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: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 23 2 0.070 None 1.000 7 1997 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2017 2020
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.020 None 1.000 2 2002 2006
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.010 None 1.000 1 2008 2008
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.010 None 1.000 1 2018 2018
CUI: C0474679
Disease: Serum ceruloplasmin measurement
Serum ceruloplasmin measurement 		phenotype Laboratory Procedure 1 1 0.100 None 1.000 1 1 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2016 2016
CUI: C0741923
Disease: cardiac event
cardiac event 		phenotype Disease or Syndrome 82 18 0.010 None 1.000 1 2012 2012
CUI: C0815107
Disease: psychological distress
psychological distress 		disease Mental or Behavioral Dysfunction 87 10 0.010 None 1.000 1 2018 2018
CUI: C0854279
Disease: Basal ganglion degeneration
Basal ganglion degeneration 		disease Disease or Syndrome 3 2 0.010 None 1.000 1 1995 1995
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		phenotype Finding 12 5 0.100 None 0
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin 		phenotype Finding 23 1 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype Finding 109 2 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: C4017428
Disease: CERULOPLASMIN BELFAST PHENOTYPE
CERULOPLASMIN BELFAST PHENOTYPE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4022891
Disease: Elevated hepatic iron concentration
Elevated hepatic iron concentration 		phenotype Finding 5 0.100 None 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		phenotype Finding 108 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2019 2019
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.060 None 1.000 6 2005 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.040 None 1.000 4 2013 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.040 None 1.000 4 2013 2019
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.020 None 1.000 2 2013 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.120 None 1.000 2 2013 2018