TPM4, tropomyosin 4, 7171

N. diseases: 48; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders
0.310 Biomarker group BEFREE Together, our findings demonstrate a nonredundant role for TPM4 in platelet biogenesis in humans and mice and reveal that truncating variants in TPM4 cause a previously undescribed dominant Mendelian platelet disorder. 28134622 2017
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders
0.310 Biomarker group GENOMICS_ENGLAND Together, our findings demonstrate a nonredundant role for TPM4 in platelet biogenesis in humans and mice and reveal that truncating variants in TPM4 cause a previously undescribed dominant Mendelian platelet disorder. 28134622 2017