CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
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: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 4 2 2010 2019
CUI: C4275181
Disease: Autosomal recessive limb girdle muscular dystrophy type 2A
Autosomal recessive limb girdle muscular dystrophy type 2A 		disease Disease or Syndrome 1 0.030 None 1.000 3 2007 2015
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		phenotype Laboratory Procedure 55 143 0.100 None 1.000 2 2 2016 2017
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		disease Disease or Syndrome 45 3 0.020 None 1.000 2 2011 2015
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		phenotype Laboratory Procedure 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2019 2019
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		phenotype Laboratory or Test Result 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		disease Congenital Abnormality 12 2 0.010 None 1.000 1 1 2003 2003
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1999 1999
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy 		disease Disease or Syndrome 7 19 0.010 None 1.000 1 2000 2000
CUI: C3888204
Disease: ACTN3 DEFICIENCY
ACTN3 DEFICIENCY 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 1997 1997
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2019 2019
CUI: C4724975
Disease: HyperCKmia
HyperCKmia 		disease Disease or Syndrome 2 0.010 None 1.000 1 2007 2007
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		phenotype Finding 15 6 0.100 None 0 2
CUI: C0240953
Disease: Winged scapula
Winged scapula 		phenotype Finding 73 3 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0 3
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease Acquired Abnormality 73 14 0.100 None 0 2
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		disease Acquired Abnormality 15 4 0.100 None 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		phenotype Finding 39 4 0.100 None 0 1
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		phenotype Finding 50 4 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0 2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		phenotype Finding 18 27 0.100 None 0 2
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		disease Disease or Syndrome 56 6 0.100 None 0 2
CUI: C1393871
Disease: Congenital finger flexion contractures
Congenital finger flexion contractures 		disease Congenital Abnormality 5 1 0.100 None 0