TWIST1, twist family bHLH transcription factor 1, 7291
N. diseases: 559; N. variants: 31
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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases | Congenital Abnormality | 137 | 13 | 0.100 | None | 0 | ||||||||
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disease | Respiratory Tract Diseases; Nervous System Diseases | Disease or Syndrome | 148 | 18 | 0.100 | None | 0 | ||||||||
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phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Sign or Symptom | 2152 | 553 | 0.100 | None | 0 | ||||||||
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disease | Eye Diseases | Disease or Syndrome | 225 | 12 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 6 | 0.100 | None | 0 | ||||||||||
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phenotype | Finding | 32 | 6 | 0.100 | None | 0 | |||||||||
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disease | Musculoskeletal Diseases | Disease or Syndrome | 850 | 135 | 0.100 | None | 0 | ||||||||
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disease | Digestive System Diseases | Disease or Syndrome | 446 | 52 | 0.100 | None | 0 | ||||||||
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disease | Anatomical Abnormality | 190 | 12 | 0.100 | None | 0 | |||||||||
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phenotype | Finding | 40 | 5 | 0.100 | None | 0 | |||||||||
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phenotype | Finding | 39 | 2 | 0.100 | None | 0 | |||||||||
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disease | Musculoskeletal Diseases | Anatomical Abnormality | 61 | 6 | 0.100 | None | 0 | ||||||||
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phenotype | Finding | 11 | 0.100 | None | 0 | ||||||||||
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phenotype | Finding | 182 | 25 | 0.100 | None | 0 | |||||||||
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phenotype | Finding | 319 | 0.100 | None | 0 | ||||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases | Congenital Abnormality | 725 | 80 | 0.100 | None | 0 | ||||||||
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phenotype | Finding | 71 | 5 | 0.100 | None | 0 | |||||||||
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phenotype | Eye Diseases | Finding | 20 | 4 | 0.100 | None | 0 | ||||||||
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disease | Nervous System Diseases | Finding | 72 | 1 | 0.100 | None | 0 | ||||||||
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phenotype | Disease or Syndrome | 6 | 0.100 | None | 0 | ||||||||||
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group | Nervous System Diseases | Disease or Syndrome | 512 | 264 | 0.100 | None | 0 | ||||||||
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phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
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phenotype | Pathological Conditions, Signs and Symptoms | Finding | 109 | 13 | 0.100 | None | 0 | 1 | |||||||
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phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Finding | 17 | 1 | 0.100 | None | 0 | ||||||||
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disease | Eye Diseases; Nervous System Diseases | Disease or Syndrome | 716 | 89 | 0.100 | None | 0 |