SORD, sorbitol dehydrogenase, 6652

N. diseases: 113; N. variants: 6
Disease: Malignant neoplasm of kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		0.030 Biomarker disease BEFREE New entities were described or better characterized, especially in kidney cancer such as hereditary leiomyomatosis renal cell carcinoma (HLRCC), succinate dehydrogenase kidney cancer (SDH-RCC), and more recently BAP1 germline mutation related RCC. 27819754 2017
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		0.030 GeneticVariation disease BEFREE SDH mutation associated renal cell carcinoma can be an aggressive type of kidney cancer, especially in younger individuals. 23083876 2012
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		0.030 GeneticVariation disease BEFREE Germline mutations in FH predispose individuals to leiomyomas and renal cell cancer (HLRCC), whereas mutations in SDH cause paragangliomas and phaeochromocytomas (HPGL). 15987702 2005