. . . . . . . . . . . . "[Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-02-21"^^ . "2015-08-25T14:37:42+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .