Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker GENOMICS_ENGLAND Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. 29461977

2018
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		1.000 Biomarker GENOMICS_ENGLAND Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia. 29212896

2018
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		1.000 Biomarker GENOMICS_ENGLAND Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1. 28509084

2018
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker GENOMICS_ENGLAND A multicentre study of patients with Timothy syndrome. 28371864

2018
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308

2018
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 Biomarker GENOMICS_ENGLAND Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability. 29607243

2018
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 Biomarker GENOMICS_ENGLAND Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. 29450879

2018
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		1.000 Biomarker GENOMICS_ENGLAND Loss-of-function mutations in ATP13A2 are associated with three neurodegenerative diseases: a rare form of Parkinson's disease termed Kufor-Rakeb syndrome (KRS), a lysosomal storage disorder termed neuronal ceroid lipofuscinosis (NCL), and a form of hereditary spastic paraplegia (HSP). 29859891

2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		1.000 Biomarker GENOMICS_ENGLAND First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene. 30173992

2018
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		1.000 Biomarker GENOMICS_ENGLAND Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis. 30544562

2018
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 Biomarker GENOMICS_ENGLAND Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. 29466841

2018
Entrez Id: 26119
Gene Symbol: LDLRAP1
LDLRAP1
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		1.000 Biomarker GENOMICS_ENGLAND Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). 29245109

2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 Biomarker GENOMICS_ENGLAND Inotersen: First Global Approval. 30120737

2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 Biomarker GENOMICS_ENGLAND Inotersen: First Global Approval. 30120737

2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 Biomarker GENOMICS_ENGLAND Inotersen: First Global Approval. 30120737

2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 Biomarker GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308

2018
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. 28965847

2017
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. 28064200

2017
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. 27669550

2017
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. 27669550

2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 Biomarker GENOMICS_ENGLAND Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. 28242437

2017
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		1.000 Biomarker GENOMICS_ENGLAND Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. 28433102

2017
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Neuroimaging Changes in Menkes Disease, Part 2. 28495940

2017