FARS2, phenylalanyl-tRNA synthetase 2, mitochondrial, 10667
N. diseases: 89; N. variants: 27
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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
disease | Disease or Syndrome | 1 | 15 | 0.730 | strong | 1.000 | 12 | 15 | 2012 | 2019 | |||||
|
disease | Disease or Syndrome | 1 | 5 | 0.700 | None | 1.000 | 3 | 5 | 2015 | 2017 | |||||
|
phenotype | Laboratory Procedure | 593 | 988 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
phenotype | Laboratory or Test Result | 593 | 988 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
phenotype | Finding | 218 | 11 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 473 | 62 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 14 | 0.100 | None | 0 | ||||||||||
|
disease | Disease or Syndrome | 12 | 0.100 | None | 0 | ||||||||||
|
phenotype | Pathologic Function | 244 | 40 | 0.100 | None | 0 | |||||||||
|
disease | Mental or Behavioral Dysfunction | 1825 | 553 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Disease or Syndrome | 321 | 67 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 8 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 10 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 165 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 146 | 7 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 319 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 305 | 22 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 427 | 32 | 0.100 | None | 0 | |||||||||
|
disease | Disease or Syndrome | 58 | 20 | 0.100 | None | 0 | |||||||||
|
disease | Disease or Syndrome | 27 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 19 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Anatomical Abnormality | 5 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases | Congenital Abnormality | 48 | 9 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 285 | 44 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 151 | 2 | 0.100 | None | 0 |