×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
31730815
2020
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
31730815
2020
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.
30482293
2019
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.
30146269
2019
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.
30726326
2019
×
Entrez Id:
2160
Gene Symbol:
F11
F11
Hereditary Factor XI Deficiency
1.000
GeneticVariation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
×
Entrez Id:
2160
Gene Symbol:
F11
F11
Hereditary Factor XI Deficiency
1.000
CausalMutation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
31076647
2019
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
30232804
2019
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
The global prevalence of Wilson disease from next-generation sequencing data.
30254379
2019
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
30232804
2019
×
Entrez Id:
3931
Gene Symbol:
LCAT
LCAT
Lecithin Acyltransferase Deficiency
1.000
CausalMutation
CLINVAR
Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.
31164121
2019
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
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:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
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:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.
28098115
2019
×
Entrez Id:
368
Gene Symbol:
ABCC6
ABCC6
Pseudoxanthoma Elasticum
1.000
CausalMutation
CLINVAR
A novel ABCC6 variant causative of pseudoxanthoma elasticum.
31240106
2019
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
1.000
CausalMutation
CLINVAR
Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.
28503624
2019
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
Tuberous Sclerosis
1.000
CausalMutation
CLINVAR
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
30763456
2019
×
Entrez Id:
3988
Gene Symbol:
LIPA
LIPA
Wolman Disease
1.000
GeneticVariation
CLINVAR
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
31180157
2019
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
CLINVAR
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
29752822
2019
×
Entrez Id:
215
Gene Symbol:
ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy.
28503596
2019
×
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