Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 CausalMutation disease CLINVAR
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease CTD_human
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 GeneticVariation disease CLINVAR
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease CTD_human
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.700 Biomarker disease CTD_human
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		0.510 Biomarker disease CTD_human
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.140 Biomarker disease HPO
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.140 CausalMutation disease CLINVAR
CUI: C0086543
Disease: Cataract
Cataract 		0.120 CausalMutation disease CLINVAR
CUI: C0086543
Disease: Cataract
Cataract 		0.120 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 Biomarker disease HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.110 Biomarker phenotype HPO
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		0.100 Biomarker phenotype HPO
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.100 Biomarker disease HPO
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis 		0.100 Biomarker disease HPO
CUI: C0004158
Disease: Athetosis
Athetosis 		0.100 Biomarker phenotype HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 CausalMutation disease CLINVAR
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 CausalMutation disease CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		0.100 Biomarker phenotype HPO