×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Congenital chloride diarrhea
1.000
GeneticVariation
UNIPROT
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea .
28644346
2017