Pathology

 mutations in Hirschsprung disease
 mutations in MEN2A

• RET634: association MENA-renal dysplasia (#12606135#)

 mutations in MEN2B
 mutations in familial medullary thryoid carcinoma (FMTC)
 mutations in unilateral renal agenesis (#11454140#)
 mutationsd in congenital central hypoventilation syndrome (CCHS) (MIM.209880) isolated or with total colonic aganglionosis

 fusion gene creation

• RET/PTC1 (papillary thyroid carcinoma)
• RET/PTC2 (papillary thyroid carcinoma)
• RET/PTC3 (papillary thyroid carcinoma)
• RET/PTC8 (papillary thyroid carcinoma)
• RET/PCM1 (papillary thyroid carcinoma)
• RET/RFG8 (papillary thyroid carcinoma)

See also

 RET-associated diseases

References

 Putzer BM, Drosten M. The RET proto-oncogene: a potential target for molecular cancer therapy. Trends Mol Med. 2004 Jul;10(7):351-7. PMID: #15242684#

 Lee DC, Chan KW, Chan SY. RET receptor tyrosine kinase isoforms in kidney function and disease. Oncogene. 2002 Aug 15;21(36):5582-92. PMID: #12165857#

 Manie S, Santoro M, Fusco A, Billaud M. The RET receptor: function in development and dysfunction in congenital malformation. Trends Genet. 2001 Oct;17(10):580-9. PMID: #11585664#

 de Graaff E, Srinivas S, Kilkenny C, D'Agati V, Mankoo BS, Costantini F, Pachnis V. Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis. Genes Dev. 2001 Sep 15;15(18):2433-44. PMID: #11562352#

 Manie S, Santoro M, Fusco A, Billaud M. The RET receptor: function in development and dysfunction in congenital malformation. Trends Genet. 2001 Oct;17(10):580-9. PMID: #11585664#