| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
|
0.800 | GeneticVariation | UNIPROT | Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. | 25719200 | 2015 | |||||
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
|
0.800 | GeneticVariation | UNIPROT | Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. | 24906020 | 2014 | |||||
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
|
0.800 | CausalMutation | CLINVAR | ||||||||
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
|
0.800 | GeneticVariation | CLINVAR | ||||||||
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
|
0.800 | CausalMutation | CLINVAR | ||||||||
Eye Abnormalities
|
0.010 | GeneticVariation | BEFREE | MAB21L2(R51C) is one of the five documented MAB21L2 mutations in human patients with bilateral eye malformations identified via whole exome sequencing. | 30375740 | 2018 | |||||
Osteochondrodysplasias
|
0.010 | GeneticVariation | 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 | |||||
Skeletal dysplasia
|
0.010 | GeneticVariation | 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 | |||||
Microphthalmia and mental deficiency
|
0.010 | GeneticVariation | BEFREE | Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. | 24906020 | 2014 | |||||
Anophthalmos
|
0.010 | GeneticVariation | BEFREE | Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. | 24906020 | 2014 | |||||
Microphthalmos co-occurrent with congenital ocular coloboma
|
0.010 | GeneticVariation | BEFREE | Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. | 24906020 | 2014 |