PMC:1852721 / 7104-8595
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1852721","sourcedb":"PMC","sourceid":"1852721","source_url":"https://www.ncbi.nlm.nih.gov/pmc/1852721","text":"The practice of separate entries for genes and phenotypes was initiated, in large part, to handle the issues of one phenotype–several genes and of one gene–several phenotypes. Entries describing phenotypes for which the mutational basis has been found in one or more genes are flagged with a number sign (#) preceding the unique entry number, and the initial paragraph indicates the entry number of the gene(s) in which the mutation(s) is described. Gene entries have an asterisk preceding the unique number. Entries that contain both phenotype and gene information are flagged with a plus sign (+); X-linked examples include HPRT (MIM +308000), G6PD (MIM +305900), and HEMA (MIM +306700). Beginning in 2004, other Mendelizing phenotypes, regardless of whether they have been mapped, have been denoted by a percent sign (%) preceding the entry number when the causative gene has not yet been identified and cloned. Table 1 presents current statistics on these several categories of entries.\nTable 1 OMIM Statistics as of January 29, 2007\nNo. of Entries by Category\nEntry Classification Autosomal X Linked Y Linked Mitochondrial Total\n* Gene with known sequence 10,644 495 48 37 11,224\n+ Gene with known sequence and phenotype 356 32 0 0 388\n# Phenotype description, molecular basis known 1,851 169 2 26 2,048\n% Mendelian phenotype or locus, molecular basis unknown 1,411 134 4 0 1,550\nOther, mainly phenotypes with suspected Mendelian basis 2,014 144 2 0 2,160\n Total 16,276 974 56 63 17,370","divisions":[{"label":"label","span":{"begin":991,"end":998}},{"label":"caption","span":{"begin":999,"end":1037}},{"label":"p","span":{"begin":999,"end":1037}},{"label":"tr","span":{"begin":1038,"end":1064}},{"label":"th","span":{"begin":1038,"end":1064}},{"label":"tr","span":{"begin":1065,"end":1133}},{"label":"th","span":{"begin":1065,"end":1085}},{"label":"th","span":{"begin":1086,"end":1095}},{"label":"th","span":{"begin":1096,"end":1104}},{"label":"th","span":{"begin":1105,"end":1113}},{"label":"th","span":{"begin":1114,"end":1127}},{"label":"th","span":{"begin":1128,"end":1133}},{"label":"tr","span":{"begin":1134,"end":1184}},{"label":"td","span":{"begin":1134,"end":1160}},{"label":"td","span":{"begin":1161,"end":1167}},{"label":"td","span":{"begin":1168,"end":1171}},{"label":"td","span":{"begin":1172,"end":1174}},{"label":"td","span":{"begin":1175,"end":1177}},{"label":"td","span":{"begin":1178,"end":1184}},{"label":"tr","span":{"begin":1185,"end":1240}},{"label":"td","span":{"begin":1185,"end":1225}},{"label":"td","span":{"begin":1226,"end":1229}},{"label":"td","span":{"begin":1230,"end":1232}},{"label":"td","span":{"begin":1233,"end":1234}},{"label":"td","span":{"begin":1235,"end":1236}},{"label":"td","span":{"begin":1237,"end":1240}},{"label":"tr","span":{"begin":1241,"end":1308}},{"label":"td","span":{"begin":1241,"end":1287}},{"label":"td","span":{"begin":1288,"end":1293}},{"label":"td","span":{"begin":1294,"end":1297}},{"label":"td","span":{"begin":1298,"end":1299}},{"label":"td","span":{"begin":1300,"end":1302}},{"label":"td","span":{"begin":1303,"end":1308}},{"label":"tr","span":{"begin":1309,"end":1384}},{"label":"td","span":{"begin":1309,"end":1364}},{"label":"td","span":{"begin":1365,"end":1370}},{"label":"td","span":{"begin":1371,"end":1374}},{"label":"td","span":{"begin":1375,"end":1376}},{"label":"td","span":{"begin":1377,"end":1378}},{"label":"td","span":{"begin":1379,"end":1384}},{"label":"tr","span":{"begin":1385,"end":1460}},{"label":"td","span":{"begin":1385,"end":1440}},{"label":"td","span":{"begin":1441,"end":1446}},{"label":"td","span":{"begin":1447,"end":1450}},{"label":"td","span":{"begin":1451,"end":1452}},{"label":"td","span":{"begin":1453,"end":1454}},{"label":"td","span":{"begin":1455,"end":1460}},{"label":"td","span":{"begin":1461,"end":1467}},{"label":"td","span":{"begin":1468,"end":1474}},{"label":"td","span":{"begin":1475,"end":1478}},{"label":"td","span":{"begin":1479,"end":1481}},{"label":"td","span":{"begin":1482,"end":1484}}],"tracks":[]}