Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GermlineCausalMutation disease ORPHANET
Entrez Id: 1520
Gene Symbol: CTSS
CTSS 		0.200 Biomarker disease MGD
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 Biomarker disease BEFREE <b>Aim:</b> Detection of drug-induced dystrophin in patient muscle biopsy is a surrogate outcome measure for Duchenne muscular dystrophy. 31379197 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 AlteredExpression disease BEFREE (+)-Negamycin, a natural dipeptide-like antibiotic, may restore some dystrophin expression in the skeletal muscles of mice with Duchenne muscular dystrophy, and this compound has been recognized as a potential therapeutic agent for diseases caused by nonsense mutations. 28951602 2018
Entrez Id: 2710
Gene Symbol: GK
GK 		0.090 GeneticVariation disease BEFREE (The adrenal hypoplasia congenita and glycerol kinase loci map in Xp21 distal to Duchenne muscular dystrophy, and proximal to DXS727). 8033374 1994
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.010 GeneticVariation disease BEFREE 10,000 boys were then screened for Duchenne muscular dystrophy using the PKU sample, and 2 cases were found. 475411 1979
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GeneticVariation disease BEFREE Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked neuromuscular disorders associated with alterations in the dystrophin gene. 10094565 1999
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GeneticVariation disease BEFREE DMD is associated with an abnormal electroretinogram (ERG) if the mutation disrupts the translation of retinal dystrophin (Dp260). 10227401 1999
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GeneticVariation disease BEFREE Duchenne Muscular Dystrophy (DMD) originates from deleterious mutations in the dystrophin gene, with a complete loss of the protein product. 11525743 2001
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle wasting disease caused by the absence of a muscle cytoskeletal protein, dystrophin. 11726694 2001
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is characterized by progressive muscle degeneration that results from the absence of dystrophin. 11734539 2001
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 Biomarker disease BEFREE Duchenne muscular dystrophy is an X-linked disease of muscle caused by an absence of the protein dystrophin. 11929208 2002
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by the absence of dystrophin. 11997063 2002
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GeneticVariation disease BEFREE Duchenne muscular dystrophy (DMD) is a severe progressive muscle-wasting disorder caused by mutations in the dystrophin gene. 12235112 2002
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 AlteredExpression disease BEFREE Duchenne muscular dystrophy (DMD) is a fatal childhood disease caused by mutations that abolish the expression of dystrophin in muscle. 12235137 2002
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD), caused by the absence of dystrophin, is associated with decreased muscle cell proliferation. 12732930 2003
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin, which triggers complex molecular and biological events in skeletal and cardiac muscle tissues. 12875769 2003
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 AlteredExpression disease BEFREE Duchenne muscular dystrophy is a fatal childhood disease caused by mutations that abolish the expression of dystrophin in muscle. 15172107 2004
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GeneticVariation disease BEFREE Duchenne muscular dystrophy (DMD) and the allelic milder form of Becker muscular dystrophy (BMD) are caused by mutations of the dystrophin gene on the short arm of the X chromosome. 1537352 1992
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GeneticVariation disease BEFREE Duchenne muscular dystrophy (DMD) is a lethal genetic muscle disorder caused by recessive mutations in the dystrophin gene. 15454965 2004
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GeneticVariation disease BEFREE Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. 15655674 2005
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GeneticVariation disease BEFREE Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, making it a potential target for gene therapy. 15709034 2005
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused in the majority of cases by deletions of the DMD gene and are readily detectable in affected males by multiplex polymerase chain reaction (PCR). 15841391 2005
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GeneticVariation disease BEFREE Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder with an incidence of approximately 1 in 3500 males, caused by mutation in the DMD gene. 16353285 2005
Entrez Id: 1756
Gene Symbol: DMD
DMD 		1.000 GeneticVariation disease BEFREE Duchenne muscular dystrophy and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene (Xp21). 16608904 2006