ATP13A3, ATPase 13A3, 79572

N. diseases: 7; N. variants: 2
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.
Familial primary pulmonary hypertension
disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.300 strong 1.000 1 2019 2019
2-oxo-hept-3-ene-1,7-dioate hydratase activity
phenotype Molecular Function 14 0.300 strong 1.000 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2018 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2013 2013
High Grade Cervical Intraepithelial Neoplasia
disease Neoplasms Neoplastic Process 51 1 0.010 None 1.000 1 2013 2013
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2018 2018