Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
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
CUI: C0268595
Disease: Glutaric aciduria, type 1
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
CUI: C0268595
Disease: Glutaric aciduria, type 1
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

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
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
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
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
CUI: C0342788
Disease: Renal carnitine transport defect
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
CUI: C1264040
Disease: von Willebrand Disease, Type 2
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
CUI: C1854520
Disease: SEBASTIAN SYNDROME
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
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
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
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
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
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
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
CUI: C4048196
Disease: beta-Mannosidosis
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
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR Conjunctival lymphangiectasia associated with classic Fabry disease. 28500230

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR Female Fabry disease patients and X-chromosome inactivation. 29079200

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
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

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 CausalMutation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 CausalMutation CLINVAR Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers. 29665859

2018

Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
1.000 GeneticVariation CLINVAR Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide. 29439820

2018

Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
1.000 CausalMutation CLINVAR Immunodeficiency in Bloom's Syndrome. 29098565

2018