Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 GeneticVariation BEFREE The chromosome 22 disorder, due to mutations in the nuclear gene TYMP encoding thymidine phosphorylase (TP), leads to the accumulation of thymidine and deoxyuridine, with mitochondrial dysfunction.This report describes a patient with an MNGIE-like syndrome with a heterozygous TYMP mutation who showed marked, but transient improvement postallogeneic haematopoietic stem cell transplantation (HSCT).The patient, showing ptosis and ophthalmoplegia, was initially managed for myasthenia gravis. 28765176

2017

Entrez Id: 1890
Gene Symbol: TYMP
TYMP
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO