Source: CURATED

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 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
CUI: C0021171
Disease: Bloch Sulzberger syndrome
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
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
CUI: C0024776
Disease: Maple Syrup Urine Disease
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
CUI: C0024776
Disease: Maple Syrup Urine Disease
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
CUI: C0025202
Disease: melanoma
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
CUI: C0220754
Disease: Biotinidase Deficiency
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
CUI: C0265336
Disease: Senter syndrome
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
CUI: C0265338
Disease: Coffin-Siris syndrome
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
CUI: C0266526
Disease: Norrie disease
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
CUI: C0267662
Disease: Congenital chloride diarrhea
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
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
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
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
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
CUI: C0268412
Disease: Infantile hypophosphatasia
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
CUI: C0268595
Disease: Glutaric aciduria, type 1
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
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
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
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
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