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G |
Abcd4 |
ATP binding cassette subfamily D member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22922874 |
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NCBI chrNW_004936488:3,526,875...3,538,851
Ensembl chrNW_004936488:3,523,344...3,538,858
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G |
Amn |
amnion associated transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Vitamin B12 deficiency |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234
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G |
Calr |
calreticulin |
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ISO |
protein:increased expression:kidney (rat) |
RGD |
PMID:25982389 |
RGD:11352764 |
NCBI chrNW_004936659:1,994,695...1,999,070
Ensembl chrNW_004936659:1,994,648...1,999,430
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G |
Cbs |
cystathionine beta-synthase |
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ISO |
protein:decreased expression:liver (rat) |
RGD |
PMID:2732804 |
RGD:40903037 |
NCBI chrNW_004936500:976,043...1,003,559
Ensembl chrNW_004936500:987,128...1,003,388
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:16716410 |
RGD:2313422 |
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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G |
Cfl1 |
cofilin 1 |
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ISO |
protein:increased expression:kidney (rat) |
RGD |
PMID:25982389 |
RGD:11352764 |
NCBI chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307
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G |
Gpx3 |
glutathione peroxidase 3 |
treatment |
ISO |
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RGD |
PMID:11115425 |
RGD:401827848 |
NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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ISO |
protein:decreased expression,decreased activity:liver: |
RGD |
PMID:14646334 |
RGD:8694080 |
NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148
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G |
Pon1 |
paraoxonase 1 |
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ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:22568797 |
RGD:11553830 |
NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591
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G |
Cblif |
cobalamin binding intrinsic factor |
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ISO |
ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency |
OMIM ClinVar |
PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 PMID:17576681 PMID:19036097 PMID:20408840 PMID:22854512 PMID:22929189 PMID:24033266 PMID:25308559 PMID:25640679 PMID:25741868 PMID:27577878 PMID:28492532 More...
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NCBI chrNW_004936581:2,919,793...2,933,743
Ensembl chrNW_004936581:2,920,355...2,933,403
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G |
Amn |
amnion associated transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:30523278 PMID:30691194 PMID:32045704 PMID:33491342 More...
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NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234
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G |
Cacnb2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936520:8,951,994...9,164,039
Ensembl chrNW_004936520:8,955,164...9,295,331
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G |
Cdc42bpb |
CDC42 binding protein kinase beta |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:32045704 More...
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NCBI chrNW_004936835:975,941...1,026,046
Ensembl chrNW_004936835:975,960...1,026,025
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G |
Cubn |
cubilin |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:17668238 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26040326 PMID:26467025 PMID:27197912 PMID:28204945 PMID:28492532 PMID:29402915 PMID:29801666 PMID:30220432 PMID:30547231 PMID:31497480 PMID:31613795 PMID:33226606 PMID:33532864 PMID:34610128 PMID:34979989 PMID:36112210 PMID:36891821 More...
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NCBI chrNW_004936520:10,140,784...10,410,082
Ensembl chrNW_004936520:10,140,784...10,409,851
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G |
Hacd1 |
3-hydroxyacyl-CoA dehydratase 1 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936520:9,716,178...9,725,949
Ensembl chrNW_004936520:9,716,224...9,727,841
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G |
Slc39a12 |
solute carrier family 39 member 12 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936520:9,380,723...9,444,146
Ensembl chrNW_004936520:9,380,650...9,444,152
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G |
St8sia6 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936520:9,869,166...9,990,205
Ensembl chrNW_004936520:9,869,195...9,988,541
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G |
Stam |
signal transducing adaptor molecule |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936520:9,627,674...9,689,658
Ensembl chrNW_004936520:9,624,628...9,689,686
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G |
Traf3 |
TNF receptor associated factor 3 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936835:844,747...955,900
Ensembl chrNW_004936835:844,727...950,664
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G |
Trdmt1 |
tRNA aspartic acid methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936520:10,104,050...10,122,057
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G |
Vim |
vimentin |
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ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182
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G |
Amn |
amnion associated transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type |
ClinVar |
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:21750092 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:30523278 PMID:32045704 More...
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NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234
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G |
Cblif |
cobalamin binding intrinsic factor |
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ISO |
DNA:polymorphisms, missense mutations, splice sites:exon,intron: protein:increased excretion:urine: |
RGD |
PMID:10435666 PMID:15738392 |
RGD:11049583 RGD:11049586 |
NCBI chrNW_004936581:2,919,793...2,933,743
Ensembl chrNW_004936581:2,920,355...2,933,403
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G |
Cdc42bpb |
CDC42 binding protein kinase beta |
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ISO |
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type |
ClinVar |
PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:32045704 More...
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NCBI chrNW_004936835:975,941...1,026,046
Ensembl chrNW_004936835:975,960...1,026,025
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G |
Cubn |
cubilin |
|
ISO |
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type |
OMIM ClinVar |
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:17668238 PMID:21208123 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27197912 PMID:28492532 PMID:29402915 PMID:29801666 PMID:30220432 PMID:30547231 PMID:31497480 PMID:31613795 PMID:33226606 PMID:33532864 PMID:34610128 PMID:34979989 PMID:36112210 PMID:36891821 More...
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NCBI chrNW_004936520:10,140,784...10,410,082
Ensembl chrNW_004936520:10,140,784...10,409,851
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G |
Amn |
amnion associated transmembrane protein |
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ISO |
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type |
OMIM ClinVar |
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:26040326 PMID:28492532 PMID:30523278 PMID:32045704 More...
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NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234
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G |
Cdc42bpb |
CDC42 binding protein kinase beta |
|
ISO |
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE |
ClinVar |
PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:28492532 PMID:32045704 More...
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NCBI chrNW_004936835:975,941...1,026,046
Ensembl chrNW_004936835:975,960...1,026,025
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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 chrNW_004936488:3,526,875...3,538,851
Ensembl chrNW_004936488:3,523,344...3,538,858
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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 chrNW_004936532:1,816,573...1,866,029
Ensembl chrNW_004936532:1,816,573...1,861,250
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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 chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644
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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:16199547 PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 PMID:26997947 PMID:28492532 More...
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NCBI chrNW_004936618:1,694,886...1,792,586
Ensembl chrNW_004936618:1,689,646...1,792,802
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G |
Mmachc |
metabolism of cobalamin associated C |
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ISO |
ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | 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 ClinVar |
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:21697092 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: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:31589614 PMID:31998365 PMID:32058304 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:35156754 PMID:35190856 PMID:35193651 PMID:35361390 PMID:36184083 PMID:36338977 PMID:38387306 More...
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NCBI chrNW_004936474:26,636,277...26,641,486
Ensembl chrNW_004936474:26,636,245...26,641,486
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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 chrNW_004936469:27,771,741...27,804,324
Ensembl chrNW_004936469:27,771,937...27,787,233
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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:9536098 PMID:16311595 PMID:17576681 PMID:20631720 PMID:23954310 PMID:25388550 PMID:25741868 PMID:25772322 PMID:27383490 PMID:28327205 PMID:28492532 PMID:29302025 PMID:32099815 PMID:34215320 PMID:35190856 More...
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NCBI chrNW_004936474:26,641,776...26,653,291
Ensembl chrNW_004936474:26,639,259...26,653,328
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G |
Thap11 |
THAP domain containing 11 |
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ISO |
OMIM:277400 |
MouseDO |
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NCBI chrNW_004936475:18,209,683...18,212,294
Ensembl chrNW_004936475:18,210,732...18,211,634
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G |
Cblif |
cobalamin binding intrinsic factor |
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ISO |
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RGD |
PMID:167441 PMID:4434116 |
RGD:11049584 RGD:11049587 |
NCBI chrNW_004936581:2,919,793...2,933,743
Ensembl chrNW_004936581:2,920,355...2,933,403
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
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RGD |
PMID:16716410 |
RGD:2313422 |
NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:16716410 |
RGD:2313422 |
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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G |
Tcn2 |
transcobalamin 2 |
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ISO |
ClinVar Annotator: match by term: Transcobalamin II deficiency |
OMIM ClinVar |
PMID:2430590 PMID:7849710 PMID:7980584 PMID:9536098 PMID:10518276 PMID:12091374 PMID:12194912 PMID:12707225 PMID:14632784 PMID:16199547 PMID:17220211 PMID:17576681 PMID:18956254 PMID:19373259 PMID:20352340 PMID:20607612 PMID:22188304 PMID:24033266 PMID:25741868 PMID:25914105 PMID:26827111 PMID:27155006 PMID:28492532 PMID:29631995 PMID:31666257 PMID:32888943 PMID:33023511 PMID:34440436 More...
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NCBI chrNW_004936904:97,535...113,886
Ensembl chrNW_004936904:95,542...113,985
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