Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 Biomarker disease HPO
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 Biomarker disease CTD_human
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.950 Biomarker disease CTD_human
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.950 CausalMutation disease CLINVAR
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.950 Biomarker disease GENOMICS_ENGLAND
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		0.930 Biomarker disease GENOMICS_ENGLAND
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		0.930 Biomarker disease CTD_human
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		0.930 CausalMutation disease CLINVAR
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.610 CausalMutation disease CLINVAR
CUI: C2673477
Disease: Hypophosphatasia, Perinatal Lethal
Hypophosphatasia, Perinatal Lethal 		0.600 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.450 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.110 Biomarker phenotype HPO
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		0.110 Biomarker phenotype HPO
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.110 Biomarker disease HPO
CUI: C0035579
Disease: Rickets
Rickets 		0.110 Biomarker disease HPO
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		0.110 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0003123
Disease: Anorexia
Anorexia 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 Biomarker disease HPO
CUI: C0011334
Disease: Dental caries
Dental caries 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO