RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Pregnancy Complications |
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Accession: | DOID:9004702
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browse the term
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Definition: | Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases. |
Synonyms: | exact_synonym: | Pregnancy Complication |
| primary_id: | MESH:D011248; RDO:0001134 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Clec4m |
C-type lectin domain family 4 member M |
susceptibility |
IAGP |
associated with hepatitis B; DNA:: |
RGD |
PMID:22338216 |
RGD:39938980 |
NCBI chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
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Epo |
erythropoietin |
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ISO |
associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid |
RGD |
PMID:15502930 |
RGD:2313897 |
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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Faah |
fatty acid amide hydrolase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16886060 |
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NCBI chr 5:134,852,899...134,872,095
Ensembl chr 5:134,852,875...134,871,775
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Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11932298 |
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NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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Jak2 |
Janus kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19636672 |
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NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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Klrk1 |
killer cell lectin like receptor K1 |
treatment |
ISO |
associated with Animal Toxoplasmosis |
RGD |
PMID:28438315 |
RGD:39128164 |
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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Ncoa2 |
nuclear receptor coactivator 2 |
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IEP |
mRNA:decreased expression:uterus (rat) |
RGD |
PMID:20660062 |
RGD:5688349 |
NCBI chr 5:5,466,544...5,696,540
Ensembl chr 5:5,616,483...5,694,598
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Nfkbia |
NFKB inhibitor alpha |
susceptibility |
ISO |
associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) |
RGD |
PMID:25792174 |
RGD:11342310 |
NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
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Serpine1 |
serpin family E member 1 |
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ISO |
DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:10909993 |
RGD:13208506 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Bowen-Conradi syndrome ClinVar Annotator: match by OMIM:211180 |
OMIM ClinVar |
PMID:19463982 PMID:25741868 |
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NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
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Fas |
Fas cell surface death receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10716473 |
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NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10716473 |
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NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Prl |
prolactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18926768 |
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NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10716473 |
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NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Ager |
advanced glycosylation end product-specific receptor |
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ISO |
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RGD |
PMID:22578261 |
RGD:6767308 |
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Fas |
Fas cell surface death receptor |
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ISO |
protein:increased expression:villous trophoblast |
RGD |
PMID:12700199 |
RGD:12904022 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21493953 |
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NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il6 |
interleukin 6 |
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ISO |
protein:increased expression:plasma protein:increased expression: cervicovaginal fluid : associated with Premature Birth;protein:increased expression:tracheal aspirate fluid: |
RGD |
PMID:15547537, PMID:25687566, PMID:25011638 |
RGD:5128667, RGD:12792243, RGD:12791291 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Lta |
lymphotoxin alpha |
severity |
ISO |
associated with Premature Birth;DNA:SNP:promoter:250G>A (human) |
RGD |
PMID:15128916 |
RGD:12904055 |
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.G54D(human) |
RGD |
PMID:15723707 |
RGD:12910932 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:12712078 |
RGD:13204828 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Tgfb1 |
transforming growth factor, beta 1 |
severity |
ISO |
protein:increased expression:amniotic fluid |
RGD |
PMID:19332995 |
RGD:4145137 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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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, PMID:15128916 |
RGD:12904055, RGD:12904055 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Fgf8 |
fibroblast growth factor 8 |
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ISO |
testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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Igf2 |
insulin-like growth factor 2 |
disease_progression |
ISO |
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RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Insr |
insulin receptor |
disease_progression |
ISO |
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RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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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 chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, placenta |
RGD |
PMID:15507671 |
RGD:2290418 |
NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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Rnf135 |
ring finger protein 135 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VAN ASPEREN SYNDROME ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 |
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NCBI chr10:67,531,989...67,551,237
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Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
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ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema |
ClinVar |
PMID:25741868 |
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NCBI chr 1:81,227,855...81,245,986
Ensembl chr 1:81,230,612...81,245,996
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Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema ClinVar Annotator: match by OMIM:194380 |
OMIM ClinVar |
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23695678 PMID:24033266 PMID:25741868 PMID:28716860 PMID:29576450 |
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NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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Fadd |
Fas associated via death domain |
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ISO |
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RGD |
PMID:26419589 |
RGD:13792560 |
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
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Il6 |
interleukin 6 |
treatment |
IDA |
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RGD |
PMID:27106269 |
RGD:11062145 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Crisp3 |
cysteine-rich secretory protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19282327 |
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NCBI chr 9:24,047,405...24,088,066
Ensembl chr 9:24,066,303...24,088,064
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Cxcl12 |
C-X-C motif chemokine ligand 12 |
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ISO |
associated with Diabetes Mellitus, Insulin-Dependent |
RGD |
PMID:18384776 |
RGD:2306554 |
NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
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Gpx4 |
glutathione peroxidase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12566075 |
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NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
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Grk2 |
G protein-coupled receptor kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17008600 |
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NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
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Igf2 |
insulin-like growth factor 2 |
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IDA |
DNA:methylation: : |
RGD |
PMID:18778817 |
RGD:5509951 |
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Il18 |
interleukin 18 |
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IEP |
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RGD |
PMID:21920610 |
RGD:8655947 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Lcmt1 |
leucine carboxyl methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17724024 |
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NCBI chr 1:193,335,629...193,391,620
Ensembl chr 1:193,335,645...193,391,638
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Lif |
LIF, interleukin 6 family cytokine |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23409146 |
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NCBI chr14:84,482,652...84,500,574
Ensembl chr14:84,482,674...84,500,642
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Nlrp5 |
NLR family, pyrin domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Preimplantation embryonic lethality |
ClinVar |
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NCBI chr 1:71,452,184...71,490,915
Ensembl chr 1:71,453,798...71,486,790
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Parg |
poly (ADP-ribose) glycohydrolase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15591342 |
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NCBI chr16:8,350,168...8,457,999
Ensembl chr16:8,350,326...8,457,996
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Slc31a1 |
solute carrier family 31 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11391004 |
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NCBI chr 5:78,222,504...78,249,358
Ensembl chr 5:78,222,504...78,249,358
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Ube2n |
ubiquitin-conjugating enzyme E2N |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16738225 |
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NCBI chr 7:36,610,147...36,640,190
Ensembl chr 7:36,610,147...36,640,189
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Tshr |
thyroid stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Hyperthyroidism, familial gestational |
OMIM ClinVar |
PMID:9854118 PMID:25741868 |
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NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
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Acta1 |
actin, alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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Adssl1 |
adenylosuccinate synthase like 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 6:137,184,818...137,206,694
Ensembl chr 6:137,184,820...137,206,693
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Aldh5a1 |
aldehyde dehydrogenase 5 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
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Asah1 |
N-acylsphingosine amidohydrolase 1 |
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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 chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
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Ascc1 |
activating signal cointegrator 1 complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:28749478 PMID:31680123 |
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NCBI chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893
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Aspm |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
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Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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Aven |
apoptosis and caspase activation inhibitor |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
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Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
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Cntnap1 |
contactin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
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Dok7 |
docking protein 7 |
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ISO |
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I |
ClinVar |
PMID:2261499 PMID:9536098 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18414213 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28492532 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31880392 |
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NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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Dqx1 |
DEAQ box RNA-dependent ATPase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 4:113,890,201...113,899,355
Ensembl chr 4:113,890,509...113,899,347
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Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
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Fbln1 |
fibulin 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
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Gbe1 |
1,4-alpha-glucan branching enzyme 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
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Gcn1 |
GCN1 activator of EIF2AK4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr12:46,728,684...46,789,696
Ensembl chr12:46,728,699...46,789,726
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Gfra4 |
GDNF family receptor alpha 4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:123,573,394...123,582,431
Ensembl chr 3:123,578,997...123,581,518
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Gldn |
gliomedin |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
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Iqsec3 |
IQ motif and Sec7 domain ArfGEF 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493
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G |
Lgi4 |
leucine-rich repeat LGI family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
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G |
Magi3 |
membrane associated guanylate kinase, WW and PDZ domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 2:206,499,467...206,699,105
Ensembl chr 2:206,499,463...206,699,105
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G |
Musk |
muscle associated receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I |
ClinVar OMIM |
PMID:9536098 PMID:15184594 PMID:15496425 PMID:17576681 PMID:18414213 PMID:21520333 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:29704306 PMID:30429133 PMID:30719842 |
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NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
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G |
Naga |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
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G |
Nalcn |
sodium leak channel, non-selective |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:27214504 PMID:31680123 |
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NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123 |
|
NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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G |
Prg4 |
proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
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G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by OMIM:208150 ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar Annotator: match by term: Fetal akinesia sequence |
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:16931511 PMID:16945936 PMID:17190963 PMID:17576681 PMID:17594401 PMID:17686188 PMID:17878953 PMID:19620612 PMID:20157724 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 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:30124556 PMID:30266223 PMID:31680123 PMID:32070632 |
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NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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G |
RGD1307100 |
similar to RIKEN cDNA D630029K19 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 |
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NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
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G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
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G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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G |
Setbp1 |
SET binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123 |
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NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
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G |
Spag16 |
sperm associated antigen 16 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:77,027,626...77,833,476
Ensembl chr 9:77,320,726...77,833,281
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G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
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G |
Unc50 |
unc-50 inner nuclear membrane RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 9:44,024,994...44,032,896
Ensembl chr 9:44,025,020...44,032,888
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G |
Vps13d |
vacuolar protein sorting 13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
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G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
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|
G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2 |
OMIM ClinVar |
PMID:14504330 PMID:18179903 PMID:18252226 |
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NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 3 |
OMIM ClinVar |
PMID:16917026 PMID:18161030 PMID:18626973 PMID:19261599 PMID:21850686 PMID:22661499 PMID:25741868 PMID:28492532 PMID:31880392 |
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NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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G |
Nup88 |
nucleoporin 88 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 4 |
OMIM ClinVar |
PMID:25741868 PMID:30543681 |
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NCBI chr10:57,581,828...57,606,171
Ensembl chr10:57,581,828...57,606,171
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|
G |
Ank3 |
ankyrin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29109170 |
|
NCBI chr20:19,948,767...20,480,628
Ensembl chr20:20,105,047...20,480,623
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G |
Apoe |
apolipoprotein E |
|
ISO |
|
RGD |
PMID:15007105 |
RGD:12904641 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
Bpifa1 |
BPI fold containing family A, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15513904 |
|
NCBI chr 3:149,624,867...149,630,610
Ensembl chr 3:149,624,712...149,630,613
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|
G |
Cat |
catalase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26074427 |
|
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
treatment |
IMP IEP |
|
RGD |
PMID:22037411, PMID:23763370 |
RGD:13210751, RGD:13432044 |
NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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G |
Igf1 |
insulin-like growth factor 1 |
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IEP |
mRNA:decreased expression:cerebellum (rat) |
RGD |
PMID:16909201 |
RGD:12904886 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
IEP |
protein:decreased activity:cerebellum (rat) |
RGD |
PMID:16909201 |
RGD:12904886 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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G |
Nos1 |
nitric oxide synthase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25511929 |
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NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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G |
Pten |
phosphatase and tensin homolog |
|
IEP |
Protein:increased expression, increased activity:cerebellum (rat) |
RGD |
PMID:12700235 |
RGD:12801493 |
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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G |
Rps6ka1 |
ribosomal protein S6 kinase A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29109170 |
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NCBI chr 5:152,078,217...152,122,684
Ensembl chr 5:152,078,220...152,122,684
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G |
Rhoa |
ras homolog family member A |
|
IEP |
protein:increased activation:neuron, cerebellum |
RGD |
PMID:17109064 |
RGD:2298867 |
NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
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G |
Ace |
angiotensin I converting enzyme |
|
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:11085286 |
RGD:11038921 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Cdk8 |
cyclin-dependent kinase 8 |
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ISO |
ClinVar Annotator: match by term: Fetal death |
ClinVar |
PMID:25741868 |
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NCBI chr12:10,496,273...10,561,335
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G |
F5 |
coagulation factor V |
no_association |
ISO |
|
RGD |
PMID:14706682 |
RGD:1580130 |
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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G |
Grhl3 |
grainyhead-like transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6635991 |
|
NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
|
RGD |
PMID:20393889 |
RGD:12910472 |
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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G |
Lpar1 |
lysophosphatidic acid receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11087877 |
|
NCBI chr 5:75,557,038...75,678,067
Ensembl chr 5:75,557,042...75,676,584
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G |
Nfe2l2 |
nuclear factor, erythroid 2-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29255069 |
|
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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G |
Oxt |
oxytocin/neurophysin I prepropeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:5067144 |
|
NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11023856 |
|
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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G |
Rdh10 |
retinol dehydrogenase 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793605 |
|
NCBI chr 5:2,605,265...2,631,905
Ensembl chr 5:2,603,505...2,632,030
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G |
Tfpi |
tissue factor pathway inhibitor |
|
ISO |
associated with Hemorrhage; |
RGD |
PMID:9242522 |
RGD:11060259 |
NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
associated with Endotoxemia; human protein in rat model |
RGD |
PMID:21187445 |
RGD:5131261 |
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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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 chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:19283362 |
RGD:2313217 |
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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G |
Prkcb |
protein kinase C, beta |
|
IEP |
associated with Diabetes Mellitus, Experimental;protein:increased expression |
RGD |
PMID:15496608 |
RGD:1625524 |
NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
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G |
Prss8 |
serine protease 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22705055 |
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NCBI chr 1:199,372,519...199,377,035
Ensembl chr 1:199,372,519...199,377,035
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
ClinVar Annotator: match by term: Cocoon syndrome ClinVar Annotator: match by OMIM:613630 |
OMIM ClinVar |
PMID:20961246 PMID:25741868 |
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NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
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G |
Ermap |
erythroblast membrane associated protein (Scianna blood group) |
|
ISO |
ClinVar Annotator: match by term: Radin blood group |
ClinVar |
PMID:12393480 |
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NCBI chr 5:138,227,168...138,240,509
Ensembl chr 5:138,227,855...138,239,306
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
|
ISO |
DNA:polymorphism: : |
RGD |
PMID:19129718 |
RGD:11100009 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: Fetal Erythroblastosis |
ClinVar |
|
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NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
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G |
Slc29a1 |
solute carrier family 29 member 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal Erythroblastosis |
ClinVar |
|
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NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
|
IEP |
mRNA:increased expression:placenta |
RGD |
PMID:16225763 |
RGD:2306659 |
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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G |
Ace |
angiotensin I converting enzyme |
|
IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:24847689 |
RGD:12879387 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Acta2 |
actin alpha 2, smooth muscle |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
|
NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
treatment |
IEP |
|
RGD |
PMID:23533720 |
RGD:8695947 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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G |
Adipor1 |
adiponectin receptor 1 |
treatment |
IEP |
|
RGD |
PMID:23533720 |
RGD:8695947 |
NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
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G |
Adipor2 |
adiponectin receptor 2 |
treatment |
IEP |
|
RGD |
PMID:23533720 |
RGD:8695947 |
NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
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G |
Agt |
angiotensinogen |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:kidney,urine: |
CTD |
PMID:17537837, PMID:20530295, PMID:26270574 |
RGD:13432363, RGD:11538508 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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G |
Agtr1a |
angiotensin II receptor, type 1a |
|
IEP |
|
RGD |
PMID:21303825 |
RGD:5129179 |
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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G |
Agtr2 |
angiotensin II receptor, type 2 |
|
IEP |
|
RGD |
PMID:21303825 |
RGD:5129179 |
NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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G |
Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
|
ISO |
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) |
RGD |
PMID:26320891 |
RGD:13434923 |
NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425 Ensembl chr 1:259,641,676...259,674,425
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G |
Anapc2 |
anaphase promoting complex subunit 2 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:25724728 |
RGD:14696679 |
NCBI chr 3:2,490,496...2,502,247
Ensembl chr 3:2,490,518...2,502,248
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G |
Apoe |
apolipoprotein E |
|
IEP |
mRNA:increased expression:adrenal gland (rat) |
RGD |
PMID:19923365 |
RGD:4891147 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
Apoh |
apolipoprotein H |
|
ISO |
|
RGD |
PMID:24642748 |
RGD:10054118 |
NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
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G |
Arg1 |
arginase 1 |
|
IEP |
RNA:increased expression:thoracic aorta: |
RGD |
PMID:29741931 |
RGD:13792602 |
NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
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|
G |
Atp5f1a |
ATP synthase F1 subunit alpha |
|
IEP |
protein:increased expression:retroperitoneal fat pad (rat) |
RGD |
PMID:26633942 |
RGD:13703049 |
NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
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G |
Atp5f1b |
ATP synthase F1 subunit beta |
|
IEP |
protein:decreased expression:liver (rat) |
RGD |
PMID:26342040 |
RGD:13782135 |
NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:22932950 |
RGD:10054114 |
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:22932950 |
RGD:10054114 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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G |
Bmp4 |
bone morphogenetic protein 4 |
|
IEP |
|
RGD |
PMID:22710965 |
RGD:9068402 |
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
IEP |
|
RGD |
PMID:3973436 |
RGD:2303532 |
NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
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G |
Casp3 |
caspase 3 |
treatment |
IEP |
|
RGD |
PMID:22932950 |
RGD:10054114 |
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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G |
Col2a1 |
collagen type II alpha 1 chain |
|
IEP |
mRNA:decreased expression:distal epiphyseal plate of femur (rat) |
RGD |
PMID:22995397 |
RGD:8661261 |
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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G |
Comt |
catechol-O-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23667712 |
|
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
|
IEP |
|
RGD |
PMID:3973436 |
RGD:2303532 |
NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
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G |
Cth |
cystathionine gamma-lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
|
NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
|
IEP |
mRNA:increased expression:adrenal gland, maternal (rat) |
RGD |
PMID:17881205 |
RGD:4832477 |
NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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G |
Cyp11b1 |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
|
IEP |
protein:decreased expression:fetus, adrenal gland (rat) |
RGD |
PMID:19923365 |
RGD:4891147 |
NCBI chr 7:116,195,976...116,201,829
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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
|
IEP |
mRNA:increased expression:fetus, adrenal gland (rat) |
RGD |
PMID:19923365 |
RGD:4891147 |
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
IEP ISO |
mRNA:increased expression:placenta |
RGD |
PMID:16225763, PMID:17706398, PMID:18442069 |
RGD:2306659, RGD:11576317, RGD:11576311 |
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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G |
Des |
desmin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
|
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27776119 |
|
NCBI chr 6:133,576,513...133,583,751
Ensembl chr 6:133,552,821...133,583,751
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
IEP |
mRNA,protein:decreased expression:hippocampus: mRNA:increased expression:adrenal gland: mRNA:decreased expression:kidney: |
RGD |
PMID:16380407, PMID:24717552, PMID:12869365 |
RGD:9588242, RGD:9590296, RGD:9588619 |
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
|
IEP |
mRNA:increased expression:adrenal gland: |
RGD |
PMID:24717552 |
RGD:9590296 |
NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
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G |
Dusp1 |
dual specificity phosphatase 1 |
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IEP |
|
RGD |
PMID:12487923 |
RGD:7771581 |
NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
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G |
Dusp5 |
dual specificity phosphatase 5 |
|
IEP |
|
RGD |
PMID:16940436 |
RGD:2317872 |
NCBI chr 1:274,245,184...274,258,595
Ensembl chr 1:274,245,184...274,258,595
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Intrauterine growth retardation |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
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G |
Elk1 |
ETS transcription factor ELK1 |
|
ISO |
mRNA:decreased expression:placenta |
RGD |
PMID:20008130 |
RGD:7488901 |
NCBI chr X:1,287,875...1,304,822
Ensembl chr X:1,297,099...1,304,822
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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 chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Faslg |
Fas ligand |
severity |
ISO |
protein:increased expression:amniotic fluid: associated with protein:increased expression:serum: |
RGD |
PMID:23582102, PMID:16169656 |
RGD:12903972, RGD:12904025 |
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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G |
G6pc1 |
glucose-6-phosphatase catalytic subunit 1 |
|
IEP |
mRNA:increased expression:liver mRNA, protein:decreased expression:liver (rat) |
RGD |
PMID:15448092, PMID:23744881 |
RGD:2315963, RGD:14695550 |
NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
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G |
Ghrl |
ghrelin and obestatin prepropeptide |
disease_progression |
IEP |
|
RGD |
PMID:20637157 |
RGD:12904883 |
NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
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G |
Ghsr |
growth hormone secretagogue receptor |
disease_progression |
IEP |
|
RGD |
PMID:20637157 |
RGD:12904883 |
NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
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G |
Glud1 |
glutamate dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19500843 |
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NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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G |
Gria1 |
glutamate ionotropic receptor AMPA type subunit 1 |
|
IEP |
protein:decreased expression:cerebral cortical neuron (rat) |
RGD |
PMID:20398734 |
RGD:4107070 |
NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
IEP |
protein:decreased expression:cerebral cortical neuron (rat) |
RGD |
PMID:20398734 |
RGD:4107070 |
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
treatment |
IEP |
|
RGD |
PMID:20423831 |
RGD:13210763 |
NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion:: (human) |
RGD |
PMID:22310945, PMID:19147266 |
RGD:10450795, RGD:12792219 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion, haplotype:: (human) DNA:deletion:: (human) |
RGD |
PMID:22310945, PMID:19147266 |
RGD:10450795, RGD:12792219 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Hadha |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
|
IEP |
mRNA:decreased expression |
RGD |
PMID:11124150 |
RGD:1599884 |
NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
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G |
Hdac1 |
histone deacetylase 1 |
|
IDA IEP |
mRNA:increased expression:adrenal gland: protein:decreased expression, decreased activity:hippocampus: |
RGD |
PMID:18464933, PMID:24717552, PMID:16380407 |
RGD:2311214, RGD:9590296, RGD:9588242 |
NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
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G |
Hdac2 |
histone deacetylase 2 |
|
IEP |
mRNA:increased expression:adrenal gland: |
RGD |
PMID:24717552 |
RGD:9590296 |
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
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G |
Hnf4a |
hepatocyte nuclear factor 4, alpha |
|
ISO |
DNA:altered methylation:prompter: |
RGD |
PMID:20126273 |
RGD:12904699 |
NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
IEP |
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17272666 |
RGD:2308941 |
NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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G |
Igf1 |
insulin-like growth factor 1 |
treatment onset |
IEP ISO |
mRNA:decreased expression:liver human protein in a rat model protein:decreased expression:placenta labyrinth (rat) |
RGD |
PMID:19088829, PMID:9284279, PMID:24239160, PMID:15506645 |
RGD:2306715, RGD:12910460, RGD:12904720, RGD:1600258 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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G |
Igf1r |
insulin-like growth factor 1 receptor |
onset |
ISO IEP |
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 |
CTD |
PMID:14657428, PMID:14657428, PMID:12536576, PMID:24239160 |
RGD:1624299, RGD:12904724, RGD:12904720 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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G |
Igf2 |
insulin-like growth factor 2 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:altered expresssion:liver,placenta: |
CTD |
PMID:12087403 PMID:16040806, PMID:1408464 |
RGD:14985247 |
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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G |
Igf2r |
insulin-like growth factor 2 receptor |
|
IEP |
mRNA:increased expresssion:fetus: |
RGD |
PMID:1408464 |
RGD:14985247 |
NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
treatment |
IEP ISO |
protein:increased expression:brain protein:increased expression:Amniotic fluid: protein:decreased expression:serum: mRNA:increased expression:placenta: DNA:hypermethylation:promoter: |
RGD |
PMID:16923367, PMID:19217707, PMID:19591553, PMID:21823995, PMID:21924014, PMID:15506645 |
RGD:10402581, RGD:12743599, RGD:12743590, RGD:12743585, RGD:12743583, RGD:1600258 |
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:11005132 |
RGD:2311066 |
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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G |
Irs1 |
insulin receptor substrate 1 |
|
IEP |
mRNA,protein:decreased expression:growth plate: |
RGD |
PMID:22995397 |
RGD:8661261 |
NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
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G |
Irs2 |
insulin receptor substrate 2 |
|
IEP |
|
RGD |
PMID:20720385 |
RGD:7257699 |
NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
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G |
Lep |
leptin |
|
IDA |
|
RGD |
PMID:21353474 |
RGD:5128507 |
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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G |
Mdm2 |
MDM2 proto-oncogene |
|
IEP |
mRNA:decreased expression:cerebrum (rat) |
RGD |
PMID:15563574 |
RGD:2317395 |
NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
IEP |
mRNA,protein:decreased expression:hippocampus: |
RGD |
PMID:16380407 |
RGD:9588242 |
NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
DNA:SNP:promoter:-1306C>T (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488, PMID:17367869 |
RGD:13204803 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
susceptibility |
ISO |
DNA:SNP:cds:1958G>A(human) DNA:SNP: :401A>G(human) |
RGD |
PMID:22378735, PMID:18771981, PMID:25118499 |
RGD:12910955, RGD:12914148, RGD:12910958 |
NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
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G |
Muc1 |
mucin 1, cell surface associated |
|
IEP |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
IEP |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr 1:214,663,929...214,693,197
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G |
Muc4 |
mucin 4, cell surface associated |
|
IEP |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
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G |
Nfe2l2 |
nuclear factor, erythroid 2-like 2 |
treatment |
IEP ISO |
protein:decreased expression:placenta |
RGD |
PMID:23910525, PMID:25171874, PMID:25171874 |
RGD:10412716, RGD:26884462, RGD:26884462 |
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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G |
Nos1 |
nitric oxide synthase 1 |
|
IEP |
associated with hyperinsulinemia; protein:decreased expression:placenta |
RGD |
PMID:19709742 |
RGD:5132592 |
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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G |
Nos2 |
nitric oxide synthase 2 |
|
IEP |
associated with hyperinsulinemia; protein:increased expression:placenta |
RGD |
PMID:19709742 |
RGD:5132592 |
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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G |
Nos3 |
nitric oxide synthase 3 |
|
IEP ISO |
associated with hyperinsulinemia; protein:decreased expression:placenta CTD Direct Evidence: marker/mechanism RNA, protein:increased expression:thoracic aorta: |
CTD |
PMID:22421449 PMID:23667712, PMID:19709742, PMID:29741931 |
RGD:5132592, RGD:13792602 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
IEP IDA |
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17272666, PMID:20388836 |
RGD:2308941, RGD:4892120 |
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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G |
Orc1 |
origin recognition complex, subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21358633 |
|
NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445
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G |
Otc |
ornithine transcarbamylase |
|
IEP |
mRNA:altered expression:liver (rat) |
RGD |
PMID:8929856 |
RGD:4144077 |
NCBI chr X:13,524,804...13,601,074
Ensembl chr X:13,524,607...13,601,069
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G |
Pck1 |
phosphoenolpyruvate carboxykinase 1 |
|
IEP |
mRNA:decreased expression:liver: |
RGD |
PMID:12538794 |
RGD:10448276 |
NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
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G |
Pdgfa |
platelet derived growth factor subunit A |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:11005132 |
RGD:2311066 |
NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:11005132 |
RGD:2311066 |
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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G |
Pdx1 |
pancreatic and duodenal homeobox 1 |
|
IEP IDA |
mRNA:decreased expression:pancreas (rat) mRNA:decreased expression:pancreatic islet |
RGD |
PMID:12606515, PMID:18464933 |
RGD:2311220, RGD:2311214 |
NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
IEP |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:21425435 |
RGD:8552971 |
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
IEP |
mRNA, protein:increased expression:liver (rat) |
RGD |
PMID:18433551 |
RGD:10059649 |
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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G |
Prdx6 |
peroxiredoxin 6 |
|
ISO IEP |
protein:decreased expression:placenta |
RGD |
PMID:25171874, PMID:25171874 |
RGD:26884462, RGD:26884462 |
NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
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G |
Ptger3 |
prostaglandin E receptor 3 |
|
IEP |
mRNA, protein:increased expression:placenta (rat) |
RGD |
PMID:15990166 |
RGD:10043194 |
NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IEP |
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17272666 |
RGD:2308941 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
treatment |
IEP |
with postnatal growth restriction |
RGD |
PMID:19491300 |
RGD:12743586 |
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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G |
Rbp1 |
retinol binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
|
NCBI chr 8:106,449,321...106,470,842
Ensembl chr 8:106,449,321...106,470,842
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G |
Ren |
renin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17537837 |
|
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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G |
Samd9 |
sterile alpha motif domain containing 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27182967 |
|
NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178
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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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
Sin3a |
SIN3 transcription regulator family member A |
|
IDA |
|
RGD |
PMID:18464933 |
RGD:2311214 |
NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
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G |
Slc2a1 |
solute carrier family 2 member 1 |
|
IEP |
protein:increased expression:placenta mRNA, protein:increased expression:liver |
RGD |
PMID:11738800, PMID:9886959 |
RGD:730192, RGD:12879480 |
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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G |
Slc2a2 |
solute carrier family 2 member 2 |
|
IEP |
mRNA, protein:decreased expression:liver |
RGD |
PMID:9886959 |
RGD:12879480 |
NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
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G |
Slc2a3 |
solute carrier family 2 member 3 |
|
IEP |
protein:increased expression:placenta |
RGD |
PMID:11738800 |
RGD:730192 |
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856 Ensembl chr 4:155,408,233...155,631,856
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G |
Slc38a2 |
solute carrier family 38, member 2 |
|
IEP |
mRNA, protein:decreased expression:placenta |
RGD |
PMID:21812961 |
RGD:9999212 |
NCBI chr 7:138,088,654...138,100,869
Ensembl chr 7:138,088,649...138,100,841
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21893188 |
|
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
IEP |
|
RGD |
PMID:19017816 |
RGD:2308805 |
NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
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G |
Srebf1_v2 |
sterol regulatory element binding factor 1, variant 2 |
|
IEP |
|
RGD |
PMID:19017816 |
RGD:2308805 |
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G |
Star |
steroidogenic acute regulatory protein |
|
IEP |
mRNA:increased expression:adrenal gland, maternal (rat) |
RGD |
PMID:17881205 |
RGD:4832477 |
NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
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G |
Tff3 |
trefoil factor 3 |
|
IEP |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr20:9,850,800...9,855,481
Ensembl chr20:9,850,803...9,855,481
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G |
Unc13a |
unc-13 homolog A |
|
IEP |
|
RGD |
PMID:18787382 |
RGD:5686390 |
NCBI chr16:20,056,398...20,103,951
Ensembl chr16:20,056,765...20,097,287
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G |
Vdr |
vitamin D receptor |
|
ISO |
mRNA,protein:decreased expression:placenta: |
RGD |
PMID:25716068 |
RGD:11058690 |
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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G |
Xdh |
xanthine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Intrauterine growth retardation |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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G |
Crh |
corticotropin releasing hormone |
|
IEP |
protein:increased expression:paraventricular nucleus of hypothalamus (rat) |
RGD |
PMID:19409200 |
RGD:5491006 |
NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
IEP |
protein:increased expression:paraventricular nucleus of hypothalamus (rat) |
RGD |
PMID:19409200 |
RGD:5491006 |
NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
|
IEP |
protein:decreased expression:paraventricular nucleus of hypothalamus (rat) |
RGD |
PMID:19409200 |
RGD:5491006 |
NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362
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G |
Egr1 |
early growth response 1 |
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IDA |
|
RGD |
PMID:23427086 |
RGD:10395301 |
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
IEP |
protein:altered expression:heart (rat) |
RGD |
PMID:21856922 |
RGD:7207283 |
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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G |
Mmp13 |
matrix metallopeptidase 13 |
|
IEP |
protein:increased expression:heart (rat) |
RGD |
PMID:21856922 |
RGD:7207283 |
NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
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G |
Nos1 |
nitric oxide synthase 1 |
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IEP |
|
RGD |
PMID:17310378 |
RGD:1642145 |
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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G |
Hnf4a |
hepatocyte nuclear factor 4, alpha |
|
ISO IEP |
DNA:mutations: : |
RGD |
PMID:17407387, PMID:19435144 |
RGD:12904698, RGD:12904767 |
NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
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G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:17113804 |
RGD:12743591 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:17113804 |
RGD:12743591 |
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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G |
Lipc |
lipase C, hepatic type |
|
IEP |
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) |
RGD |
PMID:10600655 |
RGD:2308786 |
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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G |
Maoa |
monoamine oxidase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22340208 |
|
NCBI chr X:6,554,698...6,620,722
Ensembl chr X:6,554,698...6,620,722
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G |
Apoh |
apolipoprotein H |
|
ISO |
|
RGD |
PMID:24642748 |
RGD:10054118 |
NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
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G |
Prl |
prolactin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:3816235 |
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NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
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G |
Prl |
prolactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20083845 |
|
NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
treatment |
ISO IEP |
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15126557, PMID:19626510, PMID:23608331 |
RGD:2313236, RGD:8695950 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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G |
Ahsg |
alpha-2-HS-glycoprotein |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12153747 |
RGD:2313814 |
NCBI chr11:81,711,269...81,717,594
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G |
Apod |
apolipoprotein D |
|
ISO |
|
RGD |
PMID:6828336 |
RGD:2311180 |
NCBI chr11:72,705,204...72,726,263
Ensembl chr11:72,705,129...72,726,301
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G |
Ar |
androgen receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
|
NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
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G |
Bnip3l |
BCL2 interacting protein 3 like |
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IEP |
|
RGD |
PMID:26512955 |
RGD:11564338 |
NCBI chr15:43,643,897...43,667,123
Ensembl chr15:43,643,897...43,667,029
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
|
RGD |
PMID:18702087 |
RGD:2306986 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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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 chr17:36,451,031...37,157,882
Ensembl chr17:36,451,058...37,295,069
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
|
NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
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G |
Dcn |
decorin |
|
ISO |
|
RGD |
PMID:16630654 |
RGD:2311413 |
NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
|
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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G |
Foxm1 |
forkhead box M1 |
|
ISO |
|
RGD |
PMID:19833884 |
RGD:2315927 |
NCBI chr 4:161,685,236...161,697,633
Ensembl chr 4:161,685,258...161,696,305
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G |
G6pc1 |
glucose-6-phosphatase catalytic subunit 1 |
|
ISO |
protein:increased activity:liver |
RGD |
PMID:12595588 |
RGD:2315965 |
NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
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G |
Gad2 |
glutamate decarboxylase 2 |
|
ISO |
|
RGD |
PMID:18588707 |
RGD:2313295 |
NCBI chr17:89,171,576...89,234,770
Ensembl chr17:89,171,250...89,238,040
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G |
Gck |
glucokinase |
|
ISO |
DNA:SNP:promoter:A allele of -30G>A associated with GDM (p=0.008) (human) ClinVar Annotator: match by term: Gestational diabetes ClinVar Annotator: match by term: gestational diabetes ClinVar Annotator: match by term: Diabetes mellitus, gestational DNA:point mutation:exon:S131P |
ClinVar |
PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 PMID:10525657 PMID:10754480 PMID:12442280 PMID:14517946 PMID:14517956 PMID:15102714 PMID:15305805 PMID:16731834 PMID:17186219 PMID:17389332 PMID:17937063 PMID:18056790 PMID:18414213 PMID:20337973 PMID:21395678 PMID:21831042 PMID:21921030 PMID:21978167 PMID:22028181 PMID:22065275 PMID:22820548 PMID:23771172 PMID:24033266 PMID:24568320 PMID:24578721 PMID:25082184 PMID:25306193 PMID:25494859 PMID:25555642 PMID:25741868 PMID:26467025 PMID:29510678, PMID:16752173, PMID:8495817 |
RGD:2301873, RGD:1601293 |
NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
|
ISO |
protein:increased activity:blood |
RGD |
PMID:18937705 |
RGD:2315598 |
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
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G |
Gh1 |
growth hormone 1 |
|
ISO |
protein:increased expression: |
RGD |
PMID:3519044 |
RGD:2315681 |
NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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G |
Gpx1 |
glutathione peroxidase 1 |
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IDA |
|
RGD |
PMID:22342560 |
RGD:11353780 |
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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G |
Hnf1a |
HNF1 homeobox A |
|
ISO |
DNA:SNP:CDS:slightly increased frequency of the L allele of the I27L polymorphism (p=0.048) (human) |
RGD |
PMID:16752173 |
RGD:2301873 |
NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
protein:decreased expression:placenta protein:increased expression:decidua, endothelial cell |
RGD |
PMID:19343356, PMID:17990298 |
RGD:2313469, RGD:2313476 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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IEP |
|
RGD |
PMID:22241286 |
RGD:10046048 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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G |
Il10 |
interleukin 10 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:18446686 |
RGD:2308947 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:extracellular space (human) |
RGD |
PMID:19408175 |
RGD:2307186 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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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 chr17:51,894,869...51,919,998
Ensembl chr17:51,898,217...51,912,496
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G |
Ins2 |
insulin 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:19269197 |
RGD:2311131 |
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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G |
Insr |
insulin receptor |
|
ISO IEP |
mRNA, protein:increased expression:placenta (human) |
RGD |
PMID:19179458, PMID:22241286 |
RGD:2307336, RGD:10046048 |
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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G |
Lep |
leptin |
|
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132, PMID:19269197 |
RGD:2311131 |
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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G |
Lepr |
leptin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
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NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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G |
Mbl2 |
mannose binding lectin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15472209 |
|
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
Men1 |
menin 1 |
|
ISO |
|
RGD |
PMID:17975067 |
RGD:2317319 |
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISS |
|
MouseDO |
|
|
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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G |
Mir133a1 |
microRNA 133a-1 |
|
IEP |
|
RGD |
PMID:26512955 |
RGD:11564338 |
NCBI chr18:2,052,478...2,052,564
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
|
RGD |
PMID:17259140 |
RGD:2311668 |
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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G |
Retn |
resistin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:19408175 |
RGD:2307186 |
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
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G |
Sirt3 |
sirtuin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23956348 |
|
NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23956348 PMID:30738174 |
|
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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G |
Srrm1 |
serine and arginine repetitive matrix 1 |
|
ISO |
protein:increased glycation:placenta (human) |
RGD |
PMID:24308201 |
RGD:11038724 |
NCBI chr 5:153,675,619...153,708,187
Ensembl chr 5:153,675,624...153,708,170
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G |
Tcf7l2 |
transcription factor 7 like 2 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18984664 |
RGD:2312455 |
NCBI chr 1:276,686,911...276,730,517
Ensembl chr 1:276,659,542...276,730,514 Ensembl chr 1:276,659,542...276,730,514
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G |
Uts2 |
urotensin 2 |
susceptibility |
ISO |
DNA:polymorphism |
RGD |
PMID:17327028 |
RGD:2306802 |
NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
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G |
Pou5f1 |
POU class 5 homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18440631 |
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NCBI chr20:3,747,231...3,751,994
Ensembl chr20:3,747,221...3,751,994
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G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: GRACILE syndrome ClinVar Annotator: match by OMIM:603358 |
OMIM ClinVar |
PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24236502 PMID:24655110 PMID:25326637 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:26489029 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:31435670 |
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NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
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G |
Sema6b |
semaphorin 6B |
|
ISO |
ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage |
ClinVar |
PMID:31474318 |
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NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Greenberg dysplasia ClinVar Annotator: match by OMIM:215140 DNA:mutations:cds:multiple (human) |
OMIM ClinVar |
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28166811 PMID:28492532, PMID:21327084 |
RGD:9588626 |
NCBI chr13:100,431,390...100,450,209
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G |
Apoe |
apolipoprotein E |
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ISO |
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RGD |
PMID:19086990 |
RGD:11039490 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
Cbx3 |
chromobox 3 |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr 4:81,243,809...81,257,898
Ensembl chr 4:81,244,469...81,257,897
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G |
Ccdc68 |
coiled-coil domain containing 68 |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr18:68,408,812...68,472,323
Ensembl chr18:68,408,890...68,472,320
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G |
Cenph |
centromere protein H |
|
ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr 2:30,766,637...30,780,123
Ensembl chr 2:30,766,590...30,780,121
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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 chr 4:83,390,782...83,840,356
Ensembl chr 4:83,391,283...83,836,351
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G |
F5 |
coagulation factor V |
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ISO |
ClinVar Annotator: match by term: ABORTION, SPONTANEOUS, RECURRENT |
ClinVar |
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 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:12070000 PMID:12421138 PMID:14996674 PMID:15534175 PMID:15638861 PMID:16493002 PMID:16931580 PMID:19652888 PMID:20051284 PMID:21116184 PMID:21774968 PMID:23382263 PMID:23677252 PMID:23900608 PMID:24033266 PMID:25741868 PMID:25977387 PMID:26251307 PMID:26990548 PMID:28492532 |
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NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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G |
Mthfr |
methylenetetrahydrofolate reductase |
no_association |
ISO |
DNA:SNPs: :677C>T, 1298A>C (human) DNA:SNP: :1298A>C (human) |
RGD |
PMID:22047507, PMID:22882325, PMID:19906129 |
RGD:10449404, RGD:10449415, RGD:10449411 |
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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G |
Pif1 |
PIF1 5'-to-3' DNA helicase |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr 8:71,124,477...71,133,460
Ensembl chr 8:71,125,414...71,132,629
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G |
Plk1 |
polo-like kinase 1 |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr 1:192,115,990...192,125,969
Ensembl chr 1:192,115,966...192,125,989
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G |
Rexo4 |
REX4 homolog, 3'-5' exonuclease |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr 3:5,500,578...5,510,908
Ensembl chr 3:5,500,589...5,510,908
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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 chr 7:29,029,887...29,044,344
Ensembl chr 7:29,029,263...29,044,251
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G |
Thbd |
thrombomodulin |
susceptibility |
ISO |
DNA:SNP: :1418C>T (human) |
RGD |
PMID:23954867 |
RGD:11038683 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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G |
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 chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
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G |
Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:blood platelet (human) |
RGD |
PMID:23241952 |
RGD:11522719 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
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RGD |
PMID:9158311 |
RGD:1580990 |
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO IEP |
DNA:SNP:promoter:-670A>G(rs1800682)(human) protein,mRNA:altered expression:placenta, liver: |
RGD |
PMID:30066360, PMID:28501275 |
RGD:14700669, RGD:14700673 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Faslg |
Fas ligand |
susceptibility |
ISO IEP |
DNA:SNP:intron:124A>G(rs5030772)(human) protein:altered expression:blood, placenta, liver: |
RGD |
PMID:30066360, PMID:28501275 |
RGD:14700669, RGD:14700673 |
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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G |
Dclre1b |
DNA cross-link repair 1B |
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ISO |
ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
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G |
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:19734544 |
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NCBI chr X:155,844,914...155,862,363
Ensembl chr X:155,844,857...155,862,475
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17785587 |
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NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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G |
Cga |
glycoprotein hormones, alpha polypeptide |
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ISO |
protein:increased expression:serum |
RGD |
PMID:2473429 |
RGD:2293636 |
NCBI chr 5:50,362,491...50,393,368
Ensembl chr 5:50,381,244...50,393,367
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G |
Khdc3 |
KH domain containing 3, subcortical maternal complex member |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydatidiform mole |
CTD ClinVar |
PMID:25741868 |
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NCBI chr 8:79,781,941...79,783,845
Ensembl chr 8:79,781,983...79,783,592
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G |
Mlh1 |
mutL homolog 1 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell |
RGD |
PMID:15338238 |
RGD:2293517 |
NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
protein:increased expression:syncytiotrophoblast cell |
RGD |
PMID:16884384 |
RGD:2290363 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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G |
Msh2 |
mutS homolog 2 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell |
RGD |
PMID:15338238 |
RGD:2293517 |
NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
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G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hydatidiform mole |
ClinVar |
PMID:24033266 PMID:25741868 |
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NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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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 chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
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G |
Kir3dl1 |
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 |
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ISO |
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 |
ClinVar |
PMID:19066229 PMID:21507883 PMID:24105752 |
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NCBI chr 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
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G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 |
ClinVar |
PMID:11598368 PMID:14756744 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19650864 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22315435 PMID:22361007 PMID:22646272 PMID:23201303 PMID:23354651 PMID:24033266 PMID:24105752 PMID:25082979 PMID:25097207 PMID:25741868 PMID:26956250 PMID:28492532 |
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NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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G |
Khdc3 |
KH domain containing 3, subcortical maternal complex member |
|
ISO |
ClinVar Annotator: match by OMIM:614293 ClinVar Annotator: match by This custom term has been created by RGD curators. |
OMIM ClinVar |
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 PMID:23232697 PMID:24033266 |
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NCBI chr 8:79,781,941...79,783,845
Ensembl chr 8:79,781,983...79,783,592
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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 chr 7:123,308,041...123,361,391
Ensembl chr 7:123,308,041...123,361,391
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G |
RGD1563323 |
similar to hypothetical protein FLJ22531 |
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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 chr 1:219,864,108...219,952,143
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G |
Alb |
albumin |
disease_progression |
ISO |
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RGD |
PMID:17195148 |
RGD:11036098 |
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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G |
Ccbe1 |
collagen and calcium binding EGF domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19911200 |
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NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
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G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
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G |
Ctsa |
cathepsin A |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
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G |
Dnah14 |
dynein axonemal heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr13:99,886,373...100,072,674 NCBI chr13:101,936,210...101,973,640
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G |
Foxp3 |
forkhead box P3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:11137992 PMID:11295725 PMID:25741868 |
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NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Fzd6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:26036949 |
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NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
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G |
Galnt14 |
polypeptide N-acetylgalactosaminyltransferase 14 |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 6:24,770,308...24,985,711
Ensembl chr 6:24,770,317...24,985,716
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G |
Gusb |
glucuronidase, beta |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 |
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NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
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G |
Hba-a3 |
hemoglobin alpha, adult chain 3 |
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ISO |
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME |
ClinVar |
PMID:9029003 PMID:11722414 |
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NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
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G |
Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis, non-immune |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:7881431 PMID:9300653 PMID:25741868 PMID:31680349 |
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NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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G |
Myo18a |
myosin XVIIIa |
|
ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr10:64,979,770...65,080,535
Ensembl chr10:64,979,770...65,080,535
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G |
Myom1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 PMID:28492532 |
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NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
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G |
Neb |
nebulin |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 PMID:28492532 |
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NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
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G |
Neu1 |
neuraminidase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
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NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
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G |
Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
|
ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 PMID:30244526 PMID:31680349 |
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NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
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G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:10449659 PMID:25741868 PMID:31680349 |
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NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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G |
RGD1309106 |
similar to hypothetical protein |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25741868 PMID:26633545 PMID:28492532 PMID:31680349 |
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NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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G |
Sftpa1 |
surfactant protein A1 |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:7590701 |
RGD:4143453 |
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
|
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G |
Slc26a3 |
solute carrier family 26 member 3 |
|
ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 |
|
NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
|
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
|
NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
|
|
G |
Ubn1 |
ubinuclein 1 |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr10:10,690,224...10,725,655
Ensembl chr10:10,690,224...10,725,655
|
|
|
G |
Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by OMIM:617021 ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia |
ClinVar OMIM |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:30737337 PMID:32442335 |
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NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
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Cdkn1c |
cyclin-dependent kinase inhibitor 1C |
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ISO |
ClinVar Annotator: match by term: IMAGE Syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:614732 |
OMIM ClinVar CTD |
PMID:15769992 PMID:22634751 PMID:24098681 PMID:25057881 PMID:25262539 PMID:25614875 PMID:25741868 PMID:28492532 PMID:30374176 |
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NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
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Pole |
DNA polymerase epsilon, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY |
ClinVar OMIM |
PMID:14760276 PMID:16835919 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30503519 |
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NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
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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 chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cholestasis of pregnancy |
CTD ClinVar |
PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 PMID:25741868 PMID:28492532 |
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NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
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Hdac3 |
histone deacetylase 3 |
severity |
ISO |
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RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
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Il18 |
interleukin 18 |
severity |
ISO |
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RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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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 chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
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OMIM |
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NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
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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:19101985 PMID:20232290 PMID:20583290 PMID:23022423 PMID:23279303 PMID:23750872 PMID:24231640 PMID:24402531 PMID:24991443 PMID:25741868 PMID:27050426 PMID:27153395 PMID:28492532 PMID:32581362 |
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NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
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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 ClinVar Annotator: match by OMIM:614972 |
OMIM ClinVar |
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24806754 PMID:24914347 PMID:25741868 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26900700 PMID:28492532 PMID:28776642 PMID:31000363 PMID:32581362 |
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NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20194756 PMID:28167773 |
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NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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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:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29901129 |
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NCBI chr 5:155,812,096...155,913,751
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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 chr 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
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Ephb4 |
EPH receptor B4 |
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ISO |
ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to |
ClinVar OMIM |
PMID:27400125 PMID:29905864 |
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NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
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Calcrl |
calcitonin receptor like receptor |
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ISO |
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OMIM |
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NCBI chr 3:71,747,938...71,845,487
Ensembl chr 3:71,747,956...71,845,232
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C3 |
complement C3 |
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ISO |
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RGD |
PMID:8746955 |
RGD:7401278 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
associated with HIV Infections |
RGD |
PMID:16250882 |
RGD:5683897 |
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
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Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16041010 |
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NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
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Tlr4 |
toll-like receptor 4 |
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IEP |
mRNA,protein:increased expression:mammary gland: |
RGD |
PMID:21691936 |
RGD:7777124 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tlr9 |
toll-like receptor 9 |
resistance |
IEP |
mRNA:increased expression:mammary gland (rat) |
RGD |
PMID:17321466 |
RGD:5130197 |
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Pah |
phenylalanine hydroxylase |
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ISO |
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RGD |
PMID:14654659 |
RGD:1601526 |
NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
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Psph |
phosphoserine phosphatase |
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IEP |
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RGD |
PMID:7201630 |
RGD:2308873 |
NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
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Agt |
angiotensinogen |
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IEP |
mRNA:increased expression:lung |
RGD |
PMID:14605247 |
RGD:11039054 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Agtr2 |
angiotensin II receptor, type 2 |
treatment |
IMP |
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RGD |
PMID:14605247 |
RGD:11039054 |
NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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Atf2 |
activating transcription factor 2 |
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ISS |
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MouseDO |
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NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
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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 chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
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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:26813947 PMID:27007401 PMID:28422808 |
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NCBI chr 4:115,215,160...115,239,746
Ensembl chr 4:115,215,060...115,239,723
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Foxf1 |
forkhead box F1 |
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ISO |
ClinVar Annotator: match by term: Fetal megacystis |
ClinVar |
PMID:25741868 |
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NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
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Pcnt |
pericentrin |
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ISO |
ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism |
ClinVar |
PMID:18414213 PMID:28492532 |
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NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
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Clasp1 |
cytoplasmic linker associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia |
ClinVar |
PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 PMID:23794361 PMID:24865609 PMID:25741868 PMID:25741869 PMID:26522830 PMID:27040866 PMID:28492532 PMID:29165669 PMID:29265708 PMID:30368667 PMID:32628740 |
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NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
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Pcnt |
pericentrin |
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ISO |
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2 ClinVar Annotator: match by OMIM:210720 DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human) DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human) |
OMIM ClinVar |
PMID:12210304 PMID:15372530 PMID:18157127 PMID:18174396 PMID:18414213 PMID:19448849 PMID:19643772 PMID:19839044 PMID:19937158 PMID:21195721 PMID:21567919 PMID:23033978 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27323140 PMID:27900370 PMID:28492532 PMID:30922925 PMID:32818659, PMID:18157127, PMID:19643772, PMID:18174396, PMID:21567919 |
RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400 |
NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
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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:8872460 PMID:9158151 PMID:9536098 PMID:14719537 PMID:15907919 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22728938 PMID:24121633 PMID:25450229 PMID:25741868 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:29395675 |
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NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
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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:17576681 PMID:18252226 PMID:18414213 PMID:23108489 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:29382405 |
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NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
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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:25608830 PMID:25741868 PMID:25957469 PMID:26752647 PMID:27245440 PMID:28492532 PMID:31680349 |
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NCBI chr 9:94,302,218...94,308,591
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Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome |
OMIM ClinVar |
PMID:614258 PMID:12605447 PMID:16007586 PMID:19938095 PMID:21855841 PMID:25741868 PMID:25898808 PMID:27612211 PMID:28459997 PMID:28492532 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 PMID:32214227 PMID:32860008 |
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NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
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Phgdh |
phosphoglycerate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 ClinVar Annotator: match by OMIM:256520 |
OMIM ClinVar |
PMID:11034457 PMID:11055895 PMID:19235232 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
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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 chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
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Inf2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Oligohydramnios |
ClinVar |
PMID:25741868 |
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NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
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G |
Pdgfa |
platelet derived growth factor subunit A |
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IEP |
mRNA, protein:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
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G |
Pdgfb |
platelet derived growth factor subunit B |
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IEP |
mRNA, protein:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Pdgfra |
platelet derived growth factor receptor alpha |
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IEP |
mRNA:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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IEP |
mRNA:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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Pdpn |
podoplanin |
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IEP |
mRNA, protein:decreased expression:lung |
RGD |
PMID:11839536 |
RGD:2292243 |
NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
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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 |
PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:20413436 PMID:21274727 PMID:25124979 PMID:25741868 PMID:26695994 PMID:28375157 PMID:28492532 |
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NCBI chr 9:26,164,969...26,736,704
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Oligohydramnios |
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 |
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NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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G |
Ednrb |
endothelin receptor type B |
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IAGP |
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RGD |
PMID:8570650 |
RGD:628515 |
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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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 chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
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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 chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:25558065 |
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NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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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 chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
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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 |
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NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
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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 |
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NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
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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 chr10:19,628,070...19,652,914
Ensembl chr10:19,628,258...19,652,898
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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 chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
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ISO |
ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism |
ClinVar |
PMID:25741868 |
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NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
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G |
Dis3l2 |
DIS3-like 3'-5' exoribonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:267000 |
OMIM ClinVar CTD |
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23576526 PMID:23594738 PMID:23613427 PMID:24141620 PMID:25640679 PMID:25741868 PMID:28135719 PMID:28492532 |
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NCBI chr 9:93,767,837...94,161,106
Ensembl chr 9:93,660,680...94,160,760
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G |
Ptf1a |
pancreas associated transcription factor 1a |
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ISO |
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:609069 |
OMIM ClinVar CTD |
PMID:10507728 PMID:15543146 PMID:19650412 PMID:20065546 PMID:21749365 PMID:25741868 PMID:25775927 PMID:28492532 |
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NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
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G |
Igf2 |
insulin-like growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12087403 |
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NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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G |
Prss8 |
serine protease 8 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24722141 |
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NCBI chr 1:199,372,519...199,377,035
Ensembl chr 1:199,372,519...199,377,035
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G |
Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24722141 |
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NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16007645 |
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NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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G |
Bhmt |
betaine-homocysteine S-methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17376725 |
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NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
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G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15633187 |
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NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11354626 |
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NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
susceptibility |
ISO |
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RGD |
PMID:9855597 |
RGD:11564329 |
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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IEP |
mRNA, protein:increased expression:placenta |
RGD |
PMID:20621762 |
RGD:5147460 |
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
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IEP |
mRNA, protein:altered expression:hippocampus (rat) |
RGD |
PMID:20662593 |
RGD:4890445 |
NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
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G |
Emp2 |
epithelial membrane protein 2 |
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ISS |
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MouseDO |
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NCBI chr10:5,433,248...5,467,840
Ensembl chr10:5,433,248...5,467,839
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G |
Epo |
erythropoietin |
treatment |
ISO |
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RGD |
PMID:20809703 |
RGD:10400897 |
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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G |
Gjb3 |
gap junction protein, beta 3 |
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ISO |
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RGD |
PMID:11237463 |
RGD:12436730 |
NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IEP |
mRNA, protein:altered expression:hippocampus (rat) |
RGD |
PMID:19144756 |
RGD:2326049 |
NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
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IEP |
protein:decreased expression:hippocampus (rat) |
RGD |
PMID:19144756 |
RGD:2326049 |
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
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IEP |
protein:increased expression:hippocampus (rat) |
RGD |
PMID:19144756 |
RGD:2326049 |
NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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G |
Itga2 |
integrin subunit alpha 2 |
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IEP |
mRNA:decreased expression:placenta (rat) |
RGD |
PMID:20621762 |
RGD:5147460 |
NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
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G |
Pdx1 |
pancreatic and duodenal homeobox 1 |
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IEP |
mRNA:increased expression:placenta (rat) |
RGD |
PMID:17893880 |
RGD:2311215 |
NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
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IEP |
mRNA, protein:decreased expression:gastrocnemius muscle (rat) |
RGD |
PMID:18319353 |
RGD:10059693 |
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:26903689 |
RGD:11557202 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
Gldn |
gliomedin |
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ISO |
ClinVar Annotator: match by term: Polyhydramnios |
ClinVar |
PMID:25741868 PMID:27616481 PMID:28726266 PMID:31680349 |
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NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
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G |
Igf2 |
insulin-like growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9349812 |
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NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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G |
Kcnq1 |
potassium voltage-gated channel subfamily Q member 1 |
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ISO |
ClinVar Annotator: match by term: Polyhydramnios |
ClinVar |
PMID:15781747 PMID:15840476 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23392653 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:27831900 PMID:28492532 |
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NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
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G |
Lnpep |
leucyl and cystinyl aminopeptidase |
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ISO |
associated with Diabetes Mellitus |
RGD |
PMID:1789335 |
RGD:2311543 |
NCBI chr 1:59,289,392...59,384,540
Ensembl chr 1:59,297,294...59,347,472 Ensembl chr 1:59,297,294...59,347,472
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G |
Mtm1 |
myotubularin 1 |
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ISO |
ClinVar Annotator: match by term: Polyhydramnios |
ClinVar |
PMID:25741868 |
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NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
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G |
Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: Polyhydramnios |
ClinVar |
PMID:25741868 PMID:30244526 PMID:31680349 |
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NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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G |
Slc26a3 |
solute carrier family 26 member 3 |
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ISO |
ClinVar Annotator: match by term: Polyhydramnios |
ClinVar |
PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 |
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NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
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G |
Strada |
STE20 related adaptor alpha |
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ISO |
ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy ClinVar Annotator: match by OMIM:611087 |
OMIM ClinVar |
PMID:17522105 PMID:20424326 PMID:25741868 PMID:27170158 PMID:28492532 PMID:29358611 |
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NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
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G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
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ISS |
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MouseDO |
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NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
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G |
Il10 |
interleukin 10 |
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IEP |
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RGD |
PMID:17033197 |
RGD:1598630 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Tph1 |
tryptophan hydroxylase 1 |
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ISO |
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RGD |
PMID:15544576 |
RGD:1580465 |
NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442
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G |
Ace |
angiotensin I converting enzyme |
onset |
ISO |
CTD Direct Evidence: marker/mechanism DNA:insertion/deletion:intron 16: |
CTD |
PMID:17114810, PMID:20044877 |
RGD:40400703 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Add1 |
adducin 1 |
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ISO |
mRNA:increased expression:blood |
RGD |
PMID:19731222 |
RGD:5147993 |
NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
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G |
Agt |
angiotensinogen |
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ISO |
DNA:polymorphism: :p.M235T (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Preeclampsia, susceptibility to |
CTD ClinVar |
PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 PMID:8518804 PMID:9259580 PMID:9421481 PMID:9831339 PMID:16059745 PMID:25741868, PMID:8513325, PMID:20530295 |
RGD:1300394, RGD:13432363 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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G |
Akr1c3 |
aldo-keto reductase family 1, member C3 |
treatment |
ISO IEP |
mRNA:decreased expression:blood: |
RGD |
PMID:19681734, PMID:25876805 |
RGD:10053633, RGD:11541124 |
NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
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G |
Alb |
albumin |
severity |
ISO |
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RGD |
PMID:21923989 |
RGD:11035264 |
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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G |
Anxa5 |
annexin A5 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19837457 |
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NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
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G |
Apela |
apelin receptor early endogenous ligand |
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ISS |
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 |
MouseDO |
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NCBI chr16:26,582,103...26,583,828
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G |
Arhgap45 |
Rho GTPase activating protein 45 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26095815 |
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NCBI chr 7:12,541,032...12,741,314
Ensembl chr 7:12,541,061...12,741,296
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G |
Asb4 |
ankyrin repeat and SOCS box-containing 4 |
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ISS |
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 |
MouseDO |
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NCBI chr 4:30,461,673...30,501,340
Ensembl chr 4:30,313,102...30,501,329
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G |
C3 |
complement C3 |
treatment |
IDA |
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RGD |
PMID:23685261 |
RGD:7411624 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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IEP |
protein:increased secretion:serum (rat) |
RGD |
PMID:19617880 |
RGD:2317272 |
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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G |
Ccn3 |
cellular communication network factor 3 |
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ISO |
protein:decreased expression:placenta (human) |
RGD |
PMID:16675545 |
RGD:1580971 |
NCBI chr 7:94,375,134...94,382,154
Ensembl chr 7:94,375,020...94,383,024
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G |
Cd274 |
CD274 molecule |
treatment |
IEP |
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RGD |
PMID:27277012 |
RGD:40886269 |
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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G |
Cd40 |
CD40 molecule |
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ISO |
protein:increased expression:blood, monocyte (human) |
RGD |
PMID:19221099 |
RGD:11520792 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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G |
Cd40lg |
CD40 ligand |
treatment |
IMP ISO |
protein:increased expression:blood platelet (human) |
RGD |
PMID:26310940, PMID:23241952 |
RGD:11056772, RGD:11522719 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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G |
Cd46 |
CD46 molecule |
susceptibility no_association |
ISO |
DNA:missense mutation:cds:p.A304V (human) |
RGD |
PMID:21445332, PMID:25710174 |
RGD:6483459, RGD:11352807 |
NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
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G |
Cdkn1c |
cyclin-dependent kinase inhibitor 1C |
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ISS |
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 |
MouseDO |
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NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
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G |
Chi3l1 |
chitinase 3 like 1 |
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ISO |
protein:increased secretion:umbilical cord, serum (human) |
RGD |
PMID:18054022 |
RGD:4892664 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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G |
Clu |
clusterin |
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ISO |
DNA:SNP:exon:866C>T (human) |
RGD |
PMID:15925890 |
RGD:1581195 |
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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G |
Comt |
catechol-O-methyltransferase |
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ISS |
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 |
MouseDO |
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NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
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G |
Corin |
corin, serine peptidase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr14:38,247,379...38,474,931
Ensembl chr14:38,247,791...38,473,648
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G |
Cp |
ceruloplasmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18679377 |
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NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
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G |
Cst3 |
cystatin C |
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ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:18197549 |
RGD:2314350 |
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISO |
DNA:missense mutation:cds:p.V386A (human) |
RGD |
PMID:15569322 |
RGD:1576428 |
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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G |
Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISO |
DNA:missense mutation:cds:p.V386A (human) |
RGD |
PMID:15569322 |
RGD:1576428 |
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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G |
Cyp2j4 |
cytochrome P450, family 2, subfamily j, polypeptide 4 |
|
ISO IMP |
mRNA:increased expression:placenta, decidua |
RGD |
PMID:23155181, PMID:23155181 |
RGD:7243127, RGD:7243127 |
NCBI chr 5:119,546,458...119,564,843
Ensembl chr 5:119,546,461...119,564,846
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G |
Ddah2 |
dimethylarginine dimethylaminohydrolase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22285683 |
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NCBI chr20:5,049,260...5,052,573
Ensembl chr20:5,049,496...5,052,585
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G |
Ebag9 |
estrogen receptor binding site associated, antigen, 9 |
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ISO |
protein:increased expression:decidua |
RGD |
PMID:17845206 |
RGD:2289846 |
NCBI chr 7:83,564,563...83,582,516
Ensembl chr 7:83,564,563...83,582,508
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G |
Edn1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25230003 |
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NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Edn2 |
endothelin 2 |
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ISO |
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RGD |
PMID:9015697 |
RGD:1580919 |
NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
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G |
Eng |
endoglin |
severity treatment |
ISO IEP IDA |
protein:increased expression:serum (human) protein:increased expression:serum (rat) protein:increased expression:plasma (mouse) |
RGD |
PMID:23460287, PMID:22763474, PMID:22308016, PMID:20351341, PMID:23357179 |
RGD:7248767, RGD:7257530, RGD:7257524, RGD:7248777, RGD:7248768 |
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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G |
Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
|
ISO |
protein:decreased expression:abdominal fascia: |
RGD |
PMID:17469012 |
RGD:9685457 |
NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
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G |
Epas1 |
endothelial PAS domain protein 1 |
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ISO |
|
RGD |
PMID:11159352 |
RGD:1580974 |
NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
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G |
Ephx1 |
epoxide hydrolase 1 |
|
ISO |
DNA:polymorphism CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11283205 PMID:12173035, PMID:11283205 |
RGD:1601064 |
NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
|
RGD |
PMID:9158311 |
RGD:1580990 |
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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G |
Esr2 |
estrogen receptor 2 |
|
ISO |
|
RGD |
PMID:15894829 |
RGD:1581016 |
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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G |
F2 |
coagulation factor II |
severity |
ISO |
DNA:polymorphism: :20210G>A(human) |
RGD |
PMID:16246971 |
RGD:6893628 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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G |
F2r |
coagulation factor II (thrombin) receptor |
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ISO |
|
RGD |
PMID:12161502 |
RGD:1581033 |
NCBI chr 2:26,118,760...26,135,340
Ensembl chr 2:26,118,760...26,135,340
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G |
F3 |
coagulation factor III, tissue factor |
|
ISO |
associated with Fetal Death;protein:increased expression:plasma |
RGD |
PMID:19736615 |
RGD:11340220 |
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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|
G |
F5 |
coagulation factor V |
severity |
ISO |
DNA:mutation: :1691G>A(human) |
RGD |
PMID:16246971 |
RGD:6893628 |
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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|
G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
DNA:SNP:promoter:-670A>G (human) DNA:SNP:promoter:-670A>G(rs1800682)(human) |
RGD |
PMID:15695771, PMID:30066360 |
RGD:12903973, RGD:14700669 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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|
G |
Faslg |
Fas ligand |
susceptibility |
ISO |
DNA:SNP:intron:124A>G(rs5030772)(human) |
RGD |
PMID:30066360 |
RGD:14700669 |
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISS |
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 |
MouseDO |
|
|
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18679377 PMID:28628106, PMID:15472115 |
RGD:1582493 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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|
G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.I105V (human) |
RGD |
PMID:11826024 |
RGD:737707 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197494 |
|
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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|
G |
Hp |
haptoglobin |
severity |
ISO |
protein:increased expression DNA:polymorphism |
RGD |
PMID:17220952, PMID:16879055 |
RGD:1626337, RGD:1626343 |
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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|
G |
Icam1 |
intercellular adhesion molecule 1 |
treatment |
IMP |
|
RGD |
PMID:21830843 |
RGD:8547718 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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|
G |
Ido1 |
indoleamine 2,3-dioxygenase 1 |
|
ISS |
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 |
MouseDO |
|
|
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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|
G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:21126355 |
RGD:6906962 |
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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|
G |
Inhba |
inhibin subunit beta A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17332518 |
|
NCBI chr17:51,894,869...51,919,998
Ensembl chr17:51,898,217...51,912,496
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|
G |
Itga4 |
integrin subunit alpha 4 |
|
IEP |
protein:increased expression:blood, granulocyte (rat) |
RGD |
PMID:10694336 |
RGD:9698441 |
NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
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|
G |
Kiss1 |
KiSS-1 metastasis-suppressor |
|
ISO |
|
RGD |
PMID:16952198 |
RGD:2292128 |
NCBI chr13:50,529,506...50,537,603
Ensembl chr13:50,529,510...50,535,389
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G |
Lep |
leptin |
|
IEP |
protein:decreased expression:plasma |
RGD |
PMID:16021089 |
RGD:5128718 |
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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G |
Lepr |
leptin receptor |
|
IEP |
protein:increased expression:placenta |
RGD |
PMID:16021089 |
RGD:5128718 |
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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G |
Mir152 |
microRNA 152 |
|
IEP |
miRNA:increased expression:placenta |
RGD |
PMID:31114978 |
RGD:21066344 |
NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
mRNA, protein:decreased expression:placenta |
RGD |
PMID:17083831 |
RGD:2290399 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
mRNA, protein:decreased expression:placenta |
RGD |
PMID:17083831, PMID:23776237 |
RGD:2290399, RGD:13204787 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Nos3 |
nitric oxide synthase 3 |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29250138 |
RGD:13504712 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Notch2 |
notch receptor 2 |
|
ISS |
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 |
MouseDO |
|
|
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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|
G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Preeclampsia |
ClinVar |
PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 PMID:21196496 PMID:24412544 PMID:25741868 PMID:26690673 PMID:27834868 PMID:28492532 |
|
NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
ISO IEP |
protein:increased expression:Treg cell |
RGD |
PMID:27277012, PMID:27277012 |
RGD:40886269, RGD:40886269 |
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
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G |
Pde5a |
phosphodiesterase 5A |
|
IMP |
|
RGD |
PMID:18538317 |
RGD:2314465 |
NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576
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G |
Pgf |
placental growth factor |
|
ISO IEP |
|
RGD |
PMID:21756887, PMID:20720407 |
RGD:6483577, RGD:6483779 |
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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G |
Plaur |
plasminogen activator, urokinase receptor |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:21722073 |
RGD:6484119 |
NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
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G |
Pml |
PML nuclear body scaffold |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:20228380 |
RGD:41404689 |
NCBI chr 8:63,002,515...63,034,310
Ensembl chr 8:63,004,870...63,034,226
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
|
RGD |
PMID:15562025 |
RGD:1580687 |
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
|
ISO |
|
RGD |
PMID:9065198 |
RGD:11564336 |
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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|
G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
ISS |
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 |
MouseDO |
|
|
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism:cds:HLA-DQB1*04 (human) |
RGD |
PMID:10960630 |
RGD:36174024 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16555725 |
|
NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
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G |
Serpina1 |
serpin family A member 1 |
|
ISO |
|
RGD |
PMID:1852102 |
RGD:1643155 |
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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G |
Serpine1 |
serpin family E member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:blood: |
CTD |
PMID:18679377, PMID:16952198 |
RGD:2292128 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
Serpinf2 |
serpin family F member 2 |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:1334334 |
RGD:1625535 |
NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
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G |
Stox1 |
storkhead box 1 |
no_association |
ISO |
DNA:missense mutation:cds:p.Y153H (human) CTD Direct Evidence: marker/mechanism human fetally expressed gene in a mouse model |
CTD |
PMID:15806103, PMID:23357179, PMID:17617193 |
RGD:11553888, RGD:7248768, RGD:11553890 |
NCBI chr20:32,276,857...32,353,677
Ensembl chr20:32,276,658...32,353,677
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G |
Tfpi |
tissue factor pathway inhibitor |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:10078579 |
RGD:11060132 |
NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
mRNA, protein:increased expression:placenta |
RGD |
PMID:17083831 |
RGD:2290399 |
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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G |
Tlr3 |
toll-like receptor 3 |
|
IEP |
protein:increased expression:placenta (rat) |
RGD |
PMID:19779466 |
RGD:5128769 |
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:16157088 |
RGD:1580682 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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|
G |
Tnf |
tumor necrosis factor |
|
ISO |
|
RGD |
PMID:15901845 |
RGD:1580314 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
human protein in rat model |
RGD |
PMID:21505354 |
RGD:5131211 |
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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G |
Uts2 |
urotensin 2 |
|
ISO |
|
RGD |
PMID:15866083 |
RGD:1580806 |
NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:16517614 |
RGD:1580566 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
|
OMIM |
|
|
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Stox1 |
storkhead box 1 |
|
ISO |
ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 |
ClinVar OMIM |
PMID:15806103 PMID:17325670 PMID:25741868 |
|
NCBI chr20:32,276,857...32,353,677
Ensembl chr20:32,276,658...32,353,677
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G |
Corin |
corin, serine peptidase |
|
ISO |
ClinVar Annotator: match by term: Preeclampsia/eclampsia 5 |
OMIM ClinVar |
PMID:22437503 PMID:24828501 PMID:25741868 PMID:28492532 |
|
NCBI chr14:38,247,379...38,474,931
Ensembl chr14:38,247,791...38,473,648
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|
|
G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:22534418 |
RGD:6771230 |
NCBI chr10:94,850,971...94,913,202
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G |
Ren |
renin |
|
ISO |
protein:increased activity:blood plasma (human) |
RGD |
PMID:683663 |
RGD:125097480 |
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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G |
Apoe |
apolipoprotein E |
treatment |
IEP |
|
RGD |
PMID:22341339 |
RGD:12904700 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
Angpt2 |
angiopoietin 2 |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma |
RGD |
PMID:15209761 |
RGD:2313816 |
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
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G |
Apoh |
apolipoprotein H |
|
ISO |
|
RGD |
PMID:11795690 |
RGD:2313988 |
NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
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G |
Brcc3 |
BRCA1/BRCA2-containing complex, subunit 3 |
|
ISO |
mRNA:increased expression:embryo: |
RGD |
PMID:18323671 |
RGD:9586066 |
NCBI chr 9:9,863,380...9,865,920
Ensembl chr 9:9,863,404...9,865,920
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G |
Eng |
endoglin |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum |
RGD |
PMID:18985316 |
RGD:2313806 |
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent |
RGD |
PMID:14706681 |
RGD:2315876 |
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
IEP |
associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo |
RGD |
PMID:12716756 |
RGD:2315979 |
NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
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G |
Gc |
GC, vitamin D binding protein |
|
IEP |
protein:decreased expression:plasma |
RGD |
PMID:3948765 |
RGD:2315537 |
NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
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G |
Ghrl |
ghrelin and obestatin prepropeptide |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma |
RGD |
PMID:19046237 |
RGD:2313747 |
NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
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G |
Pappa1 |
pappalysin 1 |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum |
RGD |
PMID:9512318 |
RGD:2313777 |
NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:20129688 |
RGD:7241238 |
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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G |
Vegfa |
vascular endothelial growth factor A |
|
IEP |
protein:decreased expression:plasma, placenta,embryo: |
RGD |
PMID:19048427 |
RGD:7483562 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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G |
Il10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:24717969 |
RGD:11041890 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Ace |
angiotensin I converting enzyme |
|
IEP |
|
RGD |
PMID:17977916 |
RGD:8548898 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Ace2 |
angiotensin I converting enzyme 2 |
|
IEP |
|
RGD |
PMID:17977916 |
RGD:8548898 |
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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G |
Agt |
angiotensinogen |
|
IEP |
|
RGD |
PMID:17977916 |
RGD:8548898 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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G |
Edn1 |
endothelin 1 |
no_association |
ISO |
DNA:transversion:exon:p.K198N rs5370 (human) |
RGD |
PMID:19730395, PMID:11593097 |
RGD:4145063, RGD:4145070 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Hmox1 |
heme oxygenase 1 |
treatment |
IEP |
|
RGD |
PMID:21383306 |
RGD:10755723 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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G |
Hp |
haptoglobin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
|
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to |
CTD ClinVar |
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266 |
|
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Tfpi |
tissue factor pathway inhibitor |
|
IEP |
mRNA:decreased expression:aorta: |
RGD |
PMID:26104991 |
RGD:11062065 |
NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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G |
Tnf |
tumor necrosis factor |
treatment |
IMP |
|
RGD |
PMID:18981324 |
RGD:13825265 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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|
G |
Tle6 |
TLE family member 6, subcortical maternal complex member |
|
ISO |
ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 |
ClinVar OMIM |
PMID:25741868 PMID:26537248 |
|
NCBI chr 7:10,964,136...10,988,127
Ensembl chr 7:10,962,330...10,988,137
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G |
Padi6 |
peptidyl arginine deiminase 6 |
|
ISO |
ClinVar Annotator: match by term: PREIMPLANTATION EMBRYONIC LETHALITY 2 |
ClinVar OMIM |
PMID:27545678 |
|
NCBI chr 5:159,241,276...159,256,749
Ensembl chr 5:159,241,413...159,256,699
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|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Premature birth |
ClinVar |
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396, | |