Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN Thus it appears that recurrent mutations of a single amino acid in the transmembrane domain of the FGFR3 protein account for all cases (23/23) of achondroplasia in our series. 8078586

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. 14699054

2004

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. 7913883

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN The ACH candidate region includes the gene encoding fibroblast growth factor receptor 3 (FGFR3), which was originally considered as a candidate for the Huntington's disease gene. 7913883

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN DNA studies revealed point mutations in the FGFR3 gene in ACH heterozygotes and homozygotes. 7913883

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. 10200283

1999

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN We used gene targeting to introduce the human achondroplasia mutation into the murine FGFR3 gene. 10200283

1999

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN These experiments demonstrate that achondroplasia results from a gain-of-FGFR3-function leading to inhibition of chondrocyte proliferation. 10200283

1999

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. 9811582

1999

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3). 10200283

1999

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN The gene responsible for achondroplasia has been mapped to chromosome 4p16.3 (refs 7, 8); the genetic interval encompassing the disease gene contains a member of the fibroblast-growth-factor receptor (FGFR3) family which is expressed in articular chondrocytes. 8078586

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN Here we report the finding of recurrent missense mutations in a CpG doublet of the transmembrane domain of the FGFR3 protein (glycine substituted with arginine at residue 380, G380R) in 17 sporadic cases and 6 unrelated familial forms of achondroplasia. 8078586

1994

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN alpha-Galactosidase A deficient mice: a model of Fabry disease. 9122231

1997

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN Fabry disease is an X-linked inherited metabolic disorder that is caused by a deficiency of alpha-galactosidase A (alpha-Gal A). 9122231

1997

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. 10666480

2000

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN A potential treatment reported for Fabry disease is active site specific chaperone (ASSC) therapy using 1-deoxygalactonojirimycin (DGJ), an inhibitor of alpha-galactosidase A, at subinhibitory concentrations. 18205205

2008

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. 2539398

1989

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). 10666480

2000

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN The metabolism of ceramide trihexosides. I. Purification and properties of an enzyme that cleaves the terminal galactose molecule of galactosylgalactosylglucosylceramide. 6020428

1967

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing Fabry disease, permit precise heterozygote detection and prenatal diagnosis, and help delineate phenotype-genotype correlations in this disease.</AB 10666480

2000

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis. 24094090

2015

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN Fabry disease is an X-linked recessive inborn metabolic disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (EC 3.2.1.22). 18205205

2008

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. 18205205

2008

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker CLINGEN Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. 6023233

1967