UROS, uroporphyrinogen III synthase, 7390

N. diseases: 58; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 Biomarker disease CTD_human
CUI: C2718078
Disease: Deficiency of Uroporphyrinogen III Synthase
Deficiency of Uroporphyrinogen III Synthase 		0.310 Biomarker disease CTD_human
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.130 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0005741
Disease: Blepharitis
Blepharitis 		0.100 Biomarker disease HPO
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.100 Biomarker disease HPO
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis 		0.100 Biomarker disease HPO
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013592
Disease: Ectropion
Ectropion 		0.100 Biomarker disease HPO
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		0.100 Biomarker group HPO
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		0.100 Biomarker phenotype HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.100 Biomarker group HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 Biomarker disease HPO
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.100 Biomarker group HPO
CUI: C0022573
Disease: Keratoconjunctivitis
Keratoconjunctivitis 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 Biomarker disease HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 Biomarker phenotype HPO
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		0.100 Biomarker disease HPO
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		0.100 Biomarker disease HPO
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 Biomarker phenotype HPO
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.100 Biomarker disease HPO