×
Entrez Id:
114327
Gene Symbol:
EFHC1
EFHC1
Juvenile Myoclonic Epilepsy
1.000
GeneticVariation
UNIPROT
We examined the complete structure of the EFHC1 transcript from 480 JME patients and 700 control chromosomes by direct sequencing.
28370826
2017
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
1.000
GeneticVariation
UNIPROT
These results indicate that mutations in the coding region of the SLC22A5 gene cannot be identified in about 16% of the alleles causing primary carnitine deficiency .
28841266
2017
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
Charcot-Marie-Tooth disease, X-linked, 1
1.000
GeneticVariation
UNIPROT
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
27234031
2017
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
1.000
GeneticVariation
UNIPROT
Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia : case report.
28737873
2017
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
1.000
GeneticVariation
UNIPROT
Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed.
28244183
2017
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Central Core Myopathy (disorder)
1.000
GeneticVariation
UNIPROT
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
27234031
2017
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000
GeneticVariation
UNIPROT
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
29053796
2017
×
Entrez Id:
6567
Gene Symbol:
SLC16A2
SLC16A2
Allan-Herndon-Dudley syndrome (AHDS)
1.000
GeneticVariation
UNIPROT
Clinical and Molecular Characteristics of SLC16A2 (MCT8 ) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome .
27805744
2017
×
Entrez Id:
3897
Gene Symbol:
L1CAM
L1CAM
MASA SYNDROME (disorder)
1.000
GeneticVariation
UNIPROT
We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p.I37N, p.T38M, p.M172I and p.D202Y, located to the two N-terminal Ig-like domains present in five families with symptoms of L1 syndrome .
26891472
2017
×
Entrez Id:
129563
Gene Symbol:
DIS3L2
DIS3L2
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
1.000
GeneticVariation
UNIPROT
Further studies of Perlman syndrome patients with proven DIS3L2 mutations are needed to clarify genotype-phenotype correlation.
28328139
2017
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000
GeneticVariation
UNIPROT
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
27234031
2017
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
28470624
2017
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.
28842488
2017
×
Entrez Id:
23400
Gene Symbol:
ATP13A2
ATP13A2
KUFOR-RAKEB SYNDROME
1.000
GeneticVariation
UNIPROT
Our biochemical and immunocytochemical experiments in COS-1 and HeLa cells and patient-derived fibroblasts demonstrated that the hereditary spastic paraplegia-associated mutations, similarly to the ones causing Kufor-Rakeb syndrome and neuronal ceroid lipofuscinosis, cause loss of ATP13A2 function due to transcript or protein instability and abnormal intracellular localization of the mutant proteins, ultimately impairing the lysosomal and mitochondrial function.
28137957
2017
×
Entrez Id:
10939
Gene Symbol:
AFG3L2
AFG3L2
SPINOCEREBELLAR ATAXIA 28
1.000
GeneticVariation
UNIPROT
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
29053796
2017
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
UNIPROT
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
28236341
2017
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
Spastic paraplegia 4, autosomal dominant
1.000
GeneticVariation
UNIPROT
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
28572275
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
UNIPROT
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
27234031
2017
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000
GeneticVariation
UNIPROT
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
27020652
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Fabry disease (FD ) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase α-galactosidase A (α-gal A).
26415523
2016
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
p.A143T patients suffering from stroke/ transient ischemic attacks had slightly decreased residual GLA activities, and/or increased lyso-Gb3 levels, suspecting FD .
27142856
2016
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
Crohn Disease
1.000
GeneticVariation
UNIPROT
Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs).
27812135
2016
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
UNIPROT
In the current study, we investigated the mechanism responsible for the gating defects manifested in R117H-CFTR , an arginine-to-histidine substitution at position 117 of CFTR that is associated with mild forms of CF .
26846474
2016
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
UNIPROT
Rattlesnake Phospholipase A2 Increases CFTR-Chloride Channel Current and Corrects ∆F508CFTR Dysfunction: Impact in Cystic Fibrosis.
27241308
2016
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Factor VIII Antigen, Activity, and Mutations in Hemophilia A.
25550078
2016