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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 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
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G |
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:16354225 PMID:16640564 PMID:17130438 PMID:17576681 PMID:20855850 PMID:20882351 PMID:21840233 PMID:24598254 PMID:25741868 PMID:28492532 |
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NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
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G |
Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE ClinVar Annotator: match by OMIM:258501 |
OMIM ClinVar |
PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:18985435 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 |
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NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
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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 type V ClinVar Annotator: match by OMIM:610198 |
OMIM ClinVar |
PMID:16055927 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27928778 PMID:28492532 PMID:29625556 |
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NCBI chr 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
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G |
Htra2 |
HtrA serine peptidase 2 |
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ISO |
ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIII |
ClinVar OMIM |
PMID:25741868 PMID:27208207 PMID:27696117 |
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NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
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G |
Loxl3 |
lysyl oxidase-like 3 |
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ISO |
ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII |
ClinVar |
PMID:27208207 |
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NCBI chr 4:113,866,782...113,883,713
Ensembl chr 4:113,866,804...113,883,477
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G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
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ISO |
ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 |
ClinVar OMIM |
PMID:25741868 PMID:30190335 PMID:32369862 |
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NCBI chr 1:85,470,810...85,480,813
Ensembl chr 1:85,470,831...85,480,407
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G |
Clpb |
caseinolytic mitochondrial matrix peptidase chaperone subunit B |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32313153 |
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NCBI chr 1:166,739,372...166,866,095
Ensembl chr 1:166,739,532...166,866,107
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G |
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 ClinVar Annotator: match by OMIM:614739 |
OMIM ClinVar |
PMID:16527507 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:32313153 |
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NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Barth syndrome ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:11238270 PMID:15793838 PMID:19396829 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 |
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NCBI chr X:156,429,521...156,438,066
Ensembl chr X:156,429,585...156,438,066
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G |
Fkbp1a |
FKBP prolyl isomerase 1A |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
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G |
Mest |
mesoderm specific transcript |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 4:58,052,786...58,063,227
Ensembl chr 4:58,053,041...58,063,138
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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: Barth syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:302060 |
OMIM ClinVar CTD |
PMID:1719174 PMID:1998334 PMID:4685904 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9536098 PMID:11238270 PMID:11735032 PMID:12032589 PMID:12468278 PMID:12930833 PMID:15098233 PMID:15793838 PMID:16427346 PMID:16548007 PMID:16873891 PMID:16880272 PMID:17394203 PMID:17576681 PMID:18430085 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:20530761 PMID:20812380 PMID:21300850 PMID:22382802 PMID:23361305 PMID:23409742 PMID:23656970 PMID:24033266 PMID:24342716 PMID:24887148 PMID:25185984 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26724946 PMID:26845103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:29077208 PMID:29089047 PMID:29247119 PMID:31333075 PMID:31568572 |
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NCBI chr X:156,421,006...156,429,461
Ensembl chr X:156,421,009...156,428,593
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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 aciduria ClinVar Annotator: match by OMIM:614265 |
OMIM ClinVar |
PMID:21785126 PMID:21841779 PMID:24033266 PMID:25741868 PMID:26827111 PMID:26915364 PMID:28492532 PMID:29555771 PMID:29858964 PMID:30041674 PMID:30740739 PMID:31376476 PMID:33223529 |
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NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
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G |
Dld |
dihydrolipoamide dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease, type 3 ClinVar Annotator: match by term: LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO ClinVar Annotator: match by OMIM:246900 |
OMIM ClinVar |
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9540846 PMID:9934985 PMID:10448086 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17404228 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:27144126 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532 |
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NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
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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 chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
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G |
Gcdh |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar Annotator: match by term: Glutaric acidemia type I ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:231670 |
OMIM ClinVar CTD |
PMID:1951469 PMID:7795610 PMID:8541831 PMID:8900227 PMID:8900228 PMID:9266361 PMID:9600243 PMID:9711871 PMID:9856558 PMID:9881681 PMID:10066389 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:15318278 PMID:15505393 PMID:15505400 PMID:15573311 PMID:15954035 PMID:16183314 PMID:16377226 PMID:16466958 PMID:16488172 PMID:16602100 PMID:16641220 PMID:17188916 PMID:17478444 PMID:17622945 PMID:17642054 PMID:17661081 PMID:18285246 PMID:18411069 PMID:18459892 PMID:18683078 PMID:18775954 PMID:18926513 PMID:19167251 PMID:19433275 PMID:19433437 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:25741868 PMID:25762492 PMID:25863083 PMID:26071121 PMID:26316201 PMID:26589311 PMID:26593172 PMID:26633542 PMID:26656312 PMID:27243974 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:29086383 PMID:29201125 PMID:29292490 PMID:29419857 PMID:29665094 PMID:30217722 PMID:30298489 PMID:30512148 PMID:30570710 PMID:31319225 PMID:31536184, PMID:28545977 |
RGD:13515124 |
NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
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G |
Syce2 |
synaptonemal complex central element protein 2 |
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ISO |
ClinVar Annotator: match by synonym: Glutaryl-CoA dehydrogenase deficiency ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency |
ClinVar |
PMID:1951469 PMID:8900227 PMID:8900228 PMID:9600243 PMID:9711871 PMID:10699052 PMID:10960496 PMID:11058907 PMID:11073722 PMID:12210585 PMID:12948740 PMID:15318278 PMID:15505393 PMID:17478444 PMID:18683078 PMID:18926513 PMID:19630565 PMID:21031586 PMID:21176883 PMID:22728054 PMID:24973495 PMID:25256449 PMID:25741868 PMID:27672653 PMID:28302372 PMID:28438223 PMID:28492532 PMID:31536184 |
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NCBI chr19:25,982,003...26,002,399
Ensembl chr19:25,983,169...26,001,317
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G |
Ivd |
isovaleryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency ClinVar Annotator: match by term: Isovaleric acidemia, type II ClinVar Annotator: match by OMIM:243500 ClinVar Annotator: match by term: ISOVALERIC ACIDEMIA, TYPE I |
OMIM ClinVar |
PMID:1310317 PMID:2063866 PMID:2318964 PMID:9536098 PMID:9665741 PMID:10677295 PMID:10713113 PMID:15337167 PMID:15486829 PMID:16602101 PMID:16825284 PMID:17027310 PMID:17576084 PMID:17576681 PMID:19099814 PMID:20519759 PMID:22004070 PMID:22350545 PMID:22960500 PMID:23587913 PMID:24059531 PMID:24516753 PMID:24637313 PMID:25220015 PMID:25533962 PMID:25741868 PMID:26018748 PMID:26589311 PMID:26937393 PMID:27629047 PMID:27904153 PMID:28492532 PMID:28535199 |
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NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
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G |
Bcat2 |
branched chain amino acid transaminase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14755340, PMID:14755340 |
RGD:1300291 |
NCBI chr 1:101,553,900...101,572,103
Ensembl chr 1:101,554,642...101,572,080
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G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease ClinVar Annotator: match by OMIM:248600 |
ClinVar OMIM |
PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2241958 PMID:2703538 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9582350 PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:16468966 PMID:16786533 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:19715473 PMID:20136525 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22593002 PMID:22727569 PMID:23765052 PMID:24033266 PMID:24374108 PMID:24772966 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26786177 PMID:26830710 PMID:26901124 PMID:26937410 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:29306928 PMID:29740775, PMID:8037208, PMID:1943689 |
RGD:737779, RGD:734637 |
NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
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G |
Bckdhb |
branched chain keto acid dehydrogenase E1 subunit beta |
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ISO |
DNA:deletion mutation:exon 1; ClinVar Annotator: match by term: Maple syrup urine disease ClinVar Annotator: match by OMIM:248600 |
ClinVar OMIM |
PMID:8161368 PMID:8312380 PMID:8430702 PMID:9375800 PMID:11112664 PMID:11448970 PMID:11509994 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16468966 PMID:16786533 PMID:17922217 PMID:18378174 PMID:19282776 PMID:19480318 PMID:20307994 PMID:21484869 PMID:22326532 PMID:22350544 PMID:22593002 PMID:22727569 PMID:24374108 PMID:24770567 PMID:24772966 PMID:24995870 PMID:25255367 PMID:25333063 PMID:25381949 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:27507644 PMID:27682710 PMID:28197878 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:30228974 PMID:30298499 PMID:31112740, PMID:2022752 |
RGD:1599466 |
NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
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G |
Dbt |
dihydrolipoamide branched chain transacylase E2 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease ClinVar Annotator: match by OMIM:248600 |
OMIM ClinVar |
PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9621512 PMID:11112664 PMID:14517957 PMID:16468966 PMID:16786533 PMID:18378174 PMID:19480318 PMID:20307994 PMID:20570198 PMID:20639189 PMID:21098507 PMID:22090376 PMID:23313820 PMID:24033266 PMID:24394677 PMID:24772966 PMID:25255367 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26589311 PMID:27243974 PMID:27518768 PMID:28417071 PMID:28492532 PMID:30228974 |
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NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
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G |
Dld |
dihydrolipoamide dehydrogenase |
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ISO ISS |
ClinVar Annotator: match by term: Maple syrup urine disease OMIM:246900 | OMIM:248600 | OMIM:615135 |
ClinVar MouseDO |
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NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
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G |
Lamb1 |
laminin subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease |
ClinVar |
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NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
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G |
Ppm1k |
protein phosphatase, Mg2+/Mn2+ dependent, 1K |
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ISO |
ClinVar Annotator: match by term: Maple syrup urine disease, mild variant |
ClinVar OMIM |
PMID:23086801 PMID:28492532 |
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NCBI chr 4:88,694,395...88,721,374
Ensembl chr 4:88,694,583...88,718,533
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G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
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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:9582350 PMID:10694918 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:14742428 PMID:16468966 PMID:16786533 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:20136525 PMID:20431954 PMID:21098507 PMID:21228398 PMID:22593002 PMID:22727569 PMID:23765052 PMID:24374108 PMID:25333063 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26830710 PMID:26901124 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:29306928 |
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NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
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G |
Bckdhb |
branched chain keto acid dehydrogenase E1 subunit beta |
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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:8430702 PMID:9375800 PMID:11112664 PMID:11448970 PMID:11509994 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16786533 PMID:17922217 PMID:18378174 PMID:19282776 PMID:19480318 PMID:20307994 PMID:21484869 PMID:22593002 PMID:22727569 PMID:24374108 PMID:24772966 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:28417071 PMID:28492532 PMID:28830848 PMID:30228974 PMID:31112740 |
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NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
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G |
Dbt |
dihydrolipoamide branched chain transacylase E2 |
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ISO |
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 Annotator: match by term: Intermediate maple syrup urine disease type 2 |
ClinVar |
PMID:1847055 PMID:1943690 PMID:1990841 PMID:2010537 PMID:8430702 PMID:9239422 PMID:9621512 PMID:14508502 PMID:14517957 PMID:14742428 PMID:16468966 PMID:16786533 PMID:18378174 PMID:20639189 PMID:24772966 PMID:25741868 PMID:26257134 PMID:28417071 PMID:28492532 PMID:31319225 |
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NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
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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:21785126 PMID:21841779 PMID:25741868 PMID:26915364 PMID:28492532 PMID:29858964 PMID:30041674 PMID:30740739 PMID:31376476 |
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NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
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G |
Cavin1 |
caveolae associated protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823967 |
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NCBI chr10:88,862,513...88,874,495
Ensembl chr10:88,860,733...88,874,528
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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 2:187,322,416...187,326,794
Ensembl chr 2:184,882,969...184,883,505
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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 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
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G |
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 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074
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G |
Mcee |
methylmalonyl CoA epimerase |
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ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
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NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
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G |
Mmaa |
metabolism of cobalamin associated A |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia |
ClinVar |
PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 PMID:17957493 PMID:20549364 PMID:21048060 PMID:21114891 PMID:21545677 PMID:22614770 PMID:23026888 PMID:23711287 PMID:24033266 PMID:24059531 PMID:24095221 PMID:25525159 PMID:25636100 PMID:25741868 PMID:25748407 PMID:26270765 PMID:26370686 PMID:27591164 PMID:28492532 PMID:28497574 |
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NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
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G |
Mmab |
metabolism of cobalamin associated B |
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ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia |
ClinVar |
PMID:12471062 PMID:15523652 PMID:15781192 PMID:16311595 PMID:16410054 PMID:16439175 PMID:17410422 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:30022420 |
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NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
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G |
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 |
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NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
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G |
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:2661559 PMID:7912889 PMID:8880917 PMID:9285782 PMID:9929975 PMID:10923046 PMID:11350191 PMID:11528502 PMID:12402345 PMID:15643616 PMID:15781192 PMID:15781199 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: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:25125334 PMID:25299208 PMID:25525159 PMID:25689098 PMID:25741868 PMID:25750861 PMID:25771389 PMID:26270765 PMID:26420839 PMID:26454439 PMID:26615597 PMID:26790480 PMID:27167370 PMID:27233228 PMID:27489777 PMID:27578510 PMID:27591164 PMID:27751223 PMID:28492532 |
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NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
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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 chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
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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 chr14:16,369,544...16,405,645
Ensembl chr14:16,369,544...16,452,998
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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 9:100,624,876...100,658,053
Ensembl chr 9:100,624,876...100,658,050
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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 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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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 4:127,552,100...127,824,970
Ensembl chr 4:127,552,101...127,824,970
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G |
Cenpt |
centromere protein T |
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ISO |
ClinVar Annotator: match by term: Mental retardation 3, X-linked |
ClinVar |
PMID:25741868 |
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NCBI chr19:37,813,284...37,819,782
Ensembl chr19:37,812,751...37,819,789
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar Annotator: match by OMIM:309541 |
OMIM ClinVar |
PMID:1870093 PMID:9536098 PMID:17576681 PMID:23000143 PMID:24011988 PMID:25167861 PMID:25281006 PMID:25326637 PMID:25740848 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28166811 PMID:28492532 |
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NCBI chr X:156,812,012...156,837,227
Ensembl chr X:156,812,064...156,837,227
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G |
Thap11 |
THAP domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Mental retardation 3, X-linked |
ClinVar |
PMID:25741868 |
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NCBI chr19:37,825,576...37,827,393
Ensembl chr19:37,825,576...37,827,393
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G |
Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY |
ClinVar |
PMID:25326637 PMID:25741868 PMID:26686600 PMID:28492532 |
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NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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G |
Mmaa |
metabolism of cobalamin associated A |
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ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia cblA type ClinVar Annotator: match by term: Methylmalonic aciduria cblA type |
OMIM ClinVar |
PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 PMID:17957493 PMID:20549364 PMID:21048060 PMID:21114891 PMID:21545677 PMID:22614770 PMID:23026888 PMID:23711287 PMID:23716945 PMID:24033266 PMID:24059531 PMID:24095221 PMID:25525159 PMID:25636100 PMID:25741868 PMID:25748407 PMID:26270765 PMID:26370686 PMID:27591164 PMID:27858373 PMID:28492532 PMID:28497574 |
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NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
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G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia cblA type 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 |
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NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
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G |
Mmab |
metabolism of cobalamin associated B |
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ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia cblB type ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE ClinVar Annotator: match by term: Methylmalonic aciduria cblB type |
OMIM ClinVar |
PMID:12471062 PMID:15044458 PMID:15523652 PMID:15781192 PMID:16311595 PMID:16410054 PMID:16439175 PMID:17176040 PMID:17410422 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:28492532 PMID:29039164 PMID:29197662 PMID:30022420 |
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NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
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G |
Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria cblB type ClinVar Annotator: match by term: Methylmalonic acidemia cblB type |
ClinVar |
PMID:16410054 PMID:23707710 PMID:24033266 PMID:25741868 PMID:27591164 PMID:28492532 |
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NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
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G |
Cd320 |
CD320 molecule |
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ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria due to transcobalamin receptor defect |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:18,700,445...18,706,244
Ensembl chr 7:18,700,344...18,706,244
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G |
Dcdc2c |
doublecortin domain containing 2C |
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ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria |
ClinVar |
PMID:25741868 |
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NCBI chr 6:47,737,814...47,812,219
Ensembl chr 6:47,774,060...47,848,075
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G |
Gla |
galactosidase, alpha |
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ISO |
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar |
PMID:11889412 PMID:20360539 PMID:22905681 PMID:23219219 PMID:23806086 PMID:23935525 PMID:24015197 PMID:24033266 PMID:24088041 PMID:24582695 PMID:25382311 PMID:25687216 PMID:25741868 PMID:26866599 PMID:26990548 PMID:27657681 PMID:28340804 PMID:28492532 PMID:28646478 PMID:29132836 |
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NCBI chr X:105,405,915...105,417,331
Ensembl chr X:105,406,792...105,417,323
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria |
ClinVar |
PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 PMID:27403441 |
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NCBI chr X:156,812,012...156,837,227
Ensembl chr X:156,812,064...156,837,227
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G |
Mmachc |
metabolism of cobalamin associated C |
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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 ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC ClinVar Annotator: match by OMIM:277400 |
OMIM ClinVar CTD |
PMID:11261516 PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 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:23580368 PMID:23757202 PMID:23825108 PMID:23837176 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:26270766 PMID:26283149 PMID:26287336 PMID:26412180 PMID:26563984 PMID:26658511 PMID:26825575 PMID:26979128 PMID:26990548 PMID:27252276 PMID:27383490 PMID:27751223 PMID:28151490 PMID:28218226 PMID:28327205 PMID:28454995 PMID:28492532 PMID:28693988 PMID:29042959 PMID:29294253 PMID:29379858 PMID:29396438 PMID:30157807 PMID:32164588 |
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NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
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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 |
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NCBI chr 3:35,783,511...35,801,474
Ensembl chr 3:35,783,623...35,801,614
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G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC |
ClinVar OMIM |
PMID:25741868 PMID:29396438 |
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NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
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G |
Mmadhc |
metabolism of cobalamin associated D |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA, cblH TYPE ClinVar Annotator: match by OMIM:277410 ClinVar Annotator: match by synonym: Methylmalonic aciduria, cblD type, variant 2 |
OMIM ClinVar |
PMID:5524089 PMID:9536098 PMID:15292234 PMID:17576681 PMID:18385497 PMID:19058814 PMID:22156578 PMID:24033266 PMID:25741868 PMID:27252276 PMID:28492532 PMID:28939051 PMID:29620684 |
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NCBI chr 3:35,783,511...35,801,474
Ensembl chr 3:35,783,623...35,801,614
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G |
Lmbrd1 |
LMBR1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE |
OMIM ClinVar CTD |
PMID:19136951 PMID:21303734 PMID:22922874 PMID:23776111 PMID:24664876 PMID:25047945 PMID:25741868 PMID:26997947 PMID:28492532 |
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NCBI chr 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar Annotator: match by term: METHYLCOBALAMIN DEFICIENCY, cblG TYPE ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:250940 |
OMIM ClinVar |
PMID:8968736 PMID:8968737 PMID:9235907 PMID:9536098 PMID:9683607 PMID:12068375 PMID:17576681 PMID:20890936 PMID:21615938 PMID:22887477 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25856670 PMID:26198278 PMID:28210839 PMID:28492532 PMID:28666289 PMID:32581362 |
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NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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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 ClinVar Annotator: match by OMIM:614857 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22922874 PMID:25741868 PMID:28492532 |
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NCBI chr 6:108,315,026...108,329,550
Ensembl chr 6:108,315,035...108,329,464
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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 chr19:26,196,797...26,216,981
Ensembl chr19:26,196,837...26,216,267
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G |
Mfn2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY |
ClinVar |
PMID:25326637 PMID:25741868 PMID:26686600 PMID:28492532 |
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NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria 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 |
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NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
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G |
Mmut |
methylmalonyl-CoA mutase |
treatment |
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE DNA:mutations:multiple: ClinVar Annotator: match by OMIM:251000 |
OMIM ClinVar |
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 PMID:2453061 PMID:2661559 PMID:2881300 PMID:7602808 PMID:7627195 PMID:7909321 PMID:7912889 PMID:7951229 PMID:8880917 PMID:9285782 PMID:9554742 PMID:9929975 PMID:10923046 PMID:11350191 PMID:11528502 PMID:12402345 PMID:15643616 PMID:15781192 PMID:15781199 PMID:16281286 PMID:16435223 PMID:16451139 PMID:16490061 PMID:17075691 PMID:17113806 PMID:17410422 PMID:17432548 PMID:17445044 PMID:17470278 PMID:17823972 PMID:17948227 PMID:17957493 PMID:17966092 PMID:19088183 PMID:19375370 PMID:19862841 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:25073507 PMID:25125334 PMID:25299208 PMID:25525159 PMID:25689098 PMID:25736335 PMID:25741868 PMID:25750861 PMID:25771389 PMID:25959030 PMID:26174677 PMID:26270765 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:28492532 PMID:28811685 PMID:30022420, PMID:19861951, PMID:17937813, PMID:27167370 |
RGD:13208535, RGD:13208534, RGD:11526224 |
NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
|
ISO |
ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION, ISOLATED, X-LINKED |
ClinVar |
PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 PMID:25741868 PMID:25941633 PMID:28492532 |
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NCBI chr X:156,421,006...156,429,461
Ensembl chr X:156,421,009...156,428,593
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G |
Ggact |
gamma-glutamylamine cyclotransferase |
|
ISO |
ClinVar Annotator: match by term: Propionic acidemia ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency |
ClinVar |
PMID:19157943 PMID:22033733 PMID:28492532 |
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NCBI chr15:109,307,683...109,336,779
Ensembl chr15:109,307,904...109,316,953
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G |
Pcca |
propionyl-CoA carboxylase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency ClinVar Annotator: match by term: Propionicacidemia ClinVar Annotator: match by OMIM:606054 |
OMIM ClinVar |
PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 PMID:9887338 PMID:10101253 PMID:10329019 PMID:10518292 PMID:10780784 PMID:11592820 PMID:12385775 PMID:12559849 PMID:15059621 PMID:15235904 PMID:15464417 PMID:16023992 PMID:17051315 PMID:18414145 PMID:19099776 PMID:19157943 PMID:20493181 PMID:20549364 PMID:20725044 PMID:21094621 PMID:22033733 PMID:22156789 PMID:22334403 PMID:23053474 PMID:23348723 PMID:23430860 PMID:23757202 PMID:24033266 PMID:24059531 PMID:24464666 PMID:24863100 PMID:25047749 PMID:25741868 PMID:26740382 PMID:27227689 PMID:27489777 PMID:27825584 PMID:27900673 PMID:28492532 PMID:28712602 PMID:29033250 PMID:29978829 PMID:30159853 PMID:30274917 PMID:30705822 PMID:31319225 |
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NCBI chr15:108,960,509...109,306,879
Ensembl chr15:108,960,562...109,306,603
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G |
Pccb |
propionyl-CoA carboxylase subunit beta |
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ISO |
ClinVar Annotator: match by term: Propionic acidemia ClinVar Annotator: match by term: Propionyl-CoA carboxylase deficiency ClinVar Annotator: match by OMIM:606054 |
OMIM ClinVar |
PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 PMID:9452096 PMID:9536098 PMID:9683601 PMID:10447268 PMID:10502773 PMID:10780784 PMID:10820128 PMID:11136555 PMID:11749052 PMID:12007220 PMID:12189489 PMID:12409268 PMID:12559849 PMID:12757933 PMID:12888983 PMID:15059621 PMID:15464417 PMID:15890657 PMID:15949719 PMID:17051315 PMID:17415538 PMID:17576681 PMID:17966092 PMID:19099776 PMID:19238581 PMID:20549364 PMID:20725044 PMID:22033733 PMID:22334403 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:26830710 PMID:27227689 PMID:27243974 PMID:27578510 PMID:27776753 PMID:27900673 PMID:28492532 PMID:28649556 PMID:28853722 PMID:29033250 PMID:29679984 PMID:30013935 PMID:30274917 PMID:32778825 PMID:32860008 |
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NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
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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: Propionicacidemia |
ClinVar |
PMID:31883641 |
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NCBI chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259
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