Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.500 None 0.919 0 1 1987 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		phenotype 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 8
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.700 None 0.962 0 1 1993 2020
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C4022648
Disease: Abnormal muscle fiber dystrophin expression
Abnormal muscle fiber dystrophin expression 		phenotype 0.100 None 0 1