| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | DMP1 | disease | C0342643 | GeneticVariation | 0.8 | orphanet , disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | DMP1 | disease | C0342643 | AlteredExpression | 0.8 | orphanet , disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | DMP1 | disease | C0342643 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | DMP1 | disease | C0342643 | Biomarker | 0.8 | orphanet , disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | ENPP1 | disease | C0342643 | GermlineCausalMutation | 0.37 | orphanet , disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | ENPP1 | disease | C0342643 | GeneticVariation | 0.37 | orphanet , disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | ENPP1 | disease | C0342643 | Biomarker | 0.37 | orphanet , disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | FGF23 | disease | C0342643 | Biomarker | 0.06 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | FGF23 | disease | C0342643 | GeneticVariation | 0.06 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | FGF23 | disease | C0342643 | AlteredExpression | 0.06 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | PTH | disease | C0342643 | Biomarker | 0.02 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | PHEX | disease | C0342643 | AlteredExpression | 0.02 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | PHEX | disease | C0342643 | GeneticVariation | 0.02 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | PHKG2 | disease | C0342643 | GeneticVariation | 0.01 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | NSUN2 | disease | C0342643 | GeneticVariation | 0.01 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | IDUA | disease | C0342643 | GeneticVariation | 0.01 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | SOST | disease | C0342643 | Biomarker | 0.01 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | GALNT3 | disease | C0342643 | Biomarker | 0.01 | disgenet |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 | CTNNB1 | disease | C0342643 | Biomarker | 0.01 | disgenet |
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