137
edits
Changes
Myeloid Neoplasms with Germline Predisposition (view source)
Revision as of 14:48, 11 January 2021
, 14:48, 11 January 2021→Additional Information
*''GATA2 (OMIM: [https://omim.org/entry/137295 137295])'' has been associated with susceptibility to acute myeloid leukemia (OMIM: [https://www.omim.org/entry/601626 601626])
*''GATA2 (OMIM: [https://omim.org/entry/137295 137295])'' has been associated with susceptibility to acute myeloid leukemia (OMIM: [https://www.omim.org/entry/601626 601626])
*''RUNX1'' ''(OMIM: [https://omim.org/entry/151385 151385])'' has been associated with acute myeloid leukemia (OMIM: [https://www.omim.org/entry/601626 601626]) and familial platelet disorder with associated myeloid malignancy (OMIM: [https://www.omim.org/entry/601399 601399])
*''RUNX1'' ''(OMIM: [https://omim.org/entry/151385 151385])'' has been associated with acute myeloid leukemia (OMIM: [https://www.omim.org/entry/601626 601626]) and familial platelet disorder with associated myeloid malignancy (OMIM: [https://www.omim.org/entry/601399 601399])
*''SAMD9'' ''(OMIM: 610456)'' has been associated with Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy (MIRAGE syndrome, (OMIM: 617053) , <nowiki>https://www.omim.org/entry/617053</nowiki>).
*''SAMD9'' ''(OMIM: [https://omim.org/entry/610456 610456])'' has been associated with Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy (MIRAGE syndrome, (OMIM: [https://www.omim.org/entry/617053 617053])
*''SAMD9L'' ''(OMIM: 611170)'' has been associated with ataxia-pancytopenia syndrome, or myelocerebellar disorder, ataxia-pancytopenia syndrome (OMIM: 159550) , <nowiki>https://www.omim.org/entry/159550</nowiki>).
*''SAMD9L'' ''(OMIM: [https://omim.org/entry/611170 611170])'' has been associated with ataxia-pancytopenia syndrome, or myelocerebellar disorder, ataxia-pancytopenia syndrome (OMIM: [https://www.omim.org/entry/159550 159550])
*''SRP72'' ''(OMIM: 602122)'' has been associated with bone marrow failure syndrome 1 (OMIM: 614675) , <nowiki>https://www.omim.org/entry/614675</nowiki>).
*''SRP72'' ''(OMIM: [https://omim.org/entry/602122 602122])'' has been associated with bone marrow failure syndrome 1 (OMIM: [https://www.omim.org/entry/614675 614675])
*''TP53'' ''(OMIM: 191170)'' has been associated with Li-Fraumeni syndrome (OMIM: 151623) , <nowiki>https://www.omim.org/entry/151623</nowiki>).
*''TP53'' ''(OMIM: [https://omim.org/entry/191170 191170])'' has been associated with Li-Fraumeni syndrome (OMIM: [https://www.omim.org/entry/151623 151623])
*''BLM'' ''(OMIM: 604610)'' has been associated with Bloom syndrome (OMIM: 210900) , <nowiki>https://www.omim.org/entry/210900</nowiki>).
*''BLM'' ''(OMIM: [https://omim.org/entry/604610 604610])'' has been associated with Bloom syndrome (OMIM: [https://www.omim.org/entry/210900 210900])
*Constitutional mismatch repair deficiency (OMIM: 276300) , <nowiki>https://www.omim.org/entry/276300</nowiki>)
*Constitutional mismatch repair deficiency (OMIM: 276300) , <nowiki>https://www.omim.org/entry/276300</nowiki>)
*Neurofibromatosis type I (NF1, OMIM: 162200) , <nowiki>https://www.omim.org/entry/162200</nowiki>)
*Neurofibromatosis type I (NF1, OMIM: 162200) , <nowiki>https://www.omim.org/entry/162200</nowiki>)