Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 GermlineCausalMutation disease ORPHANET Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 GeneticVariation disease UNIPROT Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 Biomarker disease CTD_human
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 Biomarker disease GENOMICS_ENGLAND
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 Biomarker disease GENOMICS_ENGLAND
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 CausalMutation disease CLINVAR