Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 Biomarker group BEFREE A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability. 31257146 2019
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 Biomarker group HPO
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. 23620142 2013
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement
0.100 GeneticVariation phenotype GWASDB Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. 23620142 2013
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.100 GeneticVariation disease GWASCAT Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. 20038947 2011
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival
0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot
0.100 Biomarker phenotype HPO
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus
0.100 Biomarker disease HPO
Sensorineural Hearing Loss (disorder)
0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.100 Biomarker disease HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia
0.100 Biomarker disease HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia
0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.100 Biomarker phenotype HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
0.100 Biomarker disease HPO
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary
0.100 Biomarker phenotype HPO
CUI: C0086437
Disease: Joint laxity
Joint laxity
0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract
0.100 Biomarker disease HPO
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
0.100 Biomarker disease HPO