METTL5, methyltransferase like 5, 29081

N. diseases: 4; N. variants: 0
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.310 Biomarker disease GENOMICS_ENGLAND Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. 31564433 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND Here, through ES of a large cohort of individuals with ID, we identified two bi-allelic frameshift variants in METTL5, c.344_345delGA (p.Arg115Asnfs<sup>∗</sup>19) and c.571_572delAA (p.Lys191Valfs<sup>∗</sup>10), in families of Pakistani and Yemenite origin. 31564433 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. 31564433 2019
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. 31564433 2019