Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GermlineCausalMutation disease ORPHANET
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease CTD_human
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		0.300 Biomarker disease GENOMICS_ENGLAND The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. 2328993 1990
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease BEFREE Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 9428641 1997
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 9428641 1997
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. 9675154 1998
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease BEFREE Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. 9675154 1998
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease GENOMICS_ENGLAND Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. 9675154 1998
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease 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
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 CausalMutation disease 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
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT 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
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		0.100 CausalMutation disease 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
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Structure and mutation analysis of the glycogen storage disease type 1b gene. 9781688 1998
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease BEFREE Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib. 9856496 1998
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib. 9856496 1998
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease BEFREE We report the structure of the human gene encoding the putative glucose 6-phosphate translocase that is mutated in glycogen storage disease type Ib. 10023055 1999
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 CausalMutation disease CLINVAR Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. 10026167 1999
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. 10026167 1999
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. 10026167 1999
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		0.100 CausalMutation disease CLINVAR Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. 10026167 1999
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 CausalMutation disease CLINVAR Molecular diagnosis of type 1c glycogen storage disease. 10323254 1999
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		0.100 CausalMutation disease CLINVAR Molecular diagnosis of type 1c glycogen storage disease. 10323254 1999
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. 10482875 1999