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G |
Epo |
erythropoietin |
|
ISO |
associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid |
RGD |
PMID:15502930 |
RGD:2313897 |
NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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G |
Faah |
fatty acid amide hydrolase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16886060 |
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NCBI chrNW_004936474:27,419,211...27,441,061
Ensembl chrNW_004936474:27,419,078...27,441,039
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11932298 |
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NCBI chrNW_004936475:17,882,663...17,888,708
Ensembl chrNW_004936475:17,882,575...17,887,748
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G |
Jak2 |
Janus kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19636672 |
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NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867
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G |
Ncoa2 |
nuclear receptor coactivator 2 |
|
ISO |
mRNA:decreased expression:uterus (rat) |
RGD |
PMID:20660062 |
RGD:5688349 |
NCBI chrNW_004936496:14,844,923...15,102,922
Ensembl chrNW_004936496:14,844,855...15,016,454
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G |
Nfkbia |
NFKB inhibitor alpha |
susceptibility |
ISO |
associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) |
RGD |
PMID:25792174 |
RGD:11342310 |
NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612
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G |
Serpine1 |
serpin family E member 1 |
|
ISO |
DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:10909993 |
RGD:13208506 |
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
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G |
Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Bowen-Conradi syndrome |
OMIM ClinVar |
PMID:19463982 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936709:847,229...854,471
Ensembl chrNW_004936709:845,633...854,976
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10716473 |
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NCBI chrNW_004936735:209,369...234,582
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10716473 |
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NCBI chrNW_004936549:7,015,595...7,016,246
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G |
Prl |
prolactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18926768 |
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NCBI chrNW_004936552:7,204,298...7,212,632
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10716473 |
|
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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G |
Ephb4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | 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:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:32267001 PMID:33240318 More...
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NCBI chrNW_004936543:794,837...811,637
Ensembl chrNW_004936543:794,725...811,637
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G |
Mdfic |
MyoD family inhibitor domain containing |
|
ISO |
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY |
ClinVar |
PMID:25741868 PMID:35235341 |
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NCBI chrNW_004936589:3,838,064...3,925,029
Ensembl chrNW_004936589:3,838,064...3,925,029
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G |
Slc12a9 |
solute carrier family 12 member 9 |
|
ISO |
ClinVar Annotator: match by term: Lymphatic malformation 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936543:828,029...837,998
Ensembl chrNW_004936543:827,952...838,062
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G |
Ager |
advanced glycosylation end-product specific receptor |
|
ISO |
|
RGD |
PMID:22578261 |
RGD:6767308 |
NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:villous trophoblast |
RGD |
PMID:12700199 |
RGD:12904022 |
NCBI chrNW_004936735:209,369...234,582
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21493953 |
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NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315
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G |
Il6 |
interleukin 6 |
|
ISO |
associated with Premature Birth;protein:increased expression:tracheal aspirate fluid: protein:increased expression: cervicovaginal fluid : protein:increased expression:plasma |
RGD |
PMID:15547537 PMID:25011638 PMID:25687566 |
RGD:12791291 RGD:12792243 RGD:5128667 |
NCBI chrNW_004936549:7,015,595...7,016,246
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G |
Lta |
lymphotoxin alpha |
severity |
ISO |
associated with Premature Birth;DNA:SNP:promoter:250G>A (human) |
RGD |
PMID:15128916 |
RGD:12904055 |
NCBI chrNW_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022
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G |
Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:12712078 |
RGD:13204828 |
NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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G |
Tgfb1 |
transforming growth factor beta 1 |
severity |
ISO |
protein:increased expression:amniotic fluid |
RGD |
PMID:19332995 |
RGD:4145137 |
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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G |
Tnf |
tumor necrosis factor |
no_association severity |
ISO |
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human) associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human) |
RGD |
PMID:15128916 |
RGD:12904055 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
|
ISO |
associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: |
RGD |
PMID:19591072 |
RGD:127229904 |
NCBI chrNW_004936476:18,577,825...18,583,675
Ensembl chrNW_004936476:18,574,381...18,583,647
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G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
protein:increased expression:testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689
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G |
Igf2 |
insulin like growth factor 2 |
disease_progression |
ISO |
protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR |
RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
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G |
Insr |
insulin receptor |
disease_progression |
ISO |
protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR |
RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chrNW_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
DNA, protein:hypermethylation, decreased expression:promoter, placenta |
RGD |
PMID:15507671 |
RGD:2290418 |
NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190
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G |
Rnf135 |
ring finger protein 135 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
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NCBI chrNW_004936538:2,741,308...2,757,042
Ensembl chrNW_004936538:2,741,220...2,757,240
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G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
|
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_004936706:940,585...952,484
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G |
Piezo1 |
piezo type mechanosensitive ion channel component 1 (Er blood group) |
|
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_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233
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G |
Fadd |
Fas associated via death domain |
|
ISO |
|
RGD |
PMID:26419589 |
RGD:13792560 |
NCBI chrNW_004936599:633,501...639,412
Ensembl chrNW_004936599:633,330...639,456
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G |
Il6 |
interleukin 6 |
treatment |
ISO |
|
RGD |
PMID:27106269 |
RGD:11062145 |
NCBI chrNW_004936549:7,015,595...7,016,246
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G |
Cdk2 |
cyclin dependent kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chrNW_004936646:379,849...385,648
Ensembl chrNW_004936646:379,842...385,877
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G |
Cdkn1a |
cyclin dependent kinase inhibitor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
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G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent |
RGD |
PMID:18384776 |
RGD:2306554 |
NCBI chrNW_004936617:4,224,131...4,239,080
Ensembl chrNW_004936617:4,224,131...4,238,796
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G |
Foxo3 |
forkhead box O3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837
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G |
Gpx4 |
glutathione peroxidase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12566075 |
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NCBI chrNW_004936588:506,101...508,469
Ensembl chrNW_004936588:506,147...508,101
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17008600 |
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NCBI chrNW_004936599:2,437,061...2,456,141
Ensembl chrNW_004936599:2,437,032...2,456,147
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G |
Igf2 |
insulin like growth factor 2 |
|
ISO |
DNA:methylation: : |
RGD |
PMID:18778817 |
RGD:5509951 |
NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
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G |
Il18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:21920610 |
RGD:8655947 |
NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
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G |
Lcmt1 |
leucine carboxyl methyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17724024 |
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NCBI chrNW_004936501:9,354,607...9,397,675
Ensembl chrNW_004936501:9,354,565...9,397,686
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G |
Lif |
LIF interleukin 6 family cytokine |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23409146 |
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NCBI chrNW_004936904:410,043...413,256
Ensembl chrNW_004936904:410,043...413,257
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G |
Map3k7 |
mitogen-activated protein kinase kinase kinase 7 |
|
ISO |
|
RGD |
PMID:22972987 |
RGD:155663421 |
NCBI chrNW_004936510:1,772,971...1,836,075
Ensembl chrNW_004936510:1,772,971...1,837,765
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G |
Nlrp5 |
NLR family pyrin domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Preimplantation embryonic lethality |
ClinVar |
|
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NCBI chrNW_004936562:1,069,745...1,092,383
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G |
Parg |
poly(ADP-ribose) glycohydrolase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15591342 |
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NCBI chrNW_004936728:428,028...538,413
Ensembl chrNW_004936728:428,028...541,530
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G |
Sall1 |
spalt like transcription factor 1 |
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ISO |
|
RGD |
PMID:11688560 |
RGD:155641230 |
NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413
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G |
Sall4 |
spalt like transcription factor 4 |
|
ISO |
|
RGD |
PMID:16790473 |
RGD:155631313 |
NCBI chrNW_004936514:3,285,778...3,302,179
Ensembl chrNW_004936514:3,285,531...3,303,644
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G |
Slc31a1 |
solute carrier family 31 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11391004 |
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NCBI chrNW_004936559:333,461...364,737
Ensembl chrNW_004936559:331,917...364,852
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G |
Tab2 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 2 |
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ISO |
|
RGD |
PMID:22972987 |
RGD:155663421 |
NCBI chrNW_004936489:2,371,953...2,421,882
Ensembl chrNW_004936489:2,372,216...2,424,515
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
|
RGD |
PMID:22972987 |
RGD:155663421 |
NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
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G |
Ube2n |
ubiquitin conjugating enzyme E2 N |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16738225 |
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G |
Cep128 |
centrosomal protein 128 |
|
ISO |
ClinVar Annotator: match by term: Familial gestational hyperthyroidism |
ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936488:9,246,498...9,419,164
Ensembl chrNW_004936488:9,019,397...9,395,068
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G |
Tshr |
thyroid stimulating hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Familial gestational hyperthyroidism |
OMIM ClinVar |
PMID:7528344 PMID:8636266 PMID:8681963 PMID:8954020 PMID:8964822 PMID:9185526 PMID:9329388 PMID:9360555 PMID:9589691 PMID:9854118 PMID:10560953 PMID:11442002 PMID:12050212 PMID:14725684 PMID:15693879 PMID:16060907 PMID:16756469 PMID:17526952 PMID:19158199 PMID:19240155 PMID:19506388 PMID:19820021 PMID:20718767 PMID:21490078 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22405933 PMID:22876533 PMID:23329763 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25248169 PMID:25557138 PMID:25741868 PMID:26709262 PMID:27060741 PMID:27084275 PMID:27255745 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:28561265 PMID:29092890 PMID:30083029 PMID:30240412 PMID:31356790 More...
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NCBI chrNW_004936488:9,428,053...9,560,856
Ensembl chrNW_004936488:9,427,962...9,560,685
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G |
Acta1 |
actin alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence |
ClinVar |
PMID:25741868 PMID:33060286 |
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NCBI chrNW_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430
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G |
Musk |
muscle associated receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30429133 More...
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NCBI chrNW_004936559:2,387,019...2,486,685
Ensembl chrNW_004936559:2,387,027...2,486,552
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G |
Prg4 |
proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936481:4,111,417...4,128,411
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G |
Rapsn |
receptor associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 PMID:22326364 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:26332594 PMID:27452334 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885 More...
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NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289
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G |
Vps13d |
vacuolar protein sorting 13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chrNW_004936474:955,081...1,194,200
Ensembl chrNW_004936474:955,040...1,195,859
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G |
Acp2 |
acid phosphatase 2, lysosomal |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:1,952,581...1,960,327
Ensembl chrNW_004936562:1,952,536...1,960,327
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G |
Acta1 |
actin alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286 |
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NCBI chrNW_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430
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Add1 |
adducin 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
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NCBI chrNW_004936477:20,695,109...20,766,053
Ensembl chrNW_004936477:20,691,951...20,766,152
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Adss1 |
adenylosuccinate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 |
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NCBI chrNW_004936621:655,004...667,608
Ensembl chrNW_004936621:655,008...664,762
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Aldh5a1 |
aldehyde dehydrogenase 5 family member A1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936671:843,577...865,798
Ensembl chrNW_004936671:843,577...865,881
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Arfgap2 |
ARF GTPase activating protein 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:1,996,000...2,005,850
Ensembl chrNW_004936562:1,996,000...2,006,554
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Asah1 |
N-acylsphingosine amidohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 |
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NCBI chrNW_004936554:104,666...141,761
Ensembl chrNW_004936554:104,229...141,512
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Ascc1 |
activating signal cointegrator 1 complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 |
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NCBI chrNW_004936521:6,695,366...6,791,480
Ensembl chrNW_004936521:6,696,120...6,791,873
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Aspm |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752
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Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524
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Aven |
apoptosis and caspase activation inhibitor |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936673:2,434,984...2,568,868
Ensembl chrNW_004936673:2,435,308...2,565,180
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Bltp1 |
bridge-like lipid transfer protein family member 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936662:1,329,646...1,526,610
Ensembl chrNW_004936662:1,330,446...1,526,633
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Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936525:4,560,293...4,568,431
Ensembl chrNW_004936525:4,561,507...4,568,409
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Cntnap1 |
contactin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936490:17,412,837...17,430,123
Ensembl chrNW_004936490:17,412,878...17,429,041
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Cstpp1 |
centriolar satellite-associated tubulin polyglutamylase complex regulator 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:2,005,835...2,199,527
Ensembl chrNW_004936562:2,005,626...2,199,691
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Ddb2 |
damage specific DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:1,960,406...1,974,809
Ensembl chrNW_004936562:1,960,406...1,974,867
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Dqx1 |
DEAQ-box RNA dependent ATPase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936556:731,169...738,870
Ensembl chrNW_004936556:730,716...738,562
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Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954
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Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chrNW_004936501:8,190,466...8,209,320
Ensembl chrNW_004936501:8,188,071...8,209,386
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Exosc3 |
exosome component 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 PMID:28492532 PMID:30025162 PMID:30221345 More...
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NCBI chrNW_004936524:5,580,855...5,586,170
Ensembl chrNW_004936524:5,581,090...5,586,128
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Fbln1 |
fibulin 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936629:4,170,186...4,242,100
Ensembl chrNW_004936629:4,170,817...4,242,103
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Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25558065 |
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NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435
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Gcn1 |
GCN1 activator of EIF2AK4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936668:718,961...786,101
Ensembl chrNW_004936668:724,031...785,533
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Gfra4 |
GDNF family receptor alpha 4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936485:15,135,245...15,139,639
Ensembl chrNW_004936485:15,135,245...15,139,000
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Gldn |
gliomedin |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28726266 PMID:31680123 PMID:32812332 |
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NCBI chrNW_004936471:13,234,478...13,294,306
Ensembl chrNW_004936471:13,234,478...13,292,323
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Hgfac |
HGF activator |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
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NCBI chrNW_004936477:20,291,791...20,298,764
Ensembl chrNW_004936477:20,291,852...20,298,764
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Iqsec3 |
IQ motif and Sec7 domain ArfGEF 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936606:271,217...388,505
Ensembl chrNW_004936606:271,291...374,940
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Lgi4 |
leucine rich repeat LGI family member 4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936570:1,122,987...1,131,270
Ensembl chrNW_004936570:1,123,298...1,132,011
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LOC101956962 |
thioredoxin domain-containing protein 8 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936559:2,753,167...2,765,110
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G |
LOC101958945 |
1,4-alpha-glucan-branching enzyme |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chrNW_004936505:2,077,206...2,242,079
Ensembl chrNW_004936505:1,974,264...2,241,427
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G |
LOC101966195 |
huntingtin |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
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NCBI chrNW_004936477:20,443,101...20,577,167
Ensembl chrNW_004936477:20,443,113...20,577,071 Ensembl chrNW_004936477:20,443,113...20,577,071
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Lrp4 |
LDL receptor related protein 4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937
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Madd |
MAP kinase activating death domain |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:1,891,120...1,936,559
Ensembl chrNW_004936562:1,892,033...1,932,418
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G |
Mfsd10 |
major facilitator superfamily domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
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NCBI chrNW_004936477:20,691,433...20,694,513
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G |
Msantd1 |
Myb/SANT DNA binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
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NCBI chrNW_004936477:20,431,866...20,438,330
Ensembl chrNW_004936477:20,431,861...20,440,848
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Musk |
muscle associated receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I |
OMIM ClinVar |
PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20371544 PMID:23326516 PMID:24122059 PMID:24183479 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25640679 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:28518170 PMID:29663639 PMID:29704306 PMID:29947050 PMID:30429133 PMID:30719842 PMID:31750350 PMID:31920924 PMID:31974414 PMID:32253145 PMID:32453097 PMID:32732226 PMID:35587316 PMID:36308527 PMID:37091828 More...
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NCBI chrNW_004936559:2,387,019...2,486,685
Ensembl chrNW_004936559:2,387,027...2,486,552
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Mybpc3 |
myosin binding protein C3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648
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Naga |
alpha-N-acetylgalactosaminidase |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936718:31,946...55,822
Ensembl chrNW_004936718:37,135...48,893
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Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:27214504 PMID:31680123 |
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NCBI chrNW_004936472:9,502,054...9,789,714
Ensembl chrNW_004936472:9,502,030...9,789,638
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27793025 PMID:28492532 PMID:31159747 PMID:31891871 PMID:33471991 More...
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NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261
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G |
Nop14 |
NOP14 nucleolar protein |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
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NCBI chrNW_004936477:20,668,817...20,689,931
Ensembl chrNW_004936477:20,668,688...20,691,694
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G |
Nr1h3 |
nuclear receptor subfamily 1 group H member 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:1,937,665...1,946,680
Ensembl chrNW_004936562:1,937,667...1,946,669
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G |
Pacsin3 |
protein kinase C and casein kinase substrate in neurons 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:1,988,839...1,995,597
Ensembl chrNW_004936562:1,989,662...1,995,580
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G |
Piezo2 |
piezo type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123 PMID:39033378 More...
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NCBI chrNW_004936626:802,415...1,141,260
Ensembl chrNW_004936626:802,490...1,140,082
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G |
Prg4 |
proteoglycan 4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936481:4,111,417...4,128,411
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G |
Prickle1 |
prickle planar cell polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936512:1,165,159...1,270,138
Ensembl chrNW_004936512:1,163,615...1,270,255
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G |
Psmc3 |
proteasome 26S subunit, ATPase 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:1,810,883...1,817,040
Ensembl chrNW_004936562:1,810,864...1,823,077
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Rapsn |
receptor associated protein of the synapse |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-related disorder |
ClinVar |
PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16199547 PMID:16770791 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17576681 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:19620612 PMID:20157724 PMID:20301347 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:22678886 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:27966543 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:29478601 PMID:30124556 PMID:30266093 PMID:30266223 PMID:31127727 PMID:31216405 PMID:31680123 PMID:31965297 PMID:32070632 PMID:32528171 PMID:33255631 PMID:33502061 PMID:34106991 PMID:34218205 PMID:34565654 PMID:35982159 PMID:35982160 PMID:36307859 PMID:36308527 More...
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NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181
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G |
Rgs12 |
regulator of G protein signaling 12 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
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NCBI chrNW_004936477:20,300,528...20,388,212
Ensembl chrNW_004936477:20,300,521...20,388,221 Ensembl chrNW_004936477:20,300,521...20,388,221
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G |
Ror2 |
receptor tyrosine kinase like orphan receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chrNW_004936796:630,307...675,157
Ensembl chrNW_004936796:630,756...674,279
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:26332594 PMID:27452334 PMID:28492532 PMID:28818389 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885 More...
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NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289
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G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066
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G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936541:4,541,061...4,570,212
Ensembl chrNW_004936541:4,543,102...4,569,862
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G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chrNW_004936473:27,883,526...27,963,994
Ensembl chrNW_004936473:27,883,526...27,963,994
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688
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G |
Setbp1 |
SET binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123 PMID:34782754 More...
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NCBI chrNW_004936517:1,616,169...1,798,002
Ensembl chrNW_004936517:1,616,169...1,970,398
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Sh3bp2 |
SH3 domain binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 |
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NCBI chrNW_004936477:20,774,386...20,794,958
Ensembl chrNW_004936477:20,773,016...20,807,722
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Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:1,811,479...1,825,857
Ensembl chrNW_004936562:1,816,049...1,825,892
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Spag16 |
sperm associated antigen 16 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936586:3,264,953...3,407,823
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Spi1 |
Spi-1 proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chrNW_004936562:1,852,759...1,870,647
Ensembl chrNW_004936562:1,852,740...1,870,472
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Svep1 |
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936559:2,556,207...2,726,670
Ensembl chrNW_004936559:2,556,207...2,726,635
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Tmpo |
thymopoietin |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936492:14,972,391...15,000,115
Ensembl chrNW_004936492:14,971,968...15,000,060
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Txn |
thioredoxin |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936559:2,811,786...2,822,528
Ensembl chrNW_004936559:2,811,782...2,822,528
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Unc50 |
unc-50 inner nuclear membrane RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936744:1,701,988...1,710,007
Ensembl chrNW_004936744:1,701,632...1,709,826
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Vps13d |
vacuolar protein sorting 13 homolog D |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chrNW_004936474:955,081...1,194,200
Ensembl chrNW_004936474:955,040...1,195,859
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Zeb2 |
zinc finger E-box binding homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267
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Rapsn |
receptor associated protein of the synapse |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 |
OMIM ClinVar |
PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16199547 PMID:16770791 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:18252226 PMID:19620612 PMID:20157724 PMID:20301347 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:22678886 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:29478601 PMID:30124556 PMID:30266223 PMID:31127727 PMID:31216405 PMID:31680123 PMID:32070632 PMID:32528171 PMID:33255631 PMID:34106991 PMID:34218205 PMID:34302381 PMID:34565654 PMID:35982159 PMID:35982160 PMID:36307859 More...
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NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181
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Dock7 |
dedicator of cytokinesis 7 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936692:161,979...354,028
Ensembl chrNW_004936692:162,390...353,721
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Nup88 |
nucleoporin 88 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 |
OMIM ClinVar |
PMID:25741868 PMID:30543681 |
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NCBI chrNW_004936677:2,385,289...2,417,398
Ensembl chrNW_004936677:2,385,289...2,421,783
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Rabep1 |
rabaptin, RAB GTPase binding effector protein 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936677:2,417,676...2,481,587
Ensembl chrNW_004936677:2,417,679...2,512,868
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Ank3 |
ankyrin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29109170 |
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NCBI chrNW_004936614:2,664,594...2,976,174
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Apoe |
apolipoprotein E |
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ISO |
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RGD |
PMID:15007105 |
RGD:12904641 |
NCBI chrNW_004936706:1,512,438...1,516,805
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C3 |
complement C3 |
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ISO |
protein:increased activity:blood |
RGD |
PMID:30657461 |
RGD:408418720 |
NCBI chrNW_004936588:3,985,732...4,023,221
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C5 |
complement C5 |
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ISO |
protein:increased activity:blood |
RGD |
PMID:30657461 |
RGD:408418720 |
NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159
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Cat |
catalase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26074427 |
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NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
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Crhr1 |
corticotropin releasing hormone receptor 1 |
sexual_dimorphism |
ISO |
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) |
RGD |
PMID:29251811 |
RGD:401965484 |
NCBI chrNW_004936541:2,288,847...2,333,129
Ensembl chrNW_004936541:2,288,841...2,331,689
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Dio3 |
iodothyronine deiodinase 3 |
treatment |
ISO |
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RGD |
PMID:23763370 |
RGD:13432044 |
NCBI chrNW_004936604:5,241,877...5,243,910
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Dnmt1 |
DNA methyltransferase 1 |
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ISO |
mRNA,protein:increased expression:Pituitary gland (rat) |
RGD |
PMID:26509893 |
RGD:11344152 |
NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416
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Dnmt3b |
DNA methyltransferase 3 beta |
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ISO |
mRNA:increased expression:pituitary gland (rat) |
RGD |
PMID:26509893 |
RGD:11344152 |
NCBI chrNW_004936485:19,547,836...19,570,716
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Drd2 |
dopamine receptor D2 |
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ISO |
DNA:Hypermethylation:promoter mRNA:decreased expression: pituitary gland (rat) |
RGD |
PMID:26509893 PMID:28710248 |
RGD:11344152 RGD:401960105 |
NCBI chrNW_004936612:1,094,686...1,154,149
Ensembl chrNW_004936612:1,094,680...1,154,798
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Ehmt2 |
euchromatic histone lysine methyltransferase 2 |
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ISO |
mRNA:increased expression:pituitary gland (rat) |
RGD |
PMID:26509893 |
RGD:11344152 |
NCBI chrNW_004936727:1,648,451...1,663,294
Ensembl chrNW_004936727:1,648,448...1,663,455
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Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta3 |
sexual_dimorphism treatment |
ISO |
in male mice only; mRNA:increased expression:frontal cortex: |
RGD |
PMID:23763370 PMID:30312858 |
RGD:13432044 RGD:405866345 |
NCBI chrNW_004936471:39,791,633...40,193,049
Ensembl chrNW_004936471:39,791,613...40,187,923
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Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma2 |
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ISO |
mRNA:increased expression:posterior hypothalamic region (rat) |
RGD |
PMID:18514412 |
RGD:402528884 |
NCBI chrNW_004936515:1,609,370...1,670,412
Ensembl chrNW_004936515:1,607,722...1,671,336
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Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
treatment |
ISO |
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RGD |
PMID:22037411 PMID:23763370 |
RGD:13210751 RGD:13432044 |
NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664
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Hdac2 |
histone deacetylase 2 |
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ISO |
mRNA,protein:increased expression:pituitary gland (rat) |
RGD |
PMID:26509893 |
RGD:11344152 |
NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641
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Hdac4 |
histone deacetylase 4 |
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ISO |
mRNA,protein:increased expression:pituitary gland (rat) |
RGD |
PMID:26509893 |
RGD:11344152 |
NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074
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Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
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ISO |
protein:increased expression:placenta (rat) |
RGD |
PMID:26342748 |
RGD:401965481 |
NCBI chrNW_004936475:17,882,663...17,888,708
Ensembl chrNW_004936475:17,882,575...17,887,748
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Igf1 |
insulin like growth factor 1 |
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ISO |
mRNA:decreased expression:cerebellum (rat) |
RGD |
PMID:16909201 |
RGD:12904886 |
NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
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Igf1r |
insulin like growth factor 1 receptor |
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ISO |
protein:decreased activity:cerebellum (rat) |
RGD |
PMID:16909201 |
RGD:12904886 |
NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925
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Mat2a |
methionine adenosyltransferase 2A |
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ISO |
mRNA:decreased expression:brain (rat) |
RGD |
PMID:26180184 |
RGD:11074449 |
NCBI chrNW_004936712:1,710,513...1,717,339
Ensembl chrNW_004936712:1,709,716...1,717,499
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Mecp2 |
methyl-CpG binding protein 2 |
treatment |
ISO |
mRNA:increased expression:pituitary gland (rat) |
RGD |
PMID:23763370 PMID:26509893 |
RGD:11344152 RGD:13432044 |
NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839
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Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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ISO |
mRNA:decreased expression:brain (rat) |
RGD |
PMID:26180184 |
RGD:11074449 |
NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148
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Nos1 |
nitric oxide synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25511929 |
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NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414
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Nr3c2 |
nuclear receptor subfamily 3 group C member 2 |
sexual_dimorphism |
ISO |
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) |
RGD |
PMID:29251811 |
RGD:401965484 |
NCBI chrNW_004936535:1,139,687...1,467,469
Ensembl chrNW_004936535:1,140,178...1,467,471
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Oprk1 |
opioid receptor kappa 1 |
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ISO |
DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex |
RGD |
PMID:29678771 |
RGD:401851055 |
NCBI chrNW_004936496:280,593...305,900
Ensembl chrNW_004936496:280,558...305,904
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Oprl1 |
opioid related nociceptin receptor 1 |
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ISO |
mRNA:decreased expression:ventral tegmental area |
RGD |
PMID:29678771 |
RGD:401851055 |
NCBI chrNW_004936514:11,264,392...11,273,584
Ensembl chrNW_004936514:11,258,335...11,273,592
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Pdyn |
prodynorphin |
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ISO |
DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens |
RGD |
PMID:29678771 |
RGD:401851055 |
NCBI chrNW_004936485:16,559,371...16,571,461
Ensembl chrNW_004936485:16,559,217...16,571,678
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Per2 |
period circadian regulator 2 |
treatment |
ISO |
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RGD |
PMID:31329297 |
RGD:405878078 |
NCBI chrNW_004936525:221,601...263,284
Ensembl chrNW_004936525:221,510...263,295
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Pnoc |
prepronociceptin |
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ISO |
mRNA:increased expression:nucleus accumbens |
RGD |
PMID:29678771 |
RGD:401851055 |
NCBI chrNW_004936675:1,113,435...1,134,916
Ensembl chrNW_004936675:1,113,435...1,134,910
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Pomc |
proopiomelanocortin |
treatment |
ISO |
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RGD |
PMID:31329297 |
RGD:405878078 |
NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
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Prl |
prolactin |
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ISO |
mRNA, protein:increased expression:pituitary gland, blood plasma (rat) mRNA,protein:increased expression:pituitary gland, blood plasma (rat) |
RGD |
PMID:26509893 PMID:28710248 |
RGD:11344152 RGD:401960105 |
NCBI chrNW_004936552:7,204,298...7,212,632
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Pten |
phosphatase and tensin homolog |
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ISO |
Protein:increased expression, increased activity:cerebellum (rat) |
RGD |
PMID:12700235 |
RGD:12801493 |
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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Rasgrf1 |
Ras protein specific guanine nucleotide releasing factor 1 |
treatment |
ISO |
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RGD |
PMID:23763370 |
RGD:13432044 |
NCBI chrNW_004936471:37,173,595...37,278,356
Ensembl chrNW_004936471:37,171,297...37,278,529
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Rps6ka1 |
ribosomal protein S6 kinase A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29109170 |
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NCBI chrNW_004936474:10,996,867...11,030,504
Ensembl chrNW_004936474:10,996,813...11,030,557
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Setd7 |
SET domain containing 7, histone lysine methyltransferase |
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ISO |
mRNA:decreased expression:pituitary gland (rat) |
RGD |
PMID:26509893 |
RGD:11344152 |
NCBI chrNW_004936535:8,094,479...8,143,108
Ensembl chrNW_004936535:8,094,178...8,137,580
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Slc25a12 |
solute carrier family 25 member 12 |
treatment |
ISO |
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RGD |
PMID:23763370 |
RGD:13432044 |
NCBI chrNW_004936509:1,994,082...2,077,731
Ensembl chrNW_004936509:1,990,116...2,077,938
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Slc6a4 |
solute carrier family 6 member 4 |
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ISO |
mRNA:decreased expression:brain (rat) |
RGD |
PMID:26180184 |
RGD:11074449 |
NCBI chrNW_004936538:6,205,268...6,239,062
Ensembl chrNW_004936538:6,205,251...6,239,083
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Tlr4 |
toll like receptor 4 |
ameliorates |
ISO |
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RGD |
PMID:30312858 |
RGD:405866345 |
NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
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Ube3a |
ubiquitin protein ligase E3A |
treatment |
ISO |
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RGD |
PMID:23763370 |
RGD:13432044 |
NCBI chrNW_004936471:41,187,665...41,290,345
Ensembl chrNW_004936471:41,187,612...41,283,517
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Rhoa |
ras homolog family member A |
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ISO |
protein:increased activation:neuron, cerebellum |
RGD |
PMID:17109064 |
RGD:2298867 |
NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681
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Ahsp |
alpha hemoglobin stabilizing protein |
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ISO |
mRNA, protein:decreased expression:placenta (human) |
RGD |
PMID:18347943 |
RGD:329956422 |
NCBI chrNW_004936543:8,317,344...8,325,273
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Atr |
ATR serine/threonine kinase |
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ISO |
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RGD |
PMID:15282542 |
RGD:150340675 |
NCBI chrNW_004936540:4,074,543...4,178,859
Ensembl chrNW_004936540:4,074,570...4,178,898
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F5 |
coagulation factor V |
no_association |
ISO |
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RGD |
PMID:14706682 |
RGD:1580130 |
NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844
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Grhl3 |
grainyhead like transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6635991 |
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NCBI chrNW_004936474:9,321,754...9,354,486
Ensembl chrNW_004936474:9,332,444...9,353,893
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
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RGD |
PMID:20393889 |
RGD:12910472 |
NCBI chrNW_004936506:1,678,069...1,687,632
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LOC101968921 |
angiotensin-converting enzyme |
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ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:11085286 |
RGD:11038921 |
NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
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Lpar1 |
lysophosphatidic acid receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11087877 |
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NCBI chrNW_004936559:2,187,791...2,331,587
Ensembl chrNW_004936559:2,259,420...2,332,806
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Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29255069 |
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NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262
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Pdgfra |
platelet derived growth factor receptor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11023856 |
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NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587
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Rdh10 |
retinol dehydrogenase 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793605 |
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NCBI chrNW_004936648:2,060,131...2,088,021
Ensembl chrNW_004936648:2,060,125...2,088,833
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Tfpi |
tissue factor pathway inhibitor |
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ISO |
associated with Hemorrhage; |
RGD |
PMID:9242522 |
RGD:11060259 |
NCBI chrNW_004936506:10,103,120...10,172,800
Ensembl chrNW_004936506:10,103,139...10,171,863
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Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
associated with Endotoxemia; human protein in rat model |
RGD |
PMID:21187445 |
RGD:5131261 |
NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10195895 PMID:10195896 PMID:10346820 PMID:20961246 |
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NCBI chrNW_004936636:33,933...78,990
Ensembl chrNW_004936636:33,673...79,194
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:19283362 |
RGD:2313217 |
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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G |
Prkcb |
protein kinase C beta |
|
ISO |
associated with Diabetes Mellitus, Experimental;protein:increased expression |
RGD |
PMID:15496608 |
RGD:1625524 |
NCBI chrNW_004936501:8,410,273...8,729,238
Ensembl chrNW_004936501:8,437,715...8,728,716
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G |
Prss8 |
serine protease 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22705055 |
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NCBI chrNW_004936501:13,487,863...13,491,837
Ensembl chrNW_004936501:13,485,310...13,491,905
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
ClinVar Annotator: match by term: Cocoon syndrome |
OMIM ClinVar |
PMID:20961246 |
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NCBI chrNW_004936636:33,933...78,990
Ensembl chrNW_004936636:33,673...79,194
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G |
Abcb1 |
ATP binding cassette subfamily B member 1 |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:16225763 |
RGD:2306659 |
NCBI chrNW_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427
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G |
Acta2 |
actin alpha 2, smooth muscle |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
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NCBI chrNW_004936735:266,918...283,858
Ensembl chrNW_004936735:266,754...284,377
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
treatment |
ISO |
|
RGD |
PMID:23533720 |
RGD:8695947 |
NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
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Adipor1 |
adiponectin receptor 1 |
treatment |
ISO |
|
RGD |
PMID:23533720 |
RGD:8695947 |
NCBI chrNW_004936567:1,658,405...1,674,794
Ensembl chrNW_004936567:1,658,383...1,676,199
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G |
Adipor2 |
adiponectin receptor 2 |
treatment |
ISO |
|
RGD |
PMID:23533720 |
RGD:8695947 |
NCBI chrNW_004936606:1,911,104...2,007,109
Ensembl chrNW_004936606:1,948,743...2,007,163
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G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:kidney,urine: |
CTD RGD |
PMID:17537837 PMID:20530295 PMID:26270574 |
RGD:11538508 RGD:13432363 |
NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
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G |
Agtr1 |
angiotensin II receptor type 1 |
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ISO |
|
RGD |
PMID:21303825 |
RGD:5129179 |
NCBI chrNW_004936519:6,831,096...6,873,977
Ensembl chrNW_004936519:6,831,096...6,873,985
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G |
Agtr2 |
angiotensin II receptor type 2 |
|
ISO |
|
RGD |
PMID:21303825 |
RGD:5129179 |
NCBI chrNW_004936479:13,252,678...13,255,570
Ensembl chrNW_004936479:13,252,678...13,255,570
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G |
Anapc2 |
anaphase promoting complex subunit 2 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:25724728 |
RGD:14696679 |
NCBI chrNW_004936669:797,475...808,952
Ensembl chrNW_004936669:797,318...811,721
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G |
Apoe |
apolipoprotein E |
|
ISO |
mRNA:increased expression:adrenal gland (rat) |
RGD |
PMID:19923365 |
RGD:4891147 |
NCBI chrNW_004936706:1,512,438...1,516,805
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G |
Apoh |
apolipoprotein H |
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ISO |
|
RGD |
PMID:24642748 |
RGD:10054118 |
NCBI chrNW_004936541:6,683,483...6,695,094
Ensembl chrNW_004936541:6,683,534...6,695,066
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G |
Atp5f1a |
ATP synthase F1 subunit alpha |
|
ISO |
protein:increased expression:retroperitoneal fat pad (rat) |
RGD |
PMID:26633942 |
RGD:13703049 |
NCBI chrNW_004936517:743,036...752,836
Ensembl chrNW_004936517:742,791...753,336
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G |
Atp5f1b |
ATP synthase F1 subunit beta |
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ISO |
protein:decreased expression:liver (rat) |
RGD |
PMID:26342040 |
RGD:13782135 |
NCBI chrNW_004936646:951,236...958,907
Ensembl chrNW_004936646:951,009...959,516
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Bax |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:22932950 |
RGD:10054114 |
NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820
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Bcl2 |
BCL2 apoptosis regulator |
treatment |
ISO |
|
RGD |
PMID:22932950 |
RGD:10054114 |
NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
|
RGD |
PMID:22710965 |
RGD:9068402 |
NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
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G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
ISO |
protein:decreased expression:pancreas (rat) |
RGD |
PMID:20873977 |
RGD:152985538 |
NCBI chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758
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G |
Cacna1d |
calcium voltage-gated channel subunit alpha1 D |
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ISO |
protein:decreased expression:pancreas (rat) |
RGD |
PMID:20873977 |
RGD:152985538 |
NCBI chrNW_004936473:4,164,633...4,479,866
Ensembl chrNW_004936473:4,037,533...4,478,073
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
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RGD |
PMID:3973436 |
RGD:2303532 |
NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
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G |
Casp3 |
caspase 3 |
treatment |
ISO |
|
RGD |
PMID:22932950 |
RGD:10054114 |
NCBI chrNW_004936554:4,571,072...4,593,765
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G |
Col2a1 |
collagen type II alpha 1 chain |
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ISO |
mRNA:decreased expression:distal epiphyseal plate of femur (rat) |
RGD |
PMID:22995397 |
RGD:8661261 |
NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853
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G |
Comt |
catechol-O-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23667712 |
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NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
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ISO |
|
RGD |
PMID:3973436 |
RGD:2303532 |
NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
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G |
Cth |
cystathionine gamma-lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
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NCBI chrNW_004936591:1,619,446...1,643,667
Ensembl chrNW_004936591:1,619,446...1,643,665
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G |
Ddx23 |
DEAD-box helicase 23 |
|
ISO |
ClinVar Annotator: match by term: Intrauterine growth retardation |
ClinVar |
PMID:25741868 PMID:34050707 |
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NCBI chrNW_004936512:6,666,972...6,682,596
Ensembl chrNW_004936512:6,666,814...6,682,728
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G |
Des |
desmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
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NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27776119 |
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NCBI chrNW_004936604:4,504,519...4,511,897
Ensembl chrNW_004936604:4,504,503...4,511,910
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
mRNA,protein:decreased expression:hippocampus: mRNA:increased expression:adrenal gland: mRNA:decreased expression:kidney: |
RGD |
PMID:12869365 PMID:16380407 PMID:24717552 |
RGD:9588242 RGD:9588619 RGD:9590296 |
NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
|
ISO |
mRNA:increased expression:adrenal gland: |
RGD |
PMID:24717552 |
RGD:9590296 |
NCBI chrNW_004936485:19,547,836...19,570,716
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G |
Dusp1 |
dual specificity phosphatase 1 |
|
ISO |
|
RGD |
PMID:12487923 |
RGD:7771581 |
NCBI chrNW_004936609:2,688,170...2,691,057
Ensembl chrNW_004936609:2,688,181...2,690,408
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G |
Dusp5 |
dual specificity phosphatase 5 |
|
ISO |
|
RGD |
PMID:16940436 |
RGD:2317872 |
NCBI chrNW_004936486:1,351,077...1,361,002
Ensembl chrNW_004936486:1,347,885...1,359,903
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Intrauterine growth restriction |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825
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G |
Elk1 |
ETS transcription factor ELK1 |
|
ISO |
mRNA:decreased expression:placenta |
RGD |
PMID:20008130 |
RGD:7488901 |
NCBI chrNW_004936502:13,402,726...13,418,214
Ensembl chrNW_004936502:13,402,728...13,418,214
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G |
Esrrg |
estrogen related receptor gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35220427 |
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NCBI chrNW_004936628:1,635,161...2,058,198
Ensembl chrNW_004936628:1,830,881...2,058,269
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G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human) associated with protein:increased expression:serum: |
RGD |
PMID:15695771 PMID:16169656 |
RGD:12903973 RGD:12904025 |
NCBI chrNW_004936735:209,369...234,582
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G |
Faslg |
Fas ligand |
severity |
ISO |
protein:increased expression:amniotic fluid: associated with protein:increased expression:serum: |
RGD |
PMID:16169656 PMID:23582102 |
RGD:12903972 RGD:12904025 |
NCBI chrNW_004936481:14,789,547...14,795,780
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
treatment |
ISO |
|
RGD |
PMID:26322574 |
RGD:405650593 |
NCBI chrNW_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122
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G |
Fto |
FTO alpha-ketoglutarate dependent dioxygenase |
|
ISO |
mRNA:decreased expression:placenta mRNA:decreased expression:chorionic villus |
RGD |
PMID:25054679 |
RGD:329955538 |
NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588
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G |
G6pc1 |
glucose-6-phosphatase catalytic subunit 1 |
|
ISO |
mRNA, protein:decreased expression:liver (rat) mRNA:increased expression:liver |
RGD |
PMID:15448092 PMID:23744881 |
RGD:14695550 RGD:2315963 |
NCBI chrNW_004936490:17,605,865...17,614,754
Ensembl chrNW_004936490:17,605,865...17,615,145
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G |
Gdnf |
glial cell derived neurotrophic factor |
|
ISO |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:25986755 |
RGD:405866360 |
NCBI chrNW_004936518:4,291,391...4,310,752
Ensembl chrNW_004936518:4,288,154...4,310,753
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G |
Ghrl |
ghrelin and obestatin prepropeptide |
disease_progression |
ISO |
|
RGD |
PMID:20637157 |
RGD:12904883 |
NCBI chrNW_004936602:3,037,862...3,044,863
Ensembl chrNW_004936602:3,038,549...3,042,506
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G |
Ghsr |
growth hormone secretagogue receptor |
disease_progression |
ISO |
|
RGD |
PMID:20637157 |
RGD:12904883 |
NCBI chrNW_004936593:268,736...273,623
Ensembl chrNW_004936593:268,350...277,229
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G |
Glud1 |
glutamate dehydrogenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19500843 |
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NCBI chrNW_004936601:5,415,857...5,435,964
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G |
Gria1 |
glutamate ionotropic receptor AMPA type subunit 1 |
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ISO |
protein:decreased expression:cerebral cortical neuron (rat) |
RGD |
PMID:20398734 |
RGD:4107070 |
NCBI chrNW_004936515:8,937,391...9,236,438
Ensembl chrNW_004936515:8,940,009...9,083,151
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
protein:decreased expression:cerebral cortical neuron (rat) |
RGD |
PMID:20398734 |
RGD:4107070 |
NCBI chrNW_004936530:8,286,101...8,612,183
Ensembl chrNW_004936530:8,287,574...8,608,343
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
treatment |
ISO |
|
RGD |
PMID:20423831 |
RGD:13210763 |
NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664
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G |
Hadha |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
|
ISO |
mRNA:decreased expression |
RGD |
PMID:11124150 |
RGD:1599884 |
NCBI chrNW_004936493:6,182,786...6,224,601
Ensembl chrNW_004936493:6,182,261...6,224,693
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G |
Hdac1 |
histone deacetylase 1 |
|
ISO |
protein:decreased expression, decreased activity:hippocampus: mRNA:increased expression:adrenal gland: |
RGD |
PMID:16380407 PMID:18464933 PMID:24717552 |
RGD:2311214 RGD:9588242 RGD:9590296 |
NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860
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G |
Hdac2 |
histone deacetylase 2 |
|
ISO |
mRNA:increased expression:adrenal gland: |
RGD |
PMID:24717552 |
RGD:9590296 |
NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641
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G |
Hnf4a |
hepatocyte nuclear factor 4 alpha |
|
ISO |
DNA:altered methylation:prompter: |
RGD |
PMID:20126273 |
RGD:12904699 |
NCBI chrNW_004936530:2,401,053...2,425,989
Ensembl chrNW_004936530:2,401,043...2,454,466
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
ISO |
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17272666 |
RGD:2308941 |
NCBI chrNW_004936475:17,882,663...17,888,708
Ensembl chrNW_004936475:17,882,575...17,887,748
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G |
Igf1 |
insulin like growth factor 1 |
treatment onset |
ISO |
human protein in a rat model protein:decreased expression:placenta labyrinth (rat) mRNA:decreased expression:liver |
RGD |
PMID:9284279 PMID:15506645 PMID:19088829 PMID:24239160 |
RGD:12904720 RGD:12910460 RGD:1600258 RGD:2306715 |
NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
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G |
Igf1r |
insulin like growth factor 1 receptor |
onset |
ISO |
DNA:point mutation:exon:p.R108Q, p.K115N (human) protein:increased expression:liver, lung (rat) protein:decreased expression:placenta labyrinth (rat) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:12536576 PMID:14657428 PMID:24239160 |
RGD:12904720 RGD:12904724 RGD:1624299 |
NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925
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G |
Igf2 |
insulin like growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA:altered expresssion:liver,placenta: |
CTD RGD |
PMID:1408464 PMID:12087403 PMID:16040806 |
RGD:14985247 |
NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
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G |
Igf2r |
insulin like growth factor 2 receptor |
|
ISO |
mRNA:increased expresssion:fetus: |
RGD |
PMID:1408464 |
RGD:14985247 |
NCBI chrNW_004936489:11,447,043...11,523,695
Ensembl chrNW_004936489:11,447,038...11,524,174
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G |
Igfbp3 |
insulin like growth factor binding protein 3 |
treatment |
ISO |
protein:decreased expression:serum: protein:increased expression:brain protein:increased expression:Amniotic fluid: DNA:hypermethylation:promoter: mRNA:increased expression:placenta: |
RGD |
PMID:15506645 PMID:16923367 PMID:19217707 PMID:19591553 PMID:21823995 PMID:21924014 More...
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RGD:10402581 RGD:12743583 RGD:12743585 RGD:12743590 RGD:12743599 RGD:1600258 |
NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:11005132 |
RGD:2311066 |
NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315
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G |
Irs1 |
insulin receptor substrate 1 |
|
ISO |
mRNA,protein:decreased expression:growth plate: |
RGD |
PMID:22995397 |
RGD:8661261 |
NCBI chrNW_004936525:9,064,442...9,125,972
Ensembl chrNW_004936525:9,064,466...9,122,635
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G |
Irs2 |
insulin receptor substrate 2 |
|
ISO |
|
RGD |
PMID:20720385 |
RGD:7257699 |
NCBI chrNW_004936472:2,772,187...2,796,398
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G |
Lep |
leptin |
|
ISO |
|
RGD |
PMID:21353474 |
RGD:5128507 |
NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334
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G |
LOC101968921 |
angiotensin-converting enzyme |
|
ISO |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:24847689 |
RGD:12879387 |
NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
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|
G |
LOC101969148 |
cytochrome P450 1A1 |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:16225763 PMID:17706398 PMID:18442069 |
RGD:11576311 RGD:11576317 RGD:2306659 |
NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332
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G |
LOC101975532 |
delta-1-pyrroline-5-carboxylate synthase |
|
ISO |
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) |
RGD |
PMID:26320891 |
RGD:13434923 |
NCBI chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073
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G |
LOC101975820 |
cholesterol side-chain cleavage enzyme, mitochondrial |
|
ISO |
mRNA:increased expression:adrenal gland, maternal (rat) |
RGD |
PMID:17881205 |
RGD:4832477 |
NCBI chrNW_004936471:33,367,810...33,380,764
Ensembl chrNW_004936471:33,367,810...33,380,764
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Mdm2 |
MDM2 proto-oncogene |
|
ISO |
mRNA:decreased expression:cerebrum (rat) |
RGD |
PMID:15563574 |
RGD:2317395 |
NCBI chrNW_004936545:6,709,903...6,732,334
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Mecp2 |
methyl-CpG binding protein 2 |
|
ISO |
mRNA,protein:decreased expression:hippocampus: |
RGD |
PMID:16380407 |
RGD:9588242 |
NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-1306C>T (human) |
CTD RGD |
PMID:17367869 PMID:28157488 |
RGD:13204803 |
NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
susceptibility |
ISO |
DNA:SNP: :401A>G(human) DNA:SNP:cds:1958G>A(human) |
RGD |
PMID:18771981 PMID:22378735 PMID:25118499 |
RGD:12910955 RGD:12910958 RGD:12914148 |
NCBI chrNW_004936495:8,100,977...8,170,244
Ensembl chrNW_004936495:8,100,912...8,171,800
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Muc1 |
mucin 1, cell surface associated |
|
ISO |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chrNW_004936580:4,691,870...4,694,092
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chrNW_004936816:60,499...91,628
Ensembl chrNW_004936816:60,499...91,628
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Muc4 |
mucin 4, cell surface associated |
|
ISO |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chrNW_004936784:515,608...539,915
|
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO |
protein:decreased expression:placenta |
RGD |
PMID:23910525 PMID:25171874 |
RGD:10412716 RGD:26884462 |
NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262
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G |
Nos1 |
nitric oxide synthase 1 |
|
ISO |
associated with hyperinsulinemia; protein:decreased expression:placenta |
RGD |
PMID:19709742 |
RGD:5132592 |
NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
associated with hyperinsulinemia; protein:increased expression:placenta |
RGD |
PMID:19709742 |
RGD:5132592 |
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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Nos3 |
nitric oxide synthase 3 |
|
ISO |
RNA, protein:increased expression:thoracic aorta: associated with hyperinsulinemia; protein:decreased expression:placenta CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:19709742 PMID:22421449 PMID:23667712 PMID:29741931 |
RGD:13792602 RGD:5132592 |
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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Nr3c1 |
nuclear receptor subfamily 3 group C member 1 |
|
ISO |
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17272666 PMID:20388836 |
RGD:2308941 RGD:4892120 |
NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856
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Orc1 |
origin recognition complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21358633 |
|
NCBI chrNW_004936522:8,580,661...8,610,750
Ensembl chrNW_004936522:8,586,591...8,610,747
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G |
Otc |
ornithine transcarbamylase |
|
ISO |
mRNA:altered expression:liver (rat) |
RGD |
PMID:8929856 |
RGD:4144077 |
NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
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G |
Pck1 |
phosphoenolpyruvate carboxykinase 1 |
|
ISO |
mRNA:decreased expression:liver: |
RGD |
PMID:12538794 |
RGD:10448276 |
NCBI chrNW_004936530:361,872...367,005
Ensembl chrNW_004936530:361,872...367,005
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G |
Pdgfa |
platelet derived growth factor subunit A |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:11005132 |
RGD:2311066 |
NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:11005132 |
RGD:2311066 |
NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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G |
Pdx1 |
pancreatic and duodenal homeobox 1 |
|
ISO |
mRNA:decreased expression:pancreas (rat) mRNA:decreased expression:pancreatic islet |
RGD |
PMID:12606515 PMID:18464933 |
RGD:2311214 RGD:2311220 |
NCBI chrNW_004936472:23,102,534...23,107,127
Ensembl chrNW_004936472:23,102,534...23,107,127
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G |
Pomc |
proopiomelanocortin |
|
ISO |
mRNA, protein:decreased expression:hypothalamus |
RGD |
PMID:19390493 |
RGD:407580521 |
NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
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G |
Pparg |
peroxisome proliferator activated receptor gamma |
|
ISO |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:21425435 |
RGD:8552971 |
NCBI chrNW_004936602:1,230,907...1,368,588
Ensembl chrNW_004936602:1,230,907...1,304,743
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
mRNA, protein:increased expression:liver (rat) |
RGD |
PMID:18433551 |
RGD:10059649 |
NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226
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G |
Prdx6 |
peroxiredoxin 6 |
|
ISO |
protein:decreased expression:placenta |
RGD |
PMID:25171874 |
RGD:26884462 |
NCBI chrNW_004936481:14,223,422...14,233,634
Ensembl chrNW_004936481:14,222,696...14,233,641
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G |
Ptger3 |
prostaglandin E receptor 3 |
|
ISO |
mRNA, protein:increased expression:placenta (rat) |
RGD |
PMID:15990166 |
RGD:10043194 |
NCBI chrNW_004936591:1,174,364...1,250,233
Ensembl chrNW_004936591:1,174,069...1,249,410
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17272666 |
RGD:2308941 |
NCBI chrNW_004936481:3,821,564...3,828,086
|
|
G |
Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
treatment |
ISO |
with postnatal growth restriction |
RGD |
PMID:19491300 |
RGD:12743586 |
NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
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G |
Rbp1 |
retinol binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
|
NCBI chrNW_004936540:1,600,673...1,626,573
Ensembl chrNW_004936540:1,600,398...1,626,652
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G |
Ren |
renin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17537837 |
|
NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497
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G |
Samd9 |
sterile alpha motif domain containing 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27182967 |
|
NCBI chrNW_004936803:765,839...782,176
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G |
Serpine1 |
serpin family E member 1 |
|
ISO |
associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: |
RGD |
PMID:8018914 |
RGD:13208595 |
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
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G |
Sin3a |
SIN3 transcription regulator family member A |
|
ISO |
|
RGD |
PMID:18464933 |
RGD:2311214 |
NCBI chrNW_004936471:34,206,084...34,260,538
Ensembl chrNW_004936471:34,204,524...34,260,564
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G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
protein:increased expression:placenta mRNA, protein:increased expression:liver |
RGD |
PMID:9886959 PMID:11738800 |
RGD:12879480 RGD:730192 |
NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713
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G |
Slc2a2 |
solute carrier family 2 member 2 |
|
ISO |
mRNA, protein:decreased expression:liver |
RGD |
PMID:9886959 |
RGD:12879480 |
NCBI chrNW_004936593:1,572,661...1,605,071
Ensembl chrNW_004936593:1,572,672...1,604,947
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G |
Slc38a2 |
solute carrier family 38 member 2 |
|
ISO |
mRNA, protein:decreased expression:placenta |
RGD |
PMID:21812961 |
RGD:9999212 |
NCBI chrNW_004936512:4,543,845...4,557,118
Ensembl chrNW_004936512:4,543,820...4,557,142
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21893188 |
|
NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
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G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
ISO |
|
RGD |
PMID:19017816 |
RGD:2308805 |
NCBI chrNW_004936741:1,408,669...1,419,717
Ensembl chrNW_004936741:1,406,521...1,419,776
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G |
Star |
steroidogenic acute regulatory protein |
|
ISO |
mRNA:increased expression:adrenal gland, maternal (rat) |
RGD |
PMID:17881205 |
RGD:4832477 |
NCBI chrNW_004936710:1,523,289...1,530,181
Ensembl chrNW_004936710:1,523,355...1,529,672
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G |
Unc13a |
unc-13 homolog A |
|
ISO |
|
RGD |
PMID:18787382 |
RGD:5686390 |
NCBI chrNW_004936596:3,311,358...3,370,833
Ensembl chrNW_004936596:3,312,788...3,368,916
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G |
Vdr |
vitamin D receptor |
|
ISO |
mRNA,protein:decreased expression:placenta: |
RGD |
PMID:25716068 |
RGD:11058690 |
NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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G |
Xdh |
xanthine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Intrauterine growth restriction |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238
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G |
Crh |
corticotropin releasing hormone |
|
ISO |
protein:increased expression:paraventricular nucleus of hypothalamus (rat) |
RGD |
PMID:19409200 |
RGD:5491006 |
NCBI chrNW_004936496:7,759,656...7,761,555
Ensembl chrNW_004936496:7,760,532...7,761,122
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|
G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
ISO |
protein:increased expression:paraventricular nucleus of hypothalamus (rat) |
RGD |
PMID:19409200 |
RGD:5491006 |
NCBI chrNW_004936541:2,288,847...2,333,129
Ensembl chrNW_004936541:2,288,841...2,331,689
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
|
ISO |
protein:decreased expression:paraventricular nucleus of hypothalamus (rat) |
RGD |
PMID:19409200 |
RGD:5491006 |
NCBI chrNW_004936478:6,901,098...6,947,719
Ensembl chrNW_004936478:6,899,017...6,947,790
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G |
Egr1 |
early growth response 1 |
|
ISO |
|
RGD |
PMID:23427086 |
RGD:10395301 |
NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:altered expression:heart (rat) |
RGD |
PMID:21856922 |
RGD:7207283 |
NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857
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G |
Mmp13 |
matrix metallopeptidase 13 |
|
ISO |
protein:increased expression:heart (rat) |
RGD |
PMID:21856922 |
RGD:7207283 |
NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384
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G |
Nos1 |
nitric oxide synthase 1 |
|
ISO |
|
RGD |
PMID:17310378 |
RGD:1642145 |
NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414
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G |
Il6 |
interleukin 6 |
|
ISO |
associated with Premature Birth; |
RGD |
PMID:24832219 |
RGD:12801490 |
NCBI chrNW_004936549:7,015,595...7,016,246
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G |
Hnf4a |
hepatocyte nuclear factor 4 alpha |
|
ISO |
DNA:mutations: : |
RGD |
PMID:17407387 PMID:19435144 |
RGD:12904698 RGD:12904767 |
NCBI chrNW_004936530:2,401,053...2,425,989
Ensembl chrNW_004936530:2,401,043...2,454,466
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G |
Igf1 |
insulin like growth factor 1 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:17113804 |
RGD:12743591 |
NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
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G |
Igfbp3 |
insulin like growth factor binding protein 3 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:17113804 |
RGD:12743591 |
NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306
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G |
Lipc |
lipase C, hepatic type |
|
ISO |
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) |
RGD |
PMID:10600655 |
RGD:2308786 |
NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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G |
Col1a2 |
collagen type I alpha 2 chain |
|
ISO |
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chrNW_004936585:5,650,322...5,686,393
Ensembl chrNW_004936585:5,651,180...5,685,923
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Maoa |
monoamine oxidase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22340208 |
|
NCBI chrNW_004936502:9,816,443...9,888,002
Ensembl chrNW_004936502:9,815,319...9,888,026
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G |
Nphs1 |
NPHS1 adhesion molecule, nephrin |
|
ISO |
associated with maternal low protein diet; protein:decreased expression:kidney (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chrNW_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874
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G |
Nphs2 |
NPHS2 stomatin family member, podocin |
|
ISO |
associated with maternal low protein diet; protein:decreased expression:kidney (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534
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G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
|
ISO |
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267
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Apoh |
apolipoprotein H |
|
ISO |
|
RGD |
PMID:24642748 |
RGD:10054118 |
NCBI chrNW_004936541:6,683,483...6,695,094
Ensembl chrNW_004936541:6,683,534...6,695,066
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G |
Prl |
prolactin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:3816235 |
|
NCBI chrNW_004936552:7,204,298...7,212,632
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G |
Prl |
prolactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20083845 |
|
NCBI chrNW_004936552:7,204,298...7,212,632
|
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
treatment |
ISO |
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15126557 PMID:19626510 PMID:23608331 |
RGD:2313236 RGD:8695950 |
NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
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Ahsg |
alpha 2-HS glycoprotein |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12153747 |
RGD:2313814 |
NCBI chrNW_004936578:3,332,934...3,339,903
Ensembl chrNW_004936578:3,332,934...3,339,903
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|
G |
Angptl6 |
angiopoietin like 6 |
|
ISO |
protein:increased expression:blood serum,umbilical artery (human) |
RGD |
PMID:35876300 |
RGD:329845845 |
NCBI chrNW_004936659:491,330...499,409
Ensembl chrNW_004936659:487,983...499,448
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Apod |
apolipoprotein D |
|
ISO |
|
RGD |
PMID:6828336 |
RGD:2311180 |
NCBI chrNW_004936833:260,798...277,060
Ensembl chrNW_004936833:259,660...277,246
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|
G |
Ar |
androgen receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
|
NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932
|
|
G |
Atp2b1 |
ATPase plasma membrane Ca2+ transporting 1 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936507:6,525,302...6,631,003
Ensembl chrNW_004936507:6,523,199...6,630,606
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G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936602:2,744,757...3,011,051
Ensembl chrNW_004936602:2,744,759...3,007,940
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524
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G |
Atp2b4 |
ATPase plasma membrane Ca2+ transporting 4 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936567:944,825...1,039,920
Ensembl chrNW_004936567:950,797...993,245
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G |
Bnip3l |
BCL2 interacting protein 3 like |
|
ISO |
|
RGD |
PMID:26512955 |
RGD:11564338 |
NCBI chrNW_004936757:499,485...523,494
Ensembl chrNW_004936757:499,147...523,541
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G |
Calb1 |
calbindin 1 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936544:3,858,344...3,881,985
Ensembl chrNW_004936544:3,858,344...3,882,106
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G |
Ccn2 |
cellular communication network factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34175429 |
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NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
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G |
Cdkal1 |
CDK5 regulatory subunit associated protein 1 like 1 |
|
ISO |
DNA:snp: :rs7756992,rs7754840(human) |
RGD |
PMID:19002430 |
RGD:2313946 |
NCBI chrNW_004936552:5,903,042...6,347,498
Ensembl chrNW_004936552:5,833,409...6,347,017
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G |
CUNH12orf43 |
chromosome unknown C12orf43 homolog |
|
ISO |
ClinVar Annotator: match by term: Gestational diabetes |
ClinVar |
PMID:9562352 PMID:25741868 PMID:35299962 |
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NCBI chrNW_004936668:51,572...61,873
Ensembl chrNW_004936668:51,531...61,403
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G |
Dcn |
decorin |
|
ISO |
|
RGD |
PMID:16630654 |
RGD:2311413 |
NCBI chrNW_004936507:7,887,259...7,923,055
Ensembl chrNW_004936507:7,884,654...7,922,961
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G |
Dnah8 |
dynein axonemal heavy chain 8 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936476:20,592,440...20,888,692
Ensembl chrNW_004936476:20,592,440...20,888,779
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G |
Foxm1 |
forkhead box M1 |
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ISO |
|
RGD |
PMID:19833884 |
RGD:2315927 |
NCBI chrNW_004936606:3,185,289...3,198,427
Ensembl chrNW_004936606:3,185,982...3,198,378
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G |
G6pc1 |
glucose-6-phosphatase catalytic subunit 1 |
|
ISO |
protein:increased activity:liver |
RGD |
PMID:12595588 |
RGD:2315965 |
NCBI chrNW_004936490:17,605,865...17,614,754
Ensembl chrNW_004936490:17,605,865...17,615,145
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G |
Gad2 |
glutamate decarboxylase 2 |
|
ISO |
|
RGD |
PMID:18588707 |
RGD:2313295 |
NCBI chrNW_004936484:1,737,806...1,810,378
Ensembl chrNW_004936484:1,737,520...1,810,398
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G |
Gck |
glucokinase |
|
ISO |
ClinVar Annotator: match by term: Gestational diabetes |
ClinVar |
PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 PMID:10525657 PMID:10754480 PMID:11508276 PMID:12442280 PMID:14517946 PMID:14517956 PMID:15102714 PMID:15305805 PMID:15928245 PMID:16173921 PMID:16731834 PMID:17186219 PMID:17389332 PMID:17937063 PMID:18056790 PMID:18414213 PMID:19790256 PMID:20337973 PMID:21395678 PMID:21831042 PMID:21921030 PMID:21978167 PMID:22028181 PMID:22065275 PMID:22493702 PMID:22820548 PMID:23771172 PMID:24033266 PMID:24568320 PMID:24578721 PMID:24735133 PMID:25082184 PMID:25306193 PMID:25494859 PMID:25555642 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29056535 PMID:29510678 PMID:29777474 PMID:30191644 PMID:31216263 PMID:31595705 PMID:31968686 PMID:32074423 PMID:32086287 PMID:34406393 PMID:34496959 PMID:35737141 PMID:36257325 PMID:36504295 More...
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NCBI chrNW_004936478:19,104,477...19,118,915
Ensembl chrNW_004936478:19,105,361...19,158,733
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
|
ISO |
protein:increased activity:blood |
RGD |
PMID:18937705 |
RGD:2315598 |
NCBI chrNW_004936619:762,278...791,610
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G |
Gpx1 |
glutathione peroxidase 1 |
|
ISO |
|
RGD |
PMID:22342560 |
RGD:11353780 |
NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
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G |
Hnf1a |
HNF1 homeobox A |
|
ISO |
ClinVar Annotator: match by term: Gestational diabetes |
ClinVar |
PMID:9562352 PMID:25741868 PMID:35299962 |
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NCBI chrNW_004936668:62,103...81,549
Ensembl chrNW_004936668:67,535...81,505
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
protein:increased expression:decidua, endothelial cell protein:decreased expression:placenta |
RGD |
PMID:17990298 PMID:19343356 |
RGD:2313469 RGD:2313476 |
NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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G |
Igf1r |
insulin like growth factor 1 receptor |
|
ISO |
|
RGD |
PMID:22241286 |
RGD:10046048 |
NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925
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G |
Il10 |
interleukin 10 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:18446686 |
RGD:2308947 |
NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:extracellular space (human) |
RGD |
PMID:19408175 |
RGD:2307186 |
NCBI chrNW_004936549:7,015,595...7,016,246
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G |
Inhba |
inhibin subunit beta A |
|
ISO |
protein:increased expression:serum protein:decreased expression:serum |
RGD |
PMID:7852520 PMID:14663836 |
RGD:2313385 RGD:2313391 |
NCBI chrNW_004936478:16,878,725...16,884,065
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G |
Ins |
insulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:19269197 |
RGD:2311131 |
NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357
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G |
Insr |
insulin receptor |
|
ISO |
mRNA, protein:increased expression:placenta (human) |
RGD |
PMID:19179458 PMID:22241286 |
RGD:10046048 RGD:2307336 |
NCBI chrNW_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor type 1 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936577:3,896,455...4,198,396
Ensembl chrNW_004936577:3,896,390...4,198,411
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G |
Itpr2 |
inositol 1,4,5-trisphosphate receptor type 2 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936548:646,019...1,120,426
Ensembl chrNW_004936548:645,925...1,121,888
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G |
Itpr3 |
inositol 1,4,5-trisphosphate receptor type 3 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936476:25,254,937...25,318,316
Ensembl chrNW_004936476:25,254,932...25,318,491
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G |
Lep |
leptin |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum |
CTD RGD |
PMID:19269197 PMID:20421132 |
RGD:2311131 |
NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334
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G |
Lepr |
leptin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
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NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444
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G |
LOC101954950 |
aromatase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
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NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910
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G |
LOC101957714 |
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial |
|
ISO |
mRNA:increased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
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G |
LOC101969021 |
somatotropin |
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ISO |
protein:increased expression: |
RGD |
PMID:3519044 |
RGD:2315681 |
NCBI chrNW_004936541:4,524,397...4,528,234
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G |
LOC101972957 |
vitamin D 25-hydroxylase |
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ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936528:3,881,630...3,897,613
Ensembl chrNW_004936528:3,881,087...3,900,302
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G |
LOC101978323 |
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial |
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ISO |
mRNA:increased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
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G |
Men1 |
menin 1 |
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ISO |
|
RGD |
PMID:17975067 |
RGD:2317319 |
NCBI chrNW_004936599:4,504,489...4,510,085
Ensembl chrNW_004936599:4,504,397...4,510,555
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
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MouseDO |
|
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NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
mRNA:increased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
|
RGD |
PMID:17259140 |
RGD:2311668 |
NCBI chrNW_004936785:476,200...503,371
Ensembl chrNW_004936785:476,078...503,321
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G |
Rbp4 |
retinol binding protein 4 |
|
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:35876300 |
RGD:329845845 |
NCBI chrNW_004936601:1,401,215...1,410,195
Ensembl chrNW_004936601:1,402,691...1,410,208
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G |
Retn |
resistin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:19408175 |
RGD:2307186 |
NCBI chrNW_004936588:4,705,295...4,706,653
Ensembl chrNW_004936588:4,705,119...4,706,656
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289
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G |
Ryr2 |
ryanodine receptor 2 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441
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G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066
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G |
S100g |
S100 calcium binding protein G |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936470:5,931,158...5,934,986
Ensembl chrNW_004936470:5,930,140...5,935,000
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G |
Sirt3 |
sirtuin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23956348 |
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NCBI chrNW_004936888:63,131...78,536
Ensembl chrNW_004936888:63,546...77,950
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23956348 PMID:30738174 PMID:34175429 |
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NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
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G |
Srrm1 |
serine and arginine repetitive matrix 1 |
|
ISO |
protein:increased glycation:placenta (human) |
RGD |
PMID:24308201 |
RGD:11038724 |
NCBI chrNW_004936474:9,573,015...9,602,229
Ensembl chrNW_004936474:9,572,974...9,602,229
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G |
Tcf7l2 |
transcription factor 7 like 2 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18984664 |
RGD:2312455 |
NCBI chrNW_004936486:3,473,877...3,660,565
Ensembl chrNW_004936486:3,473,843...3,660,576
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G |
Trpv5 |
transient receptor potential cation channel subfamily V member 5 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936527:375,922...399,446
Ensembl chrNW_004936527:375,925...399,446
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G |
Trpv6 |
transient receptor potential cation channel subfamily V member 6 |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936527:345,237...359,877
Ensembl chrNW_004936527:345,626...359,942
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G |
Uts2 |
urotensin 2 |
susceptibility |
ISO |
DNA:polymorphism |
RGD |
PMID:17327028 |
RGD:2306802 |
NCBI chrNW_004936623:2,339,259...2,345,717
Ensembl chrNW_004936623:2,340,778...2,345,700
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G |
Vdr |
vitamin D receptor |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:36477942 |
RGD:401901174 |
NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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G |
Pou5f1 |
POU class 5 homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18440631 |
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NCBI chrNW_004936837:827,568...838,933
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G |
LOC101961358 |
mitochondrial chaperone BCS1 |
|
ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:32313153 PMID:32552793 PMID:33511646 PMID:34645488 PMID:34662929 More...
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NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708
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G |
Lbr |
lamin B receptor |
|
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_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785
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G |
Anxa5 |
annexin A5 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chrNW_004936662:926,302...959,964
Ensembl chrNW_004936662:925,940...939,451
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G |
Apoe |
apolipoprotein E |
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ISO |
|
RGD |
PMID:19086990 |
RGD:11039490 |
NCBI chrNW_004936706:1,512,438...1,516,805
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G |
Asic5 |
acid sensing ion channel subunit family member 5 |
|
ISO |
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 |
ClinVar |
|
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NCBI chrNW_004936576:2,483,715...2,510,037
Ensembl chrNW_004936576:2,483,324...2,507,473
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G |
Cbx3 |
chromobox 3 |
|
ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
|
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NCBI chrNW_004936478:2,981,218...2,989,329
Ensembl chrNW_004936478:2,981,228...2,989,324
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G |
Ccdc68 |
coiled-coil domain containing 68 |
|
ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
|
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NCBI chrNW_004936497:8,990,841...9,035,498
Ensembl chrNW_004936497:9,005,157...9,034,486
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G |
Ccnb3 |
cyclin B3 |
|
ISO |
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 |
ClinVar |
|
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NCBI chrNW_004936721:1,729,979...1,782,399
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G |
Cdk2 |
cyclin dependent kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chrNW_004936646:379,849...385,648
Ensembl chrNW_004936646:379,842...385,877
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G |
Cdkn1a |
cyclin dependent kinase inhibitor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
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G |
Cenph |
centromere protein H |
|
ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
|
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NCBI chrNW_004936480:379,172...396,167
Ensembl chrNW_004936480:379,183...396,167
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G |
Creb5 |
cAMP responsive element binding protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30100398 |
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NCBI chrNW_004936478:5,184,157...5,319,176
Ensembl chrNW_004936478:4,924,489...5,319,844
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G |
F2 |
coagulation factor II, thrombin |
|
ISO |
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 |
ClinVar OMIM |
PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:15059842 PMID:15534175 PMID:16493002 PMID:16606808 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 PMID:28707429 PMID:30297698 PMID:34110897 PMID:34355501 More...
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NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650
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G |
F5 |
coagulation factor V |
susceptibility |
ISO |
ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 |
ClinVar OMIM |
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 PMID:7968118 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9459326 PMID:9518910 PMID:9734642 PMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:11018168 PMID:11110695 PMID:11686338 PMID:12069454 PMID:12070000 PMID:12421138 PMID:14996674 PMID:15208046 PMID:15534175 PMID:15638861 PMID:15946211 PMID:16493002 PMID:16769590 PMID:16931580 PMID:17145618 PMID:19652888 PMID:20051284 PMID:21116184 PMID:21774968 PMID:22704462 PMID:22992668 PMID:23382263 PMID:23677252 PMID:23900608 PMID:24033266 PMID:25741868 PMID:25977387 PMID:26251307 PMID:26990548 PMID:27797270 PMID:28492532 PMID:28750087 PMID:30924984 PMID:34355501 More...
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NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844
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Foxo3 |
forkhead box O3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837
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Kcnq1 |
potassium voltage-gated channel subfamily Q member 1 |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 |
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NCBI chrNW_004936794:707,122...994,206
Ensembl chrNW_004936794:707,119...994,778
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Mthfr |
methylenetetrahydrofolate reductase |
no_association |
ISO |
DNA:SNPs: :677C>T, 1298A>C (human) DNA:SNP: :1298A>C (human) |
RGD |
PMID:19906129 PMID:22047507 PMID:22882325 |
RGD:10449404 RGD:10449411 RGD:10449415 |
NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
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Pif1 |
PIF1 5'-to-3' DNA helicase |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936471:25,165,850...25,173,503
Ensembl chrNW_004936471:25,166,325...25,173,535
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Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 |
ClinVar |
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NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
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Plk1 |
polo like kinase 1 |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chrNW_004936501:8,321,415...8,332,414
Ensembl chrNW_004936501:8,321,305...8,332,424
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Rexo4 |
REX4 homolog, 3'-5' exonuclease |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936669:3,479,778...3,504,938
Ensembl chrNW_004936669:3,481,294...3,491,572
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G |
Sycp3 |
synaptonemal complex protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19110213 |
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NCBI chrNW_004936492:12,316,868...12,326,778
Ensembl chrNW_004936492:12,316,869...12,330,251
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Thbd |
thrombomodulin |
susceptibility |
ISO |
DNA:SNP: :1418C>T (human) |
RGD |
PMID:23954867 |
RGD:11038683 |
NCBI chrNW_004936620:2,563,900...2,568,117
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Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif 13 |
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ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:12969811 |
RGD:10449045 |
NCBI chrNW_004936669:3,449,259...3,478,471
Ensembl chrNW_004936669:3,456,494...3,478,512
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Ahsp |
alpha hemoglobin stabilizing protein |
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ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:18347943 |
RGD:329956422 |
NCBI chrNW_004936543:8,317,344...8,325,273
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Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:blood platelet (human) |
RGD |
PMID:23241952 |
RGD:11522719 |
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
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RGD |
PMID:9158311 |
RGD:1580990 |
NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956
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Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
DNA:SNP:promoter:-670A>G(rs1800682)(human) protein,mRNA:altered expression:placenta, liver: |
RGD |
PMID:28501275 PMID:30066360 |
RGD:14700669 RGD:14700673 |
NCBI chrNW_004936735:209,369...234,582
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Faslg |
Fas ligand |
susceptibility |
ISO |
DNA:SNP:intron:124A>G(rs5030772)(human) protein:altered expression:blood, placenta, liver: |
RGD |
PMID:28501275 PMID:30066360 |
RGD:14700669 RGD:14700673 |
NCBI chrNW_004936481:14,789,547...14,795,780
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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_004936474:24,149,628...24,161,492
Ensembl chrNW_004936474:24,149,583...24,161,463
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Fcgr2a |
Fc fragment of IgG receptor IIa |
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ISO |
DNA:polymorphism: : |
RGD |
PMID:19129718 |
RGD:11100009 |
NCBI chrNW_004937131:15,542...22,099
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Kel |
Kell metallo-endopeptidase (Kell blood group) |
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ISO |
ClinVar Annotator: match by term: KELL K/k BLOOD GROUP POLYMORPHISM |
ClinVar |
PMID:7849312 PMID:8652402 PMID:25741868 |
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NCBI chrNW_004936527:406,061...431,142
Ensembl chrNW_004936527:406,132...427,186
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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_004936517:1,015,069...1,039,474
Ensembl chrNW_004936517:1,015,036...1,039,529
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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_004936476:15,849,054...15,862,486
Ensembl chrNW_004936476:15,846,606...15,862,548
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Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:7607282 PMID:10583221 PMID:12437656 PMID:16332973 PMID:19734544 PMID:20301779 PMID:25741868 PMID:25940403 PMID:26360549 PMID:28492532 PMID:31027506 More...
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NCBI chrNW_004936927:134,770...144,057
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Pot1 |
protection of telomeres 1 |
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ISO |
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 PMID:36113475 |
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NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201
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Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) |
RGD |
PMID:23959892 |
RGD:152977765 |
NCBI chrNW_004936514:10,920,979...10,954,483
Ensembl chrNW_004936514:10,922,322...10,954,402
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Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia |
ClinVar |
PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 |
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NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936722:320,171...323,703
Ensembl chrNW_004936722:320,917...324,492
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Cga |
glycoprotein hormones, alpha polypeptide |
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ISO |
protein:increased expression:serum |
RGD |
PMID:2473429 |
RGD:2293636 |
NCBI chrNW_004936510:4,679,349...4,696,511
Ensembl chrNW_004936510:4,679,321...4,696,529
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Eftud2 |
elongation factor Tu GTP binding domain containing 2 |
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ISO |
protein:increased expression:trophoblast, decidua: |
RGD |
PMID:32447180 |
RGD:155791666 |
NCBI chrNW_004936541:1,216,584...1,259,355
Ensembl chrNW_004936541:1,217,138...1,257,935
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Mlh1 |
mutL homolog 1 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell |
RGD |
PMID:15338238 |
RGD:2293517 |
NCBI chrNW_004936473:26,556,636...26,600,830
Ensembl chrNW_004936473:26,556,611...26,603,736
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Mmp2 |
matrix metallopeptidase 2 |
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ISO |
protein:increased expression:syncytiotrophoblast cell |
RGD |
PMID:16884384 |
RGD:2290363 |
NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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Msh2 |
mutS homolog 2 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell |
RGD |
PMID:15338238 |
RGD:2293517 |
NCBI chrNW_004936508:4,943,987...5,013,356
Ensembl chrNW_004936508:4,944,007...5,013,356
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Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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G |
Msh2 |
mutS homolog 2 |
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ISO |
protein:decreased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:15338238 |
RGD:2293517 |
NCBI chrNW_004936508:4,943,987...5,013,356
Ensembl chrNW_004936508:4,944,007...5,013,356
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G |
Mei1 |
meiotic double-stranded break formation protein 1 |
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ISO |
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 |
OMIM ClinVar |
PMID:25741868 PMID:30388401 |
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NCBI chrNW_004936492:196,829...277,052
Ensembl chrNW_004936492:197,076...276,726
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Top6bl |
TOP6B like initiator of meiotic double strand breaks |
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ISO |
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 |
OMIM ClinVar |
PMID:25741868 PMID:30388401 |
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NCBI chrNW_004936599:2,798,185...2,875,995
Ensembl chrNW_004936599:2,798,340...2,876,370
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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_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430
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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 |
PMID:25741868 |
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NCBI chrNW_004936530:4,698,234...4,723,131
Ensembl chrNW_004936530:4,695,401...4,722,924
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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_004936474:11,148,857...11,197,312
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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_004936497:5,290,068...5,321,656
Ensembl chrNW_004936497:5,290,077...5,321,876
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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_004936509:4,452,382...4,470,658
Ensembl chrNW_004936509:4,452,616...4,470,658
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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_004936514:7,131,263...7,136,775
Ensembl chrNW_004936514:7,130,848...7,136,536
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CUNH1orf105 |
chromosome unknown C1orf105 homolog |
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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_004936481:14,936,108...14,962,504
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Dhcr24 |
24-dehydrocholesterol reductase |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936522:6,423,561...6,447,363
Ensembl chrNW_004936522:6,423,561...6,444,814
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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_004936526:1,922,088...2,252,731
Ensembl chrNW_004936526:1,942,923...2,252,731
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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_004936595:4,338,831...4,671,178
Ensembl chrNW_004936595:4,338,831...4,670,498
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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_004936599:3,867,185...3,882,712
Ensembl chrNW_004936599:3,867,005...3,882,732
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Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936662:3,537,917...3,704,012
Ensembl chrNW_004936662:3,537,925...3,690,877
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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_004936581:1,328,685...1,332,713
Ensembl chrNW_004936581:1,328,685...1,332,728
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G |
Foxc2 |
forkhead box C2 |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936641:2,236,224...2,238,501
Ensembl chrNW_004936641:2,236,873...2,238,375
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G |
Foxp3 |
forkhead box P3 |
|
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_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
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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_004936470:40,416,254...40,454,717
Ensembl chrNW_004936470:40,416,014...40,454,062
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Galnt14 |
polypeptide N-acetylgalactosaminyltransferase 14 |
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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_004936493:1,984,054...2,184,693
Ensembl chrNW_004936493:1,984,238...2,184,271
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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_004936543:7,721,273...7,732,468
Ensembl chrNW_004936543:7,721,763...7,731,897
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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:20301680 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_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
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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_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048
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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 |
PMID:25741868 |
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NCBI chrNW_004936655:131,367...156,888
Ensembl chrNW_004936655:131,829...156,888
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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_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
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:20301680 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_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083
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Lztr1 |
leucine zipper like post translational regulator 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 |
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NCBI chrNW_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500
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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_004936514:3,830,189...3,832,194
Ensembl chrNW_004936514:3,830,627...3,832,009
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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_004936704:815,325...831,149
Ensembl chrNW_004936704:815,271...830,084
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Myo18a |
myosin XVIIIA |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936538:5,257,165...5,351,757
Ensembl chrNW_004936538:5,258,401...5,344,669
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Myom1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284 |
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NCBI chrNW_004936672:1,351,053...1,481,954
Ensembl chrNW_004936672:1,351,002...1,482,124
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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_004936581:1,335,969...1,367,104
Ensembl chrNW_004936581:1,338,762...1,367,104
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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_004936469:25,837,577...26,040,271
Ensembl chrNW_004936469:25,837,577...26,039,536
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Neu1 |
neuraminidase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
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NCBI chrNW_004936727:1,683,283...1,687,130
Ensembl chrNW_004936727:1,683,204...1,688,883
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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_004936597:1,426,318...1,577,193
Ensembl chrNW_004936597:1,425,974...1,572,715
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Piezo1 |
piezo type mechanosensitive ion channel component 1 (Er blood group) |
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ISO |
ClinVar Annotator: match by term: Fetal edema | 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_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233
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Pigc |
phosphatidylinositol glycan anchor biosynthesis class C |
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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_004936481:14,962,572...14,964,929
Ensembl chrNW_004936481:14,962,613...14,964,861
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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_004936581:2,031,894...2,042,294
Ensembl chrNW_004936581:2,031,822...2,042,424
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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:21901340 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_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
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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_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181
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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 PMID:36274670 More...
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NCBI chrNW_004936580:5,157,351...5,166,790
Ensembl chrNW_004936580:5,156,565...5,167,040
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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_004936532:7,142,580...7,284,722
Ensembl chrNW_004936532:7,145,882...7,286,244
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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:17033962 PMID:18414213 PMID:20080402 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_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289
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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_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066
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Serpina11 |
serpin family A member 11 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chrNW_004936846:51,074...57,452
Ensembl chrNW_004936846:51,188...58,246
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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_004936486:1,723,253...1,809,416
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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_004936538:2,921,987...2,971,521
Ensembl chrNW_004936538:2,921,719...2,971,552
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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_004936592:2,966,349...3,025,500
Ensembl chrNW_004936592:2,969,764...3,025,500
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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:25741868 PMID:26036949 PMID:28749478 |
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NCBI chrNW_004936565:4,925,400...4,952,210
Ensembl chrNW_004936565:4,925,237...4,954,054
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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_004936530:4,795,974...4,826,217
Ensembl chrNW_004936530:4,795,968...4,826,137
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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_004936474:955,081...1,194,200
Ensembl chrNW_004936474:955,040...1,195,859
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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_004936695:353,965...492,014
Ensembl chrNW_004936695:350,975...492,011
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Gdf15 |
growth differentiation factor 15 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Hyperemesis gravidarum, susceptibility to |
OMIM ClinVar |
PMID:35218128 PMID:38092039 |
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NCBI chrNW_004936596:2,854,620...2,857,018
Ensembl chrNW_004936596:2,854,841...2,857,111
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Cdkn1c |
cyclin dependent kinase inhibitor 1C |
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ISO |
ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies |
OMIM ClinVar |
PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 PMID:24098681 PMID:24313804 PMID:24624461 PMID:25057881 PMID:25262539 PMID:25614875 PMID:25741868 PMID:28492532 PMID:28546232 PMID:30374176 PMID:31630891 PMID:31976094 PMID:33076988 PMID:34098225 More...
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NCBI chrNW_004936794:1,023,891...1,025,470
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Pole |
DNA polymerase epsilon, catalytic subunit |
susceptibility |
ISO |
ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency |
ClinVar OMIM |
PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 PMID:21129811 PMID:23230001 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:25948378 PMID:26467025 PMID:27153395 PMID:28492532 PMID:29056344 PMID:29212164 PMID:29754823 PMID:29987844 PMID:30503519 PMID:35599849 PMID:35860951 More...
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NCBI chrNW_004936660:2,575,255...2,622,867
Ensembl chrNW_004936660:2,575,360...2,622,852
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Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034
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Hdac3 |
histone deacetylase 3 |
severity |
ISO |
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RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chrNW_004936504:12,530,546...12,546,556
Ensembl chrNW_004936504:12,530,528...12,546,556
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Il18 |
interleukin 18 |
severity |
ISO |
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RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23627780 |
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NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28851649 |
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NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 |
OMIM ClinVar |
PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:28492532 PMID:28733223 PMID:28924228 PMID:29238877 PMID:32650689 PMID:32695736 PMID:33223529 PMID:35894240 More...
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NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034
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Abcb11 |
ATP binding cassette subfamily B member 11 |
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ISO |
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 |
ClinVar |
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:20232290 PMID:20583290 PMID:20683201 PMID:23022423 PMID:23279303 PMID:23750872 PMID:24231640 PMID:24339557 PMID:24402531 PMID:25741868 PMID:26126923 PMID:26858187 PMID:27050426 PMID:27153395 PMID:27426735 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:29992621 PMID:30091450 PMID:30934130 PMID:31538484 PMID:31745229 PMID:32309332 PMID:32581362 PMID:32808743 PMID:34016879 More...
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NCBI chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005
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Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 |
OMIM ClinVar |
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 PMID:12624161 PMID:12746424 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16199547 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19185004 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:31000363 PMID:31130284 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32321542 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33390354 PMID:33742171 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34942279 PMID:34961929 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35922258 PMID:36277956 More...
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NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
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Hspg2 |
heparan sulfate proteoglycan 2 |
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ISO |
ClinVar Annotator: match by term: Lethal Kniest-like syndrome |
ClinVar |
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29620724 PMID:29901129 PMID:30362252 PMID:31127727 PMID:34244600 PMID:34906502 PMID:35982159 More...
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NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851
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Ldlrad2 |
low density lipoprotein receptor class A domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Lethal Kniest-like syndrome |
ClinVar |
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004936474:7,375,439...7,407,318
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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_004936589:3,838,064...3,925,029
Ensembl chrNW_004936589:3,838,064...3,925,029
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G |
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_004936565:4,925,400...4,952,210
Ensembl chrNW_004936565:4,925,237...4,954,054
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G |
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_004936506:10,191,789...10,292,355
Ensembl chrNW_004936506:10,249,687...10,292,424
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G |
C3 |
complement C3 |
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ISO |
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RGD |
PMID:8746955 |
RGD:7401278 |
NCBI chrNW_004936588:3,985,732...4,023,221
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G |
Tlr4 |
toll like receptor 4 |
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ISO |
mRNA,protein:increased expression:mammary gland: |
RGD |
PMID:21691936 |
RGD:7777124 |
NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
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G |
Pah |
phenylalanine hydroxylase |
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ISO |
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RGD |
PMID:14654659 |
RGD:1601526 |
NCBI chrNW_004936492:11,342,566...11,412,323
Ensembl chrNW_004936492:11,342,518...11,412,209
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G |
Psph |
phosphoserine phosphatase |
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ISO |
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RGD |
PMID:7201630 |
RGD:2308873 |
NCBI chrNW_004936543:7,900,319...7,922,529
Ensembl chrNW_004936543:7,900,283...7,922,541
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G |
Agt |
angiotensinogen |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:14605247 |
RGD:11039054 |
NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
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G |
Agtr2 |
angiotensin II receptor type 2 |
treatment |
ISO |
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RGD |
PMID:14605247 |
RGD:11039054 |
NCBI chrNW_004936479:13,252,678...13,255,570
Ensembl chrNW_004936479:13,252,678...13,255,570
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G |
Atf2 |
activating transcription factor 2 |
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ISO |
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MouseDO |
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NCBI chrNW_004936509:4,729,984...4,826,367
Ensembl chrNW_004936509:4,732,930...4,826,443
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
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ISO |
protein:increased expression:broncho-alveolar lavage fluid, meconium: |
RGD |
PMID:21567110 |
RGD:5144123 |
NCBI chrNW_004936581:798,738...801,614
Ensembl chrNW_004936581:798,739...801,633
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G |
Actg2 |
actin gamma 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Megacystis |
ClinVar |
PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:27481187 PMID:28422808 PMID:29781137 PMID:31769566 PMID:32814715 PMID:33294969 More...
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NCBI chrNW_004936556:174,602...220,088
Ensembl chrNW_004936556:174,602...220,285
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G |
Foxf1 |
forkhead box F1 |
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ISO |
ClinVar Annotator: match by term: Fetal megacystis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004943883:4...1,756
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G |
Pcnt |
pericentrin |
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ISO |
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357
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G |
Clasp1 |
cytoplasmic linker associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 | ClinVar Annotator: match by term: Taybi Linder syndrome |
ClinVar |
PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:21990275 PMID:22581640 PMID:23794361 PMID:24865609 PMID:25741868 PMID:25741869 PMID:26419500 PMID:26522830 PMID:26641461 PMID:27040866 PMID:28492532 PMID:28623346 PMID:28669401 PMID:29165669 PMID:29263834 PMID:29265708 PMID:29391254 PMID:29620724 PMID:30214071 PMID:30368667 PMID:30455926 PMID:32109076 PMID:32581362 PMID:32595695 PMID:32628740 PMID:33059947 PMID:37898571 More...
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NCBI chrNW_004936469:49,067,357...49,335,212
Ensembl chrNW_004936469:49,067,012...49,335,219
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G |
LOC101972165 |
myosin-7 |
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ISO |
ClinVar Annotator: match by term: Brachymelic primordial dwarfism |
ClinVar |
PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 PMID:34426522 PMID:34542152 More...
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NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129
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G |
Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610
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G |
Pcnt |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities | ClinVar Annotator: match by term: PCNT-related condition |
OMIM ClinVar |
PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 PMID:18157127 PMID:18174396 PMID:18414213 PMID:19448849 PMID:19643772 PMID:19839044 PMID:19937158 PMID:21195721 PMID:21270239 PMID:21567919 PMID:22821869 PMID:23033978 PMID:24033266 PMID:24928221 PMID:25326635 PMID:25356970 PMID:25363768 PMID:25741868 PMID:27124789 PMID:27323140 PMID:27900370 PMID:28492532 PMID:30214071 PMID:30922925 PMID:31566912 PMID:32267100 PMID:32818659 PMID:35568357 More...
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NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357
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G |
Clasp1 |
cytoplasmic linker associated protein 1 |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE | ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III |
ClinVar |
PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:24865609 PMID:25741868 PMID:26522830 PMID:28492532 PMID:28623346 PMID:29165669 PMID:29265708 PMID:29620724 PMID:30368667 PMID:30455926 PMID:32109076 PMID:32581362 PMID:32628740 PMID:37898571 More...
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NCBI chrNW_004936469:49,067,357...49,335,212
Ensembl chrNW_004936469:49,067,012...49,335,219
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G |
Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610
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G |
Nde1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936501:3,193,962...3,234,640
Ensembl chrNW_004936501:3,193,916...3,221,700
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G |
Gpx3 |
glutathione peroxidase 3 |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:8476834 |
RGD:401827852 |
NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498
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G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
OMIM ClinVar |
PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 PMID:9536098 PMID:10195214 PMID:14719537 PMID:15907919 PMID:16199547 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22406191 PMID:22728938 PMID:23037934 PMID:24121633 PMID:25348405 PMID:25450229 PMID:25741868 PMID:25741885 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:30177536 PMID:31680349 PMID:33216040 PMID:36634413 More...
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NCBI chrNW_004936509:4,452,382...4,470,658
Ensembl chrNW_004936509:4,452,616...4,470,658
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G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
OMIM ClinVar |
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18398509 PMID:18414213 PMID:23108489 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:28518170 PMID:29382405 PMID:29390429 PMID:29399782 PMID:30467950 PMID:31560172 PMID:32070632 PMID:32360402 PMID:32403337 PMID:32528171 PMID:34791078 More...
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NCBI chrNW_004936525:4,560,293...4,568,431
Ensembl chrNW_004936525:4,561,507...4,568,409
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G |
Chrng |
cholinergic receptor nicotinic gamma subunit |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
OMIM ClinVar |
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25326635 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:29054425 PMID:30868735 PMID:31230720 PMID:31680349 PMID:32536119 PMID:32901917 PMID:33060286 PMID:34008892 PMID:34440395 More...
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NCBI chrNW_004936525:4,550,987...4,556,574
Ensembl chrNW_004936525:4,550,987...4,556,576
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G |
Dis3l2 |
DIS3 like 3'-5' exoribonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936525:4,718,773...5,058,512
Ensembl chrNW_004936525:4,719,121...5,008,014
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G |
Ecel1 |
endothelin converting enzyme like 1 |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936525:4,599,840...4,608,469
Ensembl chrNW_004936525:4,600,246...4,608,508
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G |
LOC101973915 |
intestinal-type alkaline phosphatase |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936525:4,616,212...4,619,932
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G |
Prss56 |
serine protease 56 |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936525:4,568,854...4,574,332
Ensembl chrNW_004936525:4,568,802...4,574,396
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G |
Phgdh |
phosphoglycerate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 |
OMIM ClinVar |
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28492532 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:32404165 PMID:33758422 More...
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NCBI chrNW_004936627:4,414,122...4,448,347
Ensembl chrNW_004936627:4,414,122...4,448,623
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G |
Psat1 |
phosphoserine aminotransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936632:4,392,165...4,422,670
Ensembl chrNW_004936632:4,391,459...4,423,264
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G |
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_004936589:1,565,933...1,719,208
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G |
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:31825158 More...
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NCBI chrNW_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500
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G |
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_004936508:12,162,553...12,281,812
Ensembl chrNW_004936508:12,162,547...12,281,820
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G |
Agt |
angiotensinogen |
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ISO |
ClinVar Annotator: match by term: Anhydramnios |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
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G |
Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
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ISO |
ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chrNW_004936578:3,360,259...3,374,634
Ensembl chrNW_004936578:3,360,259...3,374,612
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G |
Inf2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Oligohydramnios |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936621:677,548...693,609
Ensembl chrNW_004936621:682,027...693,605
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447
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G |
Pdgfa |
platelet derived growth factor subunit A |
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ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
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ISO |
mRNA:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
mRNA:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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G |
Pdpn |
podoplanin |
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ISO |
mRNA, protein:decreased expression:lung |
RGD |
PMID:11839536 |
RGD:2292243 |
NCBI chrNW_004936474:1,751,159...1,779,011
Ensembl chrNW_004936474:1,750,944...1,781,156
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179
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G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO |
ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chrNW_004936905:76,781...128,995
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:20413436 PMID:21274727 PMID:25124979 PMID:25741868 PMID:26695994 PMID:27225849 PMID:28375157 PMID:28492532 PMID:30773290 PMID:32574212 PMID:32799815 PMID:33532864 PMID:35005812 More...
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NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 PMID:35005812 More...
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NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179
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G |
Tle6 |
TLE family member 6, subcortical maternal complex member |
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ISO |
ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 |
OMIM ClinVar |
PMID:25741868 PMID:26537248 PMID:36271123 |
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NCBI chrNW_004936588:1,708,013...1,717,956
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G |
Padi6 |
peptidyl arginine deiminase 6 |
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ISO |
ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 |
OMIM ClinVar |
PMID:17587491 PMID:18599511 PMID:25741868 PMID:27545678 PMID:34987164 PMID:37778376 More...
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NCBI chrNW_004936474:4,242,863...4,262,154
Ensembl chrNW_004936474:4,245,135...4,262,154
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G |
Ednrb |
endothelin receptor type B |
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ISO |
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RGD |
PMID:8570650 |
RGD:628515 |
NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434
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G |
Fam20c |
FAM20C golgi associated secretory pathway kinase |
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ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:25558065 |
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NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
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RGD |
PMID:12893777 |
RGD:11344906 |
NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868
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G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242822 |
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NCBI chrNW_004936521:2,000,113...2,706,010
Ensembl chrNW_004936521:2,000,109...2,705,365
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G |
Lamc3 |
laminin subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33639934 |
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NCBI chrNW_004936487:17,910,673...17,958,641
Ensembl chrNW_004936487:17,915,104...17,957,596
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G |
Pomgnt2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:22958903 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31130284 |
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NCBI chrNW_004936695:2,117,506...2,141,859
Ensembl chrNW_004936695:2,139,661...2,141,403
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G |
Spdl1 |
spindle apparatus coiled-coil protein 1 |
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ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:25558065 |
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NCBI chrNW_004936688:840,345...841,808
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G |
Wdr81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:25558065 PMID:25741868 PMID:28556411 |
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NCBI chrNW_004936538:7,856,263...7,868,249
Ensembl chrNW_004936538:7,856,185...7,868,259
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G |
Zfpm2 |
zinc finger protein, FOG family member 2 |
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ISO |
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RGD |
PMID:25196150 |
RGD:155882481 |
NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662
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