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G |
Acsf3 |
acyl-CoA synthetase family member 3 |
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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 PMID:31980526 PMID:32944792 PMID:33879512 PMID:34426522 PMID:34440436 PMID:34900860 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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Cavin1 |
caveolae associated protein 1 |
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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 |
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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 Ensembl chr18:79,651,378...79,654,054
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Gpd2 |
glycerol-3-phosphate dehydrogenase 2 |
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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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Mcee |
methylmalonyl CoA epimerase |
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ISO |
ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
PMID:16697227 PMID:16752391 PMID:17823972 PMID:25741868 PMID:25763508 PMID:25954003 PMID:27618451 PMID:27699154 PMID:28490743 PMID:28492532 PMID:29104221 PMID:30682498 PMID:31146325 More...
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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 |
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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:33726816 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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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...42,172,518
Ensembl chr12:42,159,089...42,172,490
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Mmachc |
metabolism of cobalamin associated C |
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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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Mmut |
methylmalonyl-CoA mutase |
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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:17432548 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:32754920 PMID:33413471 PMID:34668645 PMID:35225935 PMID:36007526 PMID:36717752 PMID:36964972 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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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...42,158,893
Ensembl chr12:42,141,384...42,158,882
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G |
Septin11 |
septin 11 |
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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 |
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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 |
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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 |
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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 |
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ISO ISS |
OMIM:309541 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
OMIM MouseDO CTD 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 |
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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:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
Mecp2 |
methyl CpG binding protein 2 |
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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:151,781,177...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 |
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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:151,656,056...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:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Renbp |
renin binding protein |
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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:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Tex28 |
testis expressed 28 |
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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:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
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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G |
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 |
C19h4orf51 |
similar to human chromosome 4 open reading frame 51 |
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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 chr19:28,669,044...28,704,512
Ensembl chr19:28,669,059...28,704,508
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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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G |
Lsm6 |
LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
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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G |
Mmaa |
metabolism of cobalamin associated A |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:33453710 PMID:33726816 PMID:34915869 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 |
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 chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
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G |
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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G |
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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G |
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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G |
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 |
|
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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G |
Mmab |
metabolism of cobalamin associated B |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:26694549 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 PMID:35712814 More...
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NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
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G |
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...42,158,893
Ensembl chr12:42,141,384...42,158,882
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G |
Cd320 |
CD320 molecule |
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ISO ISS |
OMIM:613646 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect |
OMIM MouseDO CTD 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:25741868 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 |
|
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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G |
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 |
|
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 |
|
ISO ISS |
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 OMIM:277400 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO 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:23754956 PMID:23757202 PMID:23825108 PMID:23837176 PMID:23932106 PMID:23954310 PMID:24033266 PMID:24126030 PMID:24210589 PMID:24577983 PMID:24599607 PMID:24853097 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:29068997 PMID:29294253 PMID:29302025 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:31137025 PMID:31278756 PMID:31279840 PMID:31470807 PMID:31503356 PMID:31555752 PMID:31574870 PMID:31998365 PMID:32071835 PMID:32099815 PMID:32164588 PMID:32439973 PMID:32457044 PMID:32481360 PMID:32943488 PMID:33411215 PMID:33473346 PMID:33515116 PMID:33562640 PMID:33691766 PMID:33726816 PMID:33931066 PMID:33982424 PMID:34102818 PMID:34215320 PMID:34356170 PMID:34389282 PMID:34445196 PMID:35190856 PMID:35193651 PMID:35361390 PMID:36338977 PMID:38387306 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:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 PMID:32252256 PMID:33552904 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 |
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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 PMID:32099815 PMID:34215320 PMID:35190856 More...
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NCBI chr 5:130,147,258...130,162,856
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 |
CTD Direct Evidence: marker/mechanism 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 CTD 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 PMID:32252256 PMID:33552904 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 |
Tsen54 |
tRNA splicing endonuclease subunit 54 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type |
ClinVar |
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
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NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
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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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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 | ClinVar Annotator: match by term: VITAMIN B12 STORAGE DISEASE 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 PMID:32552793 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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Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG |
CTD 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:32533987 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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Abcd4 |
ATP binding cassette subfamily D member 4 |
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ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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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Chek2 |
checkpoint kinase 2 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, mut type |
ClinVar |
PMID:25085752 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27720647 PMID:28492532 PMID:30851065 PMID:32658311 PMID:32885271 PMID:33471991 PMID:35264596 PMID:35534704 PMID:35643632 PMID:37449874 More...
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NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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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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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 PMID:33515116 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 |
treatment |
ISO ISS |
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 OMIM:251000 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: |
OMIM ClinVar MouseDO CTD 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:26454439 PMID:26483233 PMID:26615597 PMID:26790480 PMID:27060300 PMID:27167370 PMID:27233228 PMID:27489777 PMID:27578510 PMID:27591164 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:33413471 PMID:34668645 PMID:35225935 PMID:35281663 PMID:36007526 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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Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria, mut type |
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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