monogenic disease Gene Set

Dataset DISEASES Experimental Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). (Human Disease Ontology, DOID_0050177)
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Genes

11 genes associated with the disease monogenic disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
HBG1 hemoglobin, gamma A 1.06123
HBS1L HBS1-like translational GTPase 0.790827
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 0.724323
APIP APAF1 interacting protein 0.63207
SLC22A23 solute carrier family 22, member 23 0.368757
CTH cystathionine gamma-lyase 0.327313
TSPYL4 TSPY-like 4 0.274608
AGTR2 angiotensin II receptor, type 2 0.197766
IFRD1 interferon-related developmental regulator 1 0.126165
AHRR aryl-hydrocarbon receptor repressor 0.126165
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.052255