Source: ORPHANET

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 GermlineCausalMutation ORPHANET Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. 24939586

2015
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GermlineCausalMutation ORPHANET Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 11159947

2001
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GermlineCausalMutation ORPHANET Triple A syndrome is caused by mutations in the gene encoding ALADIN, leading to achalasia, alacrima and addisonism. 20674935

2010
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GermlineCausalMutation ORPHANET Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome. 11815731

2001
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.720 GermlineCausalMutation ORPHANET Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. 23000146

2012
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.720 GermlineCausalMutation ORPHANET Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. 23064416

2012
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 GermlineCausalMutation ORPHANET Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.320 GermlineCausalMutation ORPHANET Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.310 GermlineCausalMutation ORPHANET Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. 27749956

2016
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation ORPHANET Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. 23890588

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation ORPHANET Hyperlysinemia is caused by mutations in AASS. 23570448

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation ORPHANET 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
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria 		0.600 GermlineCausalMutation ORPHANET Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. 10775527

2000
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria 		0.600 GermlineCausalMutation ORPHANET Genetic basis of hyperlysinemia. 23570448

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0936256
Disease: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 		0.500 GermlineCausalMutation ORPHANET Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. 23890588

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0936256
Disease: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 		0.500 GermlineCausalMutation ORPHANET Genetic basis of hyperlysinemia. 23570448

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0936256
Disease: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 		0.500 GermlineCausalMutation ORPHANET Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. 10775527

2000
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C2936921
Disease: Saccharopine dehydrogenase deficiency
Saccharopine dehydrogenase deficiency 		0.500 GermlineCausalMutation ORPHANET Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. 10775527

2000
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C2936921
Disease: Saccharopine dehydrogenase deficiency
Saccharopine dehydrogenase deficiency 		0.500 GermlineCausalMutation ORPHANET Genetic basis of hyperlysinemia. 23570448

2013
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 GermlineCausalMutation ORPHANET In an effort to elucidate the molecular basis of GABA-T deficiency, we isolated and characterized a 1.5 kb cDNA encoding human GABA-T, in addition to a 41 kb genomic clone which encompassed the GABA-T coding region. 10407778

1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 GermlineCausalMutation ORPHANET Identification of a familial mutation associated with GABA-transaminase deficiency disease. 9746906

1998
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GermlineCausalMutation ORPHANET Sequence analysis of the ABC1 gene revealed that the proband for Tangier disease was homozygous for a deletion of nucleotides 3283 and 3284 (TC) in exon 22. 10535983

1999
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GermlineCausalMutation ORPHANET Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. 15158913

2004
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GermlineCausalMutation ORPHANET Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 22959828

2012
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0342898
Disease: Apolipoprotein A-I deficiency
Apolipoprotein A-I deficiency 		0.300 GermlineCausalMutation ORPHANET Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. 15158913

2004