Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker GENOMICS_ENGLAND Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. 29661970

2018

Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2
CUI: C0008029
Disease: Cherubism
Cherubism
1.000 Biomarker GENOMICS_ENGLAND Second-Generation SYK Inhibitor Entospletinib Ameliorates Fully Established Inflammation and Bone Destruction in the Cherubism Mouse Model. 29669173

2018

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 Biomarker GENOMICS_ENGLAND We specifically attempt to evaluate whether strong acting rare alleles, particularly protein-truncating or otherwise large effect-size alleles, enriched by the same founder-effect, contribute excess genetic risk to Crohn's disease in AJ, and find that ten rare genetic risk factors in NOD2 and LRRK2 are enriched in AJ (p < 0.005), including several novel contributing alleles, show evidence of association to CD. 29795570

2018

Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency
1.000 Biomarker GENOMICS_ENGLAND Molecular investigation of 41 patients affected by coagulation factor XI deficiency. 29178608

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker GENOMICS_ENGLAND This case highlights the importance of early screening for PTEN mutations in cases of hemimegalencephaly not otherwise explained by another disorder, even in the absence of signs of Proteus syndrome or the full manifestations of Bannayan-Riley Ruvalcaba syndrome. 29444762

2018

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker GENOMICS_ENGLAND Henceforth, we screened and sequenced 21 exons of ATP7B gene from 50 WD patients and 60 healthy subjects. 30120852

2018

Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome
1.000 Biomarker GENOMICS_ENGLAND Incontinentia Pigmenti: A Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols. 28870493

2018

Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic
1.000 Biomarker GENOMICS_ENGLAND Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand. 29707407

2018

Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic
1.000 Biomarker GENOMICS_ENGLAND Immunohistochemical staining of the liver for multidrug resistance-associated protein 2 and molecular genetic analysis of ABCC2 are crucial for accurate diagnosis of neonatal Dubin-Johnson syndrome. 29499989

2018

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker GENOMICS_ENGLAND The aim of this study is the MT[HYPHEN]ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses. 29481804

2018

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker GENOMICS_ENGLAND Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 30266093

2018

Entrez Id: 411
Gene Symbol: ARSB
ARSB
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI
1.000 Biomarker GENOMICS_ENGLAND Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. 30083803

2018

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker GENOMICS_ENGLAND Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. 29409008

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker GENOMICS_ENGLAND A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia. 28587547

2018

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker GENOMICS_ENGLAND Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. 29618507

2018

Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
1.000 Biomarker GENOMICS_ENGLAND Peripheral neuropathy in Tangier disease: A literature review and assessment. 29582519

2018

Entrez Id: 2201
Gene Symbol: FBN2
FBN2
Congenital contractural arachnodactyly
1.000 Biomarker GENOMICS_ENGLAND Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. 29907982

2018

Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome
1.000 Biomarker GENOMICS_ENGLAND Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease. 29755943

2018

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker GENOMICS_ENGLAND A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. 29617172

2018

Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy
1.000 Biomarker GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433

2018

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker GENOMICS_ENGLAND Animal models have been generated that formally prove the causality between MYO5B and MVID. 29266534

2018

Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
1.000 Biomarker GENOMICS_ENGLAND Dilated Cardiomyopathy With Short QT Interval Suggests Primary Carnitine Deficiency. 29198778

2018

Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
1.000 Biomarker GENOMICS_ENGLAND Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. 29366613

2018

Entrez Id: 5251
Gene Symbol: PHEX
PHEX
Hypophosphatemic Rickets, X-Linked Dominant
1.000 Biomarker GENOMICS_ENGLAND XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported. 29460029

2018

Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000 Biomarker GENOMICS_ENGLAND Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a hereditary progressive neurodegenerative disease well documented among Caucasians, but such clinical data and genetic characterization is lacking among Asian populations. 30053402

2018