22q13.3 deletion syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 22q13.3 Deletion Syndrome | C1853490 | INS | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 18948358 | - |
| SHANK3 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11431708, 16284256, 17173049, 21606927, 21841781, 22892527, 23758760, 24132240, 25188300, 26045941, 26725465, 26886798, 27161151, 29719671, 30302388 | - |