ACD, ACD shelterin complex subunit and telomerase recruitment factor, 65057
N. diseases: 96; N. variants: 7
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 | 1 | 2 | 0.700 | None | 1.000 | 2 | 2 | 2014 | 2014 | |||||
|
phenotype | Acquired Abnormality | 43 | 2 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | ||||||
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phenotype | Disease or Syndrome | 12 | 0.010 | None | 1.000 | 1 | 1998 | 1998 | |||||||
|
disease | Disease or Syndrome | 4 | 8 | 0.010 | None | 1.000 | 1 | 2002 | 2002 | ||||||
|
disease | Anatomical Abnormality | 67 | 0.010 | None | 1.000 | 1 | 2019 | 2019 | |||||||
|
disease | Neoplastic Process | 14 | 0.010 | None | 1.000 | 1 | 2019 | 2019 | |||||||
|
phenotype | Sign or Symptom | 116 | 7 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 33 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 1127 | 292 | 0.100 | None | 0 | |||||||||
|
disease | Mental or Behavioral Dysfunction | 1825 | 553 | 0.100 | None | 0 | |||||||||
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phenotype | Finding | 59 | 15 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 64 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 85 | 7 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 108 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 137 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 1010 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 427 | 32 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 16 | 0.100 | None | 0 | ||||||||||
|
disease | Disease or Syndrome | 6 | 0.100 | None | 0 | ||||||||||
|
phenotype | Anatomical Abnormality | 25 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 1 | 2 | 0.100 | None | 0 | 2 | ||||||||
|
disease | Disease or Syndrome | 271 | 13 | 0.100 | None | 0 | |||||||||
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group | Cardiovascular Diseases | Disease or Syndrome | 1756 | 711 | 0.010 | None | 1.000 | 1 | 2011 | 2011 | |||||
|
group | Cardiovascular Diseases | Disease or Syndrome | 2322 | 1085 | 0.010 | None | 1.000 | 1 | 2019 | 2019 | |||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 757 | 47 | 0.020 | None | 1.000 | 2 | 2004 | 2017 |