GORAB, golgin, RAB6 interacting, 92344

N. diseases: 60; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 CausalMutation disease CLINVAR
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 Biomarker disease GENOMICS_ENGLAND
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.410 Biomarker disease HPO
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		0.400 Biomarker phenotype HPO
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.110 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0019270
Disease: Hernia
Hernia 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0031099
Disease: Periodontitis
Periodontitis 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 Biomarker disease HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.100 Biomarker disease HPO
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		0.100 Biomarker disease HPO
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.100 Biomarker phenotype HPO
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		0.100 Biomarker phenotype HPO
CUI: C0266544
Disease: Microcornea
Microcornea 		0.100 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0423757
Disease: Thin skin
Thin skin 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO