KBTBD13, kelch repeat and BTB domain containing 13, 390594
N. diseases: 55; N. variants: 5
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 | 72 | 2 | 0.010 | None | 1.000 | 1 | 2020 | 2020 | ||||||
|
phenotype | Finding | 473 | 62 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 73 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 76 | 7 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 112 | 18 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 29 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 182 | 12 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 14 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 87 | 6 | 0.100 | None | 0 | |||||||||
|
disease | Disease or Syndrome | 21 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 30 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 50 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 44 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 165 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 33 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 55 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 15 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 14 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 299 | 0.100 | None | 0 | ||||||||||
|
group | Cardiovascular Diseases | Disease or Syndrome | 925 | 294 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | 198 | 33 | 0.100 | None | 0 | ||||||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Finding | 590 | 77 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Anatomical Abnormality | 213 | 2 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | 40 | 21 | 0.100 | None | 0 | ||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | Congenital Abnormality | 497 | 70 | 0.100 | None | 0 |