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: 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: 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: 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: 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
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 GeneticVariation disease BEFREE 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
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 GeneticVariation disease CLINVAR 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
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 Biomarker disease CTD_human 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
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.770 Biomarker disease GENOMICS_ENGLAND 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
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 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: C0029456
Disease: Osteoporosis
Osteoporosis 		0.410 Biomarker disease CTD_human Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 18997784 2008
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.410 Biomarker disease HPO
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: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		0.400 Biomarker phenotype HPO
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		0.300 Biomarker disease CTD_human Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 18997784 2008
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		0.300 Biomarker disease CTD_human Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 18997784 2008
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.300 Biomarker group CTD_human Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 18997784 2008
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis 		0.300 Biomarker disease CTD_human Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 18997784 2008
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