Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
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
CUI: C0024796
Disease: Marfan Syndrome
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
CUI: C0004135
Disease: Ataxia Telangiectasia
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
CUI: C0010674
Disease: Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
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
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
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
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
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
CUI: C0017921
Disease: Glycogen storage disease type II
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
CUI: C0019202
Disease: Hepatolenticular Degeneration
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
CUI: C0019202
Disease: Hepatolenticular Degeneration
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
CUI: C0019202
Disease: Hepatolenticular Degeneration
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
CUI: C0023195
Disease: Lecithin Acyltransferase Deficiency
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
CUI: C0024796
Disease: Marfan Syndrome
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
CUI: C0024796
Disease: Marfan Syndrome
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
CUI: C0024796
Disease: Marfan Syndrome
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
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 CausalMutation CLINVAR A novel ABCC6 variant causative of pseudoxanthoma elasticum. 31240106

2019

Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
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
CUI: C0041341
Disease: Tuberous Sclerosis
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
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0085390
Disease: Li-Fraumeni Syndrome
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
CUI: C0162309
Disease: Adrenoleukodystrophy
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
CUI: C0265354
Disease: CHARGE Syndrome
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
CUI: C0268225
Disease: Aspartylglucosaminuria
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
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
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