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.

Genes by name

Name
A2M
A2ML1
A4GALT
AAA1
AAAS
AAGAB
AANAT
AARS
AARS2
AASS
AAT1
ABAT
ABCA1
ABCA12
ABCA3
ABCA4
ABCA5
ABCA7
ABCB1
ABCB11