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 | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Finding | 422 | 0.100 | None | 0 | |||||||||
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group | Infections | Disease or Syndrome | 1471 | 42 | 0.010 | None | 1.000 | 1 | 1983 | 1983 | |||||
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phenotype | Neoplastic Process | 6626 | 169 | 0.060 | None | 1.000 | 6 | 2016 | 2019 | ||||||
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disease | Pathological Conditions, Signs and Symptoms | Disease or Syndrome | 42 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | ||||||
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disease | Respiratory Tract Diseases | Disease or Syndrome | 30 | 2 | 0.100 | None | 0 | ||||||||
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phenotype | Musculoskeletal Diseases | Finding | 25 | 0.100 | None | 0 | |||||||||
|
disease | Endocrine System Diseases | Disease or Syndrome | 104 | 7 | 0.100 | None | 0 | ||||||||
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phenotype | Finding | 40 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Endocrine System Diseases | Disease or Syndrome | 14 | 10 | 0.010 | None | 1.000 | 1 | 2008 | 2008 | |||||
|
disease | Immune System Diseases | Disease or Syndrome | 15 | 2 | 0.010 | None | 1.000 | 1 | 2014 | 2014 | |||||
|
disease | Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | Neoplastic Process | 485 | 24 | 0.010 | None | 1.000 | 1 | 2019 | 2019 | |||||
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phenotype | Finding | 1 | 0.100 | None | 0 | ||||||||||
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disease | Eye Diseases; Nervous System Diseases | Disease or Syndrome | 716 | 89 | 0.100 | None | 0 | ||||||||
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disease | Digestive System Diseases; Neoplasms | Neoplastic Process | 3720 | 652 | 0.010 | None | 1.000 | 1 | 2016 | 2016 | |||||
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phenotype | Pathological Conditions, Signs and Symptoms | Finding | 345 | 19 | 0.100 | None | 0 | ||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Congenital Abnormality | 179 | 61 | 0.100 | None | 0 | ||||||||
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phenotype | Finding | 112 | 9 | 0.100 | None | 0 | |||||||||
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phenotype | Finding | 1 | 0.100 | None | 0 | ||||||||||
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phenotype | Finding | 60 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 68 | 8 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 108 | 31 | 0.100 | None | 0 | |||||||||
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phenotype | Finding | 15 | 0.100 | None | 0 | ||||||||||
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group | Neoplasms; Skin and Connective Tissue Diseases | Neoplastic Process | 363 | 9 | 0.100 | None | 0 | ||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 186 | 65 | 0.040 | None | 1.000 | 4 | 1993 | 2017 | |||||
|
disease | Disease or Syndrome | 49 | 13 | 0.010 | None | 1.000 | 1 | 2006 | 2006 |