haploinsufficiency

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Gene Set

Results for "haploinsufficiency": 7 gene sets

Name
haploinsufficiency Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term haploinsufficiency in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
Ctla4 Haploinsufficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ctla4 Haploinsufficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Rubinstein-Taybi syndrome due to EP300 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene Set From 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.
A20 haploinsufficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the A20 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
ACTB Haploinsufficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the ACTB Haploinsufficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.