Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0085619
Disease: Orthopnea
Orthopnea 		0.100 Biomarker phenotype HPO
CUI: C0085623
Disease: Akinesia
Akinesia 		0.100 Biomarker disease HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		0.100 Biomarker disease HPO
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: C0234860
Disease: Weak cry
Weak cry 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0239594
Disease: Short finger
Short finger 		0.100 Biomarker phenotype HPO
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		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: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0426818
Disease: Thin rib
Thin rib 		0.100 Biomarker phenotype HPO
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.100 Biomarker phenotype HPO
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle 		0.100 Biomarker disease HPO
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.100 Biomarker phenotype HPO