| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Ichthyosis follicularis atrichia photophobia syndrome | MBTPS2 | disease | C1839988 | GermlineCausalMutation | 0.74 | disgenet |
| Ichthyosis follicularis atrichia photophobia syndrome | MBTPS2 | disease | C1839988 | CausalMutation | 0.74 | disgenet |
| Ichthyosis follicularis atrichia photophobia syndrome | MBTPS2 | disease | C1839988 | Biomarker | 0.74 | disgenet |
| Ichthyosis follicularis atrichia photophobia syndrome | MBTPS2 | disease | C1839988 | GeneticVariation | 0.74 | disgenet |
| Ichthyosis follicularis atrichia photophobia syndrome | GJB2 | disease | C1839988 | CausalMutation | 0.1 | disgenet |
| Ichthyosis follicularis atrichia photophobia syndrome | SAT1 | disease | C1839988 | GeneticVariation | 0.01 | disgenet |
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