×
Entrez Id:
144568
Gene Symbol:
A2ML1
A2ML1
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
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
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
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
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
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
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
OVARIOLEUKODYSTROPHY
0.320
GermlineCausalMutation
ORPHANET
Novel (ovario) leukodystrophy related to AARS2 mutations.
24808023
2014
×
Entrez Id:
57505
Gene Symbol:
AARS2
AARS2
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
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
Hyperlysinemias
0.720
GermlineCausalMutation
ORPHANET
Hyperlysinemia is caused by mutations in AASS .
23570448
2013
×
Entrez Id:
10157
Gene Symbol:
AASS
AASS
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
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
Saccharopinuria
0.600
GermlineCausalMutation
ORPHANET
Genetic basis of hyperlysinemia.
23570448
2013
×
Entrez Id:
10157
Gene Symbol:
AASS
AASS
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
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
0.500
GermlineCausalMutation
ORPHANET
Genetic basis of hyperlysinemia.
23570448
2013
×
Entrez Id:
10157
Gene Symbol:
AASS
AASS
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
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
Saccharopine dehydrogenase deficiency
0.500
GermlineCausalMutation
ORPHANET
Genetic basis of hyperlysinemia.
23570448
2013
×
Entrez Id:
18
Gene Symbol:
ABAT
ABAT
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
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
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
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
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
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