Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4967
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Oxoglutarate dehydrogenase |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
OGDH |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
AKGDH, E1k, E1o, HsOGDH, KGD1, OGDC, OGDH-E1, OGDH2, OGDHD |
Chromosome
Chromosome number
|
7 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
7p13 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Congenital lactic acidosis |
Congenital lactic acidosis |
rs119466000, rs797044605, rs863224052, rs863224053, rs863225443, rs863225444, rs863225445, rs769022521, rs1060499785, rs762254417, rs1553400685, rs1553403596, rs1553411748, rs1453934366, rs1160846305, rs1553388067, rs1553391303, rs1202515342, rs1553398334, rs1553400391, rs1301842578, rs1553403303, rs1553403879, rs1166980943, rs1553400727, rs750343121, rs1553406772, rs752914914, rs1553404194, rs775735922, rs1553416989, rs1553410866, rs1553410995, rs1553411751, rs1553413047, rs1475772376, rs1300725076, rs1553396232, rs774934005, rs896524026, rs1553408603, rs1553410852, rs1553410876, rs1249427615, rs989113962, rs1558936154, rs863224054, rs1591117575, rs758615834, rs760186575 View all (35 more) |
|
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 View all (32 more) |
|
Hydrocephalus |
Hydrocephalus |
rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Oxoglutaricaciduria |
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, oxoglutaricaciduria |
|
27604308 |
ClinVar, GenCC |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acute Coronary Syndrome |
Stimulate
|
20226836 |
Alzheimer Disease |
Inhibit
|
8020988 |
Barth Syndrome |
Associate
|
30251684 |
Basal Ganglia Diseases |
Associate
|
26637184 |
Bipolar Disorder |
Associate
|
35821008 |
Carcinoma Renal Cell |
Associate
|
33564363 |
Colorectal Neoplasms |
Associate
|
28105922, 36879117 |
Demyelinating Diseases |
Associate
|
26637184 |
Depressive Disorder Major |
Associate
|
35821008 |
Glioblastoma |
Associate
|
27027236 |
Hepatitis C |
Associate
|
27769799 |
Neoplasms |
Associate
|
27027236 |
Nerve Degeneration |
Associate
|
23152800 |
Pyruvate Dehydrogenase Complex Deficiency Disease |
Associate
|
24341803 |
Thyroid Carcinoma Anaplastic |
Associate
|
26680454 |
|