Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Chromosome 15, trisomy mosaicism | UROD | phenotype | C2931707 | GeneticVariation | 0.01 | disgenet |
Chromosome 15, trisomy mosaicism | NDN | NA | C2931707 | NA | NA | orphanet |
Chromosome 15, trisomy mosaicism | SNRPN | NA | C2931707 | NA | NA | orphanet |
Chromosome 15, trisomy mosaicism | OCA2 | NA | C2931707 | NA | NA | orphanet |
Chromosome 15, trisomy mosaicism | UBE3A | NA | C2931707 | NA | NA | orphanet |
Chromosome 15, trisomy mosaicism | MAGEL2 | NA | C2931707 | NA | NA | orphanet |
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