Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 133686
Gene Symbol: NADK2
NADK2
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		0.600 Biomarker CLINGEN Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. 24847004

2014
Entrez Id: 133686
Gene Symbol: NADK2
NADK2
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		0.600 Biomarker CLINGEN Deficiency of the Mitochondrial NAD Kinase Causes Stress-Induced Hepatic Steatosis in Mice. 28923496

2018
Entrez Id: 133686
Gene Symbol: NADK2
NADK2
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		0.600 Biomarker CLINGEN Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient. 27940755

2016
Entrez Id: 133686
Gene Symbol: NADK2
NADK2
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		0.600 Biomarker CLINGEN Identification and characterization of a human mitochondrial NAD kinase. 23212377

2012
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. 24549042

2014
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. 18996107

2009
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. 16176262

2005
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. 19706438

2009
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 20077426

2010
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN This confirms that MHBD deficiency is caused by mutations in the HADH2 gene. 12696021

2003
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 22132097

2011
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN Characterization and localization of human type10 17beta-hydroxysteroid dehydrogenase. 11559359

2001
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein. 28888424

2017
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker CLINGEN Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. 16317551

2006
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker CLINGEN Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker CLINGEN Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. 12837870

2003
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker CLINGEN 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527

2008
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker CLINGEN 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. 17883863

2007
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker CLINGEN Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. 11013134

2000
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. 29719671

2018
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene. 30302388

2019
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminals. 26725465

2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism. 27161151

2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. 21606927

2012
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID. 26045941

2015