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G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria |
ClinVar |
PMID:25741868 |
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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Auh |
AU RNA binding methylglutaconyl-CoA hydratase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 |
OMIM ClinVar |
PMID:6181239 PMID:9536098 PMID:10070612 PMID:10626578 PMID:10896289 PMID:12434311 PMID:12655555 PMID:15033206 PMID:16199547 PMID:16354225 PMID:16640564 PMID:17130438 PMID:17576681 PMID:20855850 PMID:20882351 PMID:21840233 PMID:24598254 PMID:25741868 PMID:28438368 PMID:28492532 PMID:32778825 More...
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NCBI chr17:12,329,522...12,424,896
Ensembl chr17:12,329,524...12,424,896
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Nfil3 |
nuclear factor, interleukin 3 regulated |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr17:12,280,499...12,295,728
Ensembl chr17:12,280,484...12,295,858
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Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 |
OMIM ClinVar |
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:17576681 PMID:18985435 PMID:20301646 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 More...
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NCBI chr 1:78,881,392...78,899,549 NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
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Ccdc39 |
coiled-coil domain containing 39 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
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G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
OMIM ClinVar |
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27426421 PMID:27928778 PMID:28492532 PMID:29625556 PMID:34008892 More...
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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G |
Fxr1 |
FMR1 autosomal homolog 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr 2:116,884,167...116,937,586
Ensembl chr 2:116,884,248...116,937,590
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Clpb |
caseinolytic mitochondrial matrix peptidase chaperone subunit B |
|
ISO |
ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 |
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NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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G |
Clpb |
caseinolytic mitochondrial matrix peptidase chaperone subunit B |
|
ISO |
|
OMIM |
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NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Htra2 |
HtrA serine peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27208207 PMID:27696117 PMID:28492532 More...
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NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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Loxl3 |
lysyl oxidase-like 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:27208207 PMID:28492532 |
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NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466
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Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 |
OMIM ClinVar |
PMID:25741868 PMID:27573165 PMID:28492532 PMID:30190335 PMID:31058414 PMID:32369862 More...
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NCBI chr 1:83,574,872...83,582,769
Ensembl chr 1:83,556,757...83,582,793
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Anapc15 |
anaphase promoting complex subunit 15 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145
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Arap1 |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,748,622...155,814,186
Ensembl chr 1:155,748,652...155,814,184
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G |
Arhgef17 |
Rho guanine nucleotide exchange factor 17 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,230,607...155,290,581
Ensembl chr 1:155,233,168...155,290,498
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G |
Arrb1 |
arrestin, beta 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
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Atg16l2 |
autophagy related 16-like 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,687,386...155,703,419
Ensembl chr 1:155,684,564...155,703,420
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C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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G |
Chrdl2 |
chordin-like 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,343,201...154,370,651
Ensembl chr 1:154,343,201...154,370,640
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G |
Clpb |
caseinolytic mitochondrial matrix peptidase chaperone subunit B |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:27891836 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32219827 PMID:32313153 PMID:32573439 PMID:34115842 PMID:34140661 PMID:34782754 PMID:35616898 More...
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NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Coa4 |
cytochrome c oxidase assembly factor 4 homolog |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,882,199...154,885,445
Ensembl chr 1:154,882,155...154,888,174
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Dhcr7 |
7-dehydrocholesterol reductase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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G |
Dnajb13 |
DnaJ heat shock protein family (Hsp40) member B13 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
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Fam168a |
family with sequence similarity 168, member A |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220
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Fchsd2 |
FCH and double SH3 domains 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,444,471...155,685,539
Ensembl chr 1:155,444,460...155,685,539
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Folr1 |
folate receptor alpha |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
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G |
Folr2 |
folate receptor beta |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
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Gdpd5 |
glycerophosphodiester phosphodiesterase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,679,718...153,761,452
Ensembl chr 1:153,679,718...153,761,446
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Il18bp |
interleukin 18 binding protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Inppl1 |
inositol polyphosphate phosphatase-like 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
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Kcne3 |
potassium voltage-gated channel subfamily E regulatory subunit 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
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Klhl35 |
kelch-like family member 35 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,767,138...153,773,550
Ensembl chr 1:153,767,970...153,773,557
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Krtap5-8 |
keratin associated protein 5-8 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817
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Lamtor1 |
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179
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Lipt2 |
lipoyl(octanoyl) transferase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890
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Lrtomt |
leucine rich transmembrane and O-methyltransferase domain containing |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704
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Mir139 |
microRNA 139 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
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Mir326 |
microRNA 326 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
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Mrpl48 |
mitochondrial ribosomal protein L48 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,896,663...154,939,285
Ensembl chr 1:154,896,663...154,939,281
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Nadsyn1 |
NAD synthetase 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,981,559...199,009,806
Ensembl chr 1:198,981,604...199,009,869
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Neu3 |
neuraminidase 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813
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Numa1 |
nuclear mitotic apparatus protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
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Olr35 |
olfactory receptor 35 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,994,678...154,043,281
Ensembl chr 1:154,041,306...154,043,257
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P2ry2 |
purinergic receptor P2Y2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
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P2ry6 |
pyrimidinergic receptor P2Y6 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,295,110...155,330,610
Ensembl chr 1:155,295,111...155,330,808
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P4ha3 |
prolyl 4-hydroxylase subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775
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Pde2a |
phosphodiesterase 2A |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
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Pgm2l1 |
phosphoglucomutase 2-like 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,571,410...154,620,902
Ensembl chr 1:154,571,766...154,620,902
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Phox2a |
paired-like homeobox 2a |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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Plekhb1 |
pleckstrin homology domain containing B1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,998,798...155,013,094
Ensembl chr 1:154,998,800...155,016,142
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Pold3 |
DNA polymerase delta 3, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,417,893...154,456,687
Ensembl chr 1:154,418,084...154,456,665
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Ppme1 |
protein phosphatase methylesterase 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,668,099...154,715,079
Ensembl chr 1:154,668,109...154,715,110
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Rab6a |
RAB6A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,957,870...155,008,922
Ensembl chr 1:154,958,189...154,996,715
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Relt |
RELT, TNF receptor |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
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Rnf121 |
ring finger protein 121 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,377,583...156,439,923
Ensembl chr 1:156,377,364...156,446,826
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G |
Rnf169 |
ring finger protein 169 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,250,462...154,311,867
Ensembl chr 1:154,254,473...154,311,653
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Rps3 |
ribosomal protein S3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680
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G |
Serpinh1 |
serpin family H member 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
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G |
Snord15a |
small nucleolar RNA, C/D box 15A |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:153,782,788...153,782,935
Ensembl chr 1:153,782,788...153,782,935
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G |
Spcs2 |
signal peptidase complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:154,163,724...154,183,152
Ensembl chr 1:154,163,724...154,183,186
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Stard10 |
StAR-related lipid transfer domain containing 10 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,722,637...155,748,007
Ensembl chr 1:155,718,389...155,747,094
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Tpbgl |
trophoblast glycoprotein-like |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,922,694...153,926,690
Ensembl chr 1:153,925,098...153,926,252
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G |
Ucp2 |
uncoupling protein 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Ucp3 |
uncoupling protein 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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Xrra1 |
X-ray radiation resistance associated 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,183,330...154,247,883
Ensembl chr 1:154,183,377...154,247,895
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Acat2 |
acetyl-CoA acetyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
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Agpat4 |
1-acylglycerol-3-phosphate O-acyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,525,131...48,633,798
Ensembl chr 1:48,527,323...48,633,345
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Dynlt1 |
dynein light chain Tctex-type 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881
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G |
Ezr |
ezrin |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
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Fndc1 |
fibronectin type III domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259
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Gtf2h5 |
general transcription factor IIH subunit 5 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
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Igf2r |
insulin-like growth factor 2 receptor |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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G |
Map3k4 |
mitogen activated protein kinase kinase kinase 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358
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Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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Mrpl18 |
mitochondrial ribosomal protein L18 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,837,169...47,841,987
Ensembl chr 1:47,836,561...47,841,987
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Plg |
plasminogen |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Pnldc1 |
PARN like ribonuclease domain containing exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
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Prkn |
parkin RBR E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Rsph3 |
radial spoke head 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
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Serac1 |
serine active site containing 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
OMIM ClinVar |
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:26863999 PMID:27290639 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:29205472 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 More...
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NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
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Slc22a1 |
solute carrier family 22 member 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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G |
Slc22a2 |
solute carrier family 22 member 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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G |
Slc22a3 |
solute carrier family 22 member 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,235,476...48,324,617
Ensembl chr 1:48,235,476...48,324,612
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sytl3 |
synaptotagmin-like 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460
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G |
Tagap |
T-cell activation RhoGTPase activating protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
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G |
Tcp1 |
t-complex 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,829,061...47,836,809
Ensembl chr 1:47,828,652...47,836,839
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G |
Tmem181 |
transmembrane protein 181 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295
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G |
Tulp4 |
TUB like protein 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688
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G |
Wtap |
WT1 associated protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,665,965...47,691,067
Ensembl chr 1:47,665,965...47,691,065
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Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,633,501...151,636,000
Ensembl chr X:151,633,522...151,635,989
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Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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Bgn |
biglycan |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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Brcc3 |
BRCA1/BRCA2-containing complex, subunit 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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G |
Ccnq |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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G |
Clic2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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G |
Cmc4 |
C-X9-C motif containing 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
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G |
Ctag2 |
cancer/testis antigen 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
ClinVar |
PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11238270 PMID:11748843 PMID:11968085 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17576681 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23409742 PMID:23660394 PMID:24033266 PMID:24365856 PMID:24962355 PMID:25652404 PMID:25741868 PMID:26471271 PMID:26845103 PMID:28492532 PMID:29334594 PMID:31333075 PMID:31568572 More...
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NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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G |
Dusp9 |
dual specificity phosphatase 9 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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G |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F8a1 |
coagulation factor VIII-associated 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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G |
Fam50a |
family with sequence similarity 50, member A |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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G |
Fkbp1a |
FKBP prolyl isomerase 1A |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Fundc2 |
FUN14 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
H2ab3 |
H2A.B variant histone 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:82,362,633...82,362,983
Ensembl chr X:82,362,633...82,362,983
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G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lage3 |
L antigen family, member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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G |
LOC103694532 |
uncharacterized LOC103694532 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Mest |
mesoderm specific transcript |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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|
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G |
Mtcp1 |
mature T-cell proliferation 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:126,189...130,123
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,905,096...151,925,322
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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G |
Pnma3 |
PNMA family member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
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G |
Pnma5 |
PNMA family member 5 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
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G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Rpl10 |
ribosomal protein L10 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,054,547...152,056,757
Ensembl chr X:152,054,452...152,056,761
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G |
Slc10a3 |
solute carrier family 10, member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9384614 PMID:9536098 PMID:10480214 PMID:10484795 PMID:11238270 PMID:11735032 PMID:11748843 PMID:11968085 PMID:12032589 PMID:12468278 PMID:12529714 PMID:12930833 PMID:14654353 PMID:14662265 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16601897 PMID:16684786 PMID:16873891 PMID:16880272 PMID:17394203 PMID:17576681 PMID:18430085 PMID:19037987 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:19846429 PMID:20530761 PMID:20730588 PMID:20812380 PMID:21300850 PMID:21659346 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23361305 PMID:23409742 PMID:23606313 PMID:23656970 PMID:23660394 PMID:24033266 PMID:24342716 PMID:24365856 PMID:24813252 PMID:24887148 PMID:24962355 PMID:25112388 PMID:25185984 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26471271 PMID:26724946 PMID:26845103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:28855170 PMID:29077208 PMID:29089047 PMID:29247119 PMID:29334594 PMID:30471092 PMID:31333075 PMID:31568572 PMID:32619718 PMID:33500567 PMID:34906502 More...
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NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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G |
Trex2 |
three prime repair exonuclease 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
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G |
Ubl4a |
ubiquitin-like 4A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
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G |
Vbp1 |
VHL binding protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Zfp185 |
zinc finger protein 185 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
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G |
Zfp92 |
ZFP92 zinc finger protein |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
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G |
Acsf3 |
acyl-CoA synthetase family member 3 |
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ISO |
ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia |
OMIM ClinVar |
PMID:9030548 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21785126 PMID:21841779 PMID:22421630 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26827111 PMID:26915364 PMID:28492532 PMID:29144512 PMID:29555771 PMID:29858964 PMID:30041674 PMID:30487145 PMID:30609409 PMID:30740739 PMID:31376476 PMID:31462756 PMID:33223529 More...
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NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Dld |
dihydrolipoamide dehydrogenase |
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ISO |
ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 |
OMIM ClinVar |
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9536098 PMID:9540846 PMID:9934985 PMID:10448086 PMID:11186938 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16199547 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17125710 PMID:17404228 PMID:17576681 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:21996136 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:25741884 PMID:27144126 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532 PMID:31334547 PMID:31683770 PMID:33092611 PMID:33306821 More...
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NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
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Slc26a3 |
solute carrier family 26 member 3 |
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ISO |
ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to |
ClinVar |
PMID:8968745 PMID:9934985 PMID:28492532 |
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NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
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G |
Acadvl |
acyl-CoA dehydrogenase, very long chain |
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ISO |
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RGD |
PMID:15840571 |
RGD:10047115 |
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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G |
Acp5 |
acid phosphatase 5, tartrate resistant |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
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G |
Angptl8 |
angiopoietin-like 8 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490
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G |
Best2 |
bestrophin 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,141,602...23,148,351
Ensembl chr19:23,141,602...23,148,339
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Calr |
calreticulin |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Carm1 |
coactivator-associated arginine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
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G |
Ccdc159 |
coiled-coil domain containing 159 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,457,905...20,467,232
Ensembl chr 8:20,457,909...20,466,562
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G |
Cnn1 |
calponin 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,632,434...20,641,097
Ensembl chr 8:20,632,338...20,641,098
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G |
Dand5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
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G |
Dhps |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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G |
Dnase2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376
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G |
Dnm2 |
dynamin 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Ecsit |
ECSIT signaling integrator |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,605,583...20,618,453
Ensembl chr 8:20,605,583...20,618,390
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G |
Elavl3 |
ELAV like RNA binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641
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G |
Elof1 |
elongation factor 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,645,336...20,650,888
Ensembl chr 8:20,645,336...20,650,579
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G |
Epor |
erythropoietin receptor |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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G |
Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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G |
Fbxw9 |
F-box and WD repeat domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
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G |
Gadd45gip1 |
GADD45G interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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G |
Gcdh |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:1951469 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 PMID:8900228 PMID:9266361 PMID:9536098 PMID:9600243 PMID:9711871 PMID:9856558 PMID:9881681 PMID:10066389 PMID:10371528 PMID:10384381 PMID:10649503 PMID:10699052 PMID:10759157 PMID:10960496 PMID:11015709 PMID:11024031 PMID:11058907 PMID:11073722 PMID:11174631 PMID:11508549 PMID:11825066 PMID:11854167 PMID:12199454 PMID:12210585 PMID:12473778 PMID:12872844 PMID:12948740 PMID:14691600 PMID:14707522 PMID:15248096 PMID:15318278 PMID:15505393 PMID:15505400 PMID:15573311 PMID:15954035 PMID:16183314 PMID:16199547 PMID:16377226 PMID:16466958 PMID:16488172 PMID:16602100 PMID:16641220 PMID:17188916 PMID:17478444 PMID:17576681 PMID:17622945 PMID:17642054 PMID:17661081 PMID:18285246 PMID:18304851 PMID:18411069 PMID:18459892 PMID:18683078 PMID:18775954 PMID:18926513 PMID:19167251 PMID:19433275 PMID:19433437 PMID:19486177 PMID:19630565 PMID:20084589 PMID:20514322 PMID:20629163 PMID:20732827 PMID:20836999 PMID:20960650 PMID:20978942 PMID:21031586 PMID:21176883 PMID:21228398 PMID:21811973 PMID:21912879 PMID:22106832 PMID:22231382 PMID:22728054 PMID:23104440 PMID:23225040 PMID:23395213 PMID:23884036 PMID:24332224 PMID:24795062 PMID:24973495 PMID:25087612 PMID:25190159 PMID:25204480 PMID:25255367 PMID:25256449 PMID:25590979 PMID:25735478 PMID:25741868 PMID:25762492 PMID:25863083 PMID:26071121 PMID:26316201 PMID:26589311 PMID:26593172 PMID:26633542 PMID:26656312 PMID:26847429 PMID:27243974 PMID:27250579 PMID:27351573 PMID:27397597 PMID:27476540 PMID:27629047 PMID:27672653 PMID:27896087 PMID:28062662 PMID:28143689 PMID:28302372 PMID:28352331 PMID:28389991 PMID:28411331 PMID:28438223 PMID:28492532 PMID:28781846 PMID:28794906 PMID:28991257 PMID:29086383 PMID:29201125 PMID:29292490 PMID:29419857 PMID:29665094 PMID:30203563 PMID:30217722 PMID:30298489 PMID:30512148 PMID:30570710 PMID:30838298 PMID:31062211 PMID:31130284 PMID:31302874 PMID:31319225 PMID:31491587 PMID:31536184 PMID:31589614 PMID:31788423 PMID:31952437 PMID:32005694 PMID:32240488 PMID:32508882 PMID:32778825 PMID:32992790 PMID:33064266 PMID:33116287 PMID:33123633 PMID:33138774 PMID:33728242 PMID:34207159 PMID:34258142 PMID:34306040 PMID:34344405 PMID:34394177 PMID:34504725 PMID:35281663 PMID:28545977 More...
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RGD:13515124 |
NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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G |
Get3 |
guided entry of tail-anchored proteins factor 3, ATPase |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
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G |
Hook2 |
hook microtubule-tethering protein 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
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G |
Ier2 |
immediate early response 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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G |
Kank2 |
KN motif and ankyrin repeat domains 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
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G |
Klf1 |
KLF transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:7795610 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11825066 PMID:11854167 PMID:16602100 PMID:17576681 PMID:19486177 PMID:25735478 PMID:25741868 PMID:27250579 PMID:28492532 PMID:31536184 More...
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NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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Ldlr |
low density lipoprotein receptor |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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G |
LOC100911320 |
zinc finger protein 709-like |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,710,114...20,721,236
Ensembl chr 8:20,710,461...20,720,246
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G |
LOC102546572 |
zinc finger protein 709-like |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:11,846,077...11,868,732
Ensembl chr 7:11,845,560...11,868,717
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G |
LOC102548917 |
zinc finger protein 844-like |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:17,856,860...17,887,122
Ensembl chr16:17,856,878...17,868,403
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G |
LOC102555578 |
zinc finger protein 120-like |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:138,545,521...138,560,500
Ensembl chr 3:138,544,658...138,557,896
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G |
LOC691141 |
hypothetical protein LOC691141 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696
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G |
Lyl1 |
LYL1, basic helix-loop-helix family member |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Man2b1 |
mannosidase, alpha, class 2B, member 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
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MAST1 |
microtubule associated serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
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G |
Nacc1 |
nucleus accumbens associated 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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Nfix |
nuclear factor I X |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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G |
Odad3 |
outer dynein arm docking complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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G |
Prdx2 |
peroxiredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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Prkcsh |
protein kinase C substrate 80K-H |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
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G |
Rab3d |
RAB3D, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,438,622...20,449,269
Ensembl chr 8:20,439,294...20,449,185
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G |
Rad23a |
RAD23 homolog A, nucleotide excision repair protein |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
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G |
Rgl3 |
ral guanine nucleotide dissociation stimulator like 3 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,500,846...20,520,471
Ensembl chr 8:20,500,846...20,520,471
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G |
Rnaseh2a |
ribonuclease H2, subunit A |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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G |
Rtbdn |
retbindin |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Spc24 |
SPC24 component of NDC80 kinetochore complex |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310
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G |
Swsap1 |
SWIM-type zinc finger 7 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,486,680...20,489,213
Ensembl chr 8:20,486,678...20,489,211
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G |
Syce2 |
synaptonemal complex central element protein 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:1951469 PMID:8900227 PMID:8900228 PMID:9536098 PMID:9600243 PMID:9711871 PMID:10371528 PMID:10699052 PMID:10960496 PMID:11058907 PMID:11073722 PMID:11854167 PMID:12948740 PMID:15248096 PMID:15505393 PMID:16602100 PMID:17188916 PMID:17478444 PMID:17576681 PMID:18683078 PMID:18926513 PMID:19486177 PMID:19630565 PMID:21031586 PMID:21176883 PMID:22728054 PMID:23104440 PMID:24973495 PMID:25256449 PMID:25735478 PMID:25741868 PMID:27250579 PMID:27672653 PMID:28302372 PMID:28438223 PMID:28492532 PMID:29201125 PMID:29665094 PMID:31536184 PMID:31952437 PMID:32005694 PMID:34258142 PMID:34344405 More...
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NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
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Timm29 |
translocase of inner mitochondrial membrane 29 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,145,264...20,148,233
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G |
Tmed1 |
transmembrane p24 trafficking protein 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677
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G |
Tmem205 |
transmembrane protein 205 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,452,092...20,458,011
Ensembl chr 8:20,452,092...20,457,828
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G |
Tnpo2 |
transportin 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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G |
Trir |
telomerase RNA component interacting RNase |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
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G |
Trmt1 |
tRNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
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G |
Wdr83 |
WD repeat domain 83 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
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G |
Wdr83os |
WD repeat domain 83 opposite strand |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,075,372...23,076,934
Ensembl chr19:23,075,376...23,076,894
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G |
Yipf2 |
Yip1 domain family, member 2 |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339
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G |
Zfp653 |
zinc finger protein 653 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,586,563...20,605,439
Ensembl chr 8:20,586,563...20,604,864
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G |
Zfp709 |
zinc finger protein 709 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:17,907,599...17,920,047
Ensembl chr16:17,909,641...17,919,700
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G |
Zfp791 |
zinc finger protein 791 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:23,018,418...23,033,580
Ensembl chr19:23,018,918...23,033,504
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G |
Zfp799 |
zinc finger protein 799 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:11,894,224...11,910,809
Ensembl chr 7:11,898,149...11,910,798
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G |
Zfp951 |
zinc finger protein 951 |
|
ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr14:5,032,494...5,048,775
Ensembl chr14:5,033,734...5,048,756
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G |
Ivd |
isovaleryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Isovaleric acidemia, type I | ClinVar Annotator: match by term: Isovaleric acidemia, type II | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency |
OMIM ClinVar |
PMID:1310317 PMID:2063866 PMID:2318964 PMID:9536098 PMID:9665741 PMID:10677295 PMID:10713113 PMID:12767731 PMID:15337167 PMID:15486829 PMID:16199547 PMID:16602101 PMID:16825284 PMID:17027310 PMID:17576084 PMID:17576681 PMID:19089597 PMID:19099814 PMID:20519759 PMID:22004070 PMID:22350545 PMID:22960500 PMID:24019846 PMID:24059531 PMID:24516753 PMID:24637313 PMID:25220015 PMID:25741868 PMID:26018748 PMID:26589311 PMID:26937393 PMID:27629047 PMID:27904153 PMID:28492532 PMID:28535199 PMID:29402417 PMID:30159853 PMID:30838026 PMID:30904546 PMID:31442447 PMID:31589614 PMID:31707166 PMID:32505769 PMID:32778825 PMID:32977617 PMID:33123633 PMID:33496032 PMID:33521113 PMID:33565069 PMID:34535384 PMID:110677295 More...
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NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
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G |
Actmap |
actin maturation protease |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
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G |
Agl |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
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G |
Akt2 |
AKT serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Axl |
Axl receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,265,656...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
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G |
B9d2 |
B9 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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G |
Bcat2 |
branched chain amino acid transaminase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14755340 PMID:14755340 |
RGD:1300291 |
NCBI chr 1:96,040,407...96,060,008
Ensembl chr 1:96,042,625...96,060,007
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G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease |
OMIM ClinVar RGD |
PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2241958 PMID:2703538 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350 PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:14742428 PMID:16199547 PMID:16468966 PMID:16472748 PMID:16786533 PMID:17329260 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:19715473 PMID:19763152 PMID:20136525 PMID:20301495 PMID:20307669 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22145486 PMID:22406018 PMID:22593002 PMID:22727569 PMID:23757202 PMID:23765052 PMID:24033266 PMID:24374108 PMID:24772966 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:26901124 PMID:26937410 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:30228974 PMID:31112740 PMID:31119508 PMID:31523617 PMID:31980395 PMID:31998365 PMID:32005694 PMID:32193832 PMID:32812330 PMID:33300147 PMID:34556729 PMID:8037208 PMID:1943689 More...
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RGD:737779, RGD:734637 |
NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
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G |
Bckdhb |
branched chain keto acid dehydrogenase E1 subunit beta |
|
ISO |
DNA:deletion mutation:exon 1; ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant |
OMIM ClinVar RGD |
PMID:8161368 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 PMID:11112664 PMID:11448970 PMID:11509994 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16199547 PMID:16468966 PMID:16786533 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19282776 PMID:19480318 PMID:20301495 PMID:20307994 PMID:21484869 PMID:22326532 PMID:22350544 PMID:22593002 PMID:22727569 PMID:24374108 PMID:24571530 PMID:24770567 PMID:24772966 PMID:24995870 PMID:25255367 PMID:25333063 PMID:25381949 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26232051 PMID:26239723 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:27507644 PMID:27682710 PMID:28197878 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29307017 PMID:29740478 PMID:29740775 PMID:30228974 PMID:30298499 PMID:31112740 PMID:31119508 PMID:31251765 PMID:31523617 PMID:31610500 PMID:31980395 PMID:32151765 PMID:32193832 PMID:32515140 PMID:32812330 PMID:33131499 PMID:33300147 PMID:33955723 PMID:34556729 PMID:35281663 PMID:2022752 More...
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RGD:1599466 |
NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812
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Blvrb |
biliverdin reductase B |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
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Ccdc97 |
coiled-coil domain containing 97 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
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Cd79a |
CD79a molecule |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Cdc14a |
cell division cycle 14A |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927
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Ceacam4 |
CEA cell adhesion molecule 4 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
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Ceacam6 |
CEA cell adhesion molecule 6 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
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Ceacam9 |
CEA cell adhesion molecule 9 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,405,619...77,410,154
Ensembl chr 1:77,405,619...77,410,155
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Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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Cnfn |
cornifelin |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
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Coq8b |
coenzyme Q8B |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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Cyp2a1 |
cytochrome P450, family 2, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
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Cyp2a3 |
cytochrome P450, family 2, subfamily a, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
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Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Cyp2f4 |
cytochrome P450, family 2, subfamily f, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,416,108...82,429,897
Ensembl chr 1:82,416,130...82,429,896
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Cyp2s1 |
cytochrome P450, family 2, subfamily s, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
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Dbt |
dihydrolipoamide branched chain transacylase E2 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
OMIM ClinVar |
PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9536098 PMID:9621512 PMID:11112664 PMID:14508502 PMID:14517957 PMID:14741190 PMID:16199547 PMID:16468966 PMID:16579849 PMID:16786533 PMID:17576681 PMID:18378174 PMID:19480318 PMID:19823873 PMID:20307994 PMID:20570198 PMID:20639189 PMID:21098507 PMID:22090376 PMID:23313820 PMID:23757202 PMID:24033266 PMID:24268812 PMID:24304607 PMID:24394677 PMID:24772966 PMID:25255367 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26589311 PMID:27243974 PMID:27518768 PMID:27578510 PMID:28417071 PMID:28492532 PMID:28497172 PMID:30228974 PMID:31112740 PMID:31119508 PMID:31980395 PMID:32193832 PMID:32778825 PMID:32812330 PMID:33123633 PMID:33131499 PMID:33868929 PMID:34069211 More...
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NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609
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Dedd2 |
death effector domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
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Dld |
dihydrolipoamide dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
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Dll3 |
delta like canonical Notch ligand 3 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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Dmac2 |
distal membrane arm assembly component 2 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
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Dmrtc2 |
DMRT-like family C2 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
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Dph5 |
diphthamide biosynthesis 5 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:203,804,620...203,858,196
Ensembl chr 2:203,804,936...203,840,433
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Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,479,139...83,497,011
Ensembl chr 1:83,479,147...83,487,169
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Egln2 |
egl-9 family hypoxia-inducible factor 2 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
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Eid2 |
EP300 interacting inhibitor of differentiation 2 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,538,217...83,542,262
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Eid2b |
EP300 interacting inhibitor of differentiation 2B |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
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Elovl4 |
ELOVL fatty acid elongase 4 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
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NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
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Erf |
Ets2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Erich4 |
glutamate-rich 4 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
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Exosc5 |
exosome component 5 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
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Extl2 |
exostosin-like glycosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:203,922,217...203,946,940
Ensembl chr 2:203,922,187...203,943,653
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Fbl |
fibrillarin |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
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Fcgbp |
Fc gamma binding protein |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,374,979...83,413,083
Ensembl chr 1:83,372,127...83,413,083
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Gpr88 |
G-protein coupled receptor 88 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:204,191,443...204,199,576
Ensembl chr 2:204,191,427...204,199,733
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Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
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Gsk3a |
glycogen synthase kinase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
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Hipk4 |
homeodomain interacting protein kinase 4 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
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Hmgn3 |
high mobility group nucleosomal binding domain 3 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
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NCBI chr 8:84,022,493...84,059,329
Ensembl chr 8:84,022,495...84,062,976
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Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U-like 1 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
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Itpkc |
inositol-trisphosphate 3-kinase C |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
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Lamb1 |
laminin subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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Lca5 |
lebercilin LCA5 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
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NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956
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Lgals5 |
galectin 5 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
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Lipe |
lipase E, hormone sensitive type |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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Lrrc39 |
leucine rich repeat containing 39 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:204,516,122...204,535,463
Ensembl chr 2:204,516,123...204,535,463
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Ltbp4 |
latent transforming growth factor beta binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
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Lypd4 |
Ly6/Plaur domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
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Map3k10 |
mitogen activated protein kinase kinase kinase 10 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,955,783...82,974,084
Ensembl chr 1:82,955,207...82,974,084
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Megf8 |
multiple EGF-like-domains 8 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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Mfsd14a |
major facilitator superfamily domain containing 14A |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:204,579,174...204,611,600
Ensembl chr 2:204,579,174...204,659,319
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Mia |
MIA SH3 domain containing |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
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Numbl |
NUMB-like, endocytic adaptor protein |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
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Pafah1b3 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
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Phip |
pleckstrin homology domain interacting protein |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
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NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
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Pld3 |
phospholipase D family, member 3 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,651,856...83,666,046
Ensembl chr 1:83,647,748...83,665,063
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Pou2f2 |
POU class 2 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
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Ppm1k |
protein phosphatase, Mg2+/Mn2+ dependent, 1K |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease, mild variant |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23086801 PMID:28492532 |
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NCBI chr 4:87,612,198...87,638,993
Ensembl chr 4:87,612,204...87,636,152
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Prr19 |
proline rich 19 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
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Prx |
periaxin |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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Psmc4 |
proteasome 26S subunit, ATPase 4 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
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Rab4b |
RAB4B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
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Rabac1 |
Rab acceptor 1 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
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RGD1307554 |
similar to CG16812-PA |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
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Rps16 |
ribosomal protein S16 |
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ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
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G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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G |
Rtca |
RNA 3'-terminal phosphate cyclase |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:204,455,175...204,476,450
Ensembl chr 2:204,455,175...204,476,460
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G |
S1pr1 |
sphingosine-1-phosphate receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681
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G |
Sass6 |
SAS-6 centriolar assembly protein |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:204,546,660...204,578,930
Ensembl chr 2:204,546,660...204,578,927
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G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
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G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
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G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
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G |
Sh3bgrl2 |
SH3 domain binding glutamate-rich protein like 2 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
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NCBI chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564
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G |
Shkbp1 |
Sh3kbp1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
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G |
Slc30a7 |
solute carrier family 30 member 7 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132
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G |
Slc35a3 |
solute carrier family 35 member A3 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
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G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
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G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
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G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,574,872...83,582,769
Ensembl chr 1:83,556,757...83,582,793
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G |
Tmem145 |
transmembrane protein 145 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
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G |
Tmem91 |
transmembrane protein 91 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
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G |
Trmt13 |
tRNA methyltransferase 13 homolog |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:204,533,630...204,547,711
Ensembl chr 2:204,533,632...204,546,843
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G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
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G |
Ttk |
Ttk protein kinase |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 |
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NCBI chr 8:84,754,329...84,792,653
Ensembl chr 8:84,754,315...84,792,651
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
PMID:28492532 |
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NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Zfp11 |
zinc finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
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G |
Zfp526 |
zinc finger protein 526 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
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G |
Zfp574 |
zinc finger protein 574 |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
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G |
Znf780b |
zinc finger protein 780B |
|
ISO |
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
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G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Maple syrup urine disease type 1A |
ClinVar |
PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2241958 PMID:2703538 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350 PMID:10694918 PMID:10745006 PMID:11069910 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:14742428 PMID:16199547 PMID:16468966 PMID:16472748 PMID:16786533 PMID:17329260 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:19715473 PMID:20136525 PMID:20301495 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22593002 PMID:22727569 PMID:23765052 PMID:24374108 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26786177 PMID:26830710 PMID:26901124 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:29306928 PMID:29740775 PMID:31112740 PMID:31119508 PMID:31523617 PMID:31980395 PMID:31998365 PMID:32193832 PMID:32812330 PMID:33300147 More...
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NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
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G |
Bckdhb |
branched chain keto acid dehydrogenase E1 subunit beta |
|
ISO |
ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB | ClinVar Annotator: match by term: Maple syrup urine disease type 1B |
ClinVar |
PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 PMID:11112664 PMID:11448970 PMID:11509994 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16468966 PMID:16786533 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19282776 PMID:19480318 PMID:20301495 PMID:20307994 PMID:21484869 PMID:22593002 PMID:22727569 PMID:24374108 PMID:24772966 PMID:24995870 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26830710 PMID:28197878 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:30228974 PMID:31112740 PMID:31980395 PMID:32812330 PMID:33131499 PMID:34556729 More...
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NCBI chr 8:84,845,264...85,027,812
Ensembl chr 8:84,845,264...85,027,812
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G |
Dbt |
dihydrolipoamide branched chain transacylase E2 |
|
ISO |
ClinVar Annotator: match by term: Intermediate maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease, thiamine-responsive, type II |
ClinVar |
PMID:1847055 PMID:1943690 PMID:1990841 PMID:2010537 PMID:8430702 PMID:9239422 PMID:9536098 PMID:9621512 PMID:14508502 PMID:14517957 PMID:14742428 PMID:16468966 PMID:16579849 PMID:16786533 PMID:17576681 PMID:18378174 PMID:19823873 PMID:20639189 PMID:24772966 PMID:25741868 PMID:26257134 PMID:27578510 PMID:28417071 PMID:28492532 PMID:28497172 PMID:31319225 PMID:31980395 PMID:32812330 More...
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NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609
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G |
Acsf3 |
acyl-CoA synthetase family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Methylmalonic acidemia |
CTD ClinVar |
PMID:9030548 PMID:21785126 PMID:21841779 PMID:22421630 PMID:25741868 PMID:26827111 PMID:26915364 PMID:28492532 PMID:29144512 PMID:29858964 PMID:30041674 PMID:30740739 PMID:31376476 More...
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NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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G |
Cavin1 |
caveolae associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
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NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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G |
Crabp2 |
cellular retinoic acid binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
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NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379
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G |
Cycs |
cytochrome c, somatic |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
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NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
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G |
Gpd2 |
glycerol-3-phosphate dehydrogenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
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NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
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G |
Mcee |
methylmalonyl CoA epimerase |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
|
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NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484
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G |
Mmaa |
metabolism of cobalamin associated A |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 PMID:17728257 PMID:17957493 PMID:20549364 PMID:21048060 PMID:21114891 PMID:21545677 PMID:22614770 PMID:22661206 PMID:23026888 PMID:23711287 PMID:24033266 PMID:24059531 PMID:24095221 PMID:25525159 PMID:25636100 PMID:25741868 PMID:25748407 PMID:25959030 PMID:26270765 PMID:26370686 PMID:27591164 PMID:28492532 PMID:28497574 PMID:32754920 PMID:33029243 PMID:35618652 More...
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NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319
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G |
Mmab |
metabolism of cobalamin associated B |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
PMID:9536098 PMID:12471062 PMID:15523652 PMID:15781192 PMID:16199547 PMID:16311595 PMID:16410054 PMID:16439175 PMID:17410422 PMID:17576681 PMID:17948227 PMID:17957493 PMID:19625202 PMID:20301409 PMID:20556797 PMID:20696242 PMID:21048060 PMID:21604717 PMID:22614770 PMID:22695176 PMID:23707710 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24813872 PMID:25525159 PMID:25741868 PMID:26589311 PMID:28492532 PMID:29039164 PMID:29197662 PMID:30022420 PMID:31260114 PMID:34796408 More...
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NCBI chr12:42,159,109...42,172,496
Ensembl chr12:42,159,089...42,172,490
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G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria |
ClinVar |
PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 PMID:19370762 PMID:19700356 PMID:25398587 PMID:25672861 PMID:25689098 PMID:25741868 PMID:26825575 PMID:26990548 PMID:28492532 PMID:34356170 More...
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NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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G |
Mmut |
methylmalonyl-CoA mutase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Methylmalonic acidemia |
CTD ClinVar |
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 PMID:2453061 PMID:2661559 PMID:2881300 PMID:7909321 PMID:7912889 PMID:8880917 PMID:8990001 PMID:9285782 PMID:9929975 PMID:10923046 PMID:11350191 PMID:11528502 PMID:12402345 PMID:15643616 PMID:15781192 PMID:15781199 PMID:16199547 PMID:16281286 PMID:16435223 PMID:16490061 PMID:16823967 PMID:17075691 PMID:17113806 PMID:17410422 PMID:17445044 PMID:17470278 PMID:17957493 PMID:19088183 PMID:19375370 PMID:19955418 PMID:20549364 PMID:20603089 PMID:21048060 PMID:21114891 PMID:22614770 PMID:22727635 PMID:23024777 PMID:23045948 PMID:23430940 PMID:23479330 PMID:23729607 PMID:24033266 PMID:24059531 PMID:24464670 PMID:24865477 PMID:25087612 PMID:25125334 PMID:25299208 PMID:25525159 PMID:25689098 PMID:25741868 PMID:25750861 PMID:25771389 PMID:25959030 PMID:26270765 PMID:26420839 PMID:26454439 PMID:26615597 PMID:26790480 PMID:27167370 PMID:27233228 PMID:27489777 PMID:27578510 PMID:27591164 PMID:27751223 PMID:28468868 PMID:28492532 PMID:28811685 PMID:30041674 PMID:30080956 PMID:30209273 PMID:31525265 PMID:31622506 PMID:31757659 PMID:32451238 PMID:33413471 More...
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NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
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G |
Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
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G |
Septin11 |
septin 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
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NCBI chr14:14,844,759...14,990,856
Ensembl chr14:14,844,580...14,990,853
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G |
Septin2 |
septin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
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NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Suclg2 |
succinate-CoA ligase GDP-forming subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
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NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170
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G |
Cenpt |
centromere protein T |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:25741868 PMID:28449119 |
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NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
OMIM ClinVar |
PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 PMID:18414213 PMID:23000143 PMID:23539139 PMID:24011988 PMID:25167861 PMID:25281006 PMID:25740848 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28363510 PMID:28449119 PMID:28492532 PMID:28554332 PMID:35013307 More...
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,905,096...151,925,322
Ensembl chr X:151,905,096...151,925,388
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G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Thap11 |
THAP domain containing 11 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:25741868 PMID:28449119 |
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NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
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Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Arhgap10 |
Rho GTPase activating protein 10 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:30,448,572...30,710,315
Ensembl chr19:30,448,637...30,710,313
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G |
Ednra |
endothelin receptor type A |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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LOC498933 |
LOC498933 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:28,669,059...28,704,512
Ensembl chr19:28,669,059...28,704,508
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Lsm6 |
LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:29,098,254...29,112,858
Ensembl chr13:42,114,032...42,116,484 Ensembl chr19:42,114,032...42,116,484
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Mmaa |
metabolism of cobalamin associated A |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
OMIM ClinVar |
PMID:9536098 PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16199547 PMID:16247646 PMID:17576681 PMID:17728257 PMID:17957493 PMID:20549364 PMID:21048060 PMID:21114891 PMID:21545677 PMID:22614770 PMID:22661206 PMID:23026888 PMID:23711287 PMID:23716945 PMID:24033266 PMID:24059531 PMID:24095221 PMID:25525159 PMID:25636100 PMID:25741868 PMID:25748407 PMID:25959030 PMID:26270765 PMID:26370686 PMID:27591164 PMID:27858373 PMID:28492532 PMID:28497574 PMID:29996803 PMID:31497484 PMID:31622506 PMID:32034731 PMID:32754920 PMID:33029243 PMID:35618652 More...
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NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319
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Mmachc |
metabolism of cobalamin associated C |
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ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY |
ClinVar |
PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19700356 PMID:19760748 PMID:20219402 PMID:20631720 PMID:21055272 PMID:22560872 PMID:23825108 PMID:24577983 PMID:25511120 PMID:25687216 PMID:25741868 PMID:25809485 PMID:26149271 PMID:26283149 PMID:26563984 PMID:28218226 PMID:28492532 PMID:28693988 More...
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NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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Mmut |
methylmalonyl-CoA mutase |
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ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY |
ClinVar |
PMID:15643616 PMID:16281286 PMID:16490061 PMID:17075691 PMID:17113806 PMID:17445044 PMID:17957493 PMID:20549364 PMID:22727635 PMID:24059531 PMID:25741868 PMID:26454439 PMID:27233228 PMID:27489777 PMID:28492532 More...
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NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
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Nr3c2 |
nuclear receptor subfamily 3, group C, member 2 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:30,715,648...31,059,885
Ensembl chr19:30,715,648...31,059,885
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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Pou4f2 |
POU class 4 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:29,486,686...29,490,327
Ensembl chr19:29,486,686...29,490,327
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G |
Prmt9 |
protein arginine methyltransferase 9 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:30,376,342...30,414,491
Ensembl chr19:30,380,124...30,414,458
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Slc10a7 |
solute carrier family 10, member 7 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
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Tmem184c |
transmembrane protein 184C |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:30,345,183...30,361,275
Ensembl chr19:30,345,290...30,361,269
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Ttc29 |
tetratricopeptide repeat domain 29 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:29,531,707...29,750,635
Ensembl chr19:29,532,663...29,750,615
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G |
Zfp827 |
zinc finger protein 827 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type |
ClinVar |
PMID:15523652 PMID:15781192 PMID:28492532 |
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NCBI chr19:28,720,568...28,887,381
Ensembl chr19:28,721,021...28,887,191
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Mmab |
metabolism of cobalamin associated B |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type |
OMIM ClinVar |
PMID:9536098 PMID:12471062 PMID:15044458 PMID:15523652 PMID:15781192 PMID:16199547 PMID:16311595 PMID:16410054 PMID:16439175 PMID:17176040 PMID:17410422 PMID:17576681 PMID:17948227 PMID:17957493 PMID:18251506 PMID:18452306 PMID:19625202 PMID:20301409 PMID:20549364 PMID:20556797 PMID:20696242 PMID:21048060 PMID:21604717 PMID:22614770 PMID:22695176 PMID:23674520 PMID:23707710 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24813872 PMID:25525159 PMID:25741868 PMID:25760844 PMID:26589311 PMID:27591164 PMID:28468868 PMID:28492532 PMID:29039164 PMID:29197662 PMID:30022420 PMID:30041674 PMID:30712249 PMID:31260114 PMID:31622506 PMID:33453710 PMID:33552909 PMID:34796408 More...
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NCBI chr12:42,159,109...42,172,496
Ensembl chr12:42,159,089...42,172,490
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Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type |
ClinVar |
PMID:15781192 PMID:16199547 PMID:16410054 PMID:20556797 PMID:23707710 PMID:24033266 PMID:25741868 PMID:27591164 PMID:28492532 PMID:30022420 PMID:34796408 More...
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NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
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Cd320 |
CD320 molecule |
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ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 7:14,626,171...14,631,976
Ensembl chr 7:14,609,146...14,631,976
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G |
Abcd4 |
ATP binding cassette subfamily D member 4 |
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ISO |
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:22922874 PMID:23141461 PMID:25234635 PMID:28492532 PMID:28572511 PMID:30651581 PMID:33729671 PMID:33845046 More...
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NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
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G |
Dcdc2c |
doublecortin domain containing 2C |
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ISO |
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:25741868 |
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NCBI chr 6:45,103,838...45,179,040
Ensembl chr 6:45,061,553...45,178,046
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Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase |
ClinVar |
PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28492532 More...
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Lmbrd1 |
LMBR1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 PMID:26997947 PMID:28492532 More...
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NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
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G |
Mmachc |
metabolism of cobalamin associated C |
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ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17576681 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 PMID:19573432 PMID:19700356 PMID:19760748 PMID:19767224 PMID:19836982 PMID:19914430 PMID:20219402 PMID:20549364 PMID:20610126 PMID:20631720 PMID:20652818 PMID:20924684 PMID:21055272 PMID:21114891 PMID:21228398 PMID:21835369 PMID:22447314 PMID:22560872 PMID:22642810 PMID:23241609 PMID:23580368 PMID:23591356 PMID:23757202 PMID:23825108 PMID:23837176 PMID:23932106 PMID:23954310 PMID:24033266 PMID:24126030 PMID:24210589 PMID:24577983 PMID:24599607 PMID:25388550 PMID:25398587 PMID:25511120 PMID:25668207 PMID:25672861 PMID:25687216 PMID:25689098 PMID:25741868 PMID:25772322 PMID:25809485 PMID:25894566 PMID:26149271 PMID:26253414 PMID:26270766 PMID:26283149 PMID:26287336 PMID:26464686 PMID:26467025 PMID:26563984 PMID:26658511 PMID:26825575 PMID:26979128 PMID:26990548 PMID:27252276 PMID:27383490 PMID:27751223 PMID:28151490 PMID:28218226 PMID:28327205 PMID:28337550 PMID:28454995 PMID:28481040 PMID:28492532 PMID:28693988 PMID:28835862 PMID:29294253 PMID:29340559 PMID:29379858 PMID:29396438 PMID:29453417 PMID:29581464 PMID:29731766 PMID:30157807 PMID:30197982 PMID:30209273 PMID:30293248 PMID:30863077 PMID:31092259 PMID:31130284 PMID:31278756 PMID:31279840 PMID:31470807 PMID:31503356 PMID:31555752 PMID:31574870 PMID:31998365 PMID:32071835 PMID:32164588 PMID:32439973 PMID:32481360 PMID:32943488 PMID:33411215 PMID:33473346 PMID:34215320 PMID:34356170 PMID:34389282 PMID:34445196 More...
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NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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G |
Mmadhc |
metabolism of cobalamin associated D |
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ISO |
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 |
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NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771
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G |
Prdx1 |
peroxiredoxin 1 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856
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G |
Thap11 |
THAP domain containing 11 |
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ISS |
OMIM:277400 |
MouseDO |
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NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
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G |
Mmadhc |
metabolism of cobalamin associated D |
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ISO |
ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 |
OMIM ClinVar |
PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 PMID:18385497 PMID:19058814 PMID:22156578 PMID:24033266 PMID:25155779 PMID:25741868 PMID:27252276 PMID:28492532 PMID:28939051 PMID:29620684 More...
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NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771
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G |
Col19a1 |
collagen type XIX alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF |
ClinVar |
PMID:19136951 PMID:21303734 PMID:28492532 |
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NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106
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G |
Col9a1 |
collagen type IX alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF |
ClinVar |
PMID:19136951 PMID:21303734 PMID:28492532 |
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NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
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G |
Lmbrd1 |
LMBR1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 PMID:22922874 PMID:23776111 PMID:24664876 PMID:25047945 PMID:25741868 PMID:26997947 PMID:28492532 More...
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NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG |
OMIM ClinVar |
PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 PMID:9683607 PMID:10323741 PMID:12068375 PMID:12154064 PMID:12375236 PMID:12923861 PMID:16199547 PMID:17576681 PMID:20890936 PMID:21615938 PMID:22887477 PMID:25227144 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25856670 PMID:26198278 PMID:28492532 PMID:28666289 PMID:32581362 More...
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NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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G |
Abcd4 |
ATP binding cassette subfamily D member 4 |
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ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 PMID:28492532 PMID:30293248 PMID:33845046 More...
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NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
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G |
Man2b1 |
mannosidase, alpha, class 2B, member 1 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
ClinVar |
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NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
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G |
Mmachc |
metabolism of cobalamin associated C |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type |
ClinVar |
PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19700356 PMID:19760748 PMID:20219402 PMID:20631720 PMID:21055272 PMID:22560872 PMID:23825108 PMID:24577983 PMID:25511120 PMID:25687216 PMID:25741868 PMID:25809485 PMID:26149271 PMID:26283149 PMID:26563984 PMID:28218226 PMID:28492532 PMID:28693988 More...
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NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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G |
Mmut |
methylmalonyl-CoA mutase |
treatment |
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DNA:mutations:multiple: |
OMIM ClinVar RGD |
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 PMID:2453061 PMID:2661559 PMID:2881300 PMID:7602808 PMID:7909321 PMID:7912889 PMID:7951229 PMID:8880917 PMID:8990001 PMID:9285782 PMID:9536098 PMID:9554742 PMID:9929975 PMID:10923046 PMID:11350191 PMID:11528502 PMID:12402345 PMID:15643616 PMID:15781192 PMID:15781199 PMID:16199547 PMID:16281286 PMID:16435223 PMID:16451139 PMID:16490061 PMID:17075691 PMID:17113806 PMID:17410422 PMID:17432548 PMID:17445044 PMID:17470278 PMID:17576681 PMID:17823972 PMID:17948227 PMID:17957493 PMID:17966092 PMID:19088183 PMID:19375370 PMID:19955418 PMID:20301409 PMID:20549364 PMID:20603089 PMID:21048060 PMID:21114891 PMID:21671183 PMID:22614770 PMID:22695176 PMID:22727635 PMID:23024777 PMID:23045948 PMID:23430940 PMID:23479330 PMID:23729607 PMID:24033266 PMID:24059531 PMID:24330302 PMID:24464670 PMID:24865477 PMID:25087612 PMID:25125334 PMID:25299208 PMID:25525159 PMID:25689098 PMID:25736335 PMID:25741868 PMID:25750861 PMID:25771389 PMID:25959030 PMID:26174677 PMID:26270765 PMID:26318470 PMID:26420839 PMID:26449400 PMID:26454439 PMID:26483233 PMID:26615597 PMID:26790480 PMID:27060300 PMID:27167370 PMID:27233228 PMID:27489777 PMID:27578510 PMID:27591164 PMID:27602322 PMID:27751223 PMID:27884173 PMID:28101778 PMID:28468868 PMID:28492532 PMID:28811685 PMID:29158924 PMID:29896740 PMID:30022420 PMID:30041674 PMID:30209273 PMID:30577886 PMID:30712249 PMID:30728829 PMID:31466887 PMID:31525265 PMID:31622506 PMID:31757659 PMID:31813137 PMID:32451238 PMID:32754920 PMID:19861951 PMID:17937813 PMID:27167370 More...
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RGD:13208535, RGD:13208534, RGD:11526224 |
NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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G |
Bivm |
basic, immunoglobulin-like variable motif containing |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
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G |
Ccdc168 |
coiled-coil domain containing 168 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936
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G |
Clybl |
citramalyl-CoA lyase |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
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G |
Ercc5 |
ERCC excision repair 5, endonuclease |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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G |
Fgf14 |
fibroblast growth factor 14 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
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G |
Ggact |
gamma-glutamylamine cyclotransferase |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:15464417 PMID:19157943 PMID:22033733 PMID:28492532 |
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NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
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G |
Itgbl1 |
integrin subunit beta like 1 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
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G |
Mettl21c |
methyltransferase 21C, AARS1 lysine |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
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G |
Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
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G |
Pcca |
propionyl-CoA carboxylase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
OMIM ClinVar |
PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 PMID:9536098 PMID:9887338 PMID:10101253 PMID:10329019 PMID:10518292 PMID:10780784 PMID:11592820 PMID:12385775 PMID:12559849 PMID:14960587 PMID:15059621 PMID:15164333 PMID:15235904 PMID:15464417 PMID:16023992 PMID:16199547 PMID:17051315 PMID:17576681 PMID:18414145 PMID:19099776 PMID:19157943 PMID:20493181 PMID:20549364 PMID:20725044 PMID:21094621 PMID:22033733 PMID:22156789 PMID:22334403 PMID:22593918 PMID:23053474 PMID:23348723 PMID:23430860 PMID:23757202 PMID:24033266 PMID:24059531 PMID:24464666 PMID:24863100 PMID:25047749 PMID:25636094 PMID:25640679 PMID:25741868 PMID:26740382 PMID:27227689 PMID:27489777 PMID:27825584 PMID:27900673 PMID:28492532 PMID:28712602 PMID:28853722 PMID:29033250 PMID:29978829 PMID:30159853 PMID:30186825 PMID:30209273 PMID:30274917 PMID:30705822 PMID:31319225 PMID:31462756 PMID:31757659 PMID:31828787 PMID:31893529 PMID:31916709 PMID:32252659 PMID:32819290 PMID:33028371 PMID:33473339 PMID:33923806 More...
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NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
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G |
Pccb |
propionyl-CoA carboxylase subunit beta |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
OMIM ClinVar |
PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 PMID:8852656 PMID:9452096 PMID:9536098 PMID:9683601 PMID:10447268 PMID:10502773 PMID:10780784 PMID:10820128 PMID:10910839 PMID:11136555 PMID:11749052 PMID:12007220 PMID:12189489 PMID:12409268 PMID:12559849 PMID:12757933 PMID:12888983 PMID:15059621 PMID:15235904 PMID:15464417 PMID:15890657 PMID:15949719 PMID:16199547 PMID:17051315 PMID:17415538 PMID:17576681 PMID:17966092 PMID:18599334 PMID:19099776 PMID:19238581 PMID:19342984 PMID:20549364 PMID:20725044 PMID:21125326 PMID:22033733 PMID:22156789 PMID:22334403 PMID:22593918 PMID:22863191 PMID:23053474 PMID:23430860 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24863100 PMID:24916042 PMID:25047749 PMID:25087612 PMID:25636094 PMID:25741868 PMID:25851414 PMID:25865301 PMID:26467025 PMID:26589311 PMID:26830710 PMID:27227689 PMID:27243974 PMID:27578510 PMID:27776753 PMID:27825584 PMID:27896094 PMID:27900673 PMID:28492532 PMID:28649556 PMID:28853722 PMID:29033250 PMID:29247206 PMID:29679984 PMID:30013935 PMID:30274917 PMID:30705822 PMID:31757659 PMID:31808324 PMID:31916709 PMID:32252659 PMID:32778825 PMID:32860008 PMID:33028371 PMID:33473339 PMID:33587123 PMID:33725819 PMID:33923806 PMID:33981581 PMID:34006296 More...
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NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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G |
Poglut2 |
protein O-glucosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
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G |
Slc10a2 |
solute carrier family 10 member 2 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
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G |
Tex30 |
testis expressed 30 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:46,242,748...46,252,273
Ensembl chr 9:46,242,748...46,252,249
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G |
Tm9sf2 |
transmembrane 9 superfamily member 2 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
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G |
Tmtc4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
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G |
Tpp2 |
tripeptidyl peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
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G |
Ubac2 |
UBA domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
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G |
Uqcrfs1 |
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:31883641 |
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NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
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G |
Zic2 |
Zic family member 2 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
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G |
Zic5 |
Zic family member 5 |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia |
ClinVar |
PMID:28492532 |
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NCBI chr15:99,558,229...99,567,035
Ensembl chr15:99,560,323...99,567,035
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