RGD Annotation Report for inherited metabolic disorderRat Genome Database

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An association has been curated linking HSD11B2 and inherited metabolic disorder in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Li A, etal., Am J Hum Genet. 1998 Aug;63(2):370-9.
5 additional annotations were made from Li A, etal., Am J Hum Genet. 1998 Aug;63(2):370-9.
7856 RGD objects have been annotated to inherited metabolic disorder (DOID:655)
19 papers in RGD have been used to annotate HSD11B2
Curation Notes: apparent mineralocorticoid excess syndrome, OMIM:218030; DNA:transition:CDS:945C->T, amino acid R279C

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.