CHD7, chromodomain helicase DNA binding protein 7, 55636
N. diseases: 419; N. variants: 247
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 | 55 | 28 | 0.010 | None | 1.000 | 1 | 2019 | 2019 | ||||||
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disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Disease or Syndrome | 1 | 0.010 | None | 1.000 | 1 | 2011 | 2011 | ||||||
|
phenotype | Behavior and Behavior Mechanisms | Mental or Behavioral Dysfunction | 910 | 121 | 0.010 | None | 1.000 | 1 | 2020 | 2020 | |||||
|
disease | Anatomical Abnormality | 5 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 3 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 50 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Finding | 18 | 0.100 | None | 0 | ||||||||||
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disease | Anatomical Abnormality | 22 | 1 | 0.100 | None | 0 | |||||||||
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phenotype | Anatomical Abnormality | 104 | 131 | 0.100 | None | 0 | 1 | ||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Congenital Abnormality | 198 | 13 | 0.100 | None | 0 | 1 | |||||||
|
disease | Anatomical Abnormality | 31 | 0.100 | None | 0 | ||||||||||
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phenotype | Pathologic Function | 42 | 1 | 0.100 | None | 0 | |||||||||
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disease | Anatomical Abnormality | 10 | 0.100 | None | 0 | ||||||||||
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phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | Finding | 140 | 16 | 0.100 | None | 0 | ||||||||
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phenotype | Anatomical Abnormality | 11 | 1 | 0.100 | None | 0 | 1 | ||||||||
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disease | Anatomical Abnormality | 97 | 0.100 | None | 0 | ||||||||||
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disease | Anatomical Abnormality | 95 | 8 | 0.100 | None | 0 | |||||||||
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disease | Anatomical Abnormality | 69 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 14 | 1 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Finding | 64 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 13 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Finding | 127 | 8 | 0.100 | None | 0 | |||||||||
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disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | 2 | 1 | 0.010 | None | 1.000 | 1 | 2008 | 2008 | |||||
|
phenotype | Finding | 24 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 44 | 0.100 | None | 0 |