DYSF, dysferlin, 8291

N. diseases: 144; N. variants: 191
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847532
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 		0.710 Biomarker disease GENOMICS_ENGLAND Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. 25821721 2019
CUI: C1847532
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 		0.710 Biomarker disease GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793 2015
CUI: C1847532
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 		0.710 GeneticVariation disease BEFREE Mutation analysis of DYSF revealed novel compound heterozygous mutations of p.Tyr309X and c.236+1G>T in two related MM patients, known homozygous mutations, p.Arg89X and p.Gln176X, in two MM patients and a heterozygous missense mutation, p.Arg555Trp, in a DMAT patient. 19493611 2009
CUI: C1847532
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 		0.710 GermlineCausalMutation disease ORPHANET Mutation analysis of DYSF revealed novel compound heterozygous mutations of p.Tyr309X and c.236+1G>T in two related MM patients, known homozygous mutations, p.Arg89X and p.Gln176X, in two MM patients and a heterozygous missense mutation, p.Arg555Trp, in a DMAT patient. 19493611 2009
CUI: C1847532
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 		0.710 Biomarker disease CTD_human
CUI: C1847532
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 		0.710 GeneticVariation disease CLINVAR
CUI: C1847532
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1847532
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 		0.710 CausalMutation disease CLINVAR