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. 2016 Jul 20;2016:189–198.

Table 1.

Examples of SVBs and DisGeNET query terms used to extract SVB-related diseases and genes potentially involved in perturbation of SVBs

SVB SVB query term used Example Disease Names Example Genes Implicated
Vitamin D “Vitamin_D” Vitamin D Deficiency, Rickets Hereditary Vitamin D-Resistant DHCR7, VDR
Parathyroid hormone “Parathyroid” Pseudo-hypoparathyroidism, Parathyroid Neoplasms GNAS, CDC73
Vitamin C “ascorbic acid” Ascorbic Acid Deficiency GSTK1, HP, SLCO6A1
Vitamin K “Vitamin_K” Vitamin K Deficiency, Vitamin K Dependent Clotting Factors Combined Deficiency GGCX, VKORC1, F7
Neutrophil “Neutrophil” Neutrophil Actin Dysfunction, Hereditary Neutrophilia PARP1, CYBA, CSF3R
Eosinophil “Eosinophil” Eosinophilia, Hyper-eosinophilic Syndrome IL5, FIP1L1, PDGFRA
Hemoglobin “Hemoglobin” Hemoglobinopathies, Methemoglobinemia HBB, CYP1A2, HBA1
Estrogen “Estrogen” Oestrogen deficiency, Estrogen Resistance ESR1, RBBP4, BCAR1, PPP2CA