Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group BEFREE Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.300 Biomarker disease GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.300 Biomarker phenotype GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder 		0.300 Biomarker disease GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		0.300 Biomarker disease GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker phenotype GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.300 Biomarker phenotype GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.300 Biomarker phenotype GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.300 Biomarker phenotype GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. 28224773 2017
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. 26913919 2016
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity. 24646511 2014
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 22899091 2013
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib. 18835800 2008
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b. 15953877 2005
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib. 12444104 2002
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.100 CausalMutation group CLINVAR Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. 10923042 2000
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. 10923042 2000
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter. 10940311 2000
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.100 CausalMutation group CLINVAR Molecular diagnosis of type 1c glycogen storage disease. 10323254 1999
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. 10026167 1999
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		0.100 CausalMutation disease CLINVAR Molecular diagnosis of type 1c glycogen storage disease. 10323254 1999
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.100 CausalMutation group CLINVAR A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 9758626 1998