×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
1.000
Biomarker
CLINGEN
To contribute to a better molecular understanding of GA-I we undertook a detailed molecular study on two GCDH disease-related variants, GCDH -p.Arg227Pro and GCDH -p.Val400Met.
31491587
2020
×
Entrez Id:
8517
Gene Symbol:
IKBKG
IKBKG
Bloch Sulzberger syndrome
1.000
Biomarker
GENOMICS_ENGLAND
To describe clinical characteristics and genotype of IP patients and compare clinical differences between IKBKG pathogenic variant positive and negative cohorts.
30905793
2019
×
Entrez Id:
1050
Gene Symbol:
CEBPA
CEBPA
Leukemia, Myelocytic, Acute
1.000
Biomarker
CLINGEN
Germline CEBPA mutations in Korean patients with acute myeloid leukemia .
30563700
2019
×
Entrez Id:
1050
Gene Symbol:
CEBPA
CEBPA
Leukemia, Myelocytic, Acute
1.000
Biomarker
CTD_human
Subtype-specific regulatory network rewiring in acute myeloid leukemia.
30420649
2019
×
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:
1629
Gene Symbol:
DBT
DBT
Maple Syrup Urine Disease
1.000
Biomarker
GENOMICS_ENGLAND
Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.
31119508
2019
×
Entrez Id:
1629
Gene Symbol:
DBT
DBT
Maple Syrup Urine Disease
1.000
Biomarker
GENOMICS_ENGLAND
Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.
31112740
2019
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
melanoma
1.000
Biomarker
CTD_human
Gene expression analysis using pre-treatment tumor samples supports high ALDH1A3 expression before BRAF /MEK inhibitor treatment as predictive of better treatment response in BRAF -mutant melanoma patients.
31580832
2019
×
Entrez Id:
2022
Gene Symbol:
ENG
ENG
Hereditary hemorrhagic telangiectasia
1.000
Biomarker
CLINGEN
Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.
30763665
2019
×
Entrez Id:
5311
Gene Symbol:
PKD2
PKD2
Polycystic Kidney, Autosomal Dominant
1.000
Biomarker
CTD_human
Some cases of autosomal dominant polycystic kidney disease (ADPKD ) are caused by defects in TRPP2 (also called polycystin-2 , PC2, or PKD2 ).
30883612
2019
×
Entrez Id:
686
Gene Symbol:
BTD
BTD
Biotinidase Deficiency
1.000
Biomarker
CLINGEN
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.
30616616
2019
×
Entrez Id:
2737
Gene Symbol:
GLI3
GLI3
Greig cephalopolysyndactyly syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.
31115189
2019
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Senter syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
31160754
2019
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Coffin-Siris syndrome
1.000
Biomarker
CLINGEN
De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome .
31628733
2019
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
Biomarker
GENOMICS_ENGLAND
Prenatal diagnosis of Norrie disease based on ultrasound findings.
30125416
2019
×
Entrez Id:
1811
Gene Symbol:
SLC26A3
SLC26A3
Congenital chloride diarrhea
1.000
Biomarker
GENOMICS_ENGLAND
Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report.
30635044
2019
×
Entrez Id:
7507
Gene Symbol:
XPA
XPA
Xeroderma pigmentosum, group A
1.000
Biomarker
GENOMICS_ENGLAND
Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care.
30565713
2019
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
Ehlers-Danlos Syndrome, Type IV
1.000
Biomarker
GENOMICS_ENGLAND
Challenges in diagnosis of von Willebrand disease in the presence of combined mutations of different genes.
30690834
2019
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Infantile hypophosphatasia
1.000
Biomarker
GENOMICS_ENGLAND
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.
30979546
2019
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
1.000
Biomarker
CLINGEN
Glutaric acidemia type 1 (GA1 ) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH ).
31062211
2019
×
Entrez Id:
8398
Gene Symbol:
PLA2G6
PLA2G6
Infantile Neuroaxonal Dystrophy
1.000
Biomarker
GENOMICS_ENGLAND
[PLA2G6 compound complicated mutation in an atypical neuroaxonal dystrophy pedigree].
30772976
2019
×
Entrez Id:
114327
Gene Symbol:
EFHC1
EFHC1
Juvenile Myoclonic Epilepsy
1.000
Biomarker
GENOMICS_ENGLAND
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
31056551
2019
×
Entrez Id:
22954
Gene Symbol:
TRIM32
TRIM32
Limb-girdle muscular dystrophy type 2H
1.000
Biomarker
GENOMICS_ENGLAND
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
30823891
2019
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
Hypocalciuric hypercalcemia, familial, type 1
1.000
Biomarker
GENOMICS_ENGLAND
Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.
28740527
2019
×
Entrez Id:
5251
Gene Symbol:
PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000
Biomarker
GENOMICS_ENGLAND
Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors.
31065622
2019