MAB21L2, mab-21 like 2, 10586

N. diseases: 22; N. variants: 4
Disease: Osteochondrodysplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.020 Biomarker group BEFREE In addition to the eye abnormality, patients with MAB21L2 <sup>R51C/+</sup> mutation also have skeletal dysplasia and intellectual disability. 30375740 2018
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.020 GeneticVariation group BEFREE Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present in all five family members with the disease and appeared de novo in the first affected generation of the three-generational pedigree. 25719200 2015