| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | L1CAM | disease | C0795953 | Biomarker | 1 | orphanet , disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | L1CAM | disease | C0795953 | GeneticVariation | 1 | orphanet , disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | L1CAM | disease | C0795953 | CausalMutation | 1 | orphanet , disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | PLP1 | disease | C0795953 | Biomarker | 0.04 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | PLP1 | disease | C0795953 | GeneticVariation | 0.04 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | ENOPH1 | disease | C0795953 | Biomarker | 0.03 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | PDXP | disease | C0795953 | GeneticVariation | 0.03 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | ENOPH1 | disease | C0795953 | GeneticVariation | 0.03 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | PRDX5 | disease | C0795953 | GeneticVariation | 0.03 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | PTHLH | disease | C0795953 | GeneticVariation | 0.03 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | F8 | disease | C0795953 | GeneticVariation | 0.01 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | KRIT1 | disease | C0795953 | GeneticVariation | 0.01 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | CALM1 | disease | C0795953 | GeneticVariation | 0.01 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | CANX | disease | C0795953 | GeneticVariation | 0.01 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | CALM2 | disease | C0795953 | GeneticVariation | 0.01 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | CAMKMT | disease | C0795953 | GeneticVariation | 0.01 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | F7 | disease | C0795953 | Biomarker | 0.01 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | ASRGL1 | disease | C0795953 | Biomarker | 0.01 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | RNF6 | disease | C0795953 | GeneticVariation | 0.01 | disgenet |
| MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome | CALM3 | disease | C0795953 | GeneticVariation | 0.01 | disgenet |
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