CPOX, coproporphyrinogen oxidase, 1371

N. diseases: 246; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria
1.000 CausalMutation disease CLINVAR
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria
0.170 CausalMutation disease CLINVAR
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.110 Biomarker disease HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.110 Biomarker group HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital
0.100 Biomarker disease HPO
CUI: C0003467
Disease: Anxiety
Anxiety
0.100 Biomarker disease HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia
0.100 Biomarker phenotype HPO
CUI: C0009676
Disease: Confusion
Confusion
0.100 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation
0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.100 Biomarker phenotype HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations
0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.100 Biomarker disease HPO
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.100 Biomarker phenotype HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood
0.100 Biomarker phenotype HPO
CUI: C0022346
Disease: Icterus
Icterus
0.100 Biomarker phenotype HPO
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
0.100 Biomarker phenotype HPO
CUI: C0035232
Disease: Respiratory Paralysis
Respiratory Paralysis
0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.100 Biomarker phenotype HPO
CUI: C0039231
Disease: Tachycardia
Tachycardia
0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting
0.100 Biomarker phenotype HPO
CUI: C0231528
Disease: Myalgia
Myalgia
0.100 Biomarker phenotype HPO
CUI: C0233762
Disease: Hallucinations, Auditory
Hallucinations, Auditory
0.100 Biomarker phenotype HPO