SMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1, 23347
N. diseases: 80; N. variants: 35
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 | Organism Attribute | 1903 | 3972 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
group | Congenital Abnormality | 126 | 6 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | ||||||
|
phenotype | Finding | 11 | 2 | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
disease | Congenital Abnormality | 439 | 617 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | ||||||
|
phenotype | Mental Process | 854 | 2127 | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | |||||
|
phenotype | Finding | 265 | 23 | 0.100 | None | 1.000 | 1 | 2 | 2017 | 2017 | |||||
|
phenotype | Sign or Symptom | 5 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 73 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 228 | 43 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 130 | 12 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathologic Function | 306 | 12 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 22 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 228 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 70 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 39 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 4 | 0.100 | None | 0 | ||||||||||
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phenotype | Anatomical Abnormality | 1 | 0.100 | None | 0 | ||||||||||
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disease | Congenital Abnormality | 5 | 1 | 0.100 | None | 0 | |||||||||
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disease | Congenital Abnormality | 97 | 7 | 0.100 | None | 0 | |||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 2 | 0.140 | None | 1.000 | 4 | 2017 | 2019 | ||||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 1098 | 73 | 0.020 | None | 1.000 | 2 | 2017 | 2018 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 237 | 0.100 | None | 0 | |||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Congenital Abnormality | 198 | 13 | 0.100 | None | 0 | ||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Congenital Abnormality | 89 | 6 | 0.100 | None | 0 | ||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Congenital Abnormality | 129 | 21 | 0.100 | None | 0 |