PPP2R5D
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | PPP2R5D |
| GeneCards | PPP2R5D |
| Diseases | PPP2R5D |
| wikipedia | PPP2R5D |
| PPP2R5D | |
| gopubmed | PPP2R5D |
| EVS | PPP2R5D |
| HEFalMp | PPP2R5D |
| MyGene2 | PPP2R5D |
| 23andMe | PPP2R5D |
| # SNPs | 8 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1064794719 | 0 | 43,007,960 | |
| rs757369209 | 0 | 43,006,514 | |
| rs863225079 | 8 | 43,007,271 | |
| rs863225080 | 8 | 43,009,328 | |
| rs863225081 | 8 | 43,007,262 | |
| rs863225082 | 8 | 43,007,265 | |
| rs869320691 | 0 | 43,007,292 | |
| rs876657383 | 0 | 43,007,275 |
[PMID 26576547
] De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
Facebook page for caregivers: [1]
News post: [2]
