Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836765
Disease: LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 30055862 2018
CUI: C1836765
Disease: LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) 		0.700 GeneticVariation disease UNIPROT A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 24647604 2014
CUI: C1836765
Disease: LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) 		0.700 GermlineCausalMutation disease ORPHANET A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 24647604 2014
CUI: C1836765
Disease: LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C1836765
Disease: LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) 		0.700 Biomarker disease CTD_human
CUI: C1836765
Disease: LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) 		0.700 GeneticVariation disease CLINVAR
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.450 GeneticVariation group BEFREE To date, LGMD D3 (previously known as LGMD1G) has been characterized in only two families with Brazilian or Uruguayan origin. 30604053 2019
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.450 Biomarker group BEFREE Mutation of aspartic acid 378 of hnRNPDL to either asparagine or histidine has been associated with limb girdle muscular dystrophy. 30279180 2018
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.450 Biomarker group GENOMICS_ENGLAND 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 30055862 2018
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.450 Biomarker group BEFREE HNRPDL is linked to the development of limb-girdle muscular dystrophy 1G and shares domain architecture with TDP-43. 26160665 2015
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.450 Biomarker group BEFREE A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 24647604 2014
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.450 GeneticVariation group BEFREE The LGMD group is still growing today and consists of 19 autosomal dominant and recessive forms (LGMD1A to LGMD1G and LGMD2A to LGMD2M). 17339125 2007
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.450 Biomarker group HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.110 Biomarker group BEFREE The present study enlarges the clinical, morphological and muscle MRI spectrum of AD-HNRNPDL-related myopathies demonstrating the significant particularities of the disease. 31267206 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.110 Biomarker group HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.100 Biomarker phenotype HPO
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness 		0.100 Biomarker phenotype HPO
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		0.100 Biomarker phenotype HPO
CUI: C1836772
Disease: Decreased movement range in interphalangeal joints
Decreased movement range in interphalangeal joints 		0.100 Biomarker phenotype HPO
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C1866013
Disease: Proximal upper limb amyotrophy
Proximal upper limb amyotrophy 		0.100 Biomarker phenotype HPO