| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism | KMT2A | disease | C1854630 | GeneticVariation | 0.8 | orphanet , disgenet |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism | KMT2A | disease | C1854630 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism | KMT2A | disease | C1854630 | Biomarker | 0.8 | orphanet , disgenet |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism | KMT2A | disease | C1854630 | CausalMutation | 0.8 | orphanet , disgenet |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism | SMC1A | disease | C1854630 | GeneticVariation | 0.41 | disgenet |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism | SMC1A | disease | C1854630 | GermlineCausalMutation | 0.41 | disgenet |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism | SMC1A | disease | C1854630 | CausalMutation | 0.41 | disgenet |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism | SMC3 | disease | C1854630 | CausalMutation | 0.11 | disgenet |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism | SMC3 | disease | C1854630 | GeneticVariation | 0.11 | disgenet |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism | TASP1 | disease | C1854630 | Biomarker | 0.01 | disgenet |
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