| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Familial Primary Pulmonary Hypertension | BMPR2 | disease | C0340543 | Biomarker | 0.7 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | BMPR2 | disease | C0340543 | GeneticVariation | 0.7 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | BMPR2 | disease | C0340543 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | BMPR2 | disease | C0340543 | AlteredExpression | 0.7 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | KCNK3 | disease | C0340543 | GeneticVariation | 0.64 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | CAV1 | disease | C0340543 | Biomarker | 0.64 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | KCNK3 | disease | C0340543 | GermlineCausalMutation | 0.64 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | CAV1 | disease | C0340543 | GermlineCausalMutation | 0.64 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | KCNK3 | disease | C0340543 | Biomarker | 0.64 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | CAV1 | disease | C0340543 | GeneticVariation | 0.64 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | SMAD9 | disease | C0340543 | GermlineCausalMutation | 0.63 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | SMAD9 | disease | C0340543 | Biomarker | 0.63 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | SMAD9 | disease | C0340543 | GeneticVariation | 0.63 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | ACVRL1 | disease | C0340543 | GeneticVariation | 0.56 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | ACVRL1 | disease | C0340543 | Biomarker | 0.56 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | EIF2AK4 | disease | C0340543 | GeneticVariation | 0.52 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | ENG | disease | C0340543 | GeneticVariation | 0.52 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | EIF2AK4 | disease | C0340543 | Biomarker | 0.52 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | EIF2AK4 | disease | C0340543 | GermlineCausalMutation | 0.52 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | ENG | disease | C0340543 | Biomarker | 0.52 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | TBX4 | disease | C0340543 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | TBX4 | disease | C0340543 | Biomarker | 0.5 | orphanet , disgenet |
| Familial Primary Pulmonary Hypertension | SMAD4 | disease | C0340543 | Biomarker | 0.3 | disgenet |
| Familial Primary Pulmonary Hypertension | SMAD1 | disease | C0340543 | Biomarker | 0.3 | disgenet |
| Familial Primary Pulmonary Hypertension | SOX17 | disease | C0340543 | Biomarker | 0.3 | disgenet |
| Familial Primary Pulmonary Hypertension | HDAC1 | disease | C0340543 | Biomarker | 0.3 | disgenet |
| Familial Primary Pulmonary Hypertension | HDAC5 | disease | C0340543 | Biomarker | 0.3 | disgenet |
| Familial Primary Pulmonary Hypertension | AQP1 | disease | C0340543 | Biomarker | 0.3 | disgenet |
| Familial Primary Pulmonary Hypertension | GDF2 | disease | C0340543 | Biomarker | 0.3 | disgenet |
| Familial Primary Pulmonary Hypertension | ATP13A3 | disease | C0340543 | Biomarker | 0.3 | disgenet |
| Familial Primary Pulmonary Hypertension | HDAC4 | disease | C0340543 | Biomarker | 0.3 | disgenet |
| Familial Primary Pulmonary Hypertension | SRC | disease | C0340543 | GeneticVariation | 0.02 | disgenet |
| Familial Primary Pulmonary Hypertension | PAH | disease | C0340543 | GeneticVariation | 0.02 | disgenet |
| Familial Primary Pulmonary Hypertension | SRC | disease | C0340543 | AlteredExpression | 0.02 | disgenet |
| Familial Primary Pulmonary Hypertension | PAH | disease | C0340543 | Biomarker | 0.02 | disgenet |
| Familial Primary Pulmonary Hypertension | FBN1 | disease | C0340543 | Biomarker | 0.01 | disgenet |
| Familial Primary Pulmonary Hypertension | MIR21 | disease | C0340543 | Biomarker | 0.01 | disgenet |
| Familial Primary Pulmonary Hypertension | PLA1A | disease | C0340543 | AlteredExpression | 0.01 | disgenet |
| Familial Primary Pulmonary Hypertension | CXCL8 | disease | C0340543 | Biomarker | 0.01 | disgenet |
| Familial Primary Pulmonary Hypertension | HBG2 | disease | C0340543 | Biomarker | 0.01 | disgenet |
| Familial Primary Pulmonary Hypertension | IL6 | disease | C0340543 | Biomarker | 0.01 | disgenet |
| Familial Primary Pulmonary Hypertension | EDNRB | disease | C0340543 | AlteredExpression | 0.01 | disgenet |
| Familial Primary Pulmonary Hypertension | TGFB1 | disease | C0340543 | Biomarker | 0.01 | disgenet |
| Familial Primary Pulmonary Hypertension | MIR27A | disease | C0340543 | Biomarker | 0.01 | disgenet |
| Familial Primary Pulmonary Hypertension | PRM3 | disease | C0340543 | GeneticVariation | 0.01 | disgenet |
| Familial Primary Pulmonary Hypertension | FLNA | disease | C0340543 | GeneticVariation | 0.01 | disgenet |
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