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 | Skin and Connective Tissue Diseases | Sign or Symptom | 159 | 12 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital Abnormality | 188 | 18 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 42 | 19 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 10 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 12 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 60 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 110 | 13 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 117 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Musculoskeletal Diseases | Finding | 60 | 6 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 64 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 13 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases | Congenital Abnormality | 27 | 4 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 108 | 31 | 0.100 | None | 0 | |||||||||
|
phenotype | Musculoskeletal Diseases | Finding | 25 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 426 | 39 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 417 | 30 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 56 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 14 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 6 | 0.100 | None | 0 | ||||||||||
|
disease | Musculoskeletal Diseases | Anatomical Abnormality | 92 | 8 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | Disease or Syndrome | 8 | 0.100 | None | 0 | |||||||||
|
group | Cardiovascular Diseases | Disease or Syndrome | 925 | 294 | 0.100 | None | 0 | ||||||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Finding | 70 | 13 | 0.100 | None | 0 |