TKFC, triokinase and FMN cyclase, 26007

N. diseases: 8; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract 		0.300 Biomarker disease GENOMICS_ENGLAND We postulate that deficiency of TKFC causes disruption of endogenous fructose metabolism leading to generation of by-products that can cause cataract. 32004446 2020
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. 32004446 2020
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. 32004446 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. 32004446 2020
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 Biomarker disease BEFREE This is a study of the effect of DAK as adjuvant therapy when diabetes control is insufficient. 28478093 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 Biomarker group BEFREE This is a study of the effect of DAK as adjuvant therapy when diabetes control is insufficient. 28478093 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE In this randomized, double blind, crossover study conducted in Koror, Palau, DAK or placebo was assigned to 68 patients with type II diabetes treated with oral hypoglycemic agents and with insufficient glycaemic control. 28478093 2017