DES, desmin, 1674

N. diseases: 330; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block 		0.100 CausalMutation disease CLINVAR
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.100 Biomarker disease HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 CausalMutation phenotype CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0030590
Disease: Paroxysmal supraventricular tachycardia
Paroxysmal supraventricular tachycardia 		0.100 CausalMutation disease CLINVAR
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.100 Biomarker phenotype HPO
CUI: C0238044
Disease: Concentric hypertrophic cardiomyopathy
Concentric hypertrophic cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		0.100 CausalMutation phenotype CLINVAR
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		0.100 Biomarker phenotype HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		0.100 Biomarker phenotype HPO
CUI: C0428974
Disease: Supraventricular arrhythmia
Supraventricular arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		0.100 CausalMutation phenotype CLINVAR
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 CausalMutation phenotype CLINVAR
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		0.100 CausalMutation phenotype CLINVAR
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation disease CLINVAR
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.100 Biomarker disease HPO
CUI: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy 		0.100 Biomarker disease HPO
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.100 CausalMutation disease CLINVAR