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 Biomarker disease BEFREE Our results therefore identify GORAB as a COPI scaffolding factor, and support the view that defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica. 30631079 2019
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.010 GeneticVariation group BEFREE Here, we identify GORAB, the protein mutated in the skin and bone disorder gerodermia osteodysplastica, as a component of the COPI machinery. 30631079 2019
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 GeneticVariation disease BEFREE Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. 28807865 2017
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 Biomarker disease BEFREE A conditional mouse model of GO (Gorab<sup>Prx1</sup>) was generated in which the Gorab gene was deleted in long bones. 29108851 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.410 GeneticVariation disease BEFREE Gerodermia osteodysplastica (GO) is a segmental progeroid disorder caused by loss-of-function mutations in the GORAB gene, associated with early onset osteoporosis and bone fragility. 29108851 2017
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		0.400 Biomarker phenotype GENOMICS_ENGLAND Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. 28807865 2017
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.110 GeneticVariation disease BEFREE A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. 27604556 2017
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: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 GeneticVariation disease BEFREE Two GORAB missense mutations identified in gerodermia osteodysplastica patients fall within this IGRAB domain. 26000619 2015
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 Biomarker disease GENOMICS_ENGLAND Two GORAB missense mutations identified in gerodermia osteodysplastica patients fall within this IGRAB domain. 26000619 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes. 25819896 2015
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.010 Biomarker disease BEFREE Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes. 25819896 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Functional assays found that reintroduction of SCYL1BP1 into HCC cell lines significantly inhibited cell proliferation, foci formation, colony formation in soft agar and tumor formation in nude mice, suggesting the strong tumor-suppressive function of SCYL1BP1 in HCC progression. 22570270 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE Furthermore, SCYL1BP1 was found to be frequently downregulated in HCC clinical specimens compared to their paired non-tumor tissues by immunohistochemical staining. 22570270 2012
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		0.010 Biomarker disease BEFREE Investigation of brefeldin A-induced Golgi collapse in dermal fibroblasts as well as in HeLa cells deficient for ATP6V0A2 revealed a delay, which was absent in cells deficient for the ARCL-associated proteins GORAB or PYCR1. 22773132 2012
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 GeneticVariation disease BEFREE Although the disease resulting from recessive mutations in that gene has been recently designated ARCL2B, some clinical features, such as prognathism, elongated and lax face, osteopenia and limitation of skin wrinkling to the dorsum of hands and feet, in the patients reported here as well as in others reported with PYCR1 mutations, are generally more common in geroderma osteodysplasticum resulting from recessive GORAB mutations. 21204221 2011
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: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 Biomarker disease BEFREE Our study, therefore, supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of GO. 19681135 2009
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 Biomarker disease GENOMICS_ENGLAND Our study, therefore, supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of GO. 19681135 2009
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 GermlineCausalMutation disease ORPHANET Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. 18997784 2008