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: C0029453
Disease: Osteopenia
Osteopenia 		0.110 GeneticVariation disease BEFREE While the patients with GORAB mutations have severe osteopenia, the patients with PYCR1 mutations have severe mental retardation. 21204221 2011
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.110 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 Biomarker disease HPO
CUI: C0029489
Disease: Other alopecia
Other alopecia 		0.100 GeneticVariation phenotype GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		0.100 GeneticVariation disease GWASCAT GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. 29146897 2017
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