×
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
Congenital contractural arachnodactyly
1.000
GeneticVariation
CLINVAR
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
30675029 2019
×
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CHARGE Syndrome
1.000
GeneticVariation
CLINVAR
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
30828794 2019
×
Entrez Id: 175
Gene Symbol: AGA
AGA
Aspartylglucosaminuria
1.000
GeneticVariation
CLINVAR
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.
29930972 2019
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
CLINVAR
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
30675029 2019
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
30570710 2019
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
27672653 2019
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
27672653 2019
SERPINC1
Antithrombin III Deficiency
1.000
GeneticVariation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749 2019
×
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
Vitelliform Macular Dystrophy
1.000
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Diabetes mellitus autosomal dominant type II (disorder)
1.000
GeneticVariation
CLINVAR
Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.
30592380 2019
×
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
Renal carnitine transport defect
1.000
CausalMutation
CLINVAR
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
30609409 2019
×
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand Disease, Type 2
1.000
CausalMutation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749 2019
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
GeneticVariation
CLINVAR
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer.
30376427 2019
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer.
31101557 2019
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
SEBASTIAN SYNDROME
1.000
GeneticVariation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749 2019
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
29925512 2019
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
1.000
CausalMutation
CLINVAR
Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India.
29184351 2019
×
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
beta-Mannosidosis
1.000
CausalMutation
CLINVAR
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
30872814 2019
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.
29867742 2018
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Conjunctival lymphangiectasia associated with classic Fabry disease.
28500230 2018
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.
29491734 2018
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Female Fabry disease patients and X-chromosome inactivation.
29079200 2018
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
29982630 2018