TY - JOUR
AU1 - Antonarakis, Stylianos E.
AU2 - McKusick, Victor A.
AB - © 2000 Nature America Inc. • http://genetics.nature.com correspondence blood group associated with resistance to OMIM passes the 1,000- malaria (110700.0001) and the AV of CCR5 associated with resistance to HIV disease-gene mark infection (601373.0001). There is also an effort to catalogue all distinct phenotypes related to a particular gene. There are 1,429 phenotypes associ- n 2 February 2000, OMIM reached tions in a gene causing different disorders, ated with the 1,014 genes with AVs (as of O 1,000 gene entries containing at for example RET, causing Hirschsprung dis- 15 March 2000). If one excludes the 69 least one allelic variant (AV) identified ease (164761.0014), multiple endocrine genes with only polymorphisms, there as the cause of, or associated with, a rec- neoplasia type IIA (164761.0001) or type IIB are, on average, 1.4 phenotypes per gene. ognizable human phenotype. (164761.0013) and familial medullary thy- We also determined the number of gene OMIM, the on-line version of roid carcinoma (164766.0025); (iv) muta- entries with AVs that contain the listed 1,2 Mendelian Inheritance in Man , is a tions in the same gene causing a phenotype keywords (Table 1), reflecting the range of catalogue of human genes and genetic with different modes of 
TI - OMIM passes the 1,000-disease-gene mark
JF - Nature Genetics
DO - 10.1038/75497
DA - 2000-05-01
UR - https://www.deepdyve.com/lp/springer-journals/omim-passes-the-1-000-disease-gene-mark-cKYej8OHbk
SP - 11
EP - 11
VL - 25
IS - 1
DP - DeepDyve
ER -