Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.100 Biomarker phenotype HPO
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker disease HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.100 Biomarker phenotype HPO
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.100 Biomarker disease HPO
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence 		0.100 Biomarker phenotype HPO
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		0.100 Biomarker phenotype HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.100 Biomarker disease HPO
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		0.100 Biomarker disease HPO
CUI: C1834536
Disease: Weakness of the intrinsic hand muscles
Weakness of the intrinsic hand muscles 		0.100 Biomarker phenotype HPO
CUI: C1836047
Disease: Long face
Long face 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		0.100 Biomarker phenotype HPO
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 Biomarker disease HPO
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		0.100 Biomarker phenotype HPO
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		0.100 Biomarker phenotype HPO
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		0.100 Biomarker phenotype HPO
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		0.100 Biomarker phenotype HPO
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		0.100 Biomarker phenotype HPO