Source: CLINGEN

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

2015

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.600 Biomarker CLINGEN External ear anomalies and hearing impairment in Noonan Syndrome. 25862627

2015

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.300 Biomarker CLINGEN

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.300 Biomarker CLINGEN

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.300 Biomarker CLINGEN

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
Noonan syndrome-like disorder with loose anagen hair
0.300 Biomarker CLINGEN

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
Noonan-Like Syndrome With Loose Anagen Hair
0.300 Biomarker CLINGEN

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

2013

Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias
0.720 Biomarker CLINGEN 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 Biomarker CLINGEN High-throughput discovery of novel developmental phenotypes. 27626380

2016

Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias
0.720 Biomarker CLINGEN Conversion of lysine to saccharopine by human tissues. 4385118

1968

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

2016

Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome
0.800 Biomarker CLINGEN Unique properties of the ATP-sensitive K⁺ channel in the mouse ventricular cardiac conduction system. 21984445

2011

Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome
0.800 Biomarker CLINGEN Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular KATP channels. 8826984

1996

Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome
0.800 Biomarker CLINGEN Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. 26621776

2015

Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome
0.800 Biomarker CLINGEN Cantú syndrome is caused by mutations in ABCC9. 22608503

2012

Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome
0.800 Biomarker CLINGEN A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels. 8630239

1996

Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome
0.800 Biomarker CLINGEN Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116

2012

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker CLINGEN This study reports that the retroviral-mediated transfer of the ALD cDNA restored very-long-chain fatty acid oxidation in ALD fibroblasts in vitro following abundant expression and appropriate targeting of the vector-encoded ALDP in peroxisomes. 7878038

1995

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker CLINGEN Altered expression of ALDP in X-linked adrenoleukodystrophy. 7668254

1995

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker CLINGEN Since 5%-15% of heterozygous women have normal VLCFA levels, the immunodetection of ALDP in white blood cells can be applicable in a majority of ALD kindred, to identify heterozygous women, particularly when the ALD gene mutation has not yet been identified. 8651290

1996

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker CLINGEN Amongst 489 X-ALD families tested at Kennedy Krieger Institute, we identified 20 cases in which the ABCD1 mutation was de novo in the index case, indicating that the mutation arose in the maternal germ line and supporting a new mutation rate of at least 4.1% for this group. 21700483

2012

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker CLINGEN X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. 15811009

2005

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy
0.600 Biomarker CLINGEN X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012