MTAP, methylthioadenosine phosphorylase, 4507

N. diseases: 167; N. variants: 19
Disease: Diaphyseal medullary stenosis with malignant fibrous histiocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862177
Disease: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diaphyseal medullary stenosis with malignant fibrous histiocytoma 		0.600 Biomarker disease GENOMICS_ENGLAND We now demonstrate that DMS-MFH results from mutations in the most proximal of three previously uncharacterized terminal exons of the gene encoding methylthioadenosine phosphorylase, MTAP. 22464254 2012
CUI: C1862177
Disease: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diaphyseal medullary stenosis with malignant fibrous histiocytoma 		0.600 Biomarker disease CTD_human
CUI: C1862177
Disease: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diaphyseal medullary stenosis with malignant fibrous histiocytoma 		0.600 GermlineCausalMutation disease ORPHANET
CUI: C1862177
Disease: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diaphyseal medullary stenosis with malignant fibrous histiocytoma 		0.600 Biomarker disease GENOMICS_ENGLAND