×
Entrez Id:
133686
Gene Symbol:
NADK2
NADK2
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
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
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
2,4-Dienoyl-CoA Reductase Deficiency
0.600
Biomarker
CLINGEN
Identification and characterization of a human mitochondrial NAD kinase.
23212377
2012
HSD17B10
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
HSD17B10
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
HSD17B10
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
HSD17B10
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
HSD17B10
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
HSD17B10
2-methyl-3-hydroxybutyric aciduria
0.750
Biomarker
CLINGEN
This confirms that MHBD deficiency is caused by mutations in the HADH2 gene.
12696021
2003
HSD17B10
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
HSD17B10
2-methyl-3-hydroxybutyric aciduria
0.750
Biomarker
CLINGEN
Characterization and localization of human type10 17beta-hydroxysteroid dehydrogenase.
11559359
2001
HSD17B10
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
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
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
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
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
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
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
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
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
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
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
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
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