AP4E1, adaptor related protein complex 4 subunit epsilon 1, 23431
N. diseases: 72; N. variants: 19
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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
group | Infections | Disease or Syndrome | 183 | 14 | 0.010 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||
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disease | Nervous System Diseases | Disease or Syndrome | 241 | 69 | 0.010 | None | 1.000 | 1 | 2011 | 2011 | |||||
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disease | Disease or Syndrome | 3 | 4 | 0.010 | None | 1.000 | 1 | 2019 | 2019 | ||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Sign or Symptom | 13 | 4 | 0.010 | None | 1.000 | 1 | 2 | 2015 | 2015 | ||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome | 123 | 41 | 0.020 | None | 1.000 | 2 | 1 | 2013 | 2019 | ||||
|
phenotype | Finding | 29 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 71 | 13 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 33 | 6 | 0.100 | None | 0 | ||||||||
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phenotype | Finding | 87 | 6 | 0.100 | None | 0 | |||||||||
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phenotype | Finding | 65 | 12 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 106 | 20 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 44 | 6 | 0.100 | None | 0 | |||||||||
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phenotype | Nervous System Diseases | Finding | 410 | 0.100 | None | 0 | |||||||||
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disease | Musculoskeletal Diseases; Wounds and Injuries | Anatomical Abnormality | 128 | 16 | 0.100 | None | 0 | ||||||||
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disease | Disease or Syndrome | 321 | 67 | 0.100 | None | 0 | |||||||||
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disease | Mental or Behavioral Dysfunction | 1825 | 553 | 0.100 | None | 0 | |||||||||
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disease | Anatomical Abnormality | 32 | 4 | 0.100 | None | 0 | |||||||||
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phenotype | Pathological Conditions, Signs and Symptoms | Finding | 27 | 3 | 0.100 | None | 0 | ||||||||
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phenotype | Finding | 6 | 0.100 | None | 0 | ||||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms | Finding | 194 | 33 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 779 | 0.100 | None | 0 | ||||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 147 | 27 | 0.100 | None | 0 | ||||||||
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disease | Disease or Syndrome | 271 | 13 | 0.100 | None | 0 | |||||||||
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phenotype | Finding | 12 | 0.100 | None | 0 | ||||||||||
|
disease | Finding | 64 | 0.100 | None | 0 |