CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1858583
Disease: HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA
HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.300 None 1.000 3 3 1999 2008
CUI: C0151731
Disease: Hepatic infarction
Hepatic infarction 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2006 2006
CUI: C0474679
Disease: Serum ceruloplasmin measurement
Serum ceruloplasmin measurement 		phenotype Laboratory Procedure 1 1 0.100 None 1.000 1 1 2012 2012
CUI: C4017428
Disease: CERULOPLASMIN BELFAST PHENOTYPE
CERULOPLASMIN BELFAST PHENOTYPE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0152457
Disease: Kayser-Fleischer ring
Kayser-Fleischer ring 		disease Eye Diseases Disease or Syndrome 2 2 0.100 None 0.909 11 1997 2020
CUI: C2931082
Disease: Familial apoceruloplasmin deficiency
Familial apoceruloplasmin deficiency 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 3 2003 2012
CUI: C2931429
Disease: Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections 		disease Infections; Immune System Diseases; Mental Disorders Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0085397
Disease: Pasteurellaceae Infections
Pasteurellaceae Infections 		group Infections Disease or Syndrome 3 0.300 None 1.000 1 2006 2006
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 3 5 0.010 None 1.000 1 1977 1977
CUI: C0854279
Disease: Basal ganglion degeneration
Basal ganglion degeneration 		disease Disease or Syndrome 3 2 0.010 None 1.000 1 1995 1995
CUI: C0860016
Disease: Fulminant Wilson's disease
Fulminant Wilson's disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2020 2020
CUI: C0235988
Disease: Serum iron low (finding)
Serum iron low (finding) 		phenotype Nutritional and Metabolic Diseases Finding 3 0.100 None 0
CUI: C3888001
Disease: HERMANSKY-PUDLAK SYNDROME 3
HERMANSKY-PUDLAK SYNDROME 3 		disease Disease or Syndrome 5 7 0.100 None 0 3
CUI: C4022891
Disease: Elevated hepatic iron concentration
Elevated hepatic iron concentration 		phenotype Finding 5 0.100 None 0
CUI: C0232766
Disease: Asterixis
Asterixis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 7 0.300 None 1.000 1 2003 2003
CUI: C0454606
Disease: Oral Dyskinesia
Oral Dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2003 2003
CUI: C0752196
Disease: Ballismus
Ballismus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2003 2003
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 51 0.900 None 1.000 42 51 1987 2019
CUI: C0019114
Disease: Hemosiderosis
Hemosiderosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 8 2 0.020 None 1.000 2 1995 1998
CUI: C0338630
Disease: Senile Paranoid Dementia
Senile Paranoid Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 8 0.300 None 1.000 1 2003 2003
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2003 2003
CUI: C0221169
Disease: Hemiballismus
Hemiballismus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2003 2003
CUI: C1833213
Disease: Hyperferritinemia, hereditary, with congenital cataracts
Hyperferritinemia, hereditary, with congenital cataracts 		disease Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 10 10 0.010 None 1.000 1 2005 2005
CUI: C0019188
Disease: Hepatitis, Animal
Hepatitis, Animal 		disease Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome 11 0.200 None 1.000 1 2008 2008
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 12 9 0.010 None 1.000 1 2011 2011