Genes

Rare diseases are linked to a wide variety of genetic causes. Below we list human genes and genetic loci that are known to be involved in copy number, structural/chromosomal, single nucleotide variations that have been causative of rare diseases. Please follow source links on the gene pages to find protein, inheritance and expression information as well as references to PubMed (PMID/PMC) articles.


Name
A2M View Complete info
AAAS View Complete info
AAGAB View Complete info
AARS View Complete info
AARS2 View Complete info
AASS View Complete info
ABAT View Complete info
ABCA1 View Complete info
ABCA12 View Complete info
ABCA3 View Complete info
ABCA4 View Complete info
ABCB11 View Complete info
ABCB4 View Complete info
ABCB6 View Complete info
ABCB7 View Complete info
ABCC2 View Complete info
ABCC6 View Complete info
ABCC8 View Complete info
ABCC9 View Complete info
ABCD4 View Complete info