| Name |
|---|
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 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. |
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 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. |
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. |
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 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. |
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 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 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. |
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. |
Blepharophimosis-ptosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coffin Siris/Intellectual Disability Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coffin Siris/Intellectual Disability phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Syndromic intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intellectual Disability Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Intellectual Disability from the curated CTD Gene-Disease Associations dataset. |
syndromic intellectual disability Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease syndromic intellectual disability from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
intellectual disability Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease intellectual disability from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
syndromic intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease syndromic intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
non-syndromic intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease non-syndromic intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
intellectual disability, moderate Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, moderate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, progressive Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, progressive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, profound Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, profound phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, mild Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, mild phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Intellectual Disability Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Intellectual Disability phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
blepharophimosis-ptosis-intellectual disability syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Moderate Intellectual Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Moderate Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adnp-Related Multiple Congenital Anomalies, Intellectual Disability, Autism Spectrum Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adnp-Related Multiple Congenital Anomalies, Intellectual Disability, Autism Spectrum Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Borderline Intellectual Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Borderline Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hivep2-Related Intellectual Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hivep2-Related Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intellectual Disability, Progressive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intellectual Disability, Progressive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intellectual Disability Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intellectual disability Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Intellectual disability from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked intellectual disability-psychosis-macroorchidism syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked intellectual disability-psychosis-macroorchidism syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Syndromic X-linked intellectual disability from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Lubs type Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Syndromic X-linked intellectual disability Lubs type from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Syndromic intellectual disability Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Syndromic intellectual disability from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Snyder type Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Syndromic X-linked intellectual disability Snyder type from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Siderius type Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Syndromic X-linked intellectual disability Siderius type from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Alpha thalassemia-X-linked intellectual disability syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Alpha thalassemia-X-linked intellectual disability syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability 94 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability 94 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 99 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 99 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Shashi type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Shashi type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Alpha thalassemia-intellectual disability syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Alpha thalassemia-intellectual disability syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Cabezas type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Cabezas type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Pilorge type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Pilorge type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Lubs type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Lubs type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked intellectual disability-psychosis-macroorchidism syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked intellectual disability-psychosis-macroorchidism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Stocco Dos Santos type X-linked intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Stocco Dos Santos type X-linked intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 98 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 98 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 91 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 91 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 58 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 58 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
deafness-intellectual disability, Martin-Probst type syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease deafness-intellectual disability, Martin-Probst type syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Claes-Jensen type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Claes-Jensen type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability type 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability type 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Najm type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Najm type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Snyder type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Snyder type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Turner type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Turner type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Alpha thalassemia-X-linked intellectual disability syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Alpha thalassemia-X-linked intellectual disability syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Siderius type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Siderius type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 81 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 81 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 63 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 63 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Uveal coloboma-cleft lip and palate-intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Uveal coloboma-cleft lip and palate-intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 106 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 106 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 30 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 101 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 101 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 103 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 103 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 90 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 90 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy with cataracts and intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy with cataracts and intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
female-restricted syndromic X-linked intellectual disability 99 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease female-restricted syndromic X-linked intellectual disability 99 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Raymond type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Raymond type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 21 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked intellectual disability-short stature-overweight syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked intellectual disability-short stature-overweight syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 92 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 92 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 41 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 41 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Hedera type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Hedera type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 97 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 97 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability Nascimento type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability Nascimento type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 93 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 93 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 89 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 89 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 72 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 72 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 77 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 77 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual disability 34 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual disability 34 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 107 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 107 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability ARX-related Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability ARX-related in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 73 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 73 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual disability 46 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual disability 46 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Marfanoid habitus and intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfanoid habitus and intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperphosphatasia-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphosphatasia-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hirschsprung disease-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hirschsprung disease-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic X-linked intellectual disability Raymond Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic X-linked intellectual disability Raymond phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic X-linked intellectual disability Hedera Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic X-linked intellectual disability Hedera phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked intellectual disability Cabezas Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked intellectual disability Cabezas phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Blepharophimosis - intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Blepharophimosis - intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic X-linked intellectual disability Najm Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic X-linked intellectual disability Najm phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic X-linked intellectual disability Snyder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic X-linked intellectual disability Snyder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Alpha thalassemia-X-linked intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Alpha thalassemia-X-linked intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-hypotonic facies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-hypotonic facies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked intellectual disability-psychosis-macroorchidism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked intellectual disability-psychosis-macroorchidism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic X-linked intellectual disability Lubs Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic X-linked intellectual disability Lubs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant non-syndromic intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant non-syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Alopecia-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Alopecia-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability and myopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability and myopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rare genetic intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rare genetic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone 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. |
CTCF-related syndromic intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CTCF-related syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-hypotonia-spasticity-sleep disorder syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Alpha-thalassemia/intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Alpha-thalassemia/intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic X-linked intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic X-linked intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked intellectual disability-cerebellar hypoplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked intellectual disability-cerebellar hypoplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic X-linked intellectual disability Claes-Jensen Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic X-linked intellectual disability Claes-Jensen phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Coffin Siris/Intellectual Disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Coffin Siris/Intellectual Disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-epilepsy-extrapyramidal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-epilepsy-extrapyramidal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
DYRK1A-related intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the DYRK1A-related intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-strabismus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-strabismus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-syndromic X-linked intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-syndromic X-linked intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
UPF3B-associated intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the UPF3B-associated intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability and seizures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability and seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked intellectual disability-hypotonia-movement disorder syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked intellectual disability-hypotonia-movement disorder syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic X-linked intellectual disability Siderius Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic X-linked intellectual disability Siderius phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MED12-related intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MED12-related intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebral visual impairment and intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebral visual impairment and intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TELO2-related intellectual disability-neurodevelopmental disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TELO2-related intellectual disability-neurodevelopmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gnb5-related intellectual disability-cardiac arrhythmia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gnb5-related intellectual disability-cardiac arrhythmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GATAD2B-related intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the GATAD2B-related intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked intellectual disability-short stature-overweight syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked intellectual disability-short stature-overweight syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ZC4H2-related X-linked intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ZC4H2-related X-linked intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ACTL6B-related dominant intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ACTL6B-related dominant intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ZSWIM6 related intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ZSWIM6 related intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-thin corpus callosum-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly-thin corpus callosum-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rare syndromic intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rare syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SIN3A-related intellectual disability syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SIN3A-related intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SIN3A-related intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic X-linked intellectual disability Nascimento Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic X-linked intellectual disability Nascimento phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nonspecific Intellectual Disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nonspecific Intellectual Disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Uveal coloboma-cleft lip and palate-intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Uveal coloboma-cleft lip and palate-intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
DNHD1-related Intellectual Disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the DNHD1-related Intellectual Disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
KIF16B-related Intellectual Disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the KIF16B-related Intellectual Disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset parkinsonism-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset parkinsonism-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive non-syndromic intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive non-syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked syndromic intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
RLIM-related syndromic intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the RLIM-related syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Tall stature-intellectual disability-renal anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Tall stature-intellectual disability-renal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic X-linked intellectual disability Shashi Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic X-linked intellectual disability Shashi phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Deafness-intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deafness-intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Paraplegia-intellectual disability-hyperkeratosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Paraplegia-intellectual disability-hyperkeratosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CLIP1-related intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CLIP1-related intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
RFX3-related intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the RFX3-related intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SGSM3-related intellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SGSM3-related intellectual disability 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. |
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. |
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. |
learning disability Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease learning disability in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
learning disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease learning disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
attention deficit hyperactivity disorder; reading disability Gene SetFrom GAD Gene-Disease Associations genes associated with the disease attention deficit hyperactivity disorder; reading disability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
disability Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term disability in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Relative hand skill in reading disability Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Relative hand skill in reading disability phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
learning disability Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease learning disability in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
specific learning disability Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the specific learning disability phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
specific learning disability Gene SetFrom HPO Gene-Disease Associations genes associated with the specific learning disability phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Specific Learning Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Specific Learning Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vision Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vision Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neurological Disability Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neurological Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Learning disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Learning disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Specific learning disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Specific learning disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
KCNQ3-related developmental disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the KCNQ3-related developmental disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
KCNQ3-related Autism and developmental disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the KCNQ3-related Autism and developmental disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neurodevelopmental Disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurodevelopmental Disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PUM1-associated developmental disability-ataxia-seizure syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PUM1-associated developmental disability-ataxia-seizure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TCF7L2-relatedIntellectual disability Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TCF7L2-relatedIntellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Disability (impaired activities of daily living) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Disability (impaired activities of daily living) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Reading disability Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Reading disability phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Reading disability or specific language impairment (pleiotropy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Reading disability or specific language impairment (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Reading disability or specific language impairment adjusted for intelligence quotient (pleiotropy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Reading disability or specific language impairment adjusted for intelligence quotient (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Relative hand skill in reading disability Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Relative hand skill in reading disability phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Deafness, cochlear, with myopia and intellectual impairment Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, cochlear, with myopia and intellectual impairment phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
intellectual Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term intellectual in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Profound Intellectual Disabilities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Profound Intellectual Disabilities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intellectual Developmental Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intellectual Developmental Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal dominant intellectual developmental disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant intellectual developmental disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 5 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant intellectual developmental disorder 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 29 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant intellectual developmental disorder 29 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 35 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant intellectual developmental disorder 35 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hyperphosphatasia with impaired intellectual development syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hyperphosphatasia with impaired intellectual development syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal recessive intellectual developmental disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive intellectual developmental disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked intellectual developmental disorder 109 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked intellectual developmental disorder 109 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 43 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant intellectual developmental disorder 43 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hyperphosphatasia with impaired intellectual development syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyperphosphatasia with impaired intellectual development syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive intellectual developmental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 35 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 35 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 13 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
alacrima, achalasia, and impaired intellectual development syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alacrima, achalasia, and impaired intellectual development syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyperphosphatasia with impaired intellectual development syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyperphosphatasia with impaired intellectual development syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyperphosphatasia with impaired intellectual development syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyperphosphatasia with impaired intellectual development syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyperphosphatasia with impaired intellectual development syndrome 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyperphosphatasia with impaired intellectual development syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyperphosphatasia with impaired intellectual development syndrome 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyperphosphatasia with impaired intellectual development syndrome 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyperphosphatasia with impaired intellectual development syndrome 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyperphosphatasia with impaired intellectual development syndrome 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyperphosphatasia with impaired intellectual development syndrome 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyperphosphatasia with impaired intellectual development syndrome 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 56 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 56 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 41 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 41 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 22 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 22 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 21 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
blepharophimosis-impaired intellectual development syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease blepharophimosis-impaired intellectual development syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual developmental disorder with short stature and behavioral abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with short stature and behavioral abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked intellectual developmental disorder 108 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked intellectual developmental disorder 108 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 42 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 42 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual developmental disorder with cardiac arrhythmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with cardiac arrhythmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive intellectual developmental disorder 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 38 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 38 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked intellectual developmental disorder 109 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked intellectual developmental disorder 109 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 44 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 44 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 43 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 43 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 50 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 50 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 23 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cleft palate, cardiac defects, and intellectual disabillity Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cleft palate, cardiac defects, and intellectual disabillity in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive intellectual developmental disorder 43 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 43 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 48 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 48 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 29 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 29 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Syndromic X-linked intellectual developmental disorder bain type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual developmental disorder bain type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive intellectual developmental disorder 41 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 41 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 36 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 36 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 52 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 52 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive intellectual developmental disorder 59 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 59 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 51 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 51 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 40 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 40 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive intellectual developmental disorder 13 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 55 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 55 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-syndromic X-linked intellectual developmental disorder 111 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual developmental disorder 111 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 46 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 46 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive intellectual developmental disorder 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 31 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 31 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive intellectual developmental disorder 69 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 69 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual developmental disorder with ocular anomalies and distinctive facial features Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with ocular anomalies and distinctive facial features in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 54 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 54 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant intellectual developmental disorder 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Impaired intellectual development and distinctive facial features Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Impaired intellectual development and distinctive facial features phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
INTELLECTUAL DEVELOPMENTAL DISOR Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the INTELLECTUAL DEVELOPMENTAL DISOR phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual developmental disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual developmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Blepharophimosis-impaired intellectual development syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Blepharophimosis-impaired intellectual development syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual developmental disorder and retinitis pigmentosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual developmental disorder and retinitis pigmentosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual developmental disorder- Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual developmental disorder- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
USP9X-related intellectual developmental disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the USP9X-related intellectual developmental disorder phenotype from the curated ClinVar Gene-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 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 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. |
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 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 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 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 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. |
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. |
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. |
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. |
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. |
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. |
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 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 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 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. |
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 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. |
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 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 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. |
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 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. |
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 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. |
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 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 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. |
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 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. |
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. |