autosomal recessive disease Gene Set

Dataset DISEASES Experimental Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (Human Disease Ontology, DOID_0050737)
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8 genes associated with the disease autosomal recessive 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
AGTR2 angiotensin II receptor, type 2 0.197766
AHRR aryl-hydrocarbon receptor repressor 0.126165
IFRD1 interferon-related developmental regulator 1 0.126165
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.052255