O. Von Corven “The Great Library of Alexandria”. Image (obtained from Wikimedia Commons) is in the public domain.
I have a note written on parchment by my ancestor Eliezer, who lived in Alexandra Egypt, in which he describes his father Yitzchak taking him to the grand library in Alexandria Egypt before it was burnt by Julius Caesar. He was awed by the cabinets containing innumerable scrolls lining the halls from floor to ceiling, which he was told contained all of human knowledge. Little did he know! I am his direct and spiritual descendent, and I must share my awe and admiration for a new disease gene compilation in progress by the direct descendent of the library of Alexandria, the National Library of Medicine at NIH in Bethesda, Maryland. It is worth exploring the site. I searched for some of diseases: tyrosinemia II , epidemolysis bullosa, psoriasis, and dyskeratosis congenita. The pages for these diseases rapidly loaded, with a number of entries from a broad range of databases. The page is in the standard ”entrez page” format and has, in addition, links to extensive literature, sequence data, molecular interactions, SNPS, comparative species data, and even a direct link to some blast searches. The pages with cross-species homologies are especially well done. I loved the three-dimensional color pictures of molecules (e.g., psoriasin), which I easily downloaded and put into a power point presentation.
“Clinvar” provides lots of variant sequence information in a single location and allows integration of molecular and clinical findings for patients, students and researchers.
This site is very worth bookmarking and exploring for your diseases of interest.