| Name |
|---|
SPDT GeneSpondyloepiphyseal dysplasia tarda, autosomal dominant |
NDIC GeneNail dysplasia, isolated congenital |
BHD GeneBeukes familial hip dysplasia |
OS4 GeneOsteoarthritis, generalized, without dysplasia, susceptibility to |
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] |
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 |
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 |
MCOPCT1 Genecataract, congenital, with microphthalmia |
CFTDX GeneMyopathy, congenital, with fiber-type disproportion, X-linked |
NPHS1 Genenephrosis 1, congenital, Finnish type (nephrin) This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] |
CTRCT37 GeneCataract, congenital cerulean type, 5 |
CTRCT34 GeneCataract, autosomal recessive congenital 3 |
CTRCT35 Genecataract, congenital nuclear, autosomal recessive |
BSCL2 GeneBerardinelli-Seip congenital lipodystrophy 2 (seipin) This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024] |
HTC1 Genehypertrichosis 1 (universalis, congenital) |
HTC2 Genehypertrichosis 2 (generalized, congenital) |
RNANC GeneRetinal nonattachment, nonsyndromic congenital |
NHS GeneNance-Horan syndrome (congenital cataracts and dental anomalies) This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014] |
MDC1B GeneMuscular dystrophy, congenital, 1B |
CDAN3 Genecongenital dyserythropoietic anemia, type III |
LCA5L GeneLeber congenital amaurosis 5-like Predicted to be involved in intraciliary transport. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Mar 2025] |
NDNC9 GeneNail disorder, nonsyndromic congenital, 9 |
NYS2 Genenystagmus 2, congenital autosomal dominant |
NYS3 Genenystagmus 3, congenital autosomal dominant |
NYS7 GeneNystagmus 7, congenital |
NYS4 Genenystagmus 4, congenital autosomal dominant |
CTRCT27 GeneCataract, congenital, nuclear progressive |
PTOS2 GenePtosis, hereditary congenital 2 |
PTOS1 Geneptosis, congenital 1 (autosomal dominant) |
GLC3C Geneglaucoma 3, primary congenital, C |
SMAL Genespinal muscular atrophy, congenital nonprogressive, of lower limbs |
ANIC GeneAnosmia, isolated congenital |
CHDT3 GeneCongenital heart defects, multiple types, 3 |
MDCMP Genemuscular dystrophy, congenital, merosin-positive |
CHNG3 GeneHypothyroidism, congenital, nongoitrous, 3 |
LCA5 GeneLeber congenital amaurosis 5 This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009] |
CCA1 Genecataract, congenital, cerulean type, 1 |
CCT Genecataract, congenital, total |
CCV Genecataract, congenital, Volkmann type |
MCOR Genemicrocoria, congenital |
DIH2 GeneHernia, congenital diaphragmatic 2 |
ARCI9 GeneIchthyosis, congenital, autosomal recessive 9 |
ARCI7 GeneIchthyosis, congenital, autosomal recessive 7 |
PAFC GenePreauricular fistulae, congenital |
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. |
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. |
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. |
Spondyloepiphyseal dysplasia with congenital joint dislocations Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spondyloepiphyseal dysplasia with congenital joint dislocations from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia with congenital joint dislocations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia with congenital joint dislocations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
Chondrodysplasia with joint dislocations, GPAPP type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chondrodysplasia with joint dislocations, GPAPP type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
large joint dislocations Gene SetFrom HPO Gene-Disease Associations genes associated with the large joint dislocations phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chondrodysplasia with joint dislocations, grapp type Gene SetFrom OMIM Gene-Disease Associations genes associated with the chondrodysplasia with joint dislocations, grapp type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Multiple Joint Dislocations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Joint Dislocations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Joint Dislocations Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multiple Joint Dislocations in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Chondrodysplasia with joint dislocations gPAPP type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Chondrodysplasia with joint dislocations gPAPP type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple joint dislocations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiple joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Spondyloepiphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spondyloepiphyseal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia tarda Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spondyloepiphyseal dysplasia tarda from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked spondyloepiphyseal dysplasia tarda Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked spondyloepiphyseal dysplasia tarda from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia congenita Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spondyloepiphyseal dysplasia congenita from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia tarda Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia tarda in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked spondyloepiphyseal dysplasia tarda Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked spondyloepiphyseal dysplasia tarda in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia Kimberley type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia Kimberley type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia congenita Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia congenita in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia Maroteaux type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia Maroteaux type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia Nishimura type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia Nishimura type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia Kondo-Fu type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia Kondo-Fu type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive spondyloepiphyseal dysplasia tarda Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive spondyloepiphyseal dysplasia tarda in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant spondyloepiphyseal dysplasia tarda Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant spondyloepiphyseal dysplasia tarda in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spondyloepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spondyloepiphyseal dysplasia tarda Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spondyloepiphyseal dysplasia tarda phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spondyloepiphyseal dysplasia congenita Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spondyloepiphyseal dysplasia congenita phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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. |
alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dislocations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dislocations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dislocations Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term dislocations in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
bilateral elbow dislocations Gene SetFrom HPO Gene-Disease Associations genes associated with the bilateral elbow dislocations phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Bilateral Elbow Dislocations Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bilateral Elbow Dislocations in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype 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. |
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. |
Spondyloepimetaphyseal dysplasia with joint laxity type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepimetaphyseal dysplasia with joint laxity type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepimetaphyseal dysplasia with joint laxity Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepimetaphyseal dysplasia with joint laxity in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepimetaphyseal dysplasia with joint laxity type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepimetaphyseal dysplasia with joint laxity type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepimetaphyseal dysplasia with joint laxity type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepimetaphyseal dysplasia with joint laxity type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hip dislocation, congenital; joint instability Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hip dislocation, congenital; joint instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
spondyloepiphyseal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term spondyloepiphyseal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations 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. |
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. |
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. |
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. |
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. |
Congenital Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Pulmonary Acinar Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Pulmonary Acinar Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hip Dysplasia, Congenital, Nonsyndromic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hip Dysplasia, Congenital, Nonsyndromic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Glenoid Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Glenoid Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Ectodermal Dysplasia Of Face Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Ectodermal Dysplasia Of Face in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Micromelic Dysplasia, Congenital, With Dislocation Of Radius Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Micromelic Dysplasia, Congenital, With Dislocation Of Radius in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Congenital heart defects and ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital heart defects and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
congenital heart defects; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; folic acid deficiency; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; nervous system diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; congenital heart defects; growth disorders; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Heart Defects, Congenital, And Other Congenital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart Defects, Congenital, And Other Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal fragility keratoglobus, blue sclerae AND joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temporomandibular Joint Dysfunction Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Temporomandibular Joint Dysfunction Syndrome from the curated CTD Gene-Disease Associations dataset. |
Temporomandibular Joint Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Temporomandibular Joint Disorders from the curated CTD Gene-Disease Associations dataset. |
Joint Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Joint Diseases from the curated CTD Gene-Disease Associations dataset. |
Joint Instability Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Joint Instability from the curated CTD Gene-Disease Associations dataset. |
Histiocytosis with joint contractures and sensorineural deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Histiocytosis with joint contractures and sensorineural deafness from the curated CTD Gene-Disease Associations dataset. |
gastrointestinal diseases; henoch-schoenlein purpura; joint diseases; kidney diseases; proteinuria; purpura, schoenlein-henoch Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gastrointestinal diseases; henoch-schoenlein purpura; joint diseases; kidney diseases; proteinuria; purpura, schoenlein-henoch in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
degenerative arthropathy ; facial pain; osteoarthritis; temporomandibular joint disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease degenerative arthropathy ; facial pain; osteoarthritis; temporomandibular joint disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; iron overload; joint diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; iron overload; joint diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colitis, ulcerative; crohn disease; eye diseases; inflammatory bowel diseases; joint diseases; liver diseases; skin diseases; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colitis, ulcerative; crohn disease; eye diseases; inflammatory bowel diseases; joint diseases; liver diseases; skin diseases; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; joint diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; joint diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
temporomandibular joint disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease temporomandibular joint disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pain; temporomandibular joint disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pain; temporomandibular joint disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; joint diseases; rheumatic diseases; rheumatism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; joint diseases; rheumatic diseases; rheumatism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
temporomandibular joint pain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease temporomandibular joint pain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; hemochromatosis; joint diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; hemochromatosis; joint diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
degenerative arthropathy ; osteoarthritis; temporomandibular joint disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease degenerative arthropathy ; osteoarthritis; temporomandibular joint disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
joint Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term joint in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
limb joint morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the limb joint morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
embryonic skeletal joint morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the embryonic skeletal joint morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
embryonic skeletal limb joint morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the embryonic skeletal limb joint morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
embryonic skeletal joint development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the embryonic skeletal joint development biological process from the curated GO Biological Process Annotations 2015 dataset. |
Temporomandibular joint disorders Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Temporomandibular joint disorders phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
abnormal joint morphology Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormal joint morphology phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of lower limb joint Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of lower limb joint phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
costochondral joint sclerosis Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the costochondral joint sclerosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of metacarpophalangeal joint Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of metacarpophalangeal joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower extremity joint dislocation Gene SetFrom HPO Gene-Disease Associations genes associated with the lower extremity joint dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the hip joint Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the hip joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
interphalangeal joint contracture of finger Gene SetFrom HPO Gene-Disease Associations genes associated with the interphalangeal joint contracture of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the sacroiliac joint Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the sacroiliac joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint hyperflexibility Gene SetFrom HPO Gene-Disease Associations genes associated with the joint hyperflexibility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limitation of joint mobility Gene SetFrom HPO Gene-Disease Associations genes associated with the limitation of joint mobility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint hemorrhage Gene SetFrom HPO Gene-Disease Associations genes associated with the joint hemorrhage phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of upper limb joint Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of upper limb joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint contracture of the 5th finger Gene SetFrom HPO Gene-Disease Associations genes associated with the joint contracture of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multiple joint contractures Gene SetFrom HPO Gene-Disease Associations genes associated with the multiple joint contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint contractures involving the joints of the feet Gene SetFrom HPO Gene-Disease Associations genes associated with the joint contractures involving the joints of the feet phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint dislocation Gene SetFrom HPO Gene-Disease Associations genes associated with the joint dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
interphalangeal joint erosions Gene SetFrom HPO Gene-Disease Associations genes associated with the interphalangeal joint erosions phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of hand joint mobility Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of hand joint mobility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint swelling Gene SetFrom HPO Gene-Disease Associations genes associated with the joint swelling phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limited mobility of proximal interphalangeal joint Gene SetFrom HPO Gene-Disease Associations genes associated with the limited mobility of proximal interphalangeal joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal joint morphology Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal joint morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint swelling onset late infancy Gene SetFrom HPO Gene-Disease Associations genes associated with the joint swelling onset late infancy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint contracture of the hand Gene SetFrom HPO Gene-Disease Associations genes associated with the joint contracture of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
degenerative joint disease Gene SetFrom HPO Gene-Disease Associations genes associated with the degenerative joint disease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint laxity Gene SetFrom HPO Gene-Disease Associations genes associated with the joint laxity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb joint contracture Gene SetFrom HPO Gene-Disease Associations genes associated with the limb joint contracture phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint stiffness Gene SetFrom HPO Gene-Disease Associations genes associated with the joint stiffness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
joint hypermobility Gene SetFrom HPO Gene-Disease Associations genes associated with the joint hypermobility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
finger joint hypermobility Gene SetFrom HPO Gene-Disease Associations genes associated with the finger joint hypermobility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of lower limb joint Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of lower limb joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of joint mobility Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of joint mobility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
contracture of the proximal interphalangeal joint of the 5th finger Gene SetFrom HPO Gene-Disease Associations genes associated with the contracture of the proximal interphalangeal joint of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the humeroradial joint Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the humeroradial joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
finger joint hyperextensibility Gene SetFrom HPO Gene-Disease Associations genes associated with the finger joint hyperextensibility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized joint laxity Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized joint laxity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metacarpophalangeal joint hyperextensibility Gene SetFrom HPO Gene-Disease Associations genes associated with the metacarpophalangeal joint hyperextensibility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
contractures of the interphalangeal joint of the thumb Gene SetFrom HPO Gene-Disease Associations genes associated with the contractures of the interphalangeal joint of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper extremity joint dislocation Gene SetFrom HPO Gene-Disease Associations genes associated with the upper extremity joint dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Joint Instability Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Joint Instability phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Temporomandibular Joint Disorders Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Temporomandibular Joint Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Joint Diseases Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Joint Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
decreased susceptibility to induced joint inflammation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased susceptibility to induced joint inflammation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal temporomandibular joint morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal temporomandibular joint morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
chronic joint inflammation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the chronic joint inflammation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal joint morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal joint morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
joint swelling Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the joint swelling phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
calcified joint Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the calcified joint phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal joint mobility Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal joint mobility phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
joint inflammation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the joint inflammation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal joint capsule morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal joint capsule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
joint Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue joint from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
temporomandibular joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue temporomandibular joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
hinge joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue hinge joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
femorotibial joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue femorotibial joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
hip joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue hip joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
ankle joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue ankle joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Knee Joint Valgus Deformity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Knee Joint Valgus Deformity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prosthetic Joint Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prosthetic Joint Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inflammatory Joint Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inflammatory Joint Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Joint Contracture Of The 5Th Finger Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Joint Contracture Of The 5Th Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Instability Of Atlantooccipital Joint Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Instability Of Atlantooccipital Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Temporomandibular Joint Dysfunction Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Temporomandibular Joint Dysfunction Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Temporomandibular Joint Osteoarthritis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Temporomandibular Joint Osteoarthritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Facet Joint Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Facet Joint Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Histiocytosis With Joint Contractures And Sensorineural Deafness Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Histiocytosis With Joint Contractures And Sensorineural Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormality Of The Hip Joint Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormality Of The Hip Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Interstitial Lung, Joint, And Kidney Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Interstitial Lung, Joint, And Kidney Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Palmoplantar Keratoderma With Joint Keratoses Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Palmoplantar Keratoderma With Joint Keratoses in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Facet Joint Arthrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Facet Joint Arthrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ankylosis Of The Elbow Joint Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ankylosis Of The Elbow Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormality Of Lower Limb Joint Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormality Of Lower Limb Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Joint Laxity, Short Stature, And Myopia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Joint Laxity, Short Stature, And Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Joint Tuberculosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Joint Tuberculosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Joint Swelling Inflammatory Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Joint Swelling Inflammatory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intermittent Joint Effusion Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intermittent Joint Effusion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Joint Function Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Joint Function Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Interphalangeal Joint Contracture Of Finger Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Interphalangeal Joint Contracture Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Derangement Of Temporomandibular Joint Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Derangement Of Temporomandibular Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rheumatic Joint Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rheumatic Joint Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormality Of The Joint Spaces Of The Elbow Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormality Of The Joint Spaces Of The Elbow in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Joint Hyperflexibility Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Joint Hyperflexibility in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Limitation Of Joint Mobility Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Limitation Of Joint Mobility in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Limb Joint Contracture Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Limb Joint Contracture in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Joint Laxity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Joint Laxity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Knee Joint Laxity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Knee Joint Laxity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hip Joint Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hip Joint Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Joint Stiffness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Joint Stiffness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Flexion Contracture Of Proximal Interphalangeal Joint Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Flexion Contracture Of Proximal Interphalangeal Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hip Joint Varus Deformity - Observation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hip Joint Varus Deformity - Observation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Range Of Joint Movement Increased Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Range Of Joint Movement Increased in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Joint Swelling Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Joint Swelling in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Joint Laxity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Joint Laxity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Joint Tenderness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Joint Tenderness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Finger Joint Hypermobility Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Finger Joint Hypermobility in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Joint Instability Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Joint Instability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Distal Joint Laxity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Distal Joint Laxity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of The Sacroiliac Joint Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of The Sacroiliac Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of The Temporomandibular Joint Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of The Temporomandibular Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Joint Morphology Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Joint Morphology in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Temporomandibular Joint Internal Derangement Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Temporomandibular Joint Internal Derangement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Interphalangeal Joint Erosions Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Interphalangeal Joint Erosions in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lower Extremity Joint Dislocation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lower Extremity Joint Dislocation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of Upper Limb Joint Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of Upper Limb Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of Hand Joint Mobility Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of Hand Joint Mobility in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Limited Mobility Of Proximal Interphalangeal Joint Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Limited Mobility Of Proximal Interphalangeal Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
embryonic skeletal joint development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the embryonic skeletal joint development biological process from the curated GO Biological Process Annotations 2023 dataset. |
embryonic skeletal joint morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the embryonic skeletal joint morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
embryonic skeletal limb joint morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the embryonic skeletal limb joint morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
abnormal sternocostal joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal sternocostal joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal costovertebral joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal costovertebral joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
joint swelling Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the joint swelling phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
calcified joint Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the calcified joint phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased joint mobility Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased joint mobility phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal synovial joint cavity morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal synovial joint cavity morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent temporomandibular joint Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent temporomandibular joint phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal incudostapedial joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal incudostapedial joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal incudomalleolar joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal incudomalleolar joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal rib joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal rib joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal knee joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal knee joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal costochondral joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal costochondral joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
joint contracture Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the joint contracture phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
joint inflammation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the joint inflammation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
chronic joint inflammation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the chronic joint inflammation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
accelerated temporomandibular joint osteoarthritis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the accelerated temporomandibular joint osteoarthritis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal elbow joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal elbow joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal hip joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hip joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal synovial joint capsule morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal synovial joint capsule morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
joint dislocation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the joint dislocation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal joint mobility Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal joint mobility phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal shoulder joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal shoulder joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent temporomandibular joint disk Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent temporomandibular joint disk phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
joint laxity Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the joint laxity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal temporomandibular joint disk morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal temporomandibular joint disk morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent costovertebral joint Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent costovertebral joint phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
atlanto-occipital joint dislocation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the atlanto-occipital joint dislocation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal temporomandibular joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal temporomandibular joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal hindlimb joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hindlimb joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal wrist joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal wrist joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal ankle joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal ankle joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal forelimb joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal forelimb joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal hand joint morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hand joint morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal joint morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal joint morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
embryonic skeletal joint development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the embryonic skeletal joint development biological process from the curated GO Biological Process Annotations 2025 dataset. |
embryonic skeletal joint morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the embryonic skeletal joint morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
embryonic skeletal limb joint morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the embryonic skeletal limb joint morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
Autoimmune interstitial lung, joint, and kidney disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune interstitial lung, joint, and kidney disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Joint Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Joint from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
Joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Hip joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Hip joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Temporomandibular joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Temporomandibular joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Ankle joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Ankle joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Hinge joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Hinge joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Femorotibial joint Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Femorotibial joint in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Joint hypermobility Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lower-limb joint contracture Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lower-limb joint contracture phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MULTIPLE JOINT DISLOCATI Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MULTIPLE JOINT DISLOCATI phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Joint laxity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Joint laxity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multiple joint contractures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiple joint contractures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Joint dislocation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Joint dislocation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Joint damage progression in ACPA-negative rheumatoid arthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Joint damage progression in ACPA-negative rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Spherical equivalent (joint analysis main effects and education interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Spherical equivalent (joint analysis main effects and education interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Joint mobility (Beighton score) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Joint mobility (Beighton score) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Aseptic loosening in total joint arthroplasty Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Aseptic loosening in total joint arthroplasty phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Temporomandibular joint disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Temporomandibular joint disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
joint destruction in rheumatoid arthritis (rapid vs slow) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the joint destruction in rheumatoid arthritis (rapid vs slow) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to TNF inhibitor in rheumatoid arthritis (change in swollen 28-joint count) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to TNF inhibitor in rheumatoid arthritis (change in swollen 28-joint count) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to TNF inhibitor in rheumatoid arthritis (change in tender 28-joint count) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to TNF inhibitor in rheumatoid arthritis (change in tender 28-joint count) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hip minimal joint space width Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hip minimal joint space width phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Osteoarthritis of the hip or knee (with total joint replacement) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Osteoarthritis of the hip or knee (with total joint replacement) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Joint damage in rheumatoid arthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Joint damage in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Body mass index (joint analysis main effects and physical activity interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Body mass index (joint analysis main effects and physical activity interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Body mass index (joint analysis main effects and smoking interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Body mass index (joint analysis main effects and smoking interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Possible neuropathic pain in post total joint replacement surgery for osteoarthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Possible neuropathic pain in post total joint replacement surgery for osteoarthritis 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
metaphyseal dysplasia without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 4 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
anauxetic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the anauxetic dysplasia 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Focal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Dysplasia And Retinal Aplasia (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Dysplasia And Retinal Aplasia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniofrontonasal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniofrontonasal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontonasal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteofibrous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteofibrous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniodiaphyseal Dysplasia, Autosomal Dominant (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniodiaphyseal Dysplasia, Autosomal Dominant (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cranioectodermal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cranioectodermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniometaphyseal Dysplasia, Autosomal Recessive Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniometaphyseal Dysplasia, Autosomal Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Florid Cemento-Osseous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Florid Cemento-Osseous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Septo-Optic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Septo-Optic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontometaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontometaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prostatic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prostatic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Cytopenia With Multilineage Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epiphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Cell Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Cell Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Retinal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Retinal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hidrotic Ectodermal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hidrotic Ectodermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chorioretinal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chorioretinal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondyloepimetaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondyloepimetaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gastric Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gastric Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cystic Renal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cystic Renal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acromesomelic Dysplasia Hunter-Thompson Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acromesomelic Dysplasia Hunter-Thompson Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acromesomelic Dysplasia, Demirhan Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acromesomelic Dysplasia, Demirhan Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Unilateral Renal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Unilateral Renal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desbuquois Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desbuquois Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebellar Cortical Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebellar Cortical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dysplasia Of Larynx Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dysplasia Of Larynx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Moderate Pancreatic Duct Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Moderate Pancreatic Duct Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Cytopenia With Multilineage Dysplasia (Rcmd) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia (Rcmd) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dyssegmental Dysplasia, Rolland-Desbuquois Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dyssegmental Dysplasia, Rolland-Desbuquois Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transitional Cell Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transitional Cell Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acampomelic Campomelic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acampomelic Campomelic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniodiaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniodiaphyseal 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. |
Short-Rib Thoracic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydranencephaly With Renal Aplasia-Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydranencephaly With Renal Aplasia-Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thymic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thymic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bilateral Renal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bilateral Renal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Maxillonasal Dysplasia, Binder Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Maxillonasal Dysplasia, Binder Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Skeleton Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Skeleton Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cortical Dysplasia With Focal Epilepsy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cortical Dysplasia With Focal Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Otospondylomegaepiphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Otospondylomegaepiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Czech Dysplasia, Metatarsal Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Czech Dysplasia, Metatarsal Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Kniest Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Kniest Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Namaqualand Hip Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Namaqualand Hip Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Platyspondylic Lethal Skeletal Dysplasia, Torrance Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondyloperipheral Dysplasia Short Ulna Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondyloperipheral Dysplasia Short Ulna in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Oculoskeletal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Oculoskeletal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, With Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epiphyseal Dysplasia, Multiple, With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pontine Tegmental Cap Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pontine Tegmental Cap Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dysplasia Of Colon Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dysplasia Of Colon in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hip Dysplasia, Beukes Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hip Dysplasia, Beukes Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Facial Dermal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Facial Dermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Facial Dermal Dysplasia 4 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Facial Dermal Dysplasia 4 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ghosal Hematodiaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ghosal Hematodiaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Cortical Dysplasia Type Iia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Cortical Dysplasia Type Iia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bronchial Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bronchial Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Squamous Lung Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Squamous Lung Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fingernail Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fingernail Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Rib Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Rib Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Langer Mesomelic Dysplasia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Langer Mesomelic Dysplasia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intestinal Epithelial Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intestinal Epithelial Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bone Marrow Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bone Marrow Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dysplasia Epiphysealis Hemimelica Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dysplasia Epiphysealis Hemimelica in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gracile Bone Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gracile Bone Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hem Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hem Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bent Bone Dysplasia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bent Bone Dysplasia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Otodental Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Otodental Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bent Bone Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bent Bone Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Skeletal Dysplasia With Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Skeletal Dysplasia With Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Valvular Dysplasia, X-Linked Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Valvular Dysplasia, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Terminal Osseous Dysplasia And Pigmentary Defects Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Terminal Osseous Dysplasia And Pigmentary Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Boomerang Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Boomerang Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibrocartilaginous Dysplasia Of Bone Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibrocartilaginous Dysplasia Of Bone in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibrocystic Dysplasia Of Bone Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibrocystic Dysplasia Of Bone in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Caudal Dysplasia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Caudal Dysplasia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acromesomelic Dysplasia, Maroteaux Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acromesomelic Dysplasia, Maroteaux Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Angel Shaped Phalangoepiphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Angel Shaped Phalangoepiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Developmental Dysplasia Of The Hip 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Developmental Dysplasia Of The Hip 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Cortical Dysplasia Type Iib Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Cortical Dysplasia Type Iib in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Oculodentodigital Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Oculodentodigital Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibrous Dysplasia Of Bone With Intramuscular Myxoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibrous Dysplasia Of Bone With Intramuscular Myxoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibrous Dysplasia, Monostotic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibrous Dysplasia, Monostotic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyostotic Fibrous Dysplasia, Somatic, Mosaic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyostotic Fibrous Dysplasia, Somatic, Mosaic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multicystic Renal Dysplasia, Bilateral Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multicystic Renal Dysplasia, Bilateral in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Genitourinary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Genitourinary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dyssegmental Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dyssegmental Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thoracic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acrocapitofemoral Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acrocapitofemoral Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acropectorovertebral Dysplasia, F-Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acropectorovertebral Dysplasia, F-Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Dysplasia Diffuse Cystic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Dysplasia Diffuse Cystic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Schneckenbecken Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Schneckenbecken Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bladder Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bladder Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hair-Nail Ectodermal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hair-Nail Ectodermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bent Bone Dysplasia Group Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bent Bone Dysplasia Group in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Stuve-Wiedemann Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Stuve-Wiedemann Dysplasia 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. |
Parietal Foramina With Cleidocranial Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Parietal Foramina With Cleidocranial Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Cortical Dysplasia Of Taylor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Cortical Dysplasia Of Taylor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acrocephalopolydactylous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acrocephalopolydactylous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal-Hepatic-Pancreatic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal-Hepatic-Pancreatic 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. |
Diencephalic Mesencephalic Junction Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diencephalic Mesencephalic Junction Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Blomstrand Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Blomstrand Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Kyphomelic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Kyphomelic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cervical Vertebral Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cervical Vertebral Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anauxetic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anauxetic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anauxetic Dysplasia 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anauxetic Dysplasia 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Eiken Skeletal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Eiken Skeletal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly 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 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. |
Craniolenticulosutural Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniolenticulosutural Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Cytopenia With Multilineage Dysplasia And Ringed Sideroblasts Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia And Ringed Sideroblasts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
De La Chapelle Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease De La Chapelle Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dentin Dysplasia, Type I, With Extreme Microdontia And Misshapen Teeth Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dentin Dysplasia, Type I, With Extreme Microdontia And Misshapen Teeth in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Campomelic Dysplasia With Autosomal Sex Reversal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Campomelic Dysplasia With Autosomal Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pelviscapular Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pelviscapular Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebrofaciothoracic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebrofaciothoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ulcerative Colitis-Associated Low-Grade Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ulcerative Colitis-Associated Low-Grade Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Trichorhinophalangeal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Trichorhinophalangeal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metatropic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metatropic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Isolated Focal Cortical Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Isolated Focal Cortical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontoparietal Cortical Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontoparietal Cortical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Placental Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Placental Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Odonto-Onycho-Dermal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Odonto-Onycho-Dermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Odontoonychodermal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Odontoonychodermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mandibuloacral Dysplasia With Type B Lipodystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mandibuloacral Dysplasia With Type B Lipodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acromelic Frontonasal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acromelic Frontonasal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Toenail Dysplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Toenail Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cerebellar Dysplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cerebellar Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Spondyloepimetaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Optic Nerve Dysplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Optic Nerve Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Dysplasia Of The Femoral Head Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dysplasia Of The Femoral Head in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Brainstem Dysplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Brainstem Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short-Rib Thoracic Dysplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Osteofibrous Dysplasia, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Osteofibrous Dysplasia, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Megakaryocyte Dysplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Megakaryocyte Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Arrhythmogenic Right Ventricular Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cerebro-Facio-Thoracic Dysplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cerebro-Facio-Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multiple epiphyseal dysplasia and pseudoachondroplasia genes Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Multiple epiphyseal dysplasia and pseudoachondroplasia genes pathway from the WikiPathways Pathways 2024 dataset. |
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) Gene Setproteins participating in the IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) pathway from the Reactome Pathways 2024 dataset. |
Campomelic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Campomelic dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spondyloepimetaphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spondyloepimetaphyseal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Metatropic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Metatropic dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease short-rib thoracic dysplasia 9 with or without polydactyly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Osteoglophonic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Osteoglophonic dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hypohidrotic ectodermal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hypohidrotic ectodermal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Ectodermal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ectodermal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Anauxetic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Anauxetic dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Cranioectodermal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Cranioectodermal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Multiple epiphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Multiple epiphyseal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Septooptic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Septooptic dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Ectodermal dysplasia and immune deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ectodermal dysplasia and immune deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Frontonasal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Frontonasal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Boomerang dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Boomerang dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 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. |
Greenberg dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Greenberg dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Thanatophoric dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Thanatophoric dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Diastrophic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Diastrophic dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Craniometaphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Craniometaphyseal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Oculodentodigital dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Oculodentodigital dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Geleophysic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Geleophysic dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Schimke immuno-osseous dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Schimke immuno-osseous dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
SOST-related sclerosing bone dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease SOST-related sclerosing bone dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Acromicric dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Acromicric dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Gnathodiaphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Gnathodiaphyseal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Otospondylomegaepiphyseal dysplasia, autosomal dominant Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Otospondylomegaepiphyseal dysplasia, autosomal dominant from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Otospondylomegaepiphyseal dysplasia, autosomal recessive Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Otospondylomegaepiphyseal dysplasia, autosomal recessive from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Mandibuloacral dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Mandibuloacral dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spondyloperipheral dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spondyloperipheral dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Torrance type platyspondylic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Torrance type platyspondylic dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Kniest dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Kniest dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |