NPC1, NPC intracellular cholesterol transporter 1, 4864
N. diseases: 220; N. variants: 212
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 | Clinical Attribute | 1014 | 2689 | 0.100 | None | 1.000 | 9 | 7 | 2015 | 2019 | |||||
|
phenotype | Neoplastic Process | 6626 | 169 | 0.040 | None | 1.000 | 4 | 2009 | 2019 | ||||||
|
phenotype | Laboratory Procedure | 563 | 1418 | 0.100 | None | 1.000 | 2 | 2 | 2012 | 2018 | |||||
|
phenotype | Laboratory Procedure | 545 | 1440 | 0.100 | None | 1.000 | 2 | 2 | 2012 | 2018 | |||||
|
phenotype | Neoplastic Process | 735 | 33 | 0.020 | None | 0.500 | 2 | 1998 | 2017 | ||||||
|
disease | Disease or Syndrome | 1075 | 276 | 0.020 | None | 1.000 | 2 | 2010 | 2011 | ||||||
|
disease | Neoplastic Process | 3669 | 502 | 0.020 | None | 1.000 | 2 | 2008 | 2017 | ||||||
|
phenotype | Laboratory Procedure | 681 | 1322 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Laboratory Procedure | 145 | 234 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Laboratory Procedure | 610 | 1144 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Laboratory Procedure | 272 | 452 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Organism Attribute | 565 | 1138 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
phenotype | Disease or Syndrome | 36 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | |||||||
|
disease | Neoplastic Process | 23 | 0.010 | None | 1.000 | 1 | 1993 | 1993 | |||||||
|
phenotype | Acquired Abnormality | 43 | 2 | 0.010 | None | 1.000 | 1 | 1 | 2013 | 2013 | |||||
|
phenotype | Laboratory Procedure | 283 | 679 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
disease | Disease or Syndrome | 94 | 5 | 0.010 | None | 1.000 | 1 | 1998 | 1998 | ||||||
|
phenotype | Clinical Attribute | 68 | 116 | 0.100 | None | 1.000 | 1 | 2 | 2015 | 2015 | |||||
|
disease | Mental or Behavioral Dysfunction | 87 | 10 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | ||||||
|
phenotype | Laboratory Procedure | 100 | 150 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
disease | Neoplastic Process | 83 | 11 | 0.010 | None | 1.000 | 1 | 2016 | 2016 | ||||||
|
disease | Disease or Syndrome | 3 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | |||||||
|
disease | Neoplastic Process | 87 | 9 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | ||||||
|
disease | Disease or Syndrome | 985 | 56 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | ||||||
|
phenotype | Cell or Molecular Dysfunction | 21 | 0.100 | None | 0 |