Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis. 30559189

2019

Entrez Id: 4126
Gene Symbol: MANBA
MANBA
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis
1.000 GeneticVariation UNIPROT The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus. 30552791

2019

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: 6445
Gene Symbol: SGCG
SGCG
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
1.000 GeneticVariation UNIPROT Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. 30345904

2018

Entrez Id: 8838
Gene Symbol: CCN6
CCN6
Progressive pseudorheumatoid dysplasia
1.000 GeneticVariation UNIPROT WISP3 mutation associated with pseudorheumatoid dysplasia. 29092958

2018

Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000 GeneticVariation UNIPROT XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1. 29973595

2018

Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
Amaurosis congenita of Leber, type 1
1.000 GeneticVariation UNIPROT Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis. 30319355

2018

Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies
1.000 GeneticVariation UNIPROT Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. 30345904

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GeneticVariation UNIPROT Because Fabry disease and primary erythromelalgia share similar symptoms, it is a good strategy for clinical physicians to perform genetic mutation screenings on both SCN9A and GLA genes in those patients with limb burning pain but without a clear inheritant pattern. 27211852

2017

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation UNIPROT We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with ovarian cancer. 28364669

2017

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT Our findings enrich the evidence of molecular genetics that the mutations of RUNX2 gene are responsible for CCD. 28738062

2017

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

2017

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Sec16A is critical for both conventional and unconventional secretion of CFTR. 28067262

2017

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Here, we investigated the impact of these compounds on the instability of F508del-CFTR, the most common CF mutation. 28087700

2017

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) result in the disease cystic fibrosis. 28001373

2017

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation UNIPROT The early-onset of Wilson's disease is apparently not associated with P-ATPase domain in the ATP7B protein. 28856630

2017

Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation UNIPROT Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD. 28035777

2017

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia. 27578112

2017

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 GeneticVariation UNIPROT Strikingly, the four MeCP2-NID residues mutated in RTT are those residues that make the most extensive contacts with TBLR1. 28348241

2017

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 GeneticVariation UNIPROT The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features. 28709814

2017

Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation UNIPROT Furthermore, it suggested ITGB3 as the mainly affected gene impaired in the patients with Glanzmann's thrombasthenia. 29084015

2017

Entrez Id: 443
Gene Symbol: ASPA
ASPA
CUI: C0206307
Disease: Canavan Disease
Canavan Disease
1.000 GeneticVariation UNIPROT Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. 28101991

2017

Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea
1.000 GeneticVariation UNIPROT Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. 28644346

2017