| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Point Mutation | SALL4 | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | SIN3B | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | CDKN1C | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | HNRNPK | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | UBE3A | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | IGF2 | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | EHMT1 | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | JAG1 | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | WAC | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | PITX1 | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | HMGA2 | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | NOTCH2 | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | KMT2C | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | PURA | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | DYRK1A | NA | C0162735 | NA | NA | orphanet |
| Point Mutation | SIN3A | NA | C0162735 | NA | NA | orphanet |
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