Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome
0.800 Biomarker disease CTD_human
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome
0.800 CausalMutation disease CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 Biomarker disease HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
0.110 Biomarker group HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia
0.100 CausalMutation phenotype CLINVAR
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation
0.100 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation
0.100 CausalMutation phenotype CLINVAR
CUI: C0015310
Disease: Exotropia
Exotropia
0.100 CausalMutation disease CLINVAR
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.100 Biomarker phenotype HPO
CUI: C0017639
Disease: Gliosis
Gliosis
0.100 CausalMutation phenotype CLINVAR
CUI: C0018965
Disease: Hematuria
Hematuria
0.100 CausalMutation phenotype CLINVAR
CUI: C0019572
Disease: Hirsutism
Hirsutism
0.100 Biomarker phenotype HPO
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder
0.100 CausalMutation phenotype CLINVAR
CUI: C0020490
Disease: Hyperopia
Hyperopia
0.100 CausalMutation disease CLINVAR
CUI: C0024433
Disease: Macrostomia
Macrostomia
0.100 Biomarker disease HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
0.100 Biomarker group HPO
CUI: C0024636
Disease: Malocclusion
Malocclusion
0.100 CausalMutation disease CLINVAR
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 CausalMutation disease CLINVAR
CUI: C0026034
Disease: Microstomia
Microstomia
0.100 CausalMutation disease CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation phenotype CLINVAR
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 CausalMutation disease CLINVAR
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis
0.100 CausalMutation phenotype CLINVAR
CUI: C0086437
Disease: Joint laxity
Joint laxity
0.100 Biomarker phenotype HPO