Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 GeneticVariation disease CLINVAR
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 CausalMutation disease CLINVAR
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 Biomarker disease CTD_human
CUI: C2678475
Disease: Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 1z 		0.700 CausalMutation disease CLINVAR
CUI: C2678475
Disease: Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 1z 		0.700 Biomarker disease CTD_human
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation disease CLINVAR
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker disease HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.350 Biomarker group GENOMICS_ENGLAND
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.180 Biomarker group HPO
CUI: C0008031
Disease: Chest Pain
Chest Pain 		0.100 Biomarker phenotype HPO
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.100 Biomarker phenotype HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.100 Biomarker disease HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.100 Biomarker group HPO
CUI: C0039070
Disease: Syncope
Syncope 		0.100 Biomarker phenotype HPO
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.100 Biomarker disease HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		0.100 Biomarker disease HPO
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0520887
Disease: ST segment depression (finding)
ST segment depression (finding) 		0.100 Biomarker phenotype HPO
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.100 Biomarker disease HPO
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.100 Biomarker disease HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.180 GeneticVariation group BEFREE Dilated cardiomyopathy (DCM) can be caused by a Gly159Asp mutation in cardiac troponin C (cTnC). 17577574 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 AlteredExpression group BEFREE TN-C mRNA signals in cancer cells were detected in all six cases examined by ISH. 10592053 1999