PKHD1, PKHD1 ciliary IPT domain containing fibrocystin/polyductin, 5314
N. diseases: 115; N. variants: 324
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 | 206 | 573 | 0.100 | None | 1.000 | 2 | 2 | 2014 | 2017 | |||||
|
phenotype | Clinical Attribute | 507 | 1037 | 0.100 | None | 1.000 | 2 | 1 | 2017 | 2017 | |||||
|
disease | Congenital Abnormality | 3 | 0.020 | None | 1.000 | 2 | 2005 | 2015 | |||||||
|
phenotype | Laboratory Procedure | 717 | 1599 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
phenotype | Organ or Tissue Function | 272 | 1169 | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | |||||
|
phenotype | Diagnostic Procedure | 399 | 1033 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
phenotype | Organism Attribute | 130 | 312 | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | |||||
|
phenotype | Organ or Tissue Function | 3 | 13 | 0.100 | None | 1.000 | 1 | 1 | 2014 | 2014 | |||||
|
phenotype | Neoplastic Process | 6626 | 169 | 0.010 | None | 1.000 | 1 | 2019 | 2019 | ||||||
|
phenotype | Clinical Attribute | 1014 | 2689 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
disease | Disease or Syndrome | 297 | 3 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | ||||||
|
phenotype | Organism Function | 131 | 1106 | 0.100 | None | 1.000 | 1 | 3 | 2015 | 2015 | |||||
|
disease | Neoplastic Process | 3669 | 502 | 0.010 | None | 1.000 | 1 | 2011 | 2011 | ||||||
|
disease | Congenital Abnormality | 188 | 18 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 9 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 27 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 117 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 73 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 223 | 19 | 0.100 | None | 0 | |||||||||
|
phenotype | Disease or Syndrome | 328 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 14 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 10 | 2 | 0.100 | None | 0 | 2 | ||||||||
|
disease | Cardiovascular Diseases | Disease or Syndrome | 1760 | 165 | 0.030 | None | 1.000 | 3 | 1 | 2010 | 2019 | ||||
|
group | Cardiovascular Diseases | Disease or Syndrome | 2322 | 1085 | 0.120 | None | 1.000 | 2 | 2012 | 2018 |