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G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27469509 |
|
NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
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G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
|
ISO |
L-2-hydroxyglutaricacidemia DNA:mutations:exons:c.169G>A,c.542G>T(human) DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) CTD Direct Evidence: marker/mechanism |
RGD OMIA CTD |
PMID:11708646 PMID:12892272 PMID:12892307 PMID:15385440 PMID:15548604 PMID:15715007 PMID:17475916 PMID:18295785 PMID:20852250 PMID:21937992 PMID:22834903 PMID:22843824 PMID:24830757 PMID:24894778 PMID:25763823 PMID:26208971 PMID:27729589 More...
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RGD:13506814 RGD:13506815 RGD:13506818 |
NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098
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G |
Slc25a1 |
solute carrier family 25 member 1 |
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ISO |
ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria |
ClinVar |
PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 PMID:29238895 More...
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NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
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G |
Slc25a1 |
solute carrier family 25 member 1 |
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ISO |
ClinVar Annotator: match by term: D,L-2-hydroxyglutaric aciduria |
OMIM ClinVar |
PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 PMID:29031613 PMID:29238895 More...
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NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
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G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
treatment |
ISO |
DNA:mutation:cds:p.R140Q(mouse) |
RGD |
PMID:27469509 |
RGD:13506812 |
NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
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G |
Agxt |
alanine--glyoxylate and serine--pyruvate aminotransferase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741
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G |
Ankmy1 |
ankyrin repeat and MYND domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:910,258...943,546
Ensembl chrNW_004955542:910,251...943,389
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G |
Asb1 |
ankyrin repeat and SOCS box containing 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,243,381...2,255,747
Ensembl chrNW_004955542:2,243,381...2,255,747
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G |
Atg4b |
autophagy related 4B cysteine peptidase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:164,969...192,498
Ensembl chrNW_004955542:166,365...193,006
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G |
Bok |
BCL2 family apoptosis regulator BOK |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:224,471...232,401
Ensembl chrNW_004955542:224,471...232,428
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G |
Capn10 |
calpain 10 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:874,083...885,085
Ensembl chrNW_004955542:874,083...885,084
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062
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G |
Cops9 |
COP9 signalosome subunit 9 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:1,131,110...1,135,871
Ensembl chrNW_004955542:1,131,110...1,135,871
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G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
OMIM ClinVar |
PMID:7609436 PMID:9536098 PMID:15609246 PMID:16037974 PMID:16081310 PMID:16199547 PMID:16442322 PMID:17576681 PMID:18414213 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:22391998 PMID:24715439 PMID:25741868 PMID:26178471 PMID:28135719 PMID:28492532 PMID:30848064 PMID:30908763 PMID:31488895 PMID:33431826 More...
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NCBI chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444
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G |
Dtymk |
deoxythymidylate kinase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:155,741...163,759
Ensembl chrNW_004955542:155,742...163,759
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G |
Dusp28 |
dual specificity phosphatase 28 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:909,239...911,139
Ensembl chrNW_004955542:909,917...910,646
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G |
Erfe |
erythroferrone |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,408,504...2,415,522
Ensembl chrNW_004955542:2,409,988...2,415,522
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G |
Espnl |
espin like |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,430,610...2,453,738
Ensembl chrNW_004955542:2,430,712...2,453,361
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G |
Farp2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:279,489...395,524
Ensembl chrNW_004955542:280,008...379,166
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G |
Gal3st2 |
galactose-3-O-sulfotransferase 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:82,972...94,041
Ensembl chrNW_004955542:84,629...87,356
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G |
Gjb1 |
gap junction protein beta 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:8004109 PMID:9361298 PMID:10102421 PMID:10207904 PMID:10848620 PMID:11571214 PMID:21291455 PMID:25741868 PMID:27544631 PMID:28071741 PMID:28469099 PMID:28492532 PMID:31220874 PMID:31323543 PMID:31842800 PMID:32376792 PMID:33314704 More...
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NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
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G |
Gpc1 |
glypican 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:947,556...968,295
Ensembl chrNW_004955542:947,556...968,295
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G |
Gpr35 |
G protein-coupled receptor 35 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:851,895...856,688
Ensembl chrNW_004955542:851,895...856,688
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G |
Hdac4 |
histone deacetylase 4 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210
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G |
Hdlbp |
high density lipoprotein binding protein |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:444,221...505,512
Ensembl chrNW_004955542:444,258...510,065
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G |
Hes6 |
hes family bHLH transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,373,241...2,374,827
Ensembl chrNW_004955542:2,373,370...2,374,272
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G |
Ilkap |
ILK associated serine/threonine phosphatase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,391,432...2,407,559
Ensembl chrNW_004955542:2,391,431...2,408,732
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G |
Ing5 |
inhibitor of growth family member 5 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:135,634...160,991
Ensembl chrNW_004955542:132,560...148,138
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G |
Kif1a |
kinesin family member 1A |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:756,834...832,805
Ensembl chrNW_004955542:756,835...832,889
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G |
Klhl30 |
kelch like family member 30 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,418,399...2,427,571
Ensembl chrNW_004955542:2,418,324...2,428,062
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G |
Lrrfip1 |
LRR binding FLII interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,632,933...2,737,922
Ensembl chrNW_004955542:2,632,933...2,686,865
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G |
Mab21l4 |
mab-21 like 4 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:699,717...708,760
Ensembl chrNW_004955542:701,633...709,315
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G |
Mlph |
melanophilin |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,769,709...2,807,768
Ensembl chrNW_004955542:2,769,649...2,802,672
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G |
Mterf4 |
mitochondrial transcription termination factor 4 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:579,183...584,617
Ensembl chrNW_004955542:579,356...584,508
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G |
Ndufa10 |
NADH:ubiquinone oxidoreductase subunit A10 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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|
NCBI chrNW_004955542:1,329,802...1,370,109
Ensembl chrNW_004955542:1,329,212...1,370,695
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G |
Neu4 |
neuraminidase 4 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:66,214...70,456
Ensembl chrNW_004955542:66,174...71,058
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G |
Otos |
otospiralin |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:1,128,036...1,129,445
Ensembl chrNW_004955542:1,128,036...1,129,445
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G |
Pask |
PAS domain containing serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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|
NCBI chrNW_004955542:539,806...578,496
Ensembl chrNW_004955542:555,030...578,227
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G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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|
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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G |
Per2 |
period circadian regulator 2 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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|
NCBI chrNW_004955542:2,331,547...2,369,011
Ensembl chrNW_004955542:2,338,099...2,371,274
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G |
Ppp1r7 |
protein phosphatase 1 regulatory subunit 7 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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|
NCBI chrNW_004955542:520,605...539,699
|
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G |
Prlh |
prolactin releasing hormone |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,765,578...2,768,057
Ensembl chrNW_004955542:2,765,566...2,766,371
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G |
Rab17 |
RAB17, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,751,953...2,759,661
|
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G |
Ramp1 |
receptor activity modifying protein 1 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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|
NCBI chrNW_004955542:2,530,349...2,564,072
|
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G |
Rbm44 |
RNA binding motif protein 44 |
|
ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
|
|
NCBI chrNW_004955542:2,573,648...2,620,240
Ensembl chrNW_004955542:2,571,203...2,620,313
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Rnpepl1 |
arginyl aminopeptidase like 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:897,708...906,011
Ensembl chrNW_004955542:898,462...906,703
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Scly |
selenocysteine lyase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,453,826...2,472,951
Ensembl chrNW_004955542:2,454,708...2,472,851
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Septin2 |
septin 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:401,081...444,304
Ensembl chrNW_004955542:401,081...443,962
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Sned1 |
sushi, nidogen and EGF like domains 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:587,159...628,159
Ensembl chrNW_004955542:589,746...627,519
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Stk25 |
serine/threonine kinase 25 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:268,406...279,323
Ensembl chrNW_004955542:272,715...280,110
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Thap4 |
THAP domain containing 4 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:192,888...217,985
Ensembl chrNW_004955542:195,088...217,831
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Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,264,472...2,301,083
Ensembl chrNW_004955542:2,265,901...2,301,215
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Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:1,959,765...2,000,665
Ensembl chrNW_004955542:1,959,765...2,000,665
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Ube2f |
ubiquitin conjugating enzyme E2 F (putative) |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chrNW_004955542:2,480,455...2,515,982
Ensembl chrNW_004955542:2,480,455...2,515,986
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Abhd2 |
abhydrolase domain containing 2, acylglycerol lipase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,878,972...15,983,322
Ensembl chrNW_004955416:15,884,624...15,983,322
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Acan |
aggrecan |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:16,125,536...16,186,046
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Anpep |
alanyl aminopeptidase, membrane |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,415,981...15,442,032
Ensembl chrNW_004955416:15,424,932...15,444,075
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Blm |
BLM RecQ like helicase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:14,814,753...14,899,865
Ensembl chrNW_004955416:14,842,033...14,899,687
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Cib1 |
calcium and integrin binding 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,102,632...15,106,372
Ensembl chrNW_004955416:15,102,632...15,106,372
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Crtc3 |
CREB regulated transcription coactivator 3 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:14,672,291...14,768,879
Ensembl chrNW_004955416:14,672,291...14,765,893
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Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480
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Fes |
FES proto-oncogene, tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:14,948,121...14,959,035
Ensembl chrNW_004955416:14,948,123...14,960,005
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Furin |
furin, paired basic amino acid cleaving enzyme |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:14,915,031...14,947,634
Ensembl chrNW_004955416:14,936,546...14,949,252
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Gdpgp1 |
GDP-D-glucose phosphorylase 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,098,922...15,102,499
Ensembl chrNW_004955416:15,098,922...15,102,499
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Hapln3 |
hyaluronan and proteoglycan link protein 3 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:16,105,937...16,122,114
Ensembl chrNW_004955416:16,105,772...16,122,139
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Hddc3 |
HD domain containing 3 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:14,993,492...14,995,818
Ensembl chrNW_004955416:14,990,031...14,995,818
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Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:30975432 PMID:34641967 More...
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NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
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Iqgap1 |
IQ motif containing GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:14,558,628...14,652,031
Ensembl chrNW_004955416:14,560,292...14,650,036
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Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985
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LOC102024459 |
arpin |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,340,070...15,399,017
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Man2a2 |
mannosidase alpha class 2A member 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:14,961,405...14,990,284
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Mesp2 |
mesoderm posterior bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,447,959...15,450,209
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Mfge8 |
milk fat globule EGF and factor V/VIII domain containing |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:16,092,263...16,103,097
Ensembl chrNW_004955416:16,091,684...16,103,768
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Ngrn |
neugrin, neurite outgrowth associated |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,074,190...15,080,561
Ensembl chrNW_004955416:15,074,190...15,080,561
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Pex11a |
peroxisomal biogenesis factor 11 alpha |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,527,925...15,537,497
Ensembl chrNW_004955416:15,527,941...15,534,424
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Plin1 |
perilipin 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,538,309...15,549,275
Ensembl chrNW_004955416:15,533,268...15,549,772
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Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
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Prc1 |
protein regulator of cytokinesis 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,023,620...15,045,958
Ensembl chrNW_004955416:15,023,620...15,045,958
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Rccd1 |
RCC1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,013,595...15,020,038
Ensembl chrNW_004955416:15,014,340...15,019,173
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Rhcg |
Rh family C glycoprotein |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,639,425...15,657,708
Ensembl chrNW_004955416:15,639,551...15,654,293
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Rlbp1 |
retinaldehyde binding protein 1 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,862,510...15,873,261
Ensembl chrNW_004955416:15,862,426...15,873,327
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Sema4b |
semaphorin 4B |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,107,258...15,143,338
Ensembl chrNW_004955416:15,108,175...15,130,746
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Ticrr |
TOPBP1 interacting checkpoint and replication regulator |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,572,789...15,615,556
Ensembl chrNW_004955416:15,572,331...15,615,603
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Unc45a |
unc-45 myosin chaperone A |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:14,999,692...15,012,581
Ensembl chrNW_004955416:14,999,375...15,012,581
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Vps33b |
VPS33B late endosome and lysosome associated |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,049,849...15,071,108
Ensembl chrNW_004955416:15,048,106...15,071,102
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Wdr93 |
WD repeat domain 93 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,472,866...15,527,853
Ensembl chrNW_004955416:15,472,742...15,517,144
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Znf710 |
zinc finger protein 710 |
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ISO |
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:15,215,542...15,278,742
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Dmac2l |
distal membrane arm assembly component 2 like |
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ISO |
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chrNW_004955409:12,473,891...12,485,066
Ensembl chrNW_004955409:12,474,063...12,484,984
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L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition |
OMIM ClinVar |
PMID:9536098 PMID:15385440 PMID:15548604 PMID:16134148 PMID:16199547 PMID:17576681 PMID:18362286 PMID:18414213 PMID:18415700 PMID:18780161 PMID:19863265 PMID:19911013 PMID:20052767 PMID:21937992 PMID:22030381 PMID:24573090 PMID:25033591 PMID:25741868 PMID:26467025 PMID:26829733 PMID:28492532 PMID:29458334 PMID:32626804 PMID:33061758 More...
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NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098
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Sos2 |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria |
ClinVar |
PMID:15385440 |
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NCBI chrNW_004955409:12,542,353...12,622,165
Ensembl chrNW_004955409:12,542,401...12,620,971
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Vcpkmt |
valosin containing protein lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria |
ClinVar |
PMID:15385440 |
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NCBI chrNW_004955409:12,622,259...12,632,246
Ensembl chrNW_004955409:12,622,259...12,632,246
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