CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 108; N. variants: 19
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.
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
disease Disease or Syndrome 1 5 0.900 moderate 1.000 15 5 2003 2019
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
phenotype Anatomical Abnormality 78 37 0.060 None 0.833 6 2004 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 2 2 2016 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 2 2 2016 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2007 2010
CUI: C4021813
Disease: Oral cleft
Oral cleft
disease Congenital Abnormality 85 28 0.020 None 1.000 2 2002 2019
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None < 0.001 1 2012 2012
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2017 2017
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2018 2018
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated
disease Congenital Abnormality 20 2 0.010 None 1.000 1 2011 2011
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality
phenotype Finding 74 1 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0
CUI: C4025009
Disease: Impaired myocardial contractility
Impaired myocardial contractility
disease Disease or Syndrome 2 0.100 None 0
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M
disease Cardiovascular Diseases Disease or Syndrome 1 4 0.900 None 1.000 13 4 1997 2019
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.300 None 1.000 12 1997 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.300 None 1.000 12 1997 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.100 None 1.000 11 3 2003 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.370 None 1.000 10 4 1997 2019
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 773 243 0.100 None 1.000 10 1 2002 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.470 None 1.000 7 4 2011 2019