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: 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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 Biomarker disease HPO
CUI: C0581342
Disease: Redundant skin
Redundant skin 		0.100 Biomarker phenotype HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.100 Biomarker disease HPO
CUI: C1301937
Disease: Talipes
Talipes 		0.100 Biomarker disease HPO
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		0.100 Biomarker phenotype HPO
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		0.100 Biomarker phenotype HPO
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		0.100 Biomarker phenotype HPO
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		0.100 Biomarker phenotype HPO
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		0.100 Biomarker phenotype HPO
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		0.100 Biomarker phenotype HPO
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		0.100 Biomarker phenotype HPO
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.100 Biomarker disease HPO
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		0.100 Biomarker phenotype HPO
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		0.100 Biomarker phenotype HPO
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		0.100 Biomarker phenotype HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 Biomarker disease HPO
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: 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