| Name |
|---|
OS4 GeneOsteoarthritis, generalized, without dysplasia, susceptibility to |
LKMCD GeneLeukoencephalopathy with metaphyseal chondrodysplasia |
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 |
BHD GeneBeukes familial hip dysplasia |
ASDP Geneanal sphincter dysplasia |
ECTD5 GeneEctodermal dysplasia 5, hair/nail type |
ECTD7 GeneEctodermal dysplasia 7, hair/nail type |
ECTD6 GeneEctodermal dysplasia 6, hair/nail type |
ACD Geneadrenocortical dysplasia homolog (mouse) This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008] |
SPDT GeneSpondyloepiphyseal dysplasia tarda, autosomal dominant |
ACTD GeneAcetabular dysplasia |
ARVD4 Genearrhythmogenic right ventricular dysplasia 4 |
ARVD6 Genearrhythmogenic right ventricular dysplasia 6 |
ARVD3 Genearrhythmogenic right ventricular dysplasia 3 |
MMEDF GeneMacrocephaly with multiple epiphyseal dysplasia and distinctive facies |
DDH2 GeneDevelopmental dysplasia of the hip 2 |
ECTD8 GeneEctodermal dysplasia 8, hair/tooth/nail type |
NDIC GeneNail dysplasia, isolated congenital |
EDSS2 GeneEctodermal dysplasia-syndactyly syndrome 2 |
PRD Geneprimary retinal dysplasia |
ACRPV GeneAcropectorovertebral dysplasia (F syndrome) |
ATD Geneasphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) |
ODPF GeneOsseous dysplasia, digital, with facial pigmentary defects and multiple frenula |
MRSD Genemental retardation-skeletal dysplasia |
TKCR Genetorticollis, keloids, cryptorchidism and renal dysplasia |
MMDK GeneMesomelic dysplasia, Kantaputra type |
OTDD GeneOtodental dysplasia chromosome deletion syndrome |
EEC2 Geneectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 |
EEC1 Geneectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylo-megaepiphyseal-metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondylo-Megaepiphyseal-Metaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
metaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease metaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
metaphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spondylo-megaepiphyseal-metaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
Pyle Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pyle Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteosclerotic Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteosclerotic Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondylo-Megaepiphyseal-Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Metaphyseal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Metaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Metaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Osteosclerotic metaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Osteosclerotic metaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondylo-megaepiphyseal-metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Osteosclerotic metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Osteosclerotic metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyle metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyle metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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. |
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. |
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 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis simplex Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis simplex phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile macular degeneration and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marie Unna hereditary hypotrichosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marie Unna hereditary hypotrichosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis and recurrent skin vesicles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis and recurrent skin vesicles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis 5 from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis with hypotrichosis, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis with hypotrichosis, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Hypotrichosis And Recurrent Skin Vesicles Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis And Recurrent Skin Vesicles from the curated CTD Gene-Disease Associations dataset. |
Hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
HYPOTRICHOSIS 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPOTRICHOSIS 2 from the curated CTD Gene-Disease Associations dataset. |
Hypotrichosis simplex Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis simplex from the curated CTD Gene-Disease Associations dataset. |
Juvenile macular degeneration and hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
Marie Unna congenital hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Marie Unna congenital hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis-Lymphedema-Telangiectasia Syndrome from the curated CTD Gene-Disease Associations dataset. |
hypotrichosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease hypotrichosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
hypotrichosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease hypotrichosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
hypotrichosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hypotrichosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hypotrichosis Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term hypotrichosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
hypotrichosis Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease hypotrichosis in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
hypotrichosis of the scalp Gene SetFrom HPO Gene-Disease Associations genes associated with the hypotrichosis of the scalp phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hypotrichosis Gene SetFrom HPO Gene-Disease Associations genes associated with the hypotrichosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
temporal hypotrichosis Gene SetFrom HPO Gene-Disease Associations genes associated with the temporal hypotrichosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive hypotrichosis Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive hypotrichosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Hypotrichosis Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hypotrichosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hypotrichosis and recurrent skin vesicles Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hypotrichosis and recurrent skin vesicles phenotype from the curated OMIM Gene-Disease Associations dataset. |
erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige Gene SetFrom OMIM Gene-Disease Associations genes associated with the erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis, congenital, with juvenile macular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis, congenital, with juvenile macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hypotrichosis 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hypotrichosis 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Hypotrichosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypotrichosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Total Hypotrichosis, Mari Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Total Hypotrichosis, Mari Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Marie Unna Congenital Hypotrichosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Marie Unna Congenital Hypotrichosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Temporal Hypotrichosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Temporal Hypotrichosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Marie Unna Hereditary Hypotrichosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Marie Unna Hereditary Hypotrichosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Hypotrichosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Hypotrichosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypotrichosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hypotrichosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Hypotrichosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Hypotrichosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hypotrichosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hypotrichosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hypotrichosis 2 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hypotrichosis 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hypotrichosis 6 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hypotrichosis 6 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hypotrichosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Hypotrichosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital hypotrichosis with juvenile macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital hypotrichosis with juvenile macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypotrichosis-lymphedema-telangiectasia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 13 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypotrichosis-lymphedema-telangiectasia-renal defect syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypotrichosis 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypotrichosis simplex Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypotrichosis simplex phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal chondrodysplasia, Jansen type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Metaphyseal chondrodysplasia, Jansen type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy With Metaphyseal Chondrodysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy With Metaphyseal Chondrodysplasia from the curated CTD Gene-Disease Associations dataset. |
Metaphyseal chondrodysplasia Schmid type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metaphyseal chondrodysplasia Schmid type from the curated CTD Gene-Disease Associations dataset. |
Jansen type metaphyseal chondrodysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Jansen type metaphyseal chondrodysplasia from the curated CTD Gene-Disease Associations dataset. |
Metaphyseal Anadysplasia 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metaphyseal Anadysplasia 2 from the curated CTD Gene-Disease Associations dataset. |
jansen's metaphyseal chondrodysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease jansen's metaphyseal chondrodysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
schmid metaphyseal chondrodysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease schmid metaphyseal chondrodysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
metaphyseal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term metaphyseal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
metaphyseal sclerosis Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the metaphyseal sclerosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
metaphyseal cupping of metacarpals Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal cupping of metacarpals phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper limb metaphyseal widening Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb metaphyseal widening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal sclerosis Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal sclerosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal chondrodysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal chondrodysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal dappling Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal dappling phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal cupping Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal cupping phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal spurs Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal spurs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
distal femoral metaphyseal abnormality Gene SetFrom HPO Gene-Disease Associations genes associated with the distal femoral metaphyseal abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal rarefaction Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal rarefaction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
streaky metaphyseal sclerosis Gene SetFrom HPO Gene-Disease Associations genes associated with the streaky metaphyseal sclerosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
proximal femoral metaphyseal abnormality Gene SetFrom HPO Gene-Disease Associations genes associated with the proximal femoral metaphyseal abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal cupping of proximal phalanges Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal cupping of proximal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absent primary metaphyseal spongiosa Gene SetFrom HPO Gene-Disease Associations genes associated with the absent primary metaphyseal spongiosa phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
proximal femoral metaphyseal irregularity Gene SetFrom HPO Gene-Disease Associations genes associated with the proximal femoral metaphyseal irregularity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal irregularity Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal irregularity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower-limb metaphyseal irregularity Gene SetFrom HPO Gene-Disease Associations genes associated with the lower-limb metaphyseal irregularity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal widening Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal widening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal metaphyseal trabeculation Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal metaphyseal trabeculation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal metaphyseal vascular invasion Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal metaphyseal vascular invasion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dense metaphyseal bands Gene SetFrom HPO Gene-Disease Associations genes associated with the dense metaphyseal bands phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal chondrodysplasia, schmid type Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal chondrodysplasia, schmid type phenotype from the curated OMIM Gene-Disease Associations dataset. |
brachyolmia 4 with mild epiphyseal and metaphyseal changes Gene SetFrom OMIM Gene-Disease Associations genes associated with the brachyolmia 4 with mild epiphyseal and metaphyseal changes phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal anadysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal anadysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal anadysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal anadysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal chondrodysplasia, murk jansen type Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal chondrodysplasia, murk jansen type phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy with metaphyseal chondrodysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with metaphyseal chondrodysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
Metaphyseal Chondrodysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Chondrodysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Proximal Femoral Metaphyseal Abnormality Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Proximal Femoral Metaphyseal Abnormality in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Enchondromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Enchondromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Radial Metaphyseal Irregularity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Radial Metaphyseal Irregularity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ulnar Metaphyseal Irregularity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ulnar Metaphyseal Irregularity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Chondrodysplasia With Retinitis Pigmentosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Chondrodysplasia With Retinitis Pigmentosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Enchondromatosis With D-2-Hydroxyglutaric Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Enchondromatosis With D-2-Hydroxyglutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Anadysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Anadysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Anadysplasia 1, Autosomal Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Anadysplasia 1, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Jansen Type Metaphyseal Chondrodysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Jansen Type Metaphyseal Chondrodysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Widening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Widening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Irregularity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Irregularity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Sclerosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Cupping Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Cupping in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Spurs Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Spurs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Proximal Femoral Metaphyseal Irregularity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Proximal Femoral Metaphyseal Irregularity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Cupping Of Metacarpals Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Cupping Of Metacarpals in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Cupping Of Proximal Phalanges Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Cupping Of Proximal Phalanges in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Dappling Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Dappling in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Streaky Metaphyseal Sclerosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Streaky Metaphyseal Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Metaphyseal Trabeculation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Metaphyseal Trabeculation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Rarefaction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Rarefaction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metaphyseal Striations Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metaphyseal Striations in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Dense Metaphyseal Bands Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dense Metaphyseal Bands in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Metaphyseal Vascular Invasion Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Metaphyseal Vascular Invasion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absent Primary Metaphyseal Spongiosa Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absent Primary Metaphyseal Spongiosa in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Schmid metaphyseal chondrodysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Schmid metaphyseal chondrodysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Jansen's metaphyseal chondrodysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Jansen's metaphyseal chondrodysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Metaphyseal anadysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal anadysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal chondrodysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal chondrodysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal chondromatosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal chondromatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome phenotype from the curated ClinVar Gene-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. |
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. |
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
?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. |
?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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Frontometaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontometaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Czech dysplasia metatarsal type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Czech dysplasia metatarsal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal dysplasia, multiple, 3, with myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloperipheral dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloperipheral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wolcott-Rallison dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wolcott-Rallison dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniodiaphyseal dysplasia, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypohidrotic X-linked ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypohidrotic X-linked ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive pseudorheumatoid dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive pseudorheumatoid dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteoglophonic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteoglophonic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gracile bone dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gracile bone dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frontonasal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylometaphyseal dysplasia, Kozlowski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylometaphyseal dysplasia, Kozlowski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Odontoonychodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Odontoonychodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia with multiple dislocations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia with multiple dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal-hepatic-pancreatic dysplasia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal-hepatic-pancreatic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acampomelic campomelic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acampomelic campomelic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia/short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia, Missouri type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia, Missouri type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypohidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofrontonasal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofrontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anhidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia, kimberley type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia, kimberley type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiac valvular dysplasia, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiac valvular dysplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trichorhinophalangeal dysplasia type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trichorhinophalangeal dysplasia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diastrophic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diastrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thanatophoric dysplasia type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thanatophoric dysplasia type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cleidocranial dysplasia, forme fruste, with brachydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cleidocranial dysplasia, forme fruste, with brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniometaphyseal dysplasia, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniometaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schneckenbecken dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schneckenbecken dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acromicric dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acromicric dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Terminal osseous dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Terminal osseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitreoretinopathy with phalangeal epiphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acromesomelic dysplasia Maroteaux type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acromesomelic dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rapp-Hodgkin ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schimke immunoosseous dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schimke immunoosseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrocapitofemoral dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrocapitofemoral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hay-Wells syndrome of ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculodentodigital dysplasia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculodentodigital dysplasia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia with congenital joint dislocations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greenberg dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greenberg dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Boomerang dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Boomerang dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniolenticulosutural dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniolenticulosutural dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculodentodigital dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculodentodigital dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois dysplasia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bent bone dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylometaphyseal dysplasia with cone-rod dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chondroectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chondroectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ischiopatellar dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ischiopatellar dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Geleophysic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Geleophysic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Geleophysic dysplasia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Geleophysic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia, Aggrecan type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia, Aggrecan type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alveolar capillary dysplasia with misalignment of pulmonary veins Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brachyrachia (short spine dysplasia) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brachyrachia (short spine dysplasia) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia-focal epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia Strudwick type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia Strudwick type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Septo-optic dysplasia sequence Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Septo-optic dysplasia sequence phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia Maroteaux type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cranioectodermal dysplasia 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cranioectodermal dysplasia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cranioectodermal dysplasia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cranioectodermal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cranioectodermal dysplasia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cranioectodermal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cranioectodermal dysplasia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cranioectodermal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrous dysplasia of jaw Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrous dysplasia of jaw phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Smith McCort dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Smith McCort dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia congenita Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia congenita phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple epiphyseal dysplasia 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple epiphyseal dysplasia 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple epiphyseal dysplasia 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple epiphyseal dysplasia 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple epiphyseal dysplasia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple epiphyseal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia skin fragility syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia skin fragility syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia, pakistani type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia, pakistani type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kniest dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kniest dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otospondylomegaepiphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otospondylomegaepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylometaepiphyseal dysplasia short limb-hand type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylometaepiphyseal dysplasia short limb-hand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia-syndactyly syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Metatrophic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Metatrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frontonasal dysplasia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontonasal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frontonasal dysplasia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontonasal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hidrotic ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyssegmental dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dyssegmental dysplasia from the curated CTD Gene-Disease Associations dataset. |
Frontometaphyseal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Frontometaphyseal dysplasia from the curated CTD Gene-Disease Associations dataset. |
DEVELOPMENTAL DYSPLASIA OF THE HIP 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEVELOPMENTAL DYSPLASIA OF THE HIP 1 from the curated CTD Gene-Disease Associations dataset. |
GNATHODIAPHYSEAL DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GNATHODIAPHYSEAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia 3, Anhidrotic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia 3, Anhidrotic from the curated CTD Gene-Disease Associations dataset. |
Acrocapitofemoral Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acrocapitofemoral Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Thanatophoric dysplasia, type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thanatophoric dysplasia, type 2 from the curated CTD Gene-Disease Associations dataset. |
Cardiac valvular dysplasia, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiac valvular dysplasia, X-linked from the curated CTD Gene-Disease Associations dataset. |
GREENBERG DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GREENBERG DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
Craniolenticulosutural Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniolenticulosutural Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Mandibuloacral dysplasia with type B lipodystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mandibuloacral dysplasia with type B lipodystrophy from the curated CTD Gene-Disease Associations dataset. |
CRANIOECTODERMAL DYSPLASIA 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CRANIOECTODERMAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset. |
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset. |
Focal cortical dysplasia of Taylor Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Focal cortical dysplasia of Taylor from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset. |
Multicystic renal dysplasia, bilateral Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multicystic renal dysplasia, bilateral from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset. |
Cranioectodermal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cranioectodermal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
TERMINAL OSSEOUS DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TERMINAL OSSEOUS DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
Thanatophoric Dysplasia, Type I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thanatophoric Dysplasia, Type I from the curated CTD Gene-Disease Associations dataset. |
Acromicric dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acromicric dysplasia from the curated CTD Gene-Disease Associations dataset. |
Langer mesomelic dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Langer mesomelic dysplasia from the curated CTD Gene-Disease Associations dataset. |
Cleidocranial Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cleidocranial Dysplasia from the curated CTD Gene-Disease Associations dataset. |
FRONTONASAL DYSPLASIA 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FRONTONASAL DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset. |
FRONTONASAL DYSPLASIA 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FRONTONASAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Bronchopulmonary Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchopulmonary Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Spondyloepiphyseal Dysplasia Tarda, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepiphyseal Dysplasia Tarda, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Polyostotic osteolytic dysplasia, hereditary expansile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polyostotic osteolytic dysplasia, hereditary expansile from the curated CTD Gene-Disease Associations dataset. |
FRONTONASAL DYSPLASIA 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FRONTONASAL DYSPLASIA 3 from the curated CTD Gene-Disease Associations dataset. |
Schimke immunoosseous dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Schimke immunoosseous dysplasia from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE from the curated CTD Gene-Disease Associations dataset. |
Craniofrontonasal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniofrontonasal dysplasia from the curated CTD Gene-Disease Associations dataset. |
Oculodentodigital Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Oculodentodigital Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Anal sphincter dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anal sphincter dysplasia from the curated CTD Gene-Disease Associations dataset. |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Platyspondylic Lethal Skeletal Dysplasia, Torrance Type from the curated CTD Gene-Disease Associations dataset. |
Anauxetic dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anauxetic dysplasia from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset. |
Hypopituitarism and septooptic 'dysplasia' Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset. |
Odontoonychodermal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Odontoonychodermal dysplasia from the curated CTD Gene-Disease Associations dataset. |
Spondylometaphyseal dysplasia, Kozlowski type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondylometaphyseal dysplasia, Kozlowski type from the curated CTD Gene-Disease Associations dataset. |
Cortical Dysplasia-Focal Epilepsy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cortical Dysplasia-Focal Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOPERIPHERAL DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOPERIPHERAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset. |
Spondyloepiphyseal Dysplasia, Kimberley Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepiphyseal Dysplasia, Kimberley Type from the curated CTD Gene-Disease Associations dataset. |
Craniometaphyseal Dysplasia, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Schneckenbecken dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Schneckenbecken dysplasia from the curated CTD Gene-Disease Associations dataset. |
Thanatophoric Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thanatophoric Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia/ skin fragility syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia/ skin fragility syndrome from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Ghosal Hematodiaphyseal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ghosal Hematodiaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Smith-McCort Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Smith-McCort Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Diastrophic dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diastrophic dysplasia from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 from the curated CTD Gene-Disease Associations dataset. |
Fibrous Dysplasia, Polyostotic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrous Dysplasia, Polyostotic from the curated CTD Gene-Disease Associations dataset. |
RETINAL DYSPLASIA, PRIMARY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease RETINAL DYSPLASIA, PRIMARY from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE from the curated CTD Gene-Disease Associations dataset. |
Fibrous Dysplasia of Bone Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrous Dysplasia of Bone from the curated CTD Gene-Disease Associations dataset. |
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
Boomerang dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Boomerang dysplasia from the curated CTD Gene-Disease Associations dataset. |
Pelviscapular dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pelviscapular dysplasia from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 from the curated CTD Gene-Disease Associations dataset. |
GELEOPHYSIC DYSPLASIA 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GELEOPHYSIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset. |
Torticollis keloids cryptorchidism renal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Torticollis keloids cryptorchidism renal dysplasia from the curated CTD Gene-Disease Associations dataset. |
Campomelic Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Campomelic Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Alveolar capillary dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alveolar capillary dysplasia from the curated CTD Gene-Disease Associations dataset. |
Ischiopatellar dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ischiopatellar dysplasia from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 from the curated CTD Gene-Disease Associations dataset. |
ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Renal hepatic pancreatic dysplasia Dandy Walker cyst Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal hepatic pancreatic dysplasia Dandy Walker cyst from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Nail dysplasia, isolated congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset. |
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 from the curated CTD Gene-Disease Associations dataset. |
DENTIN DYSPLASIA, TYPE II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DENTIN DYSPLASIA, TYPE II from the curated CTD Gene-Disease Associations dataset. |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 from the curated CTD Gene-Disease Associations dataset. |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type from the curated CTD Gene-Disease Associations dataset. |
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset. |
Mandibuloacral dysplasia with type A lipodystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mandibuloacral dysplasia with type A lipodystrophy from the curated CTD Gene-Disease Associations dataset. |
Oculodentodigital Dysplasia, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Spondyloepimetaphyseal Dysplasia, Missouri Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Missouri Type from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset. |
Acromesomelic dysplasia, Maroteaux type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acromesomelic dysplasia, Maroteaux type from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia 1, Anhidrotic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia 1, Anhidrotic from the curated CTD Gene-Disease Associations dataset. |
ACROPECTOROVERTEBRAL DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ACROPECTOROVERTEBRAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
Spondyloepiphyseal dysplasia, congenita Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepiphyseal dysplasia, congenita from the curated CTD Gene-Disease Associations dataset. |
Spondyloepimetaphyseal Dysplasia, Pakistani Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Pakistani Type from the curated CTD Gene-Disease Associations dataset. |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Aggrecan Type from the curated CTD Gene-Disease Associations dataset. |
Parietal Foramina With Cleidocranial Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parietal Foramina With Cleidocranial Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Eiken Skeletal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Eiken Skeletal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Kniest dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Kniest dysplasia from the curated CTD Gene-Disease Associations dataset. |
Frontonasal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Frontonasal dysplasia from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal dysplasia, multiple, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 1 from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal dysplasia, multiple, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 3 from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal dysplasia, multiple, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 2 from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal dysplasia, multiple, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 5 from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal dysplasia, multiple, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 4 from the curated CTD Gene-Disease Associations dataset. |
Hip Dysplasia, Beukes Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hip Dysplasia, Beukes Type from the curated CTD Gene-Disease Associations dataset. |
craniometaphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease craniometaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease spondyloepimetaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
thanatophoric dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease thanatophoric dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
campomelic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease campomelic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
otospondylomegaepiphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease otospondylomegaepiphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
kniest dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease kniest dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
sost-related sclerosing bone dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease sost-related sclerosing bone dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
boomerang dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease boomerang dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cleidocranial dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cleidocranial dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
spondyloepiphyseal dysplasia congenita Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease spondyloepiphyseal dysplasia congenita from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia, strudwick type Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease spondyloepimetaphyseal dysplasia, strudwick type from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
diastrophic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease diastrophic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
hypohidrotic ectodermal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease hypohidrotic ectodermal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
multiple epiphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease multiple epiphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
thanatophoric dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease thanatophoric dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia, strudwick type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spondyloepimetaphyseal dysplasia, strudwick type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
dentin dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dentin dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia, missouri type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spondyloepimetaphyseal dysplasia, missouri type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spondyloepiphyseal dysplasia congenita Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spondyloepiphyseal dysplasia congenita in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia, sponastrime type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spondyloepimetaphyseal dysplasia, sponastrime type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
multiple epiphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease multiple epiphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
acromesomelic dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease acromesomelic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
anauxetic dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease anauxetic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
craniometaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease craniometaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
sost-related sclerosing bone dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sost-related sclerosing bone dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cleidocranial dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cleidocranial dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign mammary dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign mammary dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
acromesomelic dysplasia, maroteaux type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease acromesomelic dysplasia, maroteaux type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
schneckenbecken dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease schneckenbecken dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
otospondylomegaepiphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease otospondylomegaepiphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
craniodiaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease craniodiaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
diastrophic dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease diastrophic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
thymic dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease thymic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hypohidrotic ectodermal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hypohidrotic ectodermal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
campomelic dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease campomelic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spondyloepimetaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
kniest dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease kniest dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
boomerang dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease boomerang dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
acrocapitofemoral dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease acrocapitofemoral dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fibrous dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fibrous dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple epiphyseal dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple epiphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; infant, newborn, diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; infant, newborn, diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fibromuscular dysplasia; hypertension; renal artery obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fibromuscular dysplasia; hypertension; renal artery obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thanatophoric dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thanatophoric dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
intestinal neuronal dysplasia type b (ind b) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease intestinal neuronal dysplasia type b (ind b) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; respiratory distress syndrome, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; tachycardia, ventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; tachycardia, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; heart failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple epiphyseal dysplasia; pseudoachondroplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple epiphyseal dysplasia; pseudoachondroplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular cardiomyopathy/dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular cardiomyopathy/dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; cardiomyopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; cardiomyopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; syncope Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease isolated congenital pituitary hypoplasia and septo-optic dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
osteoarthritis; hip dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease osteoarthritis; hip dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fibrous dysplasia of bone; osteitis fibrosa disseminata; osteosarcoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fibrous dysplasia of bone; osteitis fibrosa disseminata; osteosarcoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pseudoachondroplasia and multiple epiphyseal dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pseudoachondroplasia and multiple epiphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
strudwick variant of spondyloepimetaphyseal dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease strudwick variant of spondyloepimetaphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple oesophageal dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple oesophageal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
risk of cervical dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease risk of cervical dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; death, sudden, cardiac; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; death, sudden, cardiac; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hpv-associated cervical dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hpv-associated cervical dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; chorioamnionitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; chorioamnionitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleidocranial dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleidocranial dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; ectodermal dysplasia; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; ectodermal dysplasia; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fibrous dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fibrous dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dysplasia Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term dysplasia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Bronchopulmonary dysplasia Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Bronchopulmonary dysplasia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
nail dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the nail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
retinal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the retinal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multiple epiphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the multiple epiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
acetabular dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the acetabular dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
skeletal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the skeletal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hip dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the hip dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chorioretinal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the chorioretinal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
fibrous dysplasia of the bones Gene SetFrom HPO Gene-Disease Associations genes associated with the fibrous dysplasia of the bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
frontoparietal cortical dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the frontoparietal cortical dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lethal skeletal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the lethal skeletal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cortical dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the cortical dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
brainstem dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the brainstem dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spondylometaphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the spondylometaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
polyostotic fibrous dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the polyostotic fibrous dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cystic renal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the cystic renal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
fingernail dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the fingernail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
epiphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the epiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ectodermal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
optic nerve dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the optic nerve dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multicystic kidney dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the multicystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hypohidrotic ectodermal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the hypohidrotic ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
polycystic kidney dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the polycystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cerebellar dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the cerebellar dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hair-nail ectodermal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the hair-nail ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
toenail dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the toenail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
renal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the renal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
diaphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the diaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
septo-optic dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the septo-optic dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dysplasia of the femoral head Gene SetFrom HPO Gene-Disease Associations genes associated with the dysplasia of the femoral head phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Septo-Optic Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Septo-Optic Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Bronchopulmonary Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Bronchopulmonary Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Ectodermal Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ectodermal Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Thanatophoric Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Thanatophoric Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Fibromuscular Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fibromuscular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Fibrous Dysplasia, Polyostotic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fibrous Dysplasia, Polyostotic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Fibrous Dysplasia of Bone Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fibrous Dysplasia of Bone phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Cleidocranial Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Cleidocranial Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Uterine Cervical Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Uterine Cervical Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Arrhythmogenic Right Ventricular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Adrenocortical dysplasia protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Adrenocortical dysplasia protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
?corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
?epiphyseal dysplasia, multiple, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?epiphyseal dysplasia, multiple, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloperipheral dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloperipheral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
acampomelic campomelic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the acampomelic campomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
frontometaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the frontometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
campomelic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the campomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
developmental dysplasia of the hip 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the developmental dysplasia of the hip 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
smith-mccort dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the smith-mccort dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
parietal foramina with cleidocranial dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the parietal foramina with cleidocranial dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniometaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal-hepatic-pancreatic dysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal-hepatic-pancreatic dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 6, hair/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 6, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia/short stature syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia/short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofacial-skeletal-dermatologic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofacial-skeletal-dermatologic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
focal cortical dysplasia, taylor balloon cell type Gene SetFrom OMIM Gene-Disease Associations genes associated with the focal cortical dysplasia, taylor balloon cell type phenotype from the curated OMIM Gene-Disease Associations dataset. |
thanatophoric dysplasia, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the thanatophoric dysplasia, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
mandibuloacral dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mandibuloacral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia, ectrodactyly, and macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
diastrophic dysplasia, broad bone-platyspondylic variant Gene SetFrom OMIM Gene-Disease Associations genes associated with the diastrophic dysplasia, broad bone-platyspondylic variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
cleft lip/palate-ectodermal dysplasia syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the cleft lip/palate-ectodermal dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
otospondylomegaepiphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the otospondylomegaepiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
boomerang dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the boomerang dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
frontonasal dysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the frontonasal dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
frontonasal dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the frontonasal dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniolenticulosutural dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniolenticulosutural dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cranioectodermal dysplasia 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cranioectodermal dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cranioectodermal dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cranioectodermal dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cranioectodermal dysplasia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cranioectodermal dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cranioectodermal dysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cranioectodermal dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 3, witkop type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 3, witkop type phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylometaepiphyseal dysplasia, short limb-hand type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylometaepiphyseal dysplasia, short limb-hand type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 7, hair/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 7, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
oculodentodigital dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the oculodentodigital dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
greenberg skeletal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the greenberg skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
acromesomelic dysplasia, maroteaux type Gene SetFrom OMIM Gene-Disease Associations genes associated with the acromesomelic dysplasia, maroteaux type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 5, hair/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 5, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
smith-mccort dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the smith-mccort dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniodiaphyseal dysplasia, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, with myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
septooptic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the septooptic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
acromesomelic dysplasia, hunter-thompson type Gene SetFrom OMIM Gene-Disease Associations genes associated with the acromesomelic dysplasia, hunter-thompson type phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia, missouri type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia, missouri type phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
macrocephaly with multiple epiphyseal dysplasia and distinctive facies Gene SetFrom OMIM Gene-Disease Associations genes associated with the macrocephaly with multiple epiphyseal dysplasia and distinctive facies phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia tarda Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia tarda phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 1, hypohidrotic, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 1, hypohidrotic, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
diastrophic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the diastrophic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
platyspondylic skeletal dysplasia, torrance type Gene SetFrom OMIM Gene-Disease Associations genes associated with the platyspondylic skeletal dysplasia, torrance type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia-syndactyly syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
schneckenbecken dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the schneckenbecken dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
dentin dysplasia, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the dentin dysplasia, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
de la chapelle dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the de la chapelle dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia-focal epilepsy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia-focal epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniometaphyseal dysplasia, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniometaphyseal dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 4, hair/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 4, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
alveolar capillary dysplasia with misalignment of pulmonary veins Gene SetFrom OMIM Gene-Disease Associations genes associated with the alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated OMIM Gene-Disease Associations dataset. |
kniest dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the kniest dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
otodental dysplasia chromsome deletion syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the otodental dysplasia chromsome deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, with myopia and deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, with myopia and deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
acrocapitofemoral dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the acrocapitofemoral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylometaphyseal dysplasia with cone-rod dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia tarda with progressive arthropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia tarda with progressive arthropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofrontonasal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofrontonasal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
{renal dysplasia, cystic, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {renal dysplasia, cystic, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
langer mesomelic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the langer mesomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
vitreoretinopathy with phalangeal epiphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
bent bone dysplasia syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the bent bone dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
acromicric dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the acromicric dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
acropectorovertebral dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the acropectorovertebral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
dentin dysplasia, type i, with microdontia and misshapen teeth Gene SetFrom OMIM Gene-Disease Associations genes associated with the dentin dysplasia, type i, with microdontia and misshapen teeth phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylometaphyseal dysplasia, kozlowski type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylometaphyseal dysplasia, kozlowski type phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypoparathyroidism, sensorineural deafness, and renal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoparathyroidism, sensorineural deafness, and renal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation-skeletal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation-skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
desbuquois dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the desbuquois dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
anauxetic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the anauxetic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 9, hair/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 9, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
cleidocranial dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the cleidocranial dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia/skin fragility syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia/skin fragility syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
gnathodiaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the gnathodiaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
focal facial dermal dysplasia 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the focal facial dermal dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia with joint laxity, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 8, hair/tooth/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 8, hair/tooth/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
schimke immunoosseous dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the schimke immunoosseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia, hypohidrotic, with immune deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia, hypohidrotic, with immune deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia-syndactyly syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia-syndactyly syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia, familial, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mandibuloacral dysplasia with type b lipodystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the mandibuloacral dysplasia with type b lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
terminal osseous dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the terminal osseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
desbuquois dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the desbuquois dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?frontonasal dysplasia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?frontonasal dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiac valvular dysplasia, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiac valvular dysplasia, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
campomelic dysplasia with autosomal sex reversal Gene SetFrom OMIM Gene-Disease Associations genes associated with the campomelic dysplasia with autosomal sex reversal phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
geleophysic dysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the geleophysic dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
geleophysic dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the geleophysic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyssegmental dysplasia, silverman-handmaker type Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyssegmental dysplasia, silverman-handmaker type phenotype from the curated OMIM Gene-Disease Associations dataset. |
gracile bone dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the gracile bone dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
odontoonychodermal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the odontoonychodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hip dysplasia, beukes type Gene SetFrom OMIM Gene-Disease Associations genes associated with the hip dysplasia, beukes type phenotype from the curated OMIM Gene-Disease Associations dataset. |
cleidocranial dysplasia, forme fruste, with brachydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the cleidocranial dysplasia, forme fruste, with brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair phenotype from the curated OMIM Gene-Disease Associations dataset. |
focal facial dermal dysplasia 3, setleis type Gene SetFrom OMIM Gene-Disease Associations genes associated with the focal facial dermal dysplasia 3, setleis type phenotype from the curated OMIM Gene-Disease Associations dataset. |
czech dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the czech dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia, aggrecan type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia, aggrecan type phenotype from the curated OMIM Gene-Disease Associations dataset. |
oculodentodigital dysplasia, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the oculodentodigital dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mesomelic dysplasia, kantaputra type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mesomelic dysplasia, kantaputra type phenotype from the curated OMIM Gene-Disease Associations dataset. |
cleidocranial dysplasia, forme fruste, dental anomalies only Gene SetFrom OMIM Gene-Disease Associations genes associated with the cleidocranial dysplasia, forme fruste, dental anomalies only phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia, kimberley type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia, kimberley type phenotype from the curated OMIM Gene-Disease Associations dataset. |
metatropic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the metatropic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
thanatophoric dysplasia, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the thanatophoric dysplasia, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
?renal-hepatic-pancreatic dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?renal-hepatic-pancreatic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteoglophonic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteoglophonic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia with congenital joint dislocations Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 2, clouston type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 2, clouston type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Gene Setproteins participating in the Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) pathway from the Reactome Pathways dataset. |
Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Gene Setproteins participating in the Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) pathway from the Reactome Pathways dataset. |
Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) Gene Setproteins participating in the Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) pathway from the Reactome Pathways dataset. |
chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC) Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC) from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Congenital Dysplasia Of The Hip Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Dysplasia Of The Hip in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nail Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nail Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alveolar Capillary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alveolar Capillary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Skeletal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Skeletal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ectodermal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ectodermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dysplasia Of Anus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dysplasia Of Anus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Epiphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Epiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondyloepiphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondyloepiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyostotic Fibrous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyostotic Fibrous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arrhythmogenic Right Ventricular Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Campomelic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Campomelic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniometaphyseal Dysplasia, Autosomal Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diastrophic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diastrophic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mild Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mild Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neuronal Intestinal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neuronal Intestinal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thanatophoric Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thanatophoric Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thanatophoric Dysplasia, Type I (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thanatophoric Dysplasia, Type I (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibrous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibrous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Pigmented Nodular Adrenal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Pigmented Nodular Adrenal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Pseudorheumatoid Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Pseudorheumatoid Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cervical Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cervical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibromuscular Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibromuscular Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Smith-Mccort Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Smith-Mccort Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dentin Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dentin Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lethal Skeletal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lethal Skeletal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bone Marrow Myeloid Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bone Marrow Myeloid Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acromicric Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acromicric Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cleidocranial Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cleidocranial Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Geleophysic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Geleophysic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniofacial Fibrous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniofacial Fibrous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hip Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hip Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cortical Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cortical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Esophageal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Esophageal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mesomelic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mesomelic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Cortical Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Cortical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondylometaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondylometaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitral Valve Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitral Valve Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Schimke Immunoosseous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Schimke Immunoosseous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |