Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		0.100 Biomarker phenotype HPO
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.100 Biomarker phenotype HPO
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 Biomarker phenotype HPO
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		0.100 Biomarker phenotype HPO
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.100 Biomarker disease HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.030 Biomarker group BEFREE The subjects carrying the abnormal trait show evidence of a myopathy which is subclinical in most instances and revealed only by estimation of serum CPK or biopsy. 4708457 1973
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		0.010 AlteredExpression disease BEFREE The relationships among a CoQ deficiency in muscle, serum CPK, and use of CPK in muscle are uncertain; however, restoration of CoQ enzyme activity in muscle by oral administration of CoQ could lead to increased use of CPK in muscle to form phosphocreatine from creatine and ATP, with a corresponding decrease in serum levels of CPK. 4525474 1974
CUI: C0026848
Disease: Myopathy
Myopathy 		0.030 Biomarker group BEFREE It is recommended that patients with known myopathy or unexplained elevations of serum CPK not receive the combination of halothane and succinylcholine. 987723 1976
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.010 Biomarker disease BEFREE Steroid-CPK test. A new diagnostic aid for muscular dystrophy and its carriers? 710453 1978
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.020 Biomarker disease BEFREE It is noteworthy that in such a way the detection rate of definite DMD carriers was higher than with the CPK test. 474067 1979
CUI: C0030552
Disease: Paresis
Paresis 		0.020 AlteredExpression phenotype BEFREE Two further members had raised CPK levels without muscle weakness. 497805 1979
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.020 AlteredExpression phenotype BEFREE Two further members had raised CPK levels without muscle weakness. 497805 1979
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.020 AlteredExpression disease BEFREE We have carried out serum assays for myoglobin in parallel with the determination of serum CPK activity to assess its usefulness in raising the detectability rate of Duchenne muscular dystrophy carriers. 7416442 1980
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.010 AlteredExpression disease BEFREE Amyotrophic choreo-acanthocytosis is a rare disease of adult onset characterized by dyskinesias, neurogenic muscular atrophy, erythrocytary acanthocytosis with normal serum lipoproteins and elevated levels of serum CPK. 3727925 1986
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		0.010 AlteredExpression disease BEFREE Amyotrophic choreo-acanthocytosis is a rare disease of adult onset characterized by dyskinesias, neurogenic muscular atrophy, erythrocytary acanthocytosis with normal serum lipoproteins and elevated levels of serum CPK. 3727925 1986
CUI: C0030552
Disease: Paresis
Paresis 		0.020 Biomarker phenotype BEFREE However she still has muscle weakness and serum concentrations of CPK and aldolase are still in higher levels than normal range. 2614020 1989
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.020 Biomarker phenotype BEFREE However she still has muscle weakness and serum concentrations of CPK and aldolase are still in higher levels than normal range. 2614020 1989
CUI: C0026848
Disease: Myopathy
Myopathy 		0.030 AlteredExpression group BEFREE However, in myopathy as "rimmed vacuole distal myopathy" serum CPK remains in normal level even though weakness is severe. 2082493 1990
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.010 AlteredExpression group BEFREE However, in myopathy as "rimmed vacuole distal myopathy" serum CPK remains in normal level even though weakness is severe. 2082493 1990
CUI: C0027849
Disease: Neuroleptic Malignant Syndrome
Neuroleptic Malignant Syndrome 		0.010 GeneticVariation disease BEFREE A single base substitution, C7278T, was detected in one patient whose serum CPK level was repetitively elevated, but his other major symptoms did not fulfil the clinical criteria for NMS. 8981316 1996
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.010 Biomarker phenotype BEFREE The patient demonstrated generalized prolonged myoclonus severe enough to produce temperatures of 41.4 degrees C and CPK elevations to 7281 U/l. 12860512 2003
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		0.010 Biomarker disease LHGDN Vascular endothelial growth factor receptor-1 and receptor-2 initiate a phosphatidylinositide 3-kinase-dependent clonogenic response in acute myeloid leukemia cells. 15183893 2004