Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		0.940 Biomarker disease CTD_human
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		0.940 Biomarker disease GENOMICS_ENGLAND
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		0.940 CausalMutation disease CLINVAR
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		0.940 Biomarker disease GENOMICS_ENGLAND
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.480 Biomarker disease HPO
CUI: C0001916
Disease: Albinism
Albinism 		0.120 Biomarker disease HPO
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.120 Biomarker disease HPO
CUI: C0009319
Disease: Colitis
Colitis 		0.110 Biomarker disease HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.100 Biomarker phenotype HPO
CUI: C0016689
Disease: Freckles
Freckles 		0.100 Biomarker phenotype HPO
CUI: C0017565
Disease: Gingival Hemorrhage
Gingival Hemorrhage 		0.100 Biomarker phenotype HPO
CUI: C0018932
Disease: Hematochezia
Hematochezia 		0.100 Biomarker phenotype HPO
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		0.100 Biomarker phenotype HPO
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.100 Biomarker phenotype HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.100 Biomarker phenotype HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 Biomarker group HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C1859923
Disease: Freckles in sun-exposed areas
Freckles in sun-exposed areas 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO