RMRP, RNA component of mitochondrial RNA processing endoribonuclease, 6023
N. diseases: 239; N. variants: 77
Source: ALL
Disease | Type | Disease Class | Semantic Type | N. genes d | N. SNPs d | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phenotype | Finding | 215 | 5 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 186 | 20 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 325 | 43 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 37 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 13 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 40 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 10 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Pathological Conditions, Signs and Symptoms; Infections | Disease or Syndrome | 1453 | 144 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 12 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 32 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 429 | 29 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 17 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 43 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 15 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
disease | Mental Disorders | Mental or Behavioral Dysfunction | 1630 | 348 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 13 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 42 | 19 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 16 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 20 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Congenital Abnormality | 179 | 61 | 0.100 | None | 0 | ||||||||
|
phenotype | Musculoskeletal Diseases | Pathologic Function | 224 | 15 | 0.100 | None | 0 | ||||||||
|
phenotype | Nervous System Diseases | Finding | 227 | 27 | 0.100 | None | 0 | ||||||||
|
phenotype | Skin and Connective Tissue Diseases | Sign or Symptom | 159 | 12 | 0.100 | None | 0 | ||||||||
|
phenotype | Musculoskeletal Diseases | Finding | 38 | 13 | 0.100 | None | 0 |