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of l-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of l-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of l-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of l-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of l-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
l-dopa decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-dopa decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-dopa receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-dopa receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-dopa binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-dopa binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-dopa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-dopa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
DL-Dopa Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the DL-Dopa metabolite from the curated HMDB Metabolites of Enzymes dataset. |
L-Dopa Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the L-Dopa metabolite from the curated HMDB Metabolites of Enzymes dataset. |
L-dopa degradation Gene SetFrom HumanCyc Pathways proteins participating in the L-dopa degradation pathway from the HumanCyc Pathways dataset. |
positive regulation of L-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of L-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of L-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of L-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of L-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of L-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of L-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of L-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
L-dopa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-dopa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-DOPA receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-DOPA receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-dopa decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-dopa decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
DOPA Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for DOPA metabolite from the MW Gene Metabolite Associations dataset. |
positive regulation of L-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of L-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of L-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of L-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-dopa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-dopa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-DOPA receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-DOPA receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-dopa decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-dopa decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant torsion dystonia 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant torsion dystonia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myoclonic dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myoclonic dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile-onset dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile-onset dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 25 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 6, torsion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 6, torsion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 3, torsion, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 3, torsion, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile Parkinsonism-dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Parkinsonism-Dystonia, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parkinsonism-Dystonia, Infantile from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset. |
Dystonia musculorum deformans type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia musculorum deformans type 2 from the curated CTD Gene-Disease Associations dataset. |
Dystonia 13, Torsion Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 13, Torsion from the curated CTD Gene-Disease Associations dataset. |
Dystonia musculorum deformans type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia musculorum deformans type 1 from the curated CTD Gene-Disease Associations dataset. |
Torsion dystonia 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Torsion dystonia 7 from the curated CTD Gene-Disease Associations dataset. |
Dystonia 17, Torsion, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 17, Torsion, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Dystonia 15, myoclonic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 15, myoclonic from the curated CTD Gene-Disease Associations dataset. |
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY from the curated CTD Gene-Disease Associations dataset. |
Dystonia 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 12 from the curated CTD Gene-Disease Associations dataset. |
Myoclonic dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myoclonic dystonia from the curated CTD Gene-Disease Associations dataset. |
Familial paroxysmal dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial paroxysmal dystonia from the curated CTD Gene-Disease Associations dataset. |
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset. |
Juvenile-onset dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Juvenile-onset dystonia from the curated CTD Gene-Disease Associations dataset. |
Dystonia 3, Torsion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 3, Torsion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Dystonia 6, torsion Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 6, torsion from the curated CTD Gene-Disease Associations dataset. |
Cervical Dystonia, Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cervical Dystonia, Primary from the curated CTD Gene-Disease Associations dataset. |
Dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia from the curated CTD Gene-Disease Associations dataset. |
generalized dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease generalized dystonia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease dystonia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
deafness dystonia syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease deafness dystonia syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
dystonia Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease dystonia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cranio-facial dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cranio-facial dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
focal dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease focal dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
generalized dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease generalized dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
deafness dystonia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease deafness dystonia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
dystonia, primary torsion Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, primary torsion in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
complex regional pain syndromes; dystonia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease complex regional pain syndromes; dystonia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myoclonus dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myoclonus dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
idiopathic torsion dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease idiopathic torsion dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, primary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, primary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome deletion; dystonia; myoclonus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome deletion; dystonia; myoclonus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cervical dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cervical dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, cervical Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, cervical in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, focal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, focal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blepharospasm; dystonia; dystonic disorders; torticollis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blepharospasm; dystonia; dystonic disorders; torticollis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, early onset primary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, early onset primary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
akathisia, drug-induced; dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease akathisia, drug-induced; dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia; psychomotor disorders; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia; psychomotor disorders; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
focal dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease focal dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term dystonia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Musician's dystonia Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Musician's dystonia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
craniofacial dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the craniofacial dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the limb dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
axial dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the axial dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
oromandibular dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the oromandibular dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
paroxysmal dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the paroxysmal dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
laryngeal dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the laryngeal dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
torsion dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the torsion dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
focal dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the focal dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Dystonia Musculorum Deformans Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Dystonia Musculorum Deformans phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Dystonia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Dystonia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
dystonia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the dystonia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
dystonia 6, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 6, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-17, primary torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-17, primary torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-parkinsonism, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-parkinsonism, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 4, torsion, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 4, torsion, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 13, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 13, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, primary cervical Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, primary cervical phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, dystonia, and cerebral hypomyelination Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, dystonia, and cerebral hypomyelination phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-1, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-1, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
{dystonia-1, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {dystonia-1, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
parkinsonism-dystonia, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the parkinsonism-dystonia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-7, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-7, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-11, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-11, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, juvenile-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, juvenile-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-15, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-15, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypermanganesemia with dystonia, polycythemia, and cirrhosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypermanganesemia with dystonia, polycythemia, and cirrhosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy with dystonia and motor neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with dystonia and motor neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, early-onset atypical, with myoclonic features Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, early-onset atypical, with myoclonic features phenotype from the curated OMIM Gene-Disease Associations dataset. |
Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile-Onset Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile-Onset Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Onset Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Onset Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Musician'S Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Musician'S Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Segmental Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Segmental Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Isolated Cervical Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Isolated Cervical Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fragments Of Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fragments Of Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Non-Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Non-Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cervical Dystonia, Primary Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cervical Dystonia, Primary in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngeal Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngeal Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniofacial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniofacial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Leber Optic Atrophy And Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Leber Optic Atrophy And Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acquired Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acquired Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Myoclonic Epilepsy With Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Myoclonic Epilepsy With Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cervical Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cervical Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Oromandibular Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Oromandibular Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lingual Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lingual Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Axial Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Axial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acute Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acute Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Leg Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Leg Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Other Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Other Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
dystonia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the dystonia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 Gene Setproteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 pathway from the Reactome Pathways 2024 dataset. |
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 Gene Setproteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 pathway from the Reactome Pathways 2024 dataset. |
Dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Focal dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Focal dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked dystonia-parkinsonism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked dystonia-parkinsonism from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Torsion dystonia 6 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Torsion dystonia 6 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Generalized dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Generalized dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Dystonia 12 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Dystonia 12 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Dystonia 16 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Dystonia 16 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Multifocal dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Multifocal dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
deafness-dystonia-optic neuronopathy syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease deafness-dystonia-optic neuronopathy syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hypermanganesemia with dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Leber hereditary optic neuropathy and dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Leber hereditary optic neuropathy and dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Focal dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Focal dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
deafness-dystonia-optic neuronopathy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease deafness-dystonia-optic neuronopathy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Focal hand dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Focal hand dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multifocal dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multifocal dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Oromandibular dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oromandibular dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Segmental dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Segmental dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile parkinsonism-dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile parkinsonism-dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 16 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spasmodic dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spasmodic dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypermanganesemia with dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypermanganesemia with dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cervical dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cervical dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked dystonia-parkinsonism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked dystonia-parkinsonism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Generalized dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Generalized dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 28, childhood-onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 28, childhood-onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease childhood-onset dystonia with optic atrophy and basal ganglia abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia 26 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 27 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 27 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 31 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 31 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 30 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypermanganesemia with dystonia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 23 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
deafness, dystonia, and cerebral hypomyelination Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease deafness, dystonia, and cerebral hypomyelination in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 35, childhood-onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 35, childhood-onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cranio-facial dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cranio-facial dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 32 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 32 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 25 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 25 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 24 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 24 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Torsion dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Paroxysmal dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Paroxysmal dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset generalized limb-onset dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset generalized limb-onset dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonic dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonic dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Developmental malformations-deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental malformations-deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Parkinsonism-dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neurodegenerative illness progressing to crippling dystonia and death Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurodegenerative illness progressing to crippling dystonia and death phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Generalized dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Generalized dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonus-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonus-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked dystonia-parkinsonism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked dystonia-parkinsonism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Deafness dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deafness dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TSPOAP1-related Dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TSPOAP1-related Dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Musician's dystonia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Musician's dystonia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 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. |
Bronchiectasis with or without elevated sweat chloride 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bronchiectasis with or without elevated sweat chloride 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Woolly hair, autosomal recessive 2, with or without hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Woolly hair, autosomal recessive 2, with or without hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial septal defect 7 with or without atrioventricular conduction defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 12 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 12 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy, cystic, without megalencephaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy, cystic, without megalencephaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cognitive impairment with or without cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cognitive impairment with or without cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 19 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 19 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 17 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 17 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 4, with or without renal failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bronchiectasis with or without elevated sweat chloride 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bronchiectasis with or without elevated sweat chloride 2 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. |
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. |
Deafness, without vestibular involvement, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, without vestibular involvement, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testicular anomalies with or without congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations 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. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrodysostosis 2, with or without hormone resistance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrodysostosis 2, with or without hormone resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 13 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 13 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation, with or without seizures, ARX-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation, with or without seizures, ARX-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 10 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 10 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adult i Blood Group with or without Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adult i Blood Group with or without Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Focal epilepsy with speech disorder with or without mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 11 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 11 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 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. |
Short-rib thoracic dysplasia 3 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 26 with or without neurologic abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 26 with or without neurologic abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Goiter, multinodular 1, with or without sertoli-leydig cell tumors Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Goiter, multinodular 1, with or without sertoli-leydig cell tumors phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
H2AX complex, isolated from cells without IR exposure Gene Setproteins in the H2AX complex, isolated from cells without IR exposure protein complex from the CORUM Protein Complexes dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT from the curated CTD Gene-Disease Associations dataset. |
Leukoencephalopathy, Cystic, Without Megalencephaly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy, Cystic, Without Megalencephaly from the curated CTD Gene-Disease Associations dataset. |
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset. |
Migraine without Aura Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Migraine without Aura from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS from the curated CTD Gene-Disease Associations dataset. |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 1 from the curated CTD Gene-Disease Associations dataset. |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 2 from the curated CTD Gene-Disease Associations dataset. |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 3 from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency without anhidrotic ectodermal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency without anhidrotic ectodermal dysplasia from the curated CTD Gene-Disease Associations dataset. |
HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE from the curated CTD Gene-Disease Associations dataset. |
Bifid Nose With Or Without Anorectal And Renal Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset. |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE from the curated CTD Gene-Disease Associations dataset. |
Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset. |
Metaphyseal Dysplasia without Hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metaphyseal Dysplasia without Hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related from the curated CTD Gene-Disease Associations dataset. |
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset. |
PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO from the curated CTD Gene-Disease Associations dataset. |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset. |
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA from the curated CTD Gene-Disease Associations dataset. |
Nonmedullary thyroid carcinoma, with or without cell oxyphilia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nonmedullary thyroid carcinoma, with or without cell oxyphilia from the curated CTD Gene-Disease Associations dataset. |
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY from the curated CTD Gene-Disease Associations dataset. |
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia from the curated CTD Gene-Disease Associations dataset. |
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset. |
Migraine without Aura Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Migraine without Aura in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
migraine without aura Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease migraine without aura in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cleft lip with cleft palate; cleft lip without cleft palate; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
salmeterol with or without fluticasone propionate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease salmeterol with or without fluticasone propionate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine disorders; migraine with aura; migraine without aura; tension-type headache Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine disorders; migraine with aura; migraine without aura; tension-type headache in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with or without cleft palate; cleft palate, isolated Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with or without cleft palate; cleft palate, isolated in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with cleft palate; cleft lip without cleft palate; cleft lip Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate; cleft lip in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colorectal cancer; tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colorectal cancer; tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine with aura; migraine without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine with aura; migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nonsyndromic cleft lipor without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nonsyndromic cleft lipor without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine with and without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine with and without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip without cleft palate; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip without cleft palate; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine disorders; migraine with aura; migraine without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine disorders; migraine with aura; migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital anomalies; cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies; cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nonsyndromic cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nonsyndromic cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
without Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term without in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
cell cycle comprising mitosis without cytokinesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cell cycle comprising mitosis without cytokinesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
Migraine without aura Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Migraine without aura phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
migraine without aura Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease migraine without aura in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
migraine without aura Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the migraine without aura phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
focal seizures without impairment of consciousness or awareness Gene SetFrom HPO Gene-Disease Associations genes associated with the focal seizures without impairment of consciousness or awareness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
migraine without aura Gene SetFrom HPO Gene-Disease Associations genes associated with the migraine without aura phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Migraine without Aura Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Migraine without Aura phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
epilepsy, progressive myoclonic 3, with or without intracellular inclusions Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 3, with or without intracellular inclusions phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypogonadotropic hypogonadism 15 with or without anosmia} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypogonadotropic hypogonadism 15 with or without anosmia} phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
brain small vessel disease with or without ocular anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the brain small vessel disease with or without ocular anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
paragangliomas 1, with or without deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the paragangliomas 1, with or without deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal dysplasia without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 4 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
central hypoventilation syndrome, congenital, with or without hirschsprung disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the central hypoventilation syndrome, congenital, with or without hirschsprung disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 14 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 14 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 2e, with or without neurologic involvement Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 2e, with or without neurologic involvement phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
cognitive impairment with or without cerebellar ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the cognitive impairment with or without cerebellar ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 6 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 6 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 10 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 10 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 3 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 3 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine without aura, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine without aura, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 8 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 8 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukemia, megakaryoblastic, with or without down syndrome, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukemia, megakaryoblastic, with or without down syndrome, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
antley-bixler syndrome without genital anomalies or disordered steroidogenesis Gene SetFrom OMIM Gene-Disease Associations genes associated with the antley-bixler syndrome without genital anomalies or disordered steroidogenesis phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 5 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 5 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 7 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 7 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microtia with or without hearing impairment (ad) Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microtia with or without hearing impairment (ad) phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, x-linked, with/without neutropenia and/or platelet abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, x-linked, with/without neutropenia and/or platelet abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 11 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 11 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 18 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 18 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
{bronchiectasis with or without elevated sweat chloride 1, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {bronchiectasis with or without elevated sweat chloride 1, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine, with or without aura, susceptibility to, 12} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine, with or without aura, susceptibility to, 12} phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
?testicular anomalies with or without congenital heart disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?testicular anomalies with or without congenital heart disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Gene SetFrom OMIM Gene-Disease Associations genes associated with the dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 2 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 2 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
bronchiectasis with or without elevated sweat chloride 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bronchiectasis with or without elevated sweat chloride 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bronchiectasis with or without elevated sweat chloride 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bronchiectasis with or without elevated sweat chloride 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bronchiectasis with or without elevated sweat chloride 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bronchiectasis with or without elevated sweat chloride 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis Gene SetFrom OMIM Gene-Disease Associations genes associated with the foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset. |
acrodysostosis 1, with or without hormone resistance Gene SetFrom OMIM Gene-Disease Associations genes associated with the acrodysostosis 1, with or without hormone resistance phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 20 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 20 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hypogonadotropic hypogonadism 13 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hypogonadotropic hypogonadism 13 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary hypertension, familial primary, 1, with or without hht Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary hypertension, familial primary, 1, with or without hht phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
woolly hair, autosomal recessive 1, with or without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 1, with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 4 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 4 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
dementia, frontotemporal, with or without parkinsonism Gene SetFrom OMIM Gene-Disease Associations genes associated with the dementia, frontotemporal, with or without parkinsonism phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 9 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 9 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 9 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Gene SetFrom OMIM Gene-Disease Associations genes associated with the ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine without aura, susceptibility to, 4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine without aura, susceptibility to, 4} phenotype from the curated OMIM Gene-Disease Associations dataset. |
left ventricular noncompaction 1, with or without congenital heart defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the left ventricular noncompaction 1, with or without congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
tooth agenesis, selective, 1, with or without orofacial cleft Gene SetFrom OMIM Gene-Disease Associations genes associated with the tooth agenesis, selective, 1, with or without orofacial cleft phenotype from the curated OMIM Gene-Disease Associations dataset. |
{pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hypogonadotropic hypogonadism 12 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hypogonadotropic hypogonadism 12 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 6 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 6 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 9, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 9, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
cataract, pulverulent or cerulean, with or without microcornea Gene SetFrom OMIM Gene-Disease Associations genes associated with the cataract, pulverulent or cerulean, with or without microcornea phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombocytopenia, x-linked, with or without dyserythropoietic anemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombocytopenia, x-linked, with or without dyserythropoietic anemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
gastric cancer, familial diffuse, with or without cleft lip and/or palate Gene SetFrom OMIM Gene-Disease Associations genes associated with the gastric cancer, familial diffuse, with or without cleft lip and/or palate phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 3 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinitis pigmentosa with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 4, with or without renal failure Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 7, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 7, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
gyrate atrophy of choroid and retina with or without ornithinemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the gyrate atrophy of choroid and retina with or without ornithinemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 19 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 19 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine with or without aura, susceptibility to, 5} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine with or without aura, susceptibility to, 5} phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, with or without nystagmus Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, with or without nystagmus phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, neurosensory, without vestibular involvement, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, neurosensory, without vestibular involvement, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 14, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset. |
adult i phenotype without cataract Gene SetFrom OMIM Gene-Disease Associations genes associated with the adult i phenotype without cataract phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy, cystic, without megalencephaly Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy, cystic, without megalencephaly phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine with or without aura, susceptibility to, 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine with or without aura, susceptibility to, 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 8 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 8 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
branchiootorenal syndrome 1, with or without cataracts Gene SetFrom OMIM Gene-Disease Associations genes associated with the branchiootorenal syndrome 1, with or without cataracts phenotype from the curated OMIM Gene-Disease Associations dataset. |
mcleod syndrome with or without chronic granulomatous disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the mcleod syndrome with or without chronic granulomatous disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine with or without aura, susceptibility to, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine with or without aura, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 1, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 1, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine, with or without aura, susceptibility to, 13} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine, with or without aura, susceptibility to, 13} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypogonadotropic hypogonadism 16 with or without anosmia} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypogonadotropic hypogonadism 16 with or without anosmia} phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 7, with or without av conduction defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
bifid nose with or without anorectal and renal anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the bifid nose with or without anorectal and renal anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
androgen insensitivity, partial, with or without breast cancer Gene SetFrom OMIM Gene-Disease Associations genes associated with the androgen insensitivity, partial, with or without breast cancer phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 17 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 17 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, focal, with speech disorder and with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, focal, with speech disorder and with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, progressive, with or without lipodystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, progressive, with or without lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 2 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 2 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
woolly hair, autosomal recessive 2 with or without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 2 with or without hypotrichosis 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. |
hypertrichosis terminalis, generalized, with or without gingival hyperplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypertrichosis terminalis, generalized, with or without gingival hyperplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 16, with or without neurologic abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 16, with or without neurologic abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 5 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 5 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
migraine with or without aura, susceptibility to Gene SetFrom OMIM Gene-Disease Associations genes associated with the migraine with or without aura, susceptibility to phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 3, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 3, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
acrodysostosis 2, with or without hormone resistance Gene SetFrom OMIM Gene-Disease Associations genes associated with the acrodysostosis 2, with or without hormone resistance phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperproinsulinemia, familial, with or without diabetes Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperproinsulinemia, familial, with or without diabetes phenotype from the curated OMIM Gene-Disease Associations dataset. |
left ventricular noncompaction 3, with or without dilated cardiomyopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the left ventricular noncompaction 3, with or without dilated cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 7 without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 7 without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
anterior segment anomalies with or without cataract Gene SetFrom OMIM Gene-Disease Associations genes associated with the anterior segment anomalies with or without cataract phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
sweat chloride elevation without cf Gene SetFrom OMIM Gene-Disease Associations genes associated with the sweat chloride elevation without cf phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 15, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cardiac conduction disease with or without dilated cardiomyopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cardiac conduction disease with or without dilated cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 10, with or without ftd Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 10, with or without ftd phenotype from the curated OMIM Gene-Disease Associations dataset. |
goiter, multinodular 1, with or without sertoli-leydig cell tumors Gene SetFrom OMIM Gene-Disease Associations genes associated with the goiter, multinodular 1, with or without sertoli-leydig cell tumors phenotype from the curated OMIM Gene-Disease Associations dataset. |
Progressive Cone Dystrophy (Without Rod Involvement) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cone Dystrophy (Without Rod Involvement) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cleft Lip With Or Without Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cleft Lip With Or Without Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonmedullary Thyroid Carcinoma, With Or Without Cell Oxyphilia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonmedullary Thyroid Carcinoma, With Or Without Cell Oxyphilia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Respiratory Failure Without Hypercapnia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Respiratory Failure Without Hypercapnia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dentinogenesis Imperfecta Without Osteogenesis Imperfecta in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyposis Of Gastric Fundus Without Polyposis Coli Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyposis Of Gastric Fundus Without Polyposis Coli 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. |
2P21 Microdeletion Syndrome Without Cystinuria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 2P21 Microdeletion Syndrome Without Cystinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chagas' Disease Without Mention Of Organ Involvement Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chagas' Disease Without Mention Of Organ Involvement in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dengue Without Warning Signs Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dengue Without Warning Signs in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult Acute Myeloid Leukemia Without Maturation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult Acute Myeloid Leukemia Without Maturation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sweat Chloride Elevation Without Cystic Fibrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sweat Chloride Elevation Without Cystic Fibrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Cholecystitis Without Calculus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Cholecystitis Without Calculus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anterior Segment Anomalies With Or Without Cataract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anterior Segment Anomalies With Or Without Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vacterl Association, X-Linked, With Or Without Hydrocephalus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vacterl Association, X-Linked, With Or Without Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Panic Disorder Without Agoraphobia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Panic Disorder Without Agoraphobia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bpes Without Ovarian Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bpes Without Ovarian Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fetal Malnutrition Without Mention Of Light-For-Dates Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fetal Malnutrition Without Mention Of Light-For-Dates in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Testicular Anomalies With Or Without Congenital Heart Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Testicular Anomalies With Or Without Congenital Heart Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Narcolepsy Without Cataplexy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Narcolepsy Without Cataplexy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microtia With Or Without Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microtia With Or Without Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microtia Without Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microtia Without Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Hypothyroidism Without Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Hypothyroidism Without Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duane Retraction Syndrome 3 With Or Without Deafness Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duane Retraction Syndrome 3 With Or Without Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brain Malformations With Or Without Urinary Tract Defects Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Malformations With Or Without Urinary Tract Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay in GWAS and other genetic association datasets from the DisGeNET 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. |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cognitive Impairment With Or Without Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cognitive Impairment With Or Without Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonsyndromic Cleft Lip With Or Without Cleft Palate Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nonsyndromic Cleft Lip With Or Without Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Genetic Hyperferritinemia Without Iron Overload Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Genetic Hyperferritinemia Without Iron Overload in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
cell cycle comprising mitosis without cytokinesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cell cycle comprising mitosis without cytokinesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
cell cycle comprising mitosis without cytokinesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cell cycle comprising mitosis without cytokinesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease short-rib thoracic dysplasia 9 with or without polydactyly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 22 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 22 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 6 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 6 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 9 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 12 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 12 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Migraine without aura Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Migraine without aura in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 2 with or without cortical malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 2 with or without cortical malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 15 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 15 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 6 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 6 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Acute myeloid leukemia without maturation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Acute myeloid leukemia without maturation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 4 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 4 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked cleft palate with or without ankyloglossia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked cleft palate with or without ankyloglossia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental delay and seizures with or without movement abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental delay and seizures with or without movement abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 10 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 23 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 23 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 2 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 2 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 14 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 14 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial progressive hyperpigmentation with or without hypopigmentation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial progressive hyperpigmentation with or without hypopigmentation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 18 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 18 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 3 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 3 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 5 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 5 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 7 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 7 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 8 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 8 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 11 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 13 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 13 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 7 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 7 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 16 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 16 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 24 without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 24 without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Antley-Bixler syndrome without disordered steroidogenesis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Antley-Bixler syndrome without disordered steroidogenesis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Restless legs syndrome in migraine without aura Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Restless legs syndrome in migraine without aura phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Migraine without aura Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Migraine without aura phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Nonsyndromic cleft lip with or without cleft palate Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nonsyndromic cleft lip with or without cleft palate phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate x maternal periconceptional alcohol use interaction (parent of origin effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate x maternal periconceptional alcohol use interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Acute anterior uveitis (with or without ankylosing spondylitis) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acute anterior uveitis (with or without ankylosing spondylitis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pulmonary arterial hypertension (without BMPR2 mutations) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pulmonary arterial hypertension (without BMPR2 mutations) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bicuspid aortic valve without aortic dilation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bicuspid aortic valve without aortic dilation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (non-Lofgren's syndrome without extrapulmonary manifestations) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (non-Lofgren's syndrome without extrapulmonary manifestations) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Spontaneous preterm birth without premature rupture of membranes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Spontaneous preterm birth without premature rupture of membranes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |