Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 392636
Gene Symbol: AGMO
AGMO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. 31555905

2019
Entrez Id: 392636
Gene Symbol: AGMO
AGMO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND To the best of our knowledge, this is the first evidence of an AGMO mutation underlying primary microcephaly and intellectual disability in humans. 27000257

2016