ALMS1, ALMS1 centrosome and basal body associated protein, 7840
N. diseases: 147; N. variants: 195
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 | Diagnostic Procedure | 399 | 1033 | 0.100 | None | 1.000 | 4 | 5 | 2016 | 2019 | |||||
|
phenotype | Laboratory Procedure | 124 | 243 | 0.100 | None | 1.000 | 2 | 2 | 2016 | 2017 | |||||
|
phenotype | Laboratory Procedure | 483 | 1142 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 563 | 1418 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 89 | 111 | 0.100 | None | 1.000 | 1 | 1 | 2011 | 2011 | |||||
|
disease | Disease or Syndrome | 6 | 0.010 | None | 1.000 | 1 | 2015 | 2015 | |||||||
|
phenotype | Laboratory Procedure | 545 | 1440 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 283 | 679 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 269 | 555 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Finding | 89 | 111 | 0.100 | None | 1.000 | 1 | 1 | 2011 | 2011 | |||||
|
phenotype | Laboratory Procedure | 433 | 3282 | 0.100 | None | 1.000 | 1 | 1 | 2011 | 2011 | |||||
|
phenotype | Mental Process | 854 | 2127 | 0.100 | None | 1.000 | 1 | 2 | 2018 | 2018 | |||||
|
phenotype | Neoplastic Process | 384 | 40 | 0.010 | None | 1.000 | 1 | 2005 | 2005 | ||||||
|
phenotype | Laboratory Procedure | 486 | 1243 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Finding | 25 | 8 | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | |||||
|
disease | Disease or Syndrome | 384 | 40 | 0.010 | None | 1.000 | 1 | 2005 | 2005 | ||||||
|
disease | Disease or Syndrome | 29 | 41 | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | |||||
|
phenotype | Finding | 88 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 129 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 1127 | 292 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 64 | 4 | 0.100 | None | 0 | |||||||||
|
disease | Mental or Behavioral Dysfunction | 1825 | 553 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 77 | 11 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 212 | 9 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 11 | 4 | 0.300 | strong | 0 |