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 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 Biomarker group HPO
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
CUI: C4024731
Disease: Flexion limitation of toes
Flexion limitation of toes 		0.100 Biomarker phenotype HPO
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		0.010 Biomarker group BEFREE 2 cells with herpes simplex virus type 1 (HSV-1) leads to a reorganization of antigens associated with both the small and heterogeneous nuclear ribonucleoprotein complexes (snRNP and hnRNP). 2824525 1987
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: 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: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		0.010 Biomarker disease BEFREE Lupus anti-BC abs effectively compete with RNA transport factor heterogeneous nuclear ribonucleoprotein A2 (hnRNP A2) for access to BC RNAs. 31405929 2019
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.010 Biomarker disease BEFREE Lupus anti-BC abs effectively compete with RNA transport factor heterogeneous nuclear ribonucleoprotein A2 (hnRNP A2) for access to BC RNAs. 31405929 2019
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		0.010 Biomarker disease BEFREE Lupus anti-BC abs effectively compete with RNA transport factor heterogeneous nuclear ribonucleoprotein A2 (hnRNP A2) for access to BC RNAs. 31405929 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 Biomarker disease BEFREE SLE anti-BC abs effectively compete with RNA transport factor heterogeneous nuclear ribonucleoprotein A2 (hnRNP A2) for DTE access and significantly diminish BC RNA delivery to synapto-dendritic sites of function. 31405929 2019
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		0.010 Biomarker disease BEFREE SLE anti-BC abs effectively compete with RNA transport factor heterogeneous nuclear ribonucleoprotein A2 (hnRNP A2) for DTE access and significantly diminish BC RNA delivery to synapto-dendritic sites of function. 31405929 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.090 AlteredExpression group BEFREE HnRNP proteins controlled by c-Myc deregulate pyruvate kinase mRNA splicing in cancer. 20010808 2010