Source: ALL

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 GeneticVariation BEFREE Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). 27987249

2018

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family. 28679403

2018

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker BEFREE We screened 136 patients with myelofibrosis and a median age of 58 years who underwent allogeneic stem cell transplantation (AHSCT) for molecular residual disease for JAKV617F (n=101), thrombopoietin receptor gene (MPL) (n=4) or calreticulin (CALR) (n=31) mutation in peripheral blood on day +100 and +180 after AHSCT. 28714945

2018

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation BEFREE In CALR-mutant ET there was a difference between natural and therapy-related slope (P 0.006).In the JAK2-mutated cohort, the median allele burden at last evaluation was not different respect to that at first evaluation, neither in ET (22.9% vs 23.2%, P = 0.216) nor in PMF (50.5% vs 45.0%, P = 0.809), despite a positive slope. 28422716

2018

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation BEFREE The myeloproliferative neoplasms polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) display distinct clinical and pathologic features but are characterized by mutations in JAK2, MPL, and CALR leading to activation of the JAK-STAT pathway. 28948454

2018

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation BEFREE The myeloproliferative neoplasms polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) display distinct clinical and pathologic features but are characterized by mutations in JAK2, MPL, and CALR leading to activation of the JAK-STAT pathway. 28948454

2018

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 AlteredExpression BEFREE The thrombopoietin/MPL axis is activated in the Gata1<sup>low</sup> mouse model of myelofibrosis and is associated with a defective RPS14 signature. 28622305

2018

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
1.000 GeneticVariation BEFREE Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria. 28869836

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker BEFREE Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. 28756410

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease. 28377241

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker BEFREE Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature. 27608175

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation BEFREE Fabry disease due to D313Y and novel GLA mutations. 28988177

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR Six hundred Fabry disease-causing mutations were expressed in HEK-293 (HEK) cells; increases in α-galactosidase A activity were measured by a good laboratory practice (GLP)-validated assay (GLP HEK/Migalastat Amenability Assay). 27657681

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system. 28302345

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation BEFREE The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by <i>GLA</i>(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). 28798024

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation BEFREE α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 29018006

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) in the alpha-galactosidase A gene region (GLA) have been discussed as potential cause of symptoms and organ manifestations similarly to those seen in Fabry disease (FD). 29794742

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation BEFREE Fabry disease (FD) is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. 28276057

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker BEFREE It is still not entirely clear how α-galactosidase A (GAA) deficiency translates into clinical symptoms of Fabry disease (FD). 28351893

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR The GLA IVS4+919G>A which is linked to late-onset Fabry disease shows high frequency in Taiwan. 28377241

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation BEFREE Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients. 28275245

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 Biomarker BEFREE Fabry disease (FD) results from impaired globotriaosylceramide (Gb3) catabolism, due to a deficiency of the lysosomal hydrolase, α-galactosidase A (α-GalA). 28847675

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. 27657681

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation BEFREE Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease. 28377241

2018

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation BEFREE Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846

2018