DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.010 GeneticVariation disease BEFREE In these kindreds the XLRP locus shows close linkage with Xp21 marker loci OTC and DXS206. 2568332 1989
CUI: C0410165
Disease: X-linked muscular dystrophy with abnormal dystrophin
X-linked muscular dystrophy with abnormal dystrophin 		0.010 GeneticVariation disease BEFREE The majority of mutations in Xp21-linked muscular dystrophy (MD) can be identified by PCR or Southern blotting, as deletions or duplications of groups of exons in the dystrophin gene, but it is not always possible to predict how much altered dystrophin, if any, will be produced. 7684887 1993
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.050 GeneticVariation disease BEFREE Array CGH study confirmed the existence of a deletion in Xp21 of the genes responsible for DMD, GKD and the congenital adrenal hypoplasia (gene DAX1 or NROB1 gene: Xp21.3-21.2). 22308874 2011
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.050 GeneticVariation disease BEFREE One of the boys with DMD, GK, and AHC is shown by pulsed-field-gel electrophoresis to have a deletion which has a proximal endpoint at least 500 kb distal from the pERT87 (DXS164) locus. 2837087 1988
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.050 GeneticVariation disease BEFREE Molecular mapping revealed that the deletion extended from the 3' end of the DMD gene to a site telomeric to the loci for X-linked congenital adrenal hypoplasia and glycerol kinase deficiency. 7955386 1994
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.050 GeneticVariation disease BEFREE This is a case report of a boy with X-linked AHC associated with Duchenne muscular dystrophy, whose clinical presentation led to analysis of the DAX-1, glycerol kinase (GK1) and dystrophin genes, which were amplified by polymerase chain reaction, with Southern blot analysis of the AHC locus. 19339795 2009
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.050 GeneticVariation disease BEFREE For example, the map suggests that the adrenal hypoplasia congenita and glycerol kinase genes are physically close to each other, are within 1-2 Mb of the telomeric end of the Duchenne muscular dystrophy (DMD) gene, and are nearer to the DMD locus than to the more distal marker DXS28 (C7). 1463011 1992
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		0.100 Biomarker phenotype HPO
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		0.100 Biomarker disease BEFREE Duchenne muscular dystrophy is a muscle wasting disease that results from a dystrophin deficiency in skeletal and cardiac muscle. 11984871 2002
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		0.100 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disease caused by a lack of dystrophin, which eventually leads to apoptosis of muscle cells and impaired muscle contractility. 29317080 2018
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		0.100 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is a lethal muscle-wasting disease caused by the lack of dystrophin in muscle fibers that is currently without curative treatment. 31683098 2019
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		0.100 GeneticVariation disease BEFREE Duchenne muscular dystrophy is a lethal X-linked muscle wasting disease due to mutations of the dystrophin gene leading to distinct susceptibility to degeneration and fibrosis among skeletal muscles. 30953145 2019
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		0.100 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease that is characterized by muscle dystrophin deficiency. 16627883 2006
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		0.100 Biomarker disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive muscle-wasting disease. 1362673 1992
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		0.100 GeneticVariation disease BEFREE Out of three mutations in the dystrophin gene that cause Duchenne muscular dystrophy (DMD), the most common, serious childhood muscle wasting disease, two are genomic deletions of one or more exons that disrupt the reading frame. 18570328 2009
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		0.100 Biomarker disease BEFREE Duchenne muscular dystrophy is a fatal muscle wasting disease that is characterized by a deficiency in the protein dystrophin. 19359520 2009
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		0.100 AlteredExpression disease BEFREE Indeed, the loss of dystrophin protein expression causes the muscle wasting disease, Duchenne muscular dystrophy (DMD). 30349485 2018
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		0.100 Biomarker disease BEFREE Duchenne and Becker muscular dystrophies (DMD and BMD) are muscle-wasting diseases caused by mutations in the DMD gene-encoding dystrophin. 22589245 2012
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.100 Biomarker phenotype HPO
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.100 GeneticVariation disease BEFREE Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. 17041906 2007
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.100 GeneticVariation disease BEFREE As of February 2012, 583 DMD and 105 BMD patients were registered. 23601510 2013
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.100 Biomarker disease BEFREE However, small quantities of normal mRNA are also transcribed and these are sufficient to produce a reduced amount of normal molecular weight dystrophin and give rise to a milder BMD phenotype. 8730289 1996
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.100 Biomarker disease BEFREE Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene. 1864612 1991