Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease CLINVAR
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		0.760 CausalMutation disease CLINVAR
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		0.760 Biomarker disease CTD_human
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		0.760 CausalMutation disease CLINVAR
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		0.760 Biomarker disease CTD_human
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		0.740 CausalMutation disease CLINVAR
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		0.740 Biomarker disease CTD_human
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		0.730 CausalMutation disease CLINVAR
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		0.730 Biomarker disease CTD_human
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		0.710 CausalMutation disease CLINVAR
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		0.710 Biomarker disease CTD_human
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 		0.710 CausalMutation disease CLINVAR
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 		0.710 Biomarker disease CTD_human
CUI: C1838492
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND