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G |
Ephb4 |
EPH receptor B4 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 |
OMIM ClinVar |
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 PMID:30578106 PMID:32267001 PMID:33240318 More...
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NCBI chrNW_004955573:132,328...150,879
Ensembl chrNW_004955573:132,328...152,595
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G |
Mdfic |
MyoD family inhibitor domain containing |
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ISO |
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY |
ClinVar |
PMID:25741868 PMID:35235341 |
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NCBI chrNW_004955432:20,790,404...20,869,521
Ensembl chrNW_004955432:20,808,499...20,871,886
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G |
Slc12a9 |
solute carrier family 12 member 9 |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955573:107,337...125,875
Ensembl chrNW_004955573:107,044...125,875
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G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
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ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955555:1,493,600...1,509,113
Ensembl chrNW_004955555:1,490,052...1,509,113
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G |
Piezo1 |
piezo type mechanosensitive ion channel component 1 (Er blood group) |
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ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH |
OMIM ClinVar |
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29952828 More...
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NCBI chrNW_004955541:2,618,167...2,655,349
Ensembl chrNW_004955541:2,618,438...2,643,771
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G |
Ermap |
erythroblast membrane associated protein (Scianna blood group) |
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ISO |
ClinVar Annotator: match by term: Radin blood group |
ClinVar |
PMID:12393480 |
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NCBI chrNW_004955537:2,340,282...2,360,925
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G |
Polr1c |
RNA polymerase I and III subunit C |
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ISO |
ClinVar Annotator: match by term: Fetal Erythroblastosis |
ClinVar |
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NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591
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G |
Slc14a1 |
solute carrier family 14 member 1 (Kidd blood group) |
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ISO |
ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM |
ClinVar |
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NCBI chrNW_004955402:31,320,897...31,343,774
Ensembl chrNW_004955402:31,320,591...31,343,829
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G |
Slc29a1 |
solute carrier family 29 member 1 (Augustine blood group) |
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ISO |
ClinVar Annotator: match by term: Fetal Erythroblastosis |
ClinVar |
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NCBI chrNW_004955437:9,850,279...9,862,412
Ensembl chrNW_004955437:9,855,434...9,861,929
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia |
OMIM ClinVar |
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:36307859 More...
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NCBI chrNW_004955520:401,733...418,279
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G |
Acta1 |
actin alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955492:8,644,696...8,647,412
Ensembl chrNW_004955492:8,644,146...8,647,523
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G |
Alb |
albumin |
disease_progression |
ISO |
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RGD |
PMID:17195148 |
RGD:11036098 |
NCBI chrNW_004955447:9,327...21,212
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G |
Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004955442:12,752,468...12,775,081
Ensembl chrNW_004955442:12,752,008...12,775,081
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
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G |
Ccbe1 |
collagen and calcium binding EGF domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19911200 |
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NCBI chrNW_004955402:43,551,810...43,819,731
Ensembl chrNW_004955402:43,555,924...43,819,706
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G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873
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G |
Ctsa |
cathepsin A |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chrNW_004955445:11,399,151...11,405,069
Ensembl chrNW_004955445:11,399,151...11,405,069
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G |
CUNH1orf105 |
chromosome unknown C1orf105 homolog |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chrNW_004955406:12,883,547...12,919,467
Ensembl chrNW_004955406:12,883,078...12,921,221
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G |
Dhcr24 |
24-dehydrocholesterol reductase |
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ISO |
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133
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G |
Dnah14 |
dynein axonemal heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chrNW_004955520:418,041...735,810
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G |
Dnah9 |
dynein axonemal heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 |
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NCBI chrNW_004955467:5,357,500...5,677,144
Ensembl chrNW_004955467:5,357,500...5,677,755
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G |
Ehbp1l1 |
EH domain binding protein 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004955422:19,670,778...19,689,008
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G |
Fcrl4 |
Fc receptor like 4 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004955468:9,478,180...9,503,127
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G |
Fen1 |
flap structure-specific endonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004955511:5,918,667...5,922,506
Ensembl chrNW_004955511:5,918,667...5,922,506
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G |
Foxp3 |
forkhead box P3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 PMID:25741868 PMID:28492532 PMID:28778586 PMID:28783662 PMID:30293990 PMID:30443250 PMID:31130284 PMID:33637067 More...
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NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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G |
Fzd6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:26036949 |
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NCBI chrNW_004955417:27,465,730...27,493,752
Ensembl chrNW_004955417:27,465,701...27,494,790
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G |
Galnt14 |
polypeptide N-acetylgalactosaminyltransferase 14 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chrNW_004955469:12,650,191...12,865,779
Ensembl chrNW_004955469:12,649,071...12,866,010
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G |
Gusb |
glucuronidase beta |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 PMID:31130284 PMID:31497474 More...
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NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
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NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
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G |
Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
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G |
Kif19 |
kinesin family member 19 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004955553:1,219,462...1,247,161
Ensembl chrNW_004955553:1,218,659...1,248,879
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:24549645 PMID:25741868 |
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NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
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NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700
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G |
Lztr1 |
leucine zipper like post translational regulator 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 |
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NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522
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G |
Mocs3 |
molybdenum cofactor synthesis 3 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004955445:7,470,030...7,472,323
Ensembl chrNW_004955445:7,470,888...7,472,267
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G |
Mybphl |
myosin binding protein H like |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004955435:12,705,467...12,725,320
Ensembl chrNW_004955435:12,705,467...12,725,320
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G |
Myo18a |
myosin XVIIIA |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955481:4,020,274...4,115,014
Ensembl chrNW_004955481:4,028,706...4,113,878
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G |
Myom1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 PMID:28492532 PMID:31130284 |
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NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583
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G |
Myrf |
myelin regulatory factor |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955511:5,927,103...5,949,289
Ensembl chrNW_004955511:5,927,698...5,942,242
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G |
Neb |
nebulin |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 PMID:28492532 More...
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NCBI chrNW_004955440:17,060,303...17,259,558
Ensembl chrNW_004955440:17,060,498...17,259,558
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G |
Neu1 |
neuraminidase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
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NCBI chrNW_004955437:378,708...383,076
Ensembl chrNW_004955437:378,708...383,085
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955408:29,416,393...29,547,444
Ensembl chrNW_004955408:29,413,595...29,542,768
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G |
Piezo1 |
piezo type mechanosensitive ion channel component 1 (Er blood group) |
|
ISO |
ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 PMID:30655378 PMID:30887001 PMID:31091145 PMID:31624108 PMID:31680349 PMID:32981126 PMID:33027564 More...
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NCBI chrNW_004955541:2,618,167...2,655,349
Ensembl chrNW_004955541:2,618,438...2,643,771
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G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis class C |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chrNW_004955406:12,891,187...12,893,935
Ensembl chrNW_004955406:12,891,187...12,893,935
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G |
Prpf19 |
pre-mRNA processing factor 19 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004955511:5,546,212...5,552,368
Ensembl chrNW_004955511:5,545,989...5,557,792
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G |
Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17339163 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18470943 PMID:18562489 PMID:18678287 PMID:19008228 PMID:19020799 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19835954 PMID:20651068 PMID:21106241 PMID:21365683 PMID:21784453 PMID:22371576 PMID:22420426 PMID:22681964 PMID:23321623 PMID:24033266 PMID:24183200 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27030275 PMID:27069254 PMID:27276561 PMID:28492532 PMID:30732632 PMID:30896080 More...
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NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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G |
Rapsn |
receptor associated protein of the synapse |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:10449659 PMID:25741868 PMID:31680349 |
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NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289
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G |
Rit1 |
Ras like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 PMID:25741868 PMID:26242988 PMID:26446362 PMID:26714497 PMID:26757980 PMID:27101134 PMID:27699752 PMID:28323383 PMID:28492532 PMID:30266093 PMID:33190430 PMID:33258288 More...
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NCBI chrNW_004955545:2,089,530...2,099,404
Ensembl chrNW_004955545:2,089,536...2,099,404
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G |
Rock2 |
Rho associated coiled-coil containing protein kinase 2 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955487:5,856,190...5,972,408
Ensembl chrNW_004955487:5,859,204...5,972,401
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 More...
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NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036
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G |
Ryr3 |
ryanodine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955416:712,506...1,260,111
Ensembl chrNW_004955416:713,373...1,259,885
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G |
Shoc2 |
SHOC2 leucine rich repeat scaffold protein |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 More...
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NCBI chrNW_004955485:430,493...517,767
Ensembl chrNW_004955485:430,493...517,126
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G |
Slc26a3 |
solute carrier family 26 member 3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 |
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NCBI chrNW_004955410:12,102,356...12,128,620
Ensembl chrNW_004955410:12,102,356...12,128,620
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Suz12 |
SUZ12 polycomb repressive complex 2 subunit |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955481:6,867,175...6,917,548
Ensembl chrNW_004955481:6,867,175...6,917,548
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Svopl |
SVOP like |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004955494:4,252,086...4,353,472
Ensembl chrNW_004955494:4,252,452...4,303,187
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Thsd1 |
thrombospondin type 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 PMID:28749478 |
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NCBI chrNW_004955431:5,472,209...5,495,937
Ensembl chrNW_004955431:5,472,287...5,495,995
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Ubn1 |
ubinuclein 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chrNW_004955442:12,627,530...12,654,159
Ensembl chrNW_004955442:12,627,530...12,654,159
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Vps13d |
vacuolar protein sorting 13 homolog D |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004955486:1,515,630...1,772,107
Ensembl chrNW_004955486:1,513,712...1,767,956
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Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia |
OMIM ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
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NCBI chrNW_004955420:26,342,129...26,446,959
Ensembl chrNW_004955420:26,343,649...26,441,736
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Irx5 |
iroquois homeobox 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22581230 |
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NCBI chrNW_004955433:12,518,786...12,522,744
Ensembl chrNW_004955433:12,519,338...12,522,118
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LOC102027549 |
serotransferrin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11110675 |
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NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910
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Tfrc |
transferrin receptor |
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ISO |
mRNA,protein:decreased expression: erythrocyte: |
RGD |
PMID:18552213 |
RGD:11062089 |
NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691
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Tnf |
tumor necrosis factor |
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ISO |
associated with Arthritis, Rheumatoid |
RGD |
PMID:18205195 |
RGD:10450526 |
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Steap3 |
STEAP3 metalloreductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004955459:10,441,906...10,485,235
Ensembl chrNW_004955459:10,441,752...10,485,269
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Steap3 |
STEAP3 metalloreductase |
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ISO |
ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 |
OMIM ClinVar |
PMID:22031863 |
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NCBI chrNW_004955459:10,441,906...10,485,235
Ensembl chrNW_004955459:10,441,752...10,485,269
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App |
amyloid beta precursor protein |
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ISO |
mRNA:decreased expression:hippocampus: |
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chrNW_004955407:25,725,259...25,973,582
Ensembl chrNW_004955407:25,722,849...25,974,268
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Atp7a |
ATPase copper transporting alpha |
severity |
ISO |
mRNA:increased expression:small intestine mucosa (rat) mRNA:increased expression:duodenum (mouse) DNA:deletion:cds:p.A799_L800del (mouse) |
RGD |
PMID:15637178 PMID:23776592 |
RGD:11252172 RGD:2315589 |
NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
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C1qa |
complement C1q A chain |
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ISO |
mRNA:increased expression:hippocampus: |
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chrNW_004955452:2,753,362...2,756,220
Ensembl chrNW_004955452:2,752,970...2,756,488
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Cst3 |
cystatin C |
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ISO |
mRNA:increased expression:hippocampus (rat) |
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chrNW_004955415:30,507,972...30,512,109
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Fn1 |
fibronectin 1 |
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ISO |
mRNA:increased expression:hippocampus: |
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975
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Gpx1 |
glutathione peroxidase 1 |
treatment |
ISO |
associated with Renal Insufficiency, Chronic |
RGD |
PMID:7861256 PMID:24691014 |
RGD:11352760 RGD:11352819 |
NCBI chrNW_004955532:1,298,336...1,298,830
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Gsr |
glutathione-disulfide reductase |
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ISO |
protein:increased activity:plasma: |
RGD |
PMID:25097522 |
RGD:11059505 |
NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
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Hamp |
hepcidin antimicrobial peptide |
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ISO |
mRNA:decreased expression:liver |
RGD |
PMID:17218383 PMID:22457245 |
RGD:11041606 RGD:11041634 |
NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
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Hfe |
homeostatic iron regulator |
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ISO |
associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) |
RGD |
PMID:29194702 |
RGD:14701052 |
NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143
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Il6 |
interleukin 6 |
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ISO |
associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) |
RGD |
PMID:18808386 |
RGD:11062011 |
NCBI chrNW_004955410:25,079,835...25,084,390
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Ireb2 |
iron responsive element binding protein 2 |
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ISO |
mRNA:increased expression:duodenal mucosa (rat) protein:altered activity:intestinal villus of duodenum (rat) |
RGD |
PMID:10095770 PMID:18549630 |
RGD:12904038 RGD:12910699 |
NCBI chrNW_004955450:852,554...898,908
Ensembl chrNW_004955450:852,554...900,011
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Itga2 |
integrin subunit alpha 2 |
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ISO |
DNA:SNP: :807C>T (human) |
RGD |
PMID:12225391 |
RGD:11530068 |
NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170
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Kat5 |
lysine acetyltransferase 5 |
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ISO |
mRNA:increased expression:hippocampus (rat) |
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chrNW_004955422:19,557,498...19,565,044
Ensembl chrNW_004955422:19,557,498...19,565,036
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LOC102027549 |
serotransferrin |
susceptibility |
ISO |
DNA:missense mutation:exon:p.G277S ClinVar Annotator: match by term: Iron deficiency anemia |
RGD ClinVar |
PMID:11703331 PMID:12752114 PMID:16398662 PMID:28492532 |
RGD:1601513 |
NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910
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Pon1 |
paraoxonase 1 |
treatment |
ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:16684543 PMID:26926576 |
RGD:11552586 RGD:11553834 |
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
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ISO |
protein:decreased expression:erythrocyte, membrane (rat) |
RGD |
PMID:1317772 |
RGD:10450513 |
NCBI chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103
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Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17057260 |
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NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
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Tfrc |
transferrin receptor |
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ISO |
protein:increased expression:serum: mRNA:increased expression:placenta: CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15104997 PMID:16733738 PMID:17162259 PMID:17163184 PMID:17877204 PMID:26303393 More...
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RGD:11062096 RGD:11062104 RGD:11062105 |
NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691
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Tmprss6 |
transmembrane serine protease 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18408718 PMID:22169218 |
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NCBI chrNW_004955413:23,579,946...23,615,277
Ensembl chrNW_004955413:23,580,530...23,612,276
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Tnf |
tumor necrosis factor |
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ISO |
DNA:SNP:promoter:rs1800629 (human) |
RGD |
PMID:18716131 |
RGD:10450563 |
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Mdfic |
MyoD family inhibitor domain containing |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 12 |
OMIM ClinVar |
PMID:25741868 PMID:35235341 |
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NCBI chrNW_004955432:20,790,404...20,869,521
Ensembl chrNW_004955432:20,808,499...20,871,886
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Thsd1 |
thrombospondin type 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 13 |
OMIM ClinVar |
PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 |
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NCBI chrNW_004955431:5,472,209...5,495,937
Ensembl chrNW_004955431:5,472,287...5,495,995
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Calcrl |
calcitonin receptor like receptor |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 8 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chrNW_004955403:11,016,753...11,118,494
Ensembl chrNW_004955403:11,080,874...11,118,494
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Clpb |
ClpB family mitochondrial disaggregase |
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ISO |
ClinVar Annotator: match by term: Microcytic anemia |
ClinVar |
PMID:34140661 |
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NCBI chrNW_004955414:18,968,144...19,106,241
Ensembl chrNW_004955414:18,967,435...19,106,241
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Dnm2 |
dynamin 2 |
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ISO |
OMIM:206200 |
MouseDO |
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NCBI chrNW_004955495:1,860,644...1,934,589
Ensembl chrNW_004955495:1,860,644...1,934,818
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Tmprss6 |
transmembrane serine protease 6 |
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ISO |
ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia | ClinVar Annotator: match by term: TMPRSS6-related condition |
OMIM ClinVar |
PMID:18408718 PMID:18596229 PMID:19357398 PMID:19592582 PMID:19818657 PMID:20719010 PMID:23319530 PMID:25156943 PMID:25588876 PMID:25741868 PMID:25873000 PMID:27365303 PMID:27643674 PMID:28460265 PMID:28492532 PMID:30135444 PMID:32581362 More...
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NCBI chrNW_004955413:23,579,946...23,615,277
Ensembl chrNW_004955413:23,580,530...23,612,276
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Ireb2 |
iron responsive element binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30915432 PMID:31243445 |
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NCBI chrNW_004955450:852,554...898,908
Ensembl chrNW_004955450:852,554...900,011
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Cftr |
CF transmembrane conductance regulator |
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ISO |
ClinVar Annotator: match by term: Fetal cystic hygroma |
ClinVar |
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
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NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
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Lztr1 |
leucine zipper like post translational regulator 1 |
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ISO |
ClinVar Annotator: match by term: Fetal cystic hygroma |
ClinVar |
PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31533111 PMID:31825158 More...
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NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522
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Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Nuchal bleb, familial |
ClinVar |
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
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NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028
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Alas2 |
5'-aminolevulinate synthase 2 |
onset |
ISO |
ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia DNA:mutations:exons:p.K299Q,A172T(human) DNA:mutation:exon: 1236 G> A, p.C395Y (human) |
OMIM ClinVar RGD |
PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:12663458 PMID:16121195 PMID:16446107 PMID:18823803 PMID:20848343 PMID:21309041 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23315997 PMID:23409301 PMID:24166784 PMID:25741868 PMID:28492532 PMID:28840292 PMID:30678654 PMID:32297424 More...
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RGD:11035241 RGD:11035243 |
NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864
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Apex2 |
apurinic/apyrimidinic endodeoxyribonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 |
ClinVar |
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NCBI chrNW_004955475:2,343,992...2,359,492
Ensembl chrNW_004955475:2,344,087...2,359,906
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Slc25a38 |
solute carrier family 25 member 38 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955420:29,988,147...29,996,485
Ensembl chrNW_004955420:29,988,147...29,996,486
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