| Name |
|---|
OPLL Geneossification of posterior longitudinal ligament of spine |
SUCO GeneSUN domain containing ossification factor Predicted to be involved in positive regulation of collagen biosynthetic process; positive regulation of osteoblast differentiation; and regulation of bone remodeling. Predicted to be located in rough endoplasmic reticulum. Predicted to be active in cytoplasm and membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SNORC Genesecondary ossification center associated regulator of chondrocyte maturation Predicted to be involved in cartilage development. Predicted to be located in several cellular components, including collagen-containing extracellular matrix; cytoplasm; and extracellular region. Predicted to be active in cell periphery. [provided by Alliance of Genome Resources, Mar 2025] |
PKDTS Genepolycystic kidney disease, infantile severe, with tuberous sclerosis |
USH1C GeneUsher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
USH1E GeneUsher syndrome 1E (autosomal recessive, severe) |
MRST GeneMental retardation, severe, with spasticity and tapetoretinal |
COPD GenePulmonary disease, chronic obstructive, severe early-onset |
severe carpal ossification delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Carpal Ossification Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Carpal Ossification Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
two carpal ossification centers present at birth Gene SetFrom HPO Gene-Disease Associations genes associated with the two carpal ossification centers present at birth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
advanced ossification of carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the advanced ossification of carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of carpal bone ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of carpal bone ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multiple carpal ossification centers Gene SetFrom HPO Gene-Disease Associations genes associated with the multiple carpal ossification centers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
delayed ossification of carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the delayed ossification of carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Advanced Ossification Of Carpal Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Advanced Ossification Of Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Delayed Ossification Of Carpal Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Ossification Of Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multiple Carpal Ossification Centers Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multiple Carpal Ossification Centers in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Two Carpal Ossification Centers Present At Birth Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Two Carpal Ossification Centers Present At Birth in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
ossification of posterior longitudinal ligament; ossification, heterotopic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ossification of posterior longitudinal ligament; ossification, heterotopic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe global developmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Expressive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Receptive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Global Developmental Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Speech Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Speech Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual disability-severe speech delay-mild dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe global developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-severe speech delay-mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodevelopmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic paraplegia-severe developmental delay-epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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. |
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs non-severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs non-severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Tarsal carpal coalition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpal Tunnel Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carpal Tunnel Syndrome from the curated CTD Gene-Disease Associations dataset. |
carpal tunnel syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease carpal tunnel syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
carpal tunnel syndrome; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carpal tunnel syndrome; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carpal-tunnel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carpal-tunnel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carpal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term carpal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
accessory carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the accessory carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
malaligned carpal bone Gene SetFrom HPO Gene-Disease Associations genes associated with the malaligned carpal bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal calcification of the carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal calcification of the carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
irregular carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the irregular carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
carpal bone hypoplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the carpal bone hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
carpal osteolysis Gene SetFrom HPO Gene-Disease Associations genes associated with the carpal osteolysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
crowded carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the crowded carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
carpal bone aplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the carpal bone aplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
carpal synostosis Gene SetFrom HPO Gene-Disease Associations genes associated with the carpal synostosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
stippled calcification in carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the stippled calcification in carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormally shaped carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormally shaped carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
aplasia/hypoplasia involving the carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the aplasia/hypoplasia involving the carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
synostosis of carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the synostosis of carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Carpal Tunnel Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Carpal Tunnel Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
fused carpal bones Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the fused carpal bones phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent carpal bone Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent carpal bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal carpal bone morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal carpal bone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
carpal tunnel syndrome, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the carpal tunnel syndrome, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
tarsal-carpal coalition syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the tarsal-carpal coalition syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Tarsal-Carpal Coalition Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tarsal-Carpal Coalition Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Carpal Tunnel Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Carpal Tunnel Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Carpal Synostosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Carpal Synostosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Irregular Carpal Bones Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Irregular Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Accessory Carpal Bones Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Accessory Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Synostosis, Carpal, With Dysplastic Elbow Joints And Brachydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Synostosis, Carpal, With Dysplastic Elbow Joints And Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bilateral Carpal Tunnel Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bilateral Carpal Tunnel Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Carpal Tunnel Syndrome, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Carpal Tunnel Syndrome, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Carpal Bone Hypoplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Carpal Bone Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Synostosis Of Carpal Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Synostosis Of Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of The Carpal Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of The Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Calcification Of The Carpal Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Calcification Of The Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Stippled Calcification In Carpal Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Stippled Calcification In Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormally Shaped Carpal Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormally Shaped Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Malaligned Carpal Bone Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Malaligned Carpal Bone in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Carpal Bone Aplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Carpal Bone Aplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Carpal Osteolysis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Carpal Osteolysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Crowded Carpal Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Crowded Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Aplasia/Hypoplasia Involving The Carpal Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Aplasia/Hypoplasia Involving The Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
abnormal carpal bone morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal carpal bone morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
fused carpal bones Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the fused carpal bones phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent carpal bone Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent carpal bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Carpal tunnel syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Carpal tunnel syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
tarsal-carpal coalition syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease tarsal-carpal coalition syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Carpal tunnel syndrome Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Carpal tunnel syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Carpal tunnel syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Carpal tunnel syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Carpal tunnel syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Carpal tunnel syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
tarsal-carpal coalition syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease tarsal-carpal coalition syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Carpal tunnel syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Carpal tunnel syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tarsal-carpal coalition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Tarsal-carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Carpal tunnel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Carpal tunnel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Carpal tunnel syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Carpal tunnel syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Growth retardation, developmental delay, coarse facies, and early death Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, hyperphagia, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death from the curated CTD Gene-Disease Associations dataset. |
delay discounting Gene SetFrom GAD Gene-Disease Associations genes associated with the disease delay discounting in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
delay Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term delay in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
moderate global developmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the moderate global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
motor delay Gene SetFrom HPO Gene-Disease Associations genes associated with the motor delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neurodevelopmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the neurodevelopmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mild global developmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the mild global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
marked delay in bone age Gene SetFrom HPO Gene-Disease Associations genes associated with the marked delay in bone age phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
global developmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
growth delay Gene SetFrom HPO Gene-Disease Associations genes associated with the growth delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
expressive language delay Gene SetFrom HPO Gene-Disease Associations genes associated with the expressive language delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
obesity, hyperphagia, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, hyperphagia, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, seizures, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, seizures, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
?obesity, hyperphagia, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?obesity, hyperphagia, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
growth retardation, developmental delay, coarse facies, and early death Gene SetFrom OMIM Gene-Disease Associations genes associated with the growth retardation, developmental delay, coarse facies, and early death phenotype from the curated OMIM Gene-Disease Associations dataset. |
sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
Global Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Clumsiness - Motor Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Clumsiness - Motor Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Developmental Delay, Epilepsy, And Neonatal Diabetes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Developmental Delay, Epilepsy, And Neonatal Diabetes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mild Expressive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mild Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Speech Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Speech Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gross Motor Development Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gross Motor Development Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Profound Global Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Profound Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brachycephaly, Trichomegaly, And Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brachycephaly, Trichomegaly, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Receptive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Constitutional Delay Of Puberty Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Constitutional Delay Of Puberty in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Constitutional Delay Of Growth And Puberty Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Constitutional Delay Of Growth And Puberty in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Moderate Expressive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Moderate Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Developmental And Speech Delay Due To Sox5 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Plantar Lipomatosis, Unusual Facies, And Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Plantar Lipomatosis, Unusual Facies, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac, Facial, And Digital Anomalies With Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac, Facial, And Digital Anomalies With Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Developmental Delay (Disorder) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Developmental Delay (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Growth Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Growth Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mild Global Developmental Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Motor Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Motor Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neurodevelopmental Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neurodevelopmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Moderate Global Developmental Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Moderate Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Expressive Language Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Language Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Marked Delay In Bone Age Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Marked Delay In Bone Age in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Pili Torti Developmental Delay Neurological Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Pili Torti Developmental Delay Neurological Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Developmental Delay, Mild Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Developmental Delay, Mild in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Moderate Receptive Language Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Moderate Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
behavioral developmental delay Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the behavioral developmental delay phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
motor developmental delay Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the motor developmental delay phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
microcephaly, seizures, and developmental delay Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease microcephaly, seizures, and developmental delay from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
microcephaly, seizures, and developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, seizures, and developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental delay and seizures with or without movement abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental delay and seizures with or without movement abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital limbs-face contractures-hypotonia-developmental delay syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital limbs-face contractures-hypotonia-developmental delay syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
brachycephaly, trichomegaly, and developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease brachycephaly, trichomegaly, and developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental delay, hypotonia, and impaired language Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental delay, hypotonia, and impaired language in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Global developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiac anomalies - developmental delay - facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth delay due to insulin-like growth factor I resistance Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Developmental delay and seizures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental delay and seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Macrocephaly-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Macrocephaly-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pancytopenia-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pancytopenia-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Moderate global developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Moderate global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GNAO1-related developmental delay-seizures-movement disorder spectrum Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the GNAO1-related developmental delay-seizures-movement disorder spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Language delay and attention deficit-hyperactivity disorder/cognitive impairment Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Language delay and attention deficit-hyperactivity disorder/cognitive impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-brachydactyly-obesity-global developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-brachydactyly-obesity-global developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Expressive language delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Expressive language delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Motor delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Motor delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth delay due to insulin-like growth factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neuromotor delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neuromotor delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pili torti-developmental delay-neurological abnormalities syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pili torti-developmental delay-neurological abnormalities syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SEPHS1-related developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SEPHS1-related developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GRIN2B-related developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the GRIN2B-related developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ossification of the posterior longitudinal ligament of the spine Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ossification of the posterior longitudinal ligament of the spine from the curated CTD Gene-Disease Associations dataset. |
Ossification, Heterotopic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ossification, Heterotopic from the curated CTD Gene-Disease Associations dataset. |
ossification of the posterior longitudinal ligament of the spine Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ossification of the posterior longitudinal ligament of the spine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ossification of the posterior longitudinal ligament Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ossification of the posterior longitudinal ligament in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ossification of the posterior longitudinal ligament of the spine (opll) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ossification of the posterior longitudinal ligament of the spine (opll) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ossification of spine Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ossification of spine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; ossification of posterior longitudinal ligament Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; ossification of posterior longitudinal ligament 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. |
hyperostosis; ossification of posterior longitudinal ligament; spondylitis, ankylosing; uveitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperostosis; ossification of posterior longitudinal ligament; spondylitis, ankylosing; uveitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ossification of posterior longitudinal ligament Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ossification of posterior longitudinal ligament in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spinal ossification Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spinal ossification in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ossification Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term ossification in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
ossification involved in bone remodeling Gene SetFrom GO Biological Process Annotations 2015 genes participating in the ossification involved in bone remodeling biological process from the curated GO Biological Process Annotations 2015 dataset. |
direct ossification Gene SetFrom GO Biological Process Annotations 2015 genes participating in the direct ossification biological process from the curated GO Biological Process Annotations 2015 dataset. |
endochondral ossification Gene SetFrom GO Biological Process Annotations 2015 genes participating in the endochondral ossification biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of ossification Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of ossification biological process from the curated GO Biological Process Annotations 2015 dataset. |
replacement ossification Gene SetFrom GO Biological Process Annotations 2015 genes participating in the replacement ossification biological process from the curated GO Biological Process Annotations 2015 dataset. |
ossification Gene SetFrom GO Biological Process Annotations 2015 genes participating in the ossification biological process from the curated GO Biological Process Annotations 2015 dataset. |
ossification involved in bone maturation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the ossification involved in bone maturation biological process from the curated GO Biological Process Annotations 2015 dataset. |
intramembranous ossification Gene SetFrom GO Biological Process Annotations 2015 genes participating in the intramembranous ossification biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of ossification Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of ossification biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of ossification Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of ossification biological process from the curated GO Biological Process Annotations 2015 dataset. |
abnormal ossification of hand bones Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal ossification of hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absent sternal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the absent sternal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
irregular ossification at anterior rib ends Gene SetFrom HPO Gene-Disease Associations genes associated with the irregular ossification at anterior rib ends phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal enchondral ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal enchondral ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
fused sternal ossification centers Gene SetFrom HPO Gene-Disease Associations genes associated with the fused sternal ossification centers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal humeral ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal humeral ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
decreased calvarial ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased calvarial ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
delayed tarsal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the delayed tarsal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cartilaginous ossification of larynx Gene SetFrom HPO Gene-Disease Associations genes associated with the cartilaginous ossification of larynx phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multicentric ossification of proximal femoral epiphyses Gene SetFrom HPO Gene-Disease Associations genes associated with the multicentric ossification of proximal femoral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multicentric ossification of proximal humeral epiphyses Gene SetFrom HPO Gene-Disease Associations genes associated with the multicentric ossification of proximal humeral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal tarsal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal tarsal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ectopic ossification in ligament tissue Gene SetFrom HPO Gene-Disease Associations genes associated with the ectopic ossification in ligament tissue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of skull ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of skull ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
delayed patellar ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the delayed patellar ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
delayed femoral head ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the delayed femoral head ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
large sternal ossification centers Gene SetFrom HPO Gene-Disease Associations genes associated with the large sternal ossification centers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absent in utero rib ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the absent in utero rib ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal metatarsal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal metatarsal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal pelvis bone ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal pelvis bone ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ectopic ossification in muscle tissue Gene SetFrom HPO Gene-Disease Associations genes associated with the ectopic ossification in muscle tissue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal ossification of the pubic bone Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal ossification of the pubic bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cartilaginous ossification of nose Gene SetFrom HPO Gene-Disease Associations genes associated with the cartilaginous ossification of nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
delayed phalangeal epiphyseal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the delayed phalangeal epiphyseal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
irregular ossification of hand bones Gene SetFrom HPO Gene-Disease Associations genes associated with the irregular ossification of hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal ossification involving the femoral head and neck Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal ossification involving the femoral head and neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal epiphyseal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal epiphyseal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
delayed ossification of pubic rami Gene SetFrom HPO Gene-Disease Associations genes associated with the delayed ossification of pubic rami phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
advanced tarsal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the advanced tarsal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
delayed pubic bone ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the delayed pubic bone ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
increased skull ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the increased skull ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
irregular ossification of the humeral epiphyses Gene SetFrom HPO Gene-Disease Associations genes associated with the irregular ossification of the humeral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
irregular tarsal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the irregular tarsal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ectopic ossification in tendon tissue Gene SetFrom HPO Gene-Disease Associations genes associated with the ectopic ossification in tendon tissue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal vertebral ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal vertebral ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absent in utero ossification of vertebral bodies Gene SetFrom HPO Gene-Disease Associations genes associated with the absent in utero ossification of vertebral bodies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal bone ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal bone ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
supernumerary vertebral ossification centers Gene SetFrom HPO Gene-Disease Associations genes associated with the supernumerary vertebral ossification centers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
decreased skull ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased skull ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
delayed calcaneal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the delayed calcaneal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal foot bone ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal foot bone ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
decreased cranial base ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased cranial base ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal hand bone ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal hand bone ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multicentric femoral head ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the multicentric femoral head ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ectopic ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the ectopic ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal rib ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal rib ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal sternal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal sternal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
delayed epiphyseal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the delayed epiphyseal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Ossification of Posterior Longitudinal Ligament Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ossification of Posterior Longitudinal Ligament phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
abnormal intramembranous bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal intramembranous bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
delayed bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the delayed bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
failure of bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the failure of bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
failure of endochondral bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the failure of endochondral bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal ossification involved in bone maturation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal ossification involved in bone maturation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
failure of sternum ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the failure of sternum ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature intramembranous bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature intramembranous bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal long bone epiphyseal ossification zone morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal long bone epiphyseal ossification zone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
delayed endochondral bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the delayed endochondral bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal sternum ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal sternum ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
impaired ossification of basisphenoid bone Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the impaired ossification of basisphenoid bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature endochondral bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature endochondral bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal endochondral bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal endochondral bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
delayed intramembranous bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the delayed intramembranous bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
failure of intramembranous bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the failure of intramembranous bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Endochondral Ossification(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Endochondral Ossification(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
Endochondral Ossification(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Endochondral Ossification(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
Ectopic Ossification Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ectopic Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormal Bone Ossification Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormal Bone Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ossification Of The Posterior Longitudinal Ligament Of Spine Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ossification Of The Posterior Longitudinal Ligament Of Spine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absent Ossification Of Calvaria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absent Ossification Of Calvaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormal Enchondral Ossification Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormal Enchondral Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormal Pelvis Bone Ossification Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormal Pelvis Bone Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormal Foot Bone Ossification Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormal Foot Bone Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Supernumerary Vertebral Ossification Centers Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Supernumerary Vertebral Ossification Centers in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ectopic Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ectopic Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Decreased Calvarial Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Calvarial Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Delayed Proximal Femoral Epiphyseal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Proximal Femoral Epiphyseal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absent In Utero Ossification Of Vertebral Bodies Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absent In Utero Ossification Of Vertebral Bodies in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absent In Utero Rib Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absent In Utero Rib Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Heterotopic Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Heterotopic Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Advanced Tarsal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Advanced Tarsal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fused Sternal Ossification Centers Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fused Sternal Ossification Centers in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Delayed Epiphyseal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Epiphyseal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Decreased Cranial Base Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Cranial Base Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Delayed Calcaneal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Calcaneal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Delayed Pubic Bone Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Pubic Bone Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Sternal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Sternal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early Ossification Of Capital Femoral Epiphyses Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early Ossification Of Capital Femoral Epiphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Epiphyseal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Epiphyseal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Irregular Ossification At Anterior Rib Ends Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Irregular Ossification At Anterior Rib Ends in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Delayed Femoral Head Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Femoral Head Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multicentric Femoral Head Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multicentric Femoral Head Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multicentric Ossification Of Proximal Femoral Epiphyses Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multicentric Ossification Of Proximal Femoral Epiphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multicentric Ossification Of Proximal Humeral Epiphyses Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multicentric Ossification Of Proximal Humeral Epiphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Irregular Tarsal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Irregular Tarsal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Incomplete Ossification Of Pubis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Incomplete Ossification Of Pubis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absent Sternal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absent Sternal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Hand Bone Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Hand Bone Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Ossification Involving The Femoral Head And Neck Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Ossification Involving The Femoral Head And Neck in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Delayed Ossification Of Pubic Rami Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Ossification Of Pubic Rami in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Delayed Tarsal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Tarsal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Delayed Patellar Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Patellar Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Delayed Phalangeal Epiphyseal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Phalangeal Epiphyseal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cartilaginous Ossification Of Larynx Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cartilaginous Ossification Of Larynx in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cartilaginous Ossification Of Nose Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cartilaginous Ossification Of Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Large Sternal Ossification Centers Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Large Sternal Ossification Centers in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Irregular Ossification Of Hand Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Irregular Ossification Of Hand Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
endochondral ossification Gene SetFrom GO Biological Process Annotations 2023 genes participating in the endochondral ossification biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of ossification Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of ossification biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of ossification Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of ossification biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of ossification Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of ossification biological process from the curated GO Biological Process Annotations 2023 dataset. |
intramembranous ossification Gene SetFrom GO Biological Process Annotations 2023 genes participating in the intramembranous ossification biological process from the curated GO Biological Process Annotations 2023 dataset. |
abnormal sternum ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal sternum ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal long bone epiphyseal ossification zone morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal long bone epiphyseal ossification zone morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
impaired ossification of basisphenoid bone Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the impaired ossification of basisphenoid bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
delayed endochondral bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the delayed endochondral bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal endochondral bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal endochondral bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
delayed bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the delayed bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal intramembranous bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal intramembranous bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
delayed intramembranous bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the delayed intramembranous bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
failure of bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the failure of bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature endochondral bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature endochondral bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature intramembranous bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature intramembranous bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
failure of sternum ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the failure of sternum ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
failure of endochondral bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the failure of endochondral bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
failure of intramembranous bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the failure of intramembranous bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal palatal shelf bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal palatal shelf bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal ossification involved in bone maturation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal ossification involved in bone maturation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal perichondrial ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal perichondrial ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Endochondral ossification Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Endochondral ossification pathway from the WikiPathways Pathways 2024 dataset. |
Endochondral ossification with skeletal dysplasias Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Endochondral ossification with skeletal dysplasias pathway from the WikiPathways Pathways 2024 dataset. |
endochondral ossification Gene SetFrom GO Biological Process Annotations 2025 genes participating in the endochondral ossification biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of ossification Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of ossification biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of ossification Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of ossification biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of ossification Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of ossification biological process from the curated GO Biological Process Annotations 2025 dataset. |
intramembranous ossification Gene SetFrom GO Biological Process Annotations 2025 genes participating in the intramembranous ossification biological process from the curated GO Biological Process Annotations 2025 dataset. |
Ossification of the posterior longitudinal ligament of spine Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Ossification of the posterior longitudinal ligament of spine in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ossification of the posterior longitudinal ligament of spine Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ossification of the posterior longitudinal ligament of spine in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ossification of the posterior longitudinal ligament of the spine Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ossification of the posterior longitudinal ligament of the spine phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, early-onset, severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 18, severe combined immunodeficiency variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperparathyroidism, neonatal severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, atypical Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, early-onset severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, early-onset severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sialic acid storage disease, severe infantile type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
Hyperparathyroidism, Neonatal Severe Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Dengue from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Severe Teratoid Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset. |
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Polycystic kidneys, severe infantile with tuberous sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe type iii hyperlipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe type iii hyperlipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe trauma. mortality Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe trauma. mortality in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe childhood thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe childhood thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sars (severe acute respiratory syndrome) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome. severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe desmoid phenotype Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe desmoid phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild and severe substance abuse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild and severe substance abuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
communicable diseases; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease communicable diseases; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute radiotherapy side effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe hyperkinetic disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe hyperkinetic disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis in blunt trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in blunt trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphopenia; scid; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe ulcerative colitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe ulcerative colitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bone necrosis; osteonecrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe chronic neutropenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe chronic neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
x-linked severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe rsv bronchiolitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe rsv bronchiolitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
outcome after severe injury Gene SetFrom GAD Gene-Disease Associations genes associated with the disease outcome after severe injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis after trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis after trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
immunologic deficiency syndromes; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe photoaging of facial skin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term severe in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Asthma (childhood, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
severe osteoporosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe osteoporosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe platyspondyly Gene SetFrom HPO Gene-Disease Associations genes associated with the severe platyspondyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe photosensitivity Gene SetFrom HPO Gene-Disease Associations genes associated with the severe photosensitivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrops fetalis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrops fetalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t-cell immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe recurrent varicella Gene SetFrom HPO Gene-Disease Associations genes associated with the severe recurrent varicella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe visual impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe visual impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, severe Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrocephalus Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrocephalus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe failure to thrive Gene SetFrom HPO Gene-Disease Associations genes associated with the severe failure to thrive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe b lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe b lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short-limb dwarfism Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe muscular hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe demyelination of the white matter Gene SetFrom HPO Gene-Disease Associations genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe myopia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe limb shortening Gene SetFrom HPO Gene-Disease Associations genes associated with the severe limb shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe periodontitis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe periodontitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
mental retardation, severe, with spasticity and tapetoretinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to il2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinal dystrophy, early-onset severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
ulna and fibula, absence of, with severe limb deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
insulin resistance, severe, digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 1, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, susceptibility to, bmiq9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to ada deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 6, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, neonatal severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, and type ii diabetes} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset. |
{influenza, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, b cell-negative Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, athabascan type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset. |
polycystic kidney disease, infantile severe, with tuberous sclerosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary disease, chronic obstructive, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, resistance to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 2, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Visual Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Visual Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Disorders, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Disorders, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoglycaemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoglycaemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Epstein Barr Virus Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Epstein Barr Virus Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hereditary Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Myopia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Severe Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dementia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dengue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Chronic Obstructive Pulmonary Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Chronic Obstructive Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Periodontitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Periodontitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autism, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autism, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Aplastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Aplastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability And Progressive Spastic Paraplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability And Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Congenital Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Congenital Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mucopolysaccharidosis, Type Vi, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mucopolysaccharidosis, Type Vi, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Nonproliferative Diabetic Retinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Nonproliferative Diabetic Retinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alpha Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Fever With Thrombocytopenia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Fever With Thrombocytopenia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alcohol Dependence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alcohol Dependence 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. |
Severe Persistent Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Persistent Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Respiratory Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Asthma With Fungal Sensitisation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Asthma With Fungal Sensitisation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Severe Refractory Exacerbation Of Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Severe Refractory Exacerbation Of Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Granulocytopenia Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Granulocytopenia Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Beta Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Beta Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Pediatric Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Varicella, Severe Recurrent Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Varicella, Severe Recurrent in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Major Depression With Psychotic Features Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Major Depression With Psychotic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Athabaskan Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Athabaskan Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Recurrent Major Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Recurrent Major Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Childhood Autosomal Recessive Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe [Duchenne] Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe [Duchenne] Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reaction To Severe Stress, And Adjustment Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reaction To Severe Stress, And Adjustment Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Copd, Severe Early-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Copd, Severe Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Short-Limb Dwarfism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Short-Limb Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe T-Cell Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe T-Cell Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Galactose Epimerase Deficiency, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Galactose Epimerase Deficiency, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Greig Cephalopolysyndactyly Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Greig Cephalopolysyndactyly Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dehydration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dehydration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Left Ventricular Systolic Dysfunction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Left Ventricular Systolic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Costello Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Costello Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hunter'S Syndrome, Severe Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hunter'S Syndrome, Severe Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Restriction, Severe, With Distinctive Facies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Restriction, Severe, With Distinctive Facies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Opioid Use Disorder, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Opioid Use Disorder, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early Childhood Onset Retinal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early Childhood Onset Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngospasm, Severe Neonatal Episodic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngospasm, Severe Neonatal Episodic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Muscular Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Diarrhea Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe B Lymphocytopenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe B Lymphocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Psychomotor Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Dry Skin Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Dry Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Congenital Neutropenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Congenital Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Cutaneous Adverse Reactions (Smq) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Cutaneous Adverse Reactions (Smq) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early Severe Fetal Akinesia Sequence Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early Severe Fetal Akinesia Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Failure To Thrive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Failure To Thrive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Photosensitivity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Photosensitivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hearing Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Generalized Osteoporosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Generalized Osteoporosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Limb Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Limb Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Platyspondyly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Platyspondyly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Headache Severe Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Headache Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Back Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrocephalus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Influenza, Severe, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Influenza, Severe, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Demyelination Of The White Matter Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Demyelination Of The White Matter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrops Fetalis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrops Fetalis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Gastroesophageal Reflux Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Gastroesophageal Reflux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Feeding Problems Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Feeding Problems in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe congenital neutropenia type 4 (G6PC3) Gene Setproteins participating in the Severe congenital neutropenia type 4 (G6PC3) pathway from the Reactome Pathways 2024 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital neutropenia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
adult-onset severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease adult-onset severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Persistent severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Persistent severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Susceptibility to severe coronavirus disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe coronavirus disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hydrocephalus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hydrocephalus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early onset and severe retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early onset and severe retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodegenerative syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodegenerative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Athabaskan severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-childhood-onset retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-childhood-onset retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal severe primary hyperparathyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal severe primary hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ZAP70-Related Severe Combined Immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe sensorineural hearing impairment Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe sensorineural hearing impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-progressive spastic diplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-progressive spastic diplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARD11 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked mitochondrial encephalomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked mitochondrial encephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CTPS1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe underweight in infancy childhood and adolescence Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe underweight in infancy childhood and adolescence phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARMIL2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Susceptibility to severe COVID- Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe COVID- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intermediate severe Salla disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intermediate severe Salla disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CORO1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to IKK2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe dermatitis-multiple allergies-metabolic wasting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe dermatitis-multiple allergies-metabolic wasting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LCK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe muscular hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe muscular hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LAT deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CV-A6-associated hand, foot, and mouth disease (severe vs mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the CV-A6-associated hand, foot, and mouth disease (severe vs mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis I) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis I) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis II) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis II) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pelvic organ prolapse (moderate/severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pelvic organ prolapse (moderate/severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe influenza A (H1N1) infection Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe influenza A (H1N1) infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria (adjusted for sickle cell variant rs334) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aplastic anemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aplastic anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aortic features in Marfan syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe skin toxicity response to cetuximab in colorectal cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe skin toxicity response to cetuximab in colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma (moderate or severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma (moderate or severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Osteoarthritis (hand, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Osteoarthritis (hand, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe diabetic retinopathy in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe diabetic retinopathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hypospadias (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hypospadias (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Glucosuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Glucosuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hematuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hematuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Proteinuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Proteinuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Ketonuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ketonuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Childhood asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Childhood asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Adolescent idiopathic scoliosis (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to mepolizumab in severe asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to mepolizumab in severe asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced acute severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced acute severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe alopecia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe alopecia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs none or mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs none or mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe progression in rheumatoid arthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe progression in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe bacterial meningitis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe bacterial meningitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe exacerbations in childhood asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe exacerbations in childhood asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gingival inflammation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gingival inflammation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gastric atrophy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gastric atrophy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-deficient type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-deficient type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-resistant type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-resistant type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe autoimmune type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe autoimmune type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe coronary stenosis (young age of onset interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe coronary stenosis (young age of onset interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |