Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. 28679388

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation BEFREE New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. 28123174

2018

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 GeneticVariation BEFREE A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome. 29544218

2018

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 GeneticVariation BEFREE Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder mainly caused by heterozygous mutations of PTCH1. 28342698

2018

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 GeneticVariation BEFREE Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia. 29498494

2018

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 GeneticVariation BEFREE Basal cell naevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the Drosophila homologue of patched-1 gene (PTCH1). 27658957

2018

Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
1.000 Biomarker BEFREE Cells from Bloom's syndrome patients display genome instability due to a defective BLM and the downregulation of cytidine deaminase. 28947735

2018

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 Biomarker BEFREE MYC-rearranged (MYC-R) lymphomas other than Burkitt lymphoma (BL) are very aggressive, with poor prognosis when treated with standard regimens. 28648593

2018

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 AlteredExpression BEFREE BRCA2 deficiency in IGH/MYC-positive cells was associated with diminished HR activity and hypersensitivity to PARP1 inhibitors (olaparib, talazoparib) used alone or in combination with cytarabine <i>in vitro</i> Moreover, talazoparib exerted a therapeutic effect in NGS mice bearing primary Burkitt lymphoma xenografts. 28634224

2018

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation BEFREE Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B). 29034895

2018

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 AlteredExpression BEFREE The male proband of family 1 was found to lack CHM mRNA and its gene product Rab escort protein 1, whereas whole-genome sequencing of an affected male in family 2 excluded the involvement of any other known retinal genes. 28271586

2018

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation BEFREE Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia. 28643494

2018

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 AlteredExpression BEFREE As gene therapy of choroideremia is becoming a clinical reality, there is a need for reliable and sensitive assays to determine the expression of exogenously delivered Rab Escort Protein-1 (REP1), in particular to test new gene therapy vectors and as a quality control screen for clinical vector stocks. 29188508

2018

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE Modulating immunogenicity of factor IX by fusion to an immunoglobulin Fc domain: a study using a hemophilia B mouse model. 28166609

2018

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE Over the last decade, pioneering liver-directed gene therapy trials for haemophilia B have achieved sustained clinical improvement after a single systemic injection of adeno-associated virus (AAV) derived vectors encoding the human factor IX cDNA. 28567541

2018

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B. 28007939

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder caused by mutation of runt-related transcription factor 2 (RUNX2) gene. 28505335

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT The purpose of this study was to explore novel RUNX2 mutations in seven individuals with CCD and investigate the function of the mutant RUNX2 proteins. 28505335

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT To identify a novel mutation of Runx2 gene in Cleidocranial Dysplasia (CCD) patients and to characterize the functional consequences of this mutation. 28703881

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT The G462X mutation might reduce the Runx2 transacting activity, lower the protein stability, downgrade the expression of bone marker genes, and eventually diminish osteoblast differentiation in CCD patients. 28703881

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2018