Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 Biomarker disease CTD_human
CUI: C0342853
Disease: Sialuria
Sialuria 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C1096903
Disease: Sialic Acid Storage Disease, Finnish Type (disorder)
Sialic Acid Storage Disease, Finnish Type (disorder) 		0.360 Biomarker disease CTD_human
CUI: C1096902
Disease: Infantile Sialic Acid Storage Disease
Infantile Sialic Acid Storage Disease 		0.310 Biomarker disease CTD_human
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 CausalMutation group CLINVAR
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0019825
Disease: Hoarseness
Hoarseness 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		0.100 Biomarker disease HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.100 Biomarker disease HPO
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased 		0.100 Biomarker phenotype HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.100 Biomarker phenotype HPO