Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.600 Biomarker GENOMICS_ENGLAND External ear anomalies and hearing impairment in Noonan Syndrome. 25862627

2015
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.600 Biomarker GENOMICS_ENGLAND Expansion of the RASopathies. 27942422

2016
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582

2015
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker GENOMICS_ENGLAND Mutant WD-repeat protein in triple-A syndrome. 11062474

2000
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.720 Biomarker GENOMICS_ENGLAND A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family. 24289292

2014
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.720 Biomarker GENOMICS_ENGLAND Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. 23064416

2012
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.620 Biomarker GENOMICS_ENGLAND

Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
CUI: C0022580
Disease: Punctate keratosis
Punctate keratosis 		0.300 Biomarker GENOMICS_ENGLAND A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family. 24289292

2014
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
CUI: C0022580
Disease: Punctate keratosis
Punctate keratosis 		0.300 Biomarker GENOMICS_ENGLAND Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. 23064416

2012
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 Biomarker GENOMICS_ENGLAND Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland. 26032230

2015
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 Biomarker GENOMICS_ENGLAND Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. 28493438

2017
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 Biomarker GENOMICS_ENGLAND Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 Biomarker GENOMICS_ENGLAND Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 Biomarker GENOMICS_ENGLAND Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.700 Biomarker GENOMICS_ENGLAND Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.700 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C4540031
Disease: Combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency 		0.300 Biomarker GENOMICS_ENGLAND Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker GENOMICS_ENGLAND On the basis of these and other results, we propose that AASS catalyzes the first two steps of the major lysine-degradation pathway in human cells and that inactivating mutations in the AASS gene are a cause of hyperlysinemia. 10775527

2000