RGD DISEASE ONTOLOGY - ANNOTATIONS
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.
Term: Pregnancy Complications
Accession: DOID:9004702
browse the term
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; pregnancy disorder
primary_id: MESH:D011248
xref: EFO:0009682
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EPO
erythropoietin
ISO
associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid
RGD
PMID:15502930
RGD:2313897
NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
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FAAH
fatty acid amide hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16886060
NCBI chr 6:165,060,279...165,079,340
Ensembl chr 6:165,060,285...165,079,767
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HSD11B2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932298
NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671
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JAK2
Janus kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19636672
NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
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KLRK1
killer cell lectin like receptor K1
treatment
ISO
associated with Animal Toxoplasmosis
RGD
PMID:28438315
RGD:39128164
NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
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NCOA2
nuclear receptor coactivator 2
ISO
mRNA:decreased expression:uterus (rat)
RGD
PMID:20660062
RGD:5688349
NCBI chr 4:64,888,029...65,245,757
Ensembl chr 4:64,954,238...65,246,572
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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 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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SERPINE1
serpin family E member 1
ISO
DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:10909993
RGD:13208506
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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EMG1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Bowen-Conradi syndrome
OMIM ClinVar
PMID:19463982 PMID:25741868 PMID:28492532
NCBI chr 5:63,746,326...63,751,469
Ensembl chr 5:63,745,476...63,751,469
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FAS
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10716473
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10716473
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18926768
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10716473
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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EPHB4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7
OMIM ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 PMID:30578106 PMID:32267001 PMID:33240318 More...
NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
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MDFIC
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY
ClinVar
PMID:25741868 PMID:35235341
NCBI chr18:31,026,048...31,125,664
Ensembl chr18:31,027,056...31,125,465
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SLC12A9
solute carrier family 12 member 9
ISO
ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:8,696,593...8,712,904
Ensembl chr 3:8,697,439...8,712,918
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AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:22578261
RGD:6767308
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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FAS
Fas cell surface death receptor
ISO
protein:increased expression:villous trophoblast
RGD
PMID:12700199
RGD:12904022
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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IL1A
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21493953
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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IL6
interleukin 6
ISO
protein:increased expression: cervicovaginal fluid : protein:increased expression:plasma associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
RGD
PMID:15547537 PMID:25011638 PMID:25687566
RGD:12791291 RGD:12792243 RGD:5128667
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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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 chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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MBL2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:exon:p.G54D(human)
RGD
PMID:15723707
RGD:12910932
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MMP9
matrix metallopeptidase 9
severity
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12712078
RGD:13204828
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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TGFB1
transforming growth factor beta 1
severity
ISO
protein:increased expression:amniotic fluid
RGD
PMID:19332995
RGD:4145137
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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TNF
tumor necrosis factor
severity no_association
ISO
associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human) associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
RGD
PMID:15128916
RGD:12904055
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TREM1
triggering receptor expressed on myeloid cells 1
ISO
associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid:
RGD
PMID:19591072
RGD:127229904
NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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FGF8
fibroblast growth factor 8
ISO
protein:increased expression:testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
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IGF2
insulin like growth factor 2
disease_progression
ISO
protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR
RGD
PMID:17556377
RGD:2290454
NCBI chr 2:1,469,183...1,496,417
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INSR
insulin receptor
disease_progression
ISO
protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR
RGD
PMID:17556377
RGD:2290454
NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104
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PDGFB
platelet derived growth factor subunit B
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
Ensembl chr 5:8,986,462...9,007,435
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PDGFRB
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
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TIMP3
TIMP metallopeptidase inhibitor 3
ISO
DNA, protein:hypermethylation, decreased expression:promoter, placenta
RGD
PMID:15507671
RGD:2290418
NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581
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RNF135
ring finger protein 135
ISO
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
NCBI chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897
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KCNN4
potassium calcium-activated channel subfamily N member 4
ISO
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
ClinVar
PMID:25741868
NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
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PIEZO1
piezo type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
OMIM ClinVar
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:25741909 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29952828 More...
NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
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FADD
Fas associated via death domain
ISO
RGD
PMID:26419589
RGD:13792560
NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
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IL6
interleukin 6
treatment
ISO
RGD
PMID:27106269
RGD:11062145
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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CRISP3
cysteine-rich secretory protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19282327
NCBI chr 7:43,777,035...43,804,624
Ensembl chr 7:43,777,061...43,804,549
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CDK2
cyclin dependent kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
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CXCL12
C-X-C motif chemokine ligand 12
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:18384776
RGD:2306554
NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,431...91,552,752
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FOXO3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
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GPX4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12566075
NCBI chr 2:77,321,568...77,323,931
Ensembl chr 2:77,320,464...77,323,931
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GRK2
G protein-coupled receptor kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17008600
NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758
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IGF2
insulin like growth factor 2
ISO
DNA:methylation: :
RGD
PMID:18778817
RGD:5509951
NCBI chr 2:1,469,183...1,496,417
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IL18
interleukin 18
ISO
RGD
PMID:21920610
RGD:8655947
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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LCMT1
leucine carboxyl methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17724024
NCBI chr 3:21,548,349...21,593,667
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LIF
LIF interleukin 6 family cytokine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23409146
NCBI chr14:47,221,540...47,239,513
Ensembl chr14:47,221,560...47,238,749
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MAP3K7
mitogen-activated protein kinase kinase kinase 7
ISO
RGD
PMID:22972987
RGD:155663421
NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
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MIR105-2
microRNA mir-105-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr X:123,630,499...123,630,578
Ensembl chr X:123,630,499...123,630,578
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NLRP5
NLR family pyrin domain containing 5
ISO
ClinVar Annotator: match by term: Preimplantation embryonic lethality
ClinVar
NCBI chr 6:60,375,670...60,418,908
Ensembl chr 6:60,379,623...60,409,465
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PARG
poly(ADP-ribose) glycohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15591342
NCBI chr14:90,338,599...90,481,015
Ensembl chr14:90,338,510...90,480,989
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SALL1
spalt like transcription factor 1
ISO
RGD
PMID:11688560
RGD:155641230
NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704
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SALL4
spalt like transcription factor 4
ISO
RGD
PMID:16790473
RGD:155631313
NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190
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SLC31A1
solute carrier family 31 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11391004
NCBI chr 1:253,868,389...253,893,135
Ensembl chr 1:253,868,332...253,894,449
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TAB2
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
ISO
RGD
PMID:22972987
RGD:155663421
NCBI chr 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:22972987
RGD:155663421
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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UBE2N
ubiquitin conjugating enzyme E2 N
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16738225
NCBI chr 5:89,673,306...89,716,345
Ensembl chr 5:89,673,573...89,714,281
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CEP128
centrosomal protein 128
ISO
ClinVar Annotator: match by term: Familial gestational hyperthyroidism
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 7:103,345,978...103,760,323
Ensembl chr 7:103,345,985...103,760,292
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TSHR
thyroid stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Familial gestational hyperthyroidism
ClinVar
PMID:7528344 PMID:8636266 PMID:8681963 PMID:8954020 PMID:8964822 PMID:9329388 PMID:9360555 PMID:9589691 PMID:10560953 PMID:11442002 PMID:12050212 PMID:15693879 PMID:16060907 PMID:16756469 PMID:17526952 PMID:19158199 PMID:19506388 PMID:21490078 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22405933 PMID:22876533 PMID:23329763 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25557138 PMID:25741868 PMID:26709262 PMID:27084275 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:30083029 PMID:30240412 PMID:31356790 More...
NCBI chr 7:103,768,260...103,925,777
Ensembl chr 7:103,768,296...103,925,922
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ACTA1
actin alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence
ClinVar
PMID:25741868 PMID:33060286
NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674
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DOK7
docking protein 7
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 PMID:18165682 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:25033858 PMID:25237101 PMID:25326637 PMID:25557462 PMID:25741868 PMID:26467025 PMID:26583494 PMID:27391121 PMID:28492532 PMID:29054425 PMID:31880392 More...
NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685
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MUSK
muscle associated receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30429133 More...
NCBI chr 1:251,650,151...251,758,538
Ensembl chr 1:251,650,710...251,756,608
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PRG4
proteoglycan 4
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 9:127,463,875...127,481,770
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RYR1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885 More...
NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
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ACP2
acid phosphatase 2, lysosomal
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,334,015...15,342,531
Ensembl chr 2:15,334,001...15,347,770
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ACTA1
actin alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286
NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674
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ADSS1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123
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ALDH5A1
aldehyde dehydrogenase 5 family member A1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:19,351,485...19,375,515
Ensembl chr 7:19,351,361...19,379,098
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ARFGAP2
ADP ribosylation factor GTPase activating protein 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,390,547...15,401,230
Ensembl chr 2:15,390,415...15,401,227
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ASAH1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123
NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821
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ASCC1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123
NCBI chr14:74,975,163...75,109,283
Ensembl chr14:74,975,165...75,083,634
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ASPM
assembly factor for spindle microtubules
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr X:124,318,874...124,357,653
Ensembl chr X:124,301,713...124,357,653
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AVEN
apoptosis and caspase activation inhibitor
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:80,447,337...80,640,120
Ensembl chr 7:80,447,524...80,640,119
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BLTP1
bridge-like lipid transfer protein family member 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 8:101,737,084...101,937,212
Ensembl chr 8:101,737,598...101,937,256
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CHRND
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829
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CNTNAP1
contactin associated protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr12:20,141,222...20,157,341
Ensembl chr12:20,141,641...20,157,044
G
CSTPP1
centriolar satellite-associated tubulin polyglutamylase complex regulator 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,401,150...15,606,626
Ensembl chr 2:15,401,150...15,606,590
G
DDB2
damage specific DNA binding protein 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,342,614...15,370,623
Ensembl chr 2:15,337,743...15,383,120
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DOK7
docking protein 7
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18414213 PMID:18567858 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20603078 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:22884442 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25557462 PMID:25625551 PMID:25741868 PMID:25849006 PMID:26436962 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28024842 PMID:28492532 PMID:28508085 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31618753 PMID:31880392 PMID:32331917 PMID:33146414 PMID:33756069 PMID:36099689 PMID:36579833 More...
NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685
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DQX1
DEAQ-box RNA dependent ATPase 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 3:68,523,859...68,530,804
Ensembl chr 3:68,523,974...68,531,064
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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
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EARS2
glutamyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr 3:22,654,351...22,684,246
Ensembl chr 3:22,657,766...22,684,241
G
EXOSC3
exosome component 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 PMID:28492532 PMID:30221345 More...
NCBI chr 1:238,536,341...238,541,756
Ensembl chr 1:238,536,345...238,541,333
G
FBLN1
fibulin 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,502...3,927,183
G
FBN2
fibrillin 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25558065
NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,881
G
GBE1
1,4-alpha-glucan branching enzyme 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,914,756
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GCN1
GCN1 activator of EIF2AK4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr14:40,151,415...40,218,183
Ensembl chr14:40,146,472...40,218,107
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GFRA4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr17:32,040,183...32,044,396
Ensembl chr17:32,040,235...32,046,105
G
GLDN
gliomedin
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041
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IQSEC3
IQ motif and Sec7 domain ArfGEF 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 5:67,445,839...67,540,488
Ensembl chr 5:67,445,838...67,540,485
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LGI4
leucine rich repeat LGI family member 4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 6:44,655,621...44,663,874
Ensembl chr 6:44,655,619...44,663,234
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LRP4
LDL receptor related protein 4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,616,137...15,672,876
Ensembl chr 2:15,616,131...15,672,874
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MADD
MAP kinase activating death domain
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,270,783...15,315,459
Ensembl chr 2:15,270,789...15,315,477
G
MAGI3
membrane associated guanylate kinase, WW and PDZ domain containing 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 4:106,880,617...107,120,043
Ensembl chr 4:106,882,435...107,120,035
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MUSK
muscle associated receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
OMIM ClinVar
PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20371544 PMID:23326516 PMID:24122059 PMID:24183479 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25640679 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:28518170 PMID:29663639 PMID:29704306 PMID:30429133 PMID:30719842 PMID:31750350 PMID:31920924 PMID:31974414 PMID:32253145 PMID:32453097 PMID:32732226 PMID:35587316 More...
NCBI chr 1:251,650,151...251,758,538
Ensembl chr 1:251,650,710...251,756,608
G
MYBPC3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104
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NAGA
alpha-N-acetylgalactosaminidase
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 5:6,580,141...6,587,550
Ensembl chr 5:6,571,020...6,588,055
G
NALCN
sodium leak channel, non-selective
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:27214504 PMID:31680123
NCBI chr11:69,710,355...70,023,020
Ensembl chr11:69,710,364...70,022,727
G
NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27793025 PMID:28492532 PMID:31159747 PMID:31891871 PMID:33471991 More...
NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
G
NR1H3
nuclear receptor subfamily 1 group H member 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820
G
PACSIN3
protein kinase C and casein kinase substrate in neurons 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,380,297...15,389,893
Ensembl chr 2:15,381,707...15,389,887
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PIEZO2
piezo type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123 More...
NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456
G
PRG4
proteoglycan 4
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 9:127,463,875...127,481,770
G
PRICKLE1
prickle planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430
G
PSMC3
proteasome 26S subunit, ATPase 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,185,482...15,191,189
Ensembl chr 2:15,166,306...15,193,047
G
ROR2
receptor tyrosine kinase like orphan receptor 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr14:2,803,840...3,035,384
Ensembl chr14:2,804,061...3,035,296
G
RYR1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885 More...
NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
G
RYR3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
G
SCN4A
sodium voltage-gated channel alpha subunit 4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582
G
SCN5A
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755
G
SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
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SETBP1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123 PMID:34782754 More...
NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017
G
SLC39A13
solute carrier family 39 member 13
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425
G
SPAG16
sperm associated antigen 16
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr15:115,809,152...116,760,976
Ensembl chr15:115,809,187...116,761,791
G
SPI1
Spi-1 proto-oncogene
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 2:15,227,850...15,245,679
Ensembl chr 2:15,227,881...15,245,677
G
SVEP1
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:28492532
NCBI chr 1:251,367,401...251,571,799
Ensembl chr 1:251,368,845...251,571,415
G
TMPO
thymopoietin
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,290...85,346,538
G
TXN
thioredoxin
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:28492532
NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988
G
TXNDC8
thioredoxin domain containing 8
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:28492532
NCBI chr 1:251,312,120...251,340,761
Ensembl chr 1:251,311,119...251,340,988
G
UNC50
unc-50 inner nuclear membrane RNA binding protein
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 3:55,667,821...55,676,995
Ensembl chr 3:55,667,826...55,676,978
G
VPS13D
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058
G
ZEB2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
G
DOCK7
dedicator of cytokinesis 7
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3
ClinVar
PMID:25741868
NCBI chr 6:149,745,375...149,971,853
Ensembl chr 6:149,748,036...149,972,168
G
DOK7
docking protein 7
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3
OMIM ClinVar
PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 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:30266093 PMID:31618753 PMID:31880392 PMID:33146414 PMID:33756069 More...
NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685
G
NUP88
nucleoporin 88
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4
OMIM ClinVar
PMID:25741868 PMID:30543681
NCBI chr12:51,562,455...51,603,095
Ensembl chr12:51,562,440...51,601,968
G
RABEP1
rabaptin, RAB GTPase binding effector protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4
ClinVar
PMID:25741868
NCBI chr12:51,602,228...51,868,180
Ensembl chr12:51,602,226...51,858,206
G
ANK3
ankyrin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chr14:63,416,154...63,809,220
G
APOE
apolipoprotein E
ISO
RGD
PMID:15007105
RGD:12904641
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
G
BPIFA1
BPI fold containing family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15513904
NCBI chr17:36,754,498...36,761,622
Ensembl chr17:36,754,498...36,761,621
G
CAT
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26074427
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
G
CRHR1
corticotropin releasing hormone receptor 1
sexual_dimorphism
ISO
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)
RGD
PMID:29251811
RGD:401965484
NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
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DNMT1
DNA methyltransferase 1
ISO
mRNA,protein:increased expression:Pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
G
DNMT3B
DNA methyltransferase 3 beta
ISO
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072
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DRD2
dopamine receptor D2
ISO
DNA:Hypermethylation:promoter mRNA:decreased expression: pituitary gland (rat)
RGD
PMID:26509893 PMID:28710248
RGD:11344152 RGD:401960105
NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
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EHMT2
euchromatic histone lysine methyltransferase 2
ISO
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,993,478
G
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
mRNA:increased expression:posterior hypothalamic region (rat)
RGD
PMID:18514412
RGD:402528884
NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,632...61,543,361
G
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
treatment
ISO
RGD
PMID:22037411 PMID:23763370
RGD:13210751 RGD:13432044
NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558
G
HDAC2
histone deacetylase 2
ISO
mRNA,protein:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
G
HDAC4
histone deacetylase 4
ISO
mRNA,protein:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301
G
HSD11B2
hydroxysteroid 11-beta dehydrogenase 2
ISO
protein:increased expression:placenta (rat)
RGD
PMID:26342748
RGD:401965481
NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671
G
IGF1
insulin like growth factor 1
ISO
mRNA:decreased expression:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
G
IGF1R
insulin like growth factor 1 receptor
ISO
protein:decreased activity:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
G
MAT2A
methionine adenosyltransferase 2A
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr 3:59,220,203...59,225,097
Ensembl chr 3:59,218,688...59,225,249
G
MECP2
methyl-CpG binding protein 2
ISO
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr X:124,735,523...124,789,063
Ensembl chr X:124,735,656...124,738,659
G
MIR326
microRNA mir-326
ISO
miRNA:increases expression:pituitary gland (rat)
RGD
PMID:28710248
RGD:401960105
NCBI chr 9:9,581,944...9,582,034
Ensembl chr 9:9,581,944...9,582,034
G
MIR7-1
microRNA mir-7-1
ISO
miRNA:increased expression:pituitary gland (rat)
RGD
PMID:28710248
RGD:401960105
NCBI chr 1:191,218,565...191,218,648
Ensembl chr 1:191,218,565...191,218,648
G
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763
G
NOS1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25511929
NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
G
NR3C1
nuclear receptor subfamily 3 group C member 1
sexual_dimorphism
ISO
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) associated with adrenalectomy, chronic stress, female; mRNA:increased expression:prefrontal cortex (rat)
RGD
PMID:29251811 PMID:30367959
RGD:401965484 RGD:401966864
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
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NR3C2
nuclear receptor subfamily 3 group C member 2
sexual_dimorphism
ISO
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)
RGD
PMID:29251811
RGD:401965484
NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412
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OPRK1
opioid receptor kappa 1
ISO
DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex
RGD
PMID:29678771
RGD:401851055
NCBI chr 4:77,399,298...77,429,025
Ensembl chr 4:77,399,183...77,426,879
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OPRL1
opioid related nociceptin receptor 1
ISO
mRNA:decreased expression:ventral tegmental area
RGD
PMID:29678771
RGD:401851055
NCBI chr17:62,905,700...62,913,018
Ensembl chr17:62,905,082...62,913,754
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PDYN
prodynorphin
ISO
DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens
RGD
PMID:29678771
RGD:401851055
NCBI chr17:33,505,075...33,521,534
Ensembl chr17:33,505,079...33,521,532
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PNOC
prepronociceptin
ISO
mRNA:increased expression:nucleus accumbens
RGD
PMID:29678771
RGD:401851055
NCBI chr14:12,101,223...12,134,174
Ensembl chr14:12,101,698...12,133,778
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PRL
prolactin
ISO
mRNA, protein:increased expression:pituitary gland, blood plasma (rat) mRNA,protein:increased expression:pituitary gland, blood plasma (rat)
RGD
PMID:26509893 PMID:28710248
RGD:11344152 RGD:401960105
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
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PTEN
phosphatase and tensin homolog
ISO
Protein:increased expression, increased activity:cerebellum (rat)
RGD
PMID:12700235
RGD:12801493
NCBI chr14:99,929,590...100,021,619
G
RPS6KA1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chr 6:83,905,124...83,947,189
Ensembl chr 6:83,905,077...83,950,963
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SETD7
SET domain containing 7, histone lysine methyltransferase
ISO
mRNA:decreased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 8:87,478,266...87,527,190
Ensembl chr 8:87,478,173...87,527,188
G
SLC6A4
solute carrier family 6 member 4
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
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RHOA
ras homolog family member A
ISO
protein:increased activation:neuron, cerebellum
RGD
PMID:17109064
RGD:2298867
NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:11085286
RGD:11038921
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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AHSP
alpha hemoglobin stabilizing protein
ISO
mRNA, protein:decreased expression:placenta (human)
RGD
PMID:18347943
RGD:329956422
NCBI chr 3:17,059,340...17,060,343
Ensembl chr 3:17,059,333...17,065,749
G
ATR
ATR serine/threonine kinase
ISO
RGD
PMID:15282542
RGD:150340675
NCBI chr13:83,175,515...83,289,986
Ensembl chr13:83,174,824...83,289,989
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F5
coagulation factor V
no_association
ISO
RGD
PMID:14706682
RGD:1580130
NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
G
GRHL3
grainyhead like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6635991
NCBI chr 6:82,014,022...82,050,240
Ensembl chr 6:82,013,969...82,050,236
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HSPD1
heat shock protein family D (Hsp60) member 1
ISO
RGD
PMID:20393889
RGD:12910472
NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526
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LPAR1
lysophosphatidic acid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11087877
NCBI chr 1:251,811,583...251,979,828
Ensembl chr 1:251,811,584...251,979,159
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29255069
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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OXT
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:5067144
NCBI chr17:32,605,586...32,606,449
Ensembl chr17:32,605,586...32,606,546
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PDGFRA
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11023856
NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441
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RDH10
retinol dehydrogenase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27793605
NCBI chr 4:62,569,877...62,600,981
Ensembl chr 4:62,569,885...62,601,439
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TFPI
tissue factor pathway inhibitor
ISO
associated with Hemorrhage;
RGD
PMID:9242522
RGD:11060259
NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
associated with Endotoxemia; human protein in rat model
RGD
PMID:21187445
RGD:5131261
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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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
NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,315,141...111,351,868
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NOS2
nitric oxide synthase 2
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:19283362
RGD:2313217
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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PRKCB
protein kinase C beta
ISO
associated with Diabetes Mellitus, Experimental;protein:increased expression
RGD
PMID:15496608
RGD:1625524
NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264
G
PRSS8
serine protease 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705055
NCBI chr 3:17,357,793...17,362,223
Ensembl chr 3:17,357,802...17,362,220
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CHUK
component of inhibitor of nuclear factor kappa B kinase complex
ISO
ClinVar Annotator: match by term: Cocoon syndrome
OMIM ClinVar
PMID:20961246
NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,315,141...111,351,868
G
ERMAP
erythroblast membrane associated protein
ISO
ClinVar Annotator: match by term: Radin blood group
ClinVar
PMID:12393480
NCBI chr 6:168,596,522...168,643,437
Ensembl chr 6:168,595,907...168,621,952
G
POLR1C
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Fetal Erythroblastosis
ClinVar
NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943
G
SLC14A1
solute carrier family 14 member 1
ISO
ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM
ClinVar
NCBI chr 1:95,354,848...95,381,492
Ensembl chr 1:95,355,016...95,381,489
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SLC29A1
solute carrier family 29 member 1
ISO
ClinVar Annotator: match by term: Fetal Erythroblastosis
ClinVar
NCBI chr 7:39,217,974...39,234,683
Ensembl chr 7:39,218,051...39,234,685
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ABCB1
ATP-binding cassette, sub-family B (MDR/TAP), member 1
ISO
mRNA:increased expression:placenta
RGD
PMID:16225763
RGD:2306659
NCBI chr 9:93,049,955...93,146,469
G
ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:24847689
RGD:12879387
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
G
ACTA2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
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ADIPOQ
adiponectin, C1Q and collagen domain containing
treatment
ISO
RGD
PMID:23533720
RGD:8695947
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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ADIPOR2
adiponectin receptor 2
treatment
ISO
RGD
PMID:23533720
RGD:8695947
NCBI chr 5:68,755,789...68,807,247
Ensembl chr 5:68,755,811...68,807,235
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AGT
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:kidney,urine:
RGD CTD
PMID:17537837 PMID:20530295 PMID:26270574
RGD:11538508 RGD:13432363
NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
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AGTR1
angiotensin II receptor type 1
ISO
RGD
PMID:21303825
RGD:5129179
NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:21303825
RGD:5129179
NCBI chr X:95,267,709...95,272,237
Ensembl chr X:95,269,300...95,270,388
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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 chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215
G
ANAPC2
anaphase promoting complex subunit 2
ISO
protein:increased expression:serum (human)
RGD
PMID:25724728
RGD:14696679
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APOE
apolipoprotein E
ISO
mRNA:increased expression:adrenal gland (rat)
RGD
PMID:19923365
RGD:4891147
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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APOH
apolipoprotein H
ISO
RGD
PMID:24642748
RGD:10054118
NCBI chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
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ARG1
arginase 1
ISO
RNA:increased expression:thoracic aorta:
RGD
PMID:29741931
RGD:13792602
NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988
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ATP5F1A
ATP synthase F1 subunit alpha
ISO
protein:increased expression:retroperitoneal fat pad (rat)
RGD
PMID:26633942
RGD:13703049
NCBI chr 1:95,738,789...95,750,835
Ensembl chr 1:95,733,090...95,750,841
G
ATP5F1B
ATP synthase F1 subunit beta
ISO
protein:decreased expression:liver (rat)
RGD
PMID:26342040
RGD:13782135
NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:22932950
RGD:10054114
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:22932950
RGD:10054114
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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BMP4
bone morphogenetic protein 4
ISO
RGD
PMID:22710965
RGD:9068402
NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
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CACNA1C
calcium voltage-gated channel subunit alpha1 C
ISO
protein:decreased expression:pancreas (rat)
RGD
PMID:20873977
RGD:152985538
NCBI chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,448,430
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CACNA1D
calcium voltage-gated channel subunit alpha1 D
ISO
protein:decreased expression:pancreas (rat)
RGD
PMID:20873977
RGD:152985538
NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662
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CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
RGD
PMID:3973436
RGD:2303532
NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492
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CASP3
caspase 3
treatment
ISO
RGD
PMID:22932950
RGD:10054114
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
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CFP
complement factor properdin
ISO
mRNA:decreased expression:placenta
RGD
PMID:20008130
RGD:7488901
NCBI chr X:42,157,980...42,174,964
Ensembl chr X:42,157,988...42,174,951
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COL2A1
collagen type II alpha 1 chain
ISO
mRNA:decreased expression:distal epiphyseal plate of femur (rat)
RGD
PMID:22995397
RGD:8661261
NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718
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COMT
catechol-O-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23667712
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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CPS1
carbamoyl-phosphate synthase 1
ISO
RGD
PMID:3973436
RGD:2303532
NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078
G
CTH
cystathionine gamma-lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,454,914...142,486,367
G
CYP11A1
cytochrome P450 family 11 subfamily A member 1
ISO
mRNA:increased expression:adrenal gland, maternal (rat)
RGD
PMID:17881205
RGD:4832477
NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
G
CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
mRNA:increased expression:placenta
RGD
PMID:16225763 PMID:17706398 PMID:18442069
RGD:11576311 RGD:11576317 RGD:2306659
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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DDX23
DEAD-box helicase 23
ISO
ClinVar Annotator: match by term: Intrauterine growth retardation
ClinVar
PMID:25741868 PMID:34050707
NCBI chr 5:14,888,951...14,909,741
Ensembl chr 5:14,888,958...14,899,174
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DES
desmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423
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DLK1
delta like non-canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27776119
NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654
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DNMT1
DNA methyltransferase 1
ISO
mRNA:increased expression:adrenal gland: mRNA,protein:decreased expression:hippocampus: mRNA:decreased expression:kidney:
RGD
PMID:12869365 PMID:16380407 PMID:24717552
RGD:9588242 RGD:9588619 RGD:9590296
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
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DNMT3B
DNA methyltransferase 3 beta
ISO
mRNA:increased expression:adrenal gland:
RGD
PMID:24717552
RGD:9590296
NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072
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DUSP1
dual specificity phosphatase 1
ISO
RGD
PMID:12487923
RGD:7771581
NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
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DUSP5
dual specificity phosphatase 5
ISO
RGD
PMID:16940436
RGD:2317872
NCBI chr14:120,906,340...120,919,398
Ensembl chr14:120,906,343...120,919,384
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DYNC2H1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Intrauterine growth restriction
ClinVar
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 More...
NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188
G
ESRRG
estrogen related receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35220427
NCBI chr10:6,710,615...7,371,419
Ensembl chr10:6,712,860...6,941,501
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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 chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FASLG
Fas ligand
severity
ISO
associated with protein:increased expression:serum: protein:increased expression:amniotic fluid:
RGD
PMID:16169656 PMID:23582102
RGD:12903972 RGD:12904025
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
G
FTO
FTO alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:decreased expression:placenta mRNA:decreased expression:chorionic villus
RGD
PMID:25054679
RGD:329955538
NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718
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G6PC1
glucose-6-phosphatase catalytic subunit 1
ISO
mRNA, protein:decreased expression:liver (rat) mRNA:increased expression:liver
RGD
PMID:15448092 PMID:23744881
RGD:14695550 RGD:2315963
NCBI chr12:19,965,885...19,975,783
Ensembl chr12:19,965,330...19,975,857
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GHRL
ghrelin and obestatin prepropeptide
disease_progression
ISO
RGD
PMID:20637157
RGD:12904883
NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
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GHSR
growth hormone secretagogue receptor
disease_progression
ISO
RGD
PMID:20637157
RGD:12904883
NCBI chr13:110,981,465...111,006,149
Ensembl chr13:110,983,298...111,038,324
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GLUD1
glutamate dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19500843
NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520
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GRIA1
glutamate ionotropic receptor AMPA type subunit 1
ISO
protein:decreased expression:cerebral cortical neuron (rat)
RGD
PMID:20398734
RGD:4107070
NCBI chr16:69,332,786...69,654,366
Ensembl chr16:69,332,587...69,655,380
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
ISO
protein:decreased expression:cerebral cortical neuron (rat)
RGD
PMID:20398734
RGD:4107070
NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499
G
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
treatment
ISO
RGD
PMID:20423831
RGD:13210763
NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558
G
HADHA
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
mRNA:decreased expression
RGD
PMID:11124150
RGD:1599884
NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,733
G
HDAC1
histone deacetylase 1
ISO
mRNA:increased expression:adrenal gland: protein:decreased expression, decreased activity:hippocampus:
RGD
PMID:16380407 PMID:18464933 PMID:24717552
RGD:2311214 RGD:9588242 RGD:9590296
NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411
G
HDAC2
histone deacetylase 2
ISO
mRNA:increased expression:adrenal gland:
RGD
PMID:24717552
RGD:9590296
NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
G
HNF4A
hepatocyte nuclear factor 4 alpha
ISO
DNA:altered methylation:prompter:
RGD
PMID:20126273
RGD:12904699
NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500
G
HSD11B2
hydroxysteroid 11-beta dehydrogenase 2
ISO
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney
RGD
PMID:17272666
RGD:2308941
NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671
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IGF1
insulin like growth factor 1
onset treatment
ISO
mRNA:decreased expression:liver protein:decreased expression:placenta labyrinth (rat) human protein in a rat model
RGD
PMID:9284279 PMID:15506645 PMID:19088829 PMID:24239160
RGD:12904720 RGD:12910460 RGD:1600258 RGD:2306715
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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IGF1R
insulin like growth factor 1 receptor
onset
ISO
protein:increased expression:liver, lung (rat) protein:decreased expression:placenta labyrinth (rat) DNA:point mutation:exon:p.R108Q, p.K115N (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12536576 PMID:14657428 PMID:24239160
RGD:12904720 RGD:12904724 RGD:1624299
NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
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IGF2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism mRNA:altered expresssion:liver,placenta:
CTD RGD
PMID:1408464 PMID:12087403 PMID:16040806
RGD:14985247
NCBI chr 2:1,469,183...1,496,417
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IGF2R
insulin like growth factor 2 receptor
ISO
mRNA:increased expresssion:fetus:
RGD
PMID:1408464
RGD:14985247
NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548
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IGFBP3
insulin like growth factor binding protein 3
treatment
ISO
protein:increased expression:Amniotic fluid: protein:decreased expression:serum: mRNA:increased expression:placenta: protein:increased expression:brain DNA:hypermethylation:promoter:
RGD
PMID:15506645 PMID:16923367 PMID:19217707 PMID:19591553 PMID:21823995 PMID:21924014 More...
RGD:10402581 RGD:12743583 RGD:12743585 RGD:12743590 RGD:12743599 RGD:1600258
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
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IL1A
interleukin 1 alpha
ISO
mRNA:increased expression:placenta
RGD
PMID:11005132
RGD:2311066
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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IRS1
insulin receptor substrate 1
ISO
mRNA,protein:decreased expression:growth plate:
RGD
PMID:22995397
RGD:8661261
NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,307,284
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IRS2
insulin receptor substrate 2
ISO
RGD
PMID:20720385
RGD:7257699
NCBI chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881
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LEP
leptin
ISO
RGD
PMID:21353474
RGD:5128507
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LOC100519098
sterile alpha motif domain-containing protein 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27182967
NCBI chr 9:72,965,088...72,999,261
Ensembl chr 9:72,964,869...72,999,258
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MDM2
MDM2 proto-oncogene
ISO
mRNA:decreased expression:cerebrum (rat)
RGD
PMID:15563574
RGD:2317395
NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739
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MECP2
methyl-CpG binding protein 2
ISO
mRNA,protein:decreased expression:hippocampus:
RGD
PMID:16380407
RGD:9588242
NCBI chr X:124,735,523...124,789,063
Ensembl chr X:124,735,656...124,738,659
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MMP2
matrix metallopeptidase 2
ISO
DNA:SNP:promoter:-1306C>T (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17367869 PMID:28157488
RGD:13204803
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MTHFD1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility
ISO
DNA:SNP:cds:1958G>A(human) DNA:SNP: :401A>G(human)
RGD
PMID:18771981 PMID:22378735 PMID:25118499
RGD:12910955 RGD:12910958 RGD:12914148
NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,387
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MUC1
mucin 1, cell surface associated
ISO
RGD
PMID:19287349
RGD:7349369
NCBI chr 4:94,626,317...94,631,194
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MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:19287349
RGD:7349369
NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330
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MUC4
mucin 4, cell surface associated
ISO
RGD
PMID:19287349
RGD:7349369
NCBI chr13:134,192,412...134,248,435
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NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
protein:decreased expression:placenta
RGD
PMID:23910525 PMID:25171874
RGD:10412716 RGD:26884462
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NOS1
nitric oxide synthase 1
ISO
associated with hyperinsulinemia; protein:decreased expression:placenta
RGD
PMID:19709742
RGD:5132592
NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
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NOS2
nitric oxide synthase 2
ISO
associated with hyperinsulinemia; protein:increased expression:placenta
RGD
PMID:19709742
RGD:5132592
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NOS3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism associated with hyperinsulinemia; protein:decreased expression:placenta RNA, protein:increased expression:thoracic aorta:
CTD RGD
PMID:19709742 PMID:22421449 PMID:23667712 PMID:29741931
RGD:13792602 RGD:5132592
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney
RGD
PMID:17272666 PMID:20388836
RGD:2308941 RGD:4892120
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
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ORC1
origin recognition complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21358633
NCBI chr 6:159,819,302...159,852,306
Ensembl chr 6:159,819,339...159,852,305
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OTC
ornithine transcarbamylase
ISO
mRNA:altered expression:liver (rat)
RGD
PMID:8929856
RGD:4144077
NCBI chr X:34,322,398...34,391,711
Ensembl chr X:34,322,298...34,391,821
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PCK1
phosphoenolpyruvate carboxykinase 1
ISO
mRNA:decreased expression:liver:
RGD
PMID:12538794
RGD:10448276
NCBI chr17:57,930,507...57,936,523
Ensembl chr17:57,930,432...57,936,522
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PDGFA
platelet derived growth factor subunit A
ISO
mRNA:increased expression:placenta
RGD
PMID:11005132
RGD:2311066
NCBI chr 3:296,399...322,967
Ensembl chr 3:301,584...321,712
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PDGFB
platelet derived growth factor subunit B
ISO
mRNA:increased expression:placenta
RGD
PMID:11005132
RGD:2311066
Ensembl chr 5:8,986,462...9,007,435
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PDX1
pancreatic and duodenal homeobox 1
ISO
mRNA:decreased expression:pancreas (rat) mRNA:decreased expression:pancreatic islet
RGD
PMID:12606515 PMID:18464933
RGD:2311214 RGD:2311220
NCBI chr11:5,303,609...5,309,063
Ensembl chr11:5,303,609...5,309,063
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PPARG
peroxisome proliferator activated receptor gamma
ISO
mRNA:decreased expression:lung (rat)
RGD
PMID:21425435
RGD:8552971
NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
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PPARGC1A
PPARG coactivator 1 alpha
ISO
mRNA, protein:increased expression:liver (rat)
RGD
PMID:18433551
RGD:10059649
NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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PRDX6
peroxiredoxin 6
ISO
protein:decreased expression:placenta
RGD
PMID:25171874
RGD:26884462
NCBI chr 9:115,857,629...115,868,898
Ensembl chr 9:115,857,644...115,868,892
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PTGER3
prostaglandin E receptor 3
ISO
mRNA, protein:increased expression:placenta (rat)
RGD
PMID:15990166
RGD:10043194
NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney
RGD
PMID:17272666
RGD:2308941
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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PTPN11
protein tyrosine phosphatase non-receptor type 11
treatment
ISO
with postnatal growth restriction
RGD
PMID:19491300
RGD:12743586
NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
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RBP1
retinol binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr13:80,380,958...80,407,328
Ensembl chr13:80,380,962...80,407,458
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REN
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17537837
NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
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SERPINE1
serpin family E member 1
ISO
associated with Pre-Eclampsia;protein:increased expression:plasma,placenta:
RGD
PMID:8018914
RGD:13208595
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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SIN3A
SIN3 transcription regulator family member A
ISO
RGD
PMID:18464933
RGD:2311214
NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,167...58,245,971
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SLC2A2
solute carrier family 2 member 2
ISO
mRNA, protein:decreased expression:liver
RGD
PMID:9886959
RGD:12879480
NCBI chr13:109,592,595...109,614,105
Ensembl chr13:109,587,258...109,638,510
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SLC2A3
solute carrier family 2 member 3
ISO
protein:increased expression:placenta
RGD
PMID:11738800
RGD:730192
NCBI chr 5:62,963,635...63,041,955
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SLC38A2
solute carrier family 38 member 2
ISO
mRNA, protein:decreased expression:placenta
RGD
PMID:21812961
RGD:9999212
NCBI chr 5:77,113,491...77,127,715
Ensembl chr 5:77,113,494...77,127,650
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SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21893188
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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SREBF1
sterol regulatory element binding transcription factor 1
ISO
RGD
PMID:19017816
RGD:2308805
NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,267
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STAR
steroidogenic acute regulatory protein
ISO
mRNA:increased expression:adrenal gland, maternal (rat)
RGD
PMID:17881205
RGD:4832477
NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462
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TFF3
trefoil factor 3
ISO
RGD
PMID:19287349
RGD:7349369
NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,641,038...205,644,333
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UNC13A
unc-13 homolog A
ISO
RGD
PMID:18787382
RGD:5686390
NCBI chr 2:60,057,926...60,130,015
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VDR
vitamin D receptor
ISO
mRNA,protein:decreased expression:placenta:
RGD
PMID:25716068
RGD:11058690
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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XDH
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Intrauterine growth restriction
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392
NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169
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CRH
corticotropin releasing hormone
ISO
protein:increased expression:paraventricular nucleus of hypothalamus (rat)
RGD
PMID:19409200
RGD:5491006
NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,484,053...68,486,121
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CRHR1
corticotropin releasing hormone receptor 1
ISO
protein:increased expression:paraventricular nucleus of hypothalamus (rat)
RGD
PMID:19409200
RGD:5491006
NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
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CRHR2
corticotropin releasing hormone receptor 2
ISO
protein:decreased expression:paraventricular nucleus of hypothalamus (rat)
RGD
PMID:19409200
RGD:5491006
NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467
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EGR1
early growth response 1
ISO
RGD
PMID:23427086
RGD:10395301
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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MMP1
matrix metallopeptidase 1
ISO
protein:altered expression:heart (rat)
RGD
PMID:21856922
RGD:7207283
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
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MMP13
matrix metallopeptidase 13
ISO
protein:increased expression:heart (rat)
RGD
PMID:21856922
RGD:7207283
NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162
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NOS1
nitric oxide synthase 1
ISO
RGD
PMID:17310378
RGD:1642145
NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
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IL6
interleukin 6
ISO
associated with Premature Birth;
RGD
PMID:24832219
RGD:12801490
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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HNF4A
hepatocyte nuclear factor 4 alpha
ISO
DNA:mutations: :
RGD
PMID:17407387 PMID:19435144
RGD:12904698 RGD:12904767
NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500
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IGF1
insulin like growth factor 1
ISO
protein:increased expression:serum:
RGD
PMID:17113804
RGD:12743591
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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IGFBP3
insulin like growth factor binding protein 3
ISO
protein:increased expression:serum:
RGD
PMID:17113804
RGD:12743591
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
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LIPC
lipase C, hepatic type
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
RGD
PMID:10600655
RGD:2308786
NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963
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COL1A1
collagen type I alpha 1 chain
ISO
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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COL1A2
collagen type I alpha 2 chain
ISO
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
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MAOA
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22340208
NCBI chr X:38,930,452...39,006,220
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NPHS2
NPHS2 stomatin family member, podocin
ISO
associated with maternal low protein diet; protein:decreased expression:kidney (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr 9:121,217,734...121,236,214
Ensembl chr 9:121,218,369...121,236,430
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ZEB2
zinc finger E-box binding homeobox 2
ISO
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
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APOH
apolipoprotein H
ISO
RGD
PMID:24642748
RGD:10054118
NCBI chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
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PRL
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3816235
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
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PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20083845
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
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ADIPOQ
adiponectin, C1Q and collagen domain containing
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:serum
CTD RGD
PMID:15126557 PMID:19626510 PMID:23608331
RGD:2313236 RGD:8695950
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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AHSG
alpha 2-HS glycoprotein
ISO
protein:increased expression:serum
RGD
PMID:12153747
RGD:2313814
NCBI chr13:124,426,313...124,438,848
Ensembl chr13:124,426,308...124,438,840
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ANGPTL6
angiopoietin like 6
ISO
protein:increased expression:blood serum,umbilical artery (human)
RGD
PMID:35876300
RGD:329845845
NCBI chr 2:68,947,067...68,958,820
Ensembl chr 2:68,947,071...68,958,766
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APOD
apolipoprotein D
ISO
RGD
PMID:6828336
RGD:2311180
NCBI chr13:132,514,546...132,562,594
Ensembl chr13:132,514,949...132,562,599
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AR
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20421132
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
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ATP2B1
ATPase plasma membrane Ca2+ transporting 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 5:92,935,688...93,061,406
Ensembl chr 5:92,935,694...93,061,405
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ATP2B2
ATPase plasma membrane Ca2+ transporting 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr X:124,318,874...124,357,653
Ensembl chr X:124,301,713...124,357,653
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ATP2B4
ATPase plasma membrane Ca2+ transporting 4
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 9:64,336,354...64,445,669
Ensembl chr 9:64,336,499...64,445,663
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BNIP3L
BCL2 interacting protein 3 like
ISO
RGD
PMID:26512955
RGD:11564338
NCBI chr14:10,318,688...10,345,689
Ensembl chr14:10,318,732...10,345,679
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C14H12orf43
chromosome 14 C12orf43 homolog
ISO
ClinVar Annotator: match by term: Gestational diabetes
ClinVar
PMID:9562352 PMID:35299962
NCBI chr14:40,888,642...40,899,097
Ensembl chr14:40,886,053...40,899,037
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CALB1
calbindin 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 4:46,701,276...46,723,548
Ensembl chr 4:46,701,045...46,725,197
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CCL2
chemokine (C-C motif) ligand 2
ISO
RGD
PMID:18702087
RGD:2306986
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34175429
NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
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CDKAL1
CDK5 regulatory subunit associated protein 1 like 1
ISO
DNA:snp: :rs7756992,rs7754840(human)
RGD
PMID:19002430
RGD:2313946
NCBI chr 7:15,910,645...16,569,643
Ensembl chr 7:15,910,666...16,626,276
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CYP19A3
cytochrome P450 19A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20421132
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
mRNA:increased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
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CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
mRNA:increased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
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CYP2R1
cytochrome P450 family 2 subfamily R member 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,334
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DCN
decorin
ISO
RGD
PMID:16630654
RGD:2311413
NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,682,658...91,714,235
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DNAH8
dynein axonemal heavy chain 8
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 7:34,197,185...34,479,640
Ensembl chr 7:34,188,145...34,479,623
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FGF2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20421132
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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FOXM1
forkhead box M1
ISO
RGD
PMID:19833884
RGD:2315927
NCBI chr 5:67,246,219...67,263,215
Ensembl chr 5:67,245,694...67,263,211 Ensembl chr 5:67,245,694...67,263,211
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G6PC1
glucose-6-phosphatase catalytic subunit 1
ISO
protein:increased activity:liver
RGD
PMID:12595588
RGD:2315965
NCBI chr12:19,965,885...19,975,783
Ensembl chr12:19,965,330...19,975,857
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GAD2
glutamate decarboxylase 2
ISO
RGD
PMID:18588707
RGD:2313295
NCBI chr10:49,316,682...49,391,013
Ensembl chr10:49,313,647...49,390,926
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GPX1
glutathione peroxidase 1
ISO
RGD
PMID:22342560
RGD:11353780
NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
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HNF1A
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Gestational diabetes
ClinVar
PMID:9562352 PMID:35299962
NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:decidua, endothelial cell protein:decreased expression:placenta
RGD
PMID:17990298 PMID:19343356
RGD:2313469 RGD:2313476
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IGF1R
insulin like growth factor 1 receptor
ISO
RGD
PMID:22241286
RGD:10046048
NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
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IL10
interleukin 10
ISO
protein:decreased expression:serum
RGD
PMID:18446686
RGD:2308947
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL6
interleukin 6
ISO
protein:increased expression:extracellular space (human)
RGD
PMID:19408175
RGD:2307186
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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INHBA
inhibin subunit beta A
ISO
protein:decreased expression:serum protein:increased expression:serum
RGD
PMID:7852520 PMID:14663836
RGD:2313385 RGD:2313391
NCBI chr12:53,115,379...53,117,128 NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967
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INS
insulin
ISO
protein:increased expression:serum
RGD
PMID:19269197
RGD:2311131
NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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INSR
insulin receptor
ISO
mRNA, protein:increased expression:placenta (human)
RGD
PMID:19179458 PMID:22241286
RGD:10046048 RGD:2307336
NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
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ITPR2
inositol 1,4,5-trisphosphate receptor type 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 5:46,935,923...47,465,681
Ensembl chr 5:46,935,932...47,464,125
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ITPR3
inositol 1,4,5-trisphosphate receptor type 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 7:29,835,922...29,901,305
Ensembl chr 7:29,835,922...29,901,309
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LEP
leptin
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum
CTD RGD
PMID:19269197 PMID:20421132
RGD:2311131
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20421132
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
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MBL2
mannose binding lectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15472209
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MEN1
menin 1
ISO
RGD
PMID:17975067
RGD:2317319
NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
MouseDO
NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
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MIR133A-2
microRNA mir-133a-2
ISO
RGD
PMID:26512955
RGD:11564338
NCBI chr 6:106,998,899...106,998,971
Ensembl chr 6:106,998,896...106,998,982
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OGG1
8-oxoguanine DNA glycosylase
ISO
mRNA:increased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr13:66,038,669...66,045,478
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PLAT
plasminogen activator, tissue type
ISO
RGD
PMID:17259140
RGD:2311668
NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
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RBP4
retinol binding protein 4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:35876300
RGD:329845845
NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
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RETN
resistin
ISO
protein:increased expression:serum
RGD
PMID:19408175
RGD:2307186
NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
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RYR1
ryanodine receptor 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
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RYR2
ryanodine receptor 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063
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RYR3
ryanodine receptor 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
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S100G
S100 calcium binding protein G
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr X:13,107,611...13,114,213
Ensembl chr X:13,107,402...13,114,213
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SIRT3
sirtuin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23956348
NCBI chr 2:38,465...55,074
Ensembl chr 2:38,464...55,101
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23956348 PMID:30738174 PMID:34175429
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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SRRM1
serine and arginine repetitive matrix 1
ISO
protein:increased glycation:placenta (human)
RGD
PMID:24308201
RGD:11038724
NCBI chr 6:82,309,192...82,348,076
Ensembl chr 6:82,286,211...82,343,766
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TCF7L2
transcription factor 7 like 2
susceptibility
ISO
DNA:SNP (human)
RGD
PMID:18984664
RGD:2312455
NCBI chr14:123,343,695...123,547,332
Ensembl chr14:123,343,412...123,546,417
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TRPV5
transient receptor potential cation channel subfamily V member 5
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr18:7,285,186...7,341,965
Ensembl chr18:7,284,589...7,318,392
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UTS2
urotensin 2
susceptibility
ISO
DNA:polymorphism
RGD
PMID:17327028
RGD:2306802
NCBI chr 6:68,552,889...68,560,827
Ensembl chr 6:68,552,887...68,559,674
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VDR
vitamin D receptor
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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NCR1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Gestational trophoblastic neoplasia
ClinVar
PMID:21948117 PMID:25741868
NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
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NLRP7
NLR family pyrin domain containing 7
ISO
ClinVar Annotator: match by term: Gestational trophoblastic neoplasia
ClinVar
PMID:21948117 PMID:25741868
NCBI chr 6:59,112,811...59,150,916
G
POU5F1
POU class 5 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18440631
NCBI chr 7:23,564,654...23,570,691
G
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: GRACILE syndrome
OMIM ClinVar
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:33511646 PMID:34662929 More...
NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793
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LBR
lamin B receptor
ISO
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
OMIM ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:36307859 More...
NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
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ANXA5
annexin A5
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
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APOE
apolipoprotein E
ISO
RGD
PMID:19086990
RGD:11039490
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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ASIC5
acid sensing ion channel subunit family member 5
ISO
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3
ClinVar
NCBI chr 8:44,646,451...44,674,639
Ensembl chr 8:44,646,814...44,674,650
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CBX3
chromobox 3
ISO
ClinVar Annotator: match by term: Recurrent spontaneous abortion
ClinVar
NCBI chr18:46,193,138...46,205,114
Ensembl chr18:46,193,140...46,204,714
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CCDC68
coiled-coil domain containing 68
ISO
ClinVar Annotator: match by term: Recurrent spontaneous abortion
ClinVar
NCBI chr 1:104,424,413...104,474,581
Ensembl chr 1:104,424,001...104,474,489
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CCNB3
cyclin B3
ISO
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1
ClinVar
NCBI chr X:43,922,729...43,988,939
Ensembl chr X:43,922,804...43,990,929
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CDK2
cyclin dependent kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
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CENPH
centromere protein H
ISO
ClinVar Annotator: match by term: Recurrent spontaneous abortion
ClinVar
NCBI chr16:47,353,319...47,378,746
Ensembl chr16:47,353,324...47,378,745
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CREB5
cAMP responsive element binding protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30100398
NCBI chr18:43,840,553...44,264,514
Ensembl chr18:43,844,942...44,261,031
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F2
coagulation factor II, thrombin
ISO
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2
ClinVar OMIM
PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:15059842 PMID:15534175 PMID:16493002 PMID:16606808 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 PMID:28707429 PMID:30297698 PMID:34110897 PMID:34355501 More...
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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F5
coagulation factor V
susceptibility
ISO
ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO
ClinVar OMIM
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 PMID:7968118 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9459326 PMID:9518910 PMID:9734642 PMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:11018168 PMID:11110695 PMID:11686338 PMID:12069454 PMID:12070000 PMID:12421138 PMID:14996674 PMID:15208046 PMID:15534175 PMID:15638861 PMID:15946211 PMID:16493002 PMID:16769590 PMID:16931580 PMID:19652888 PMID:20051284 PMID:21116184 PMID:21774968 PMID:22704462 PMID:22992668 PMID:23382263 PMID:23677252 PMID:23900608 PMID:24033266 PMID:25741868 PMID:25977387 PMID:26251307 PMID:26990548 PMID:27797270 PMID:28492532 PMID:28750087 PMID:34355501 More...
NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
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FOXO3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
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KCNQ1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Recurrent spontaneous abortion
ClinVar
PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675
NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
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MTHFR
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs: :677C>T, 1298A>C (human) DNA:SNP: :1298A>C (human)
RGD
PMID:19906129 PMID:22047507 PMID:22882325
RGD:10449404 RGD:10449411 RGD:10449415
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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PIF1
PIF1 5'-to-3' DNA helicase
ISO
ClinVar Annotator: match by term: Recurrent spontaneous abortion
ClinVar
NCBI chr 1:107,218,580...107,227,171
Ensembl chr 1:107,218,657...107,227,168
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PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
ISO
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3
ClinVar
NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149
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PLK1
polo like kinase 1
ISO
ClinVar Annotator: match by term: Recurrent spontaneous abortion
ClinVar
NCBI chr 3:22,537,814...22,550,901
Ensembl chr 3:22,537,831...22,552,380
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REXO4
REX4 homolog, 3'-5' exonuclease
ISO
ClinVar Annotator: match by term: Recurrent spontaneous abortion
ClinVar
NCBI chr 1:273,011,736...273,021,956
Ensembl chr 1:273,011,734...273,021,938
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SYCP3
synaptonemal complex protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19110213
NCBI chr 5:82,492,744...82,501,068
Ensembl chr 5:82,493,034...82,501,656
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THBD
thrombomodulin
susceptibility
ISO
DNA:SNP: :1418C>T (human)
RGD
PMID:23954867
RGD:11038683
NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
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ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13
ISO
protein:decreased activity:plasma (human)
RGD
PMID:12969811
RGD:10449045
NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039
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AHSP
alpha hemoglobin stabilizing protein
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:18347943
RGD:329956422
NCBI chr 3:17,059,340...17,060,343
Ensembl chr 3:17,059,333...17,065,749
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CD40LG
CD40 ligand
ISO
protein:increased expression:blood platelet (human)
RGD
PMID:23241952
RGD:11522719
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:9158311
RGD:1580990
NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
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FAS
Fas cell surface death receptor
susceptibility
ISO
DNA:SNP:promoter:-670A>G(rs1800682)(human) protein,mRNA:altered expression:placenta, liver:
RGD
PMID:28501275 PMID:30066360
RGD:14700669 RGD:14700673
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FASLG
Fas ligand
susceptibility
ISO
DNA:SNP:intron:124A>G(rs5030772)(human) protein:altered expression:blood, placenta, liver:
RGD
PMID:28501275 PMID:30066360
RGD:14700669 RGD:14700673
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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DCLRE1B
DNA cross-link repair 1B
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328
NCBI chr 4:106,646,591...106,656,490
Ensembl chr 4:106,646,011...106,656,452
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DKC1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31027506 More...
NCBI chr X:125,218,928...125,228,881
Ensembl chr X:125,218,923...125,229,525
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RTEL1
regulator of telomere elongation helicase 1
ISO
DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human)
RGD
PMID:23959892
RGD:152977765
NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690
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TERT
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia
ClinVar
PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115
NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
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TINF2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979
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CGA
glycoprotein hormones, alpha polypeptide
ISO
protein:increased expression:serum
RGD
PMID:2473429
RGD:2293636
NCBI chr 1:55,552,675...55,569,057
Ensembl chr 1:55,551,320...55,568,991
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EFTUD2
elongation factor Tu GTP binding domain containing 2
ISO
protein:increased expression:trophoblast, decidua:
RGD
PMID:32447180
RGD:155791666
NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479
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KHDC3L
KH domain containing 3 like, subcortical maternal complex member
ISO
ClinVar Annotator: match by term: Hydatidiform mole
ClinVar
PMID:25741868
NCBI chr 1:52,996,706...52,999,074
G
MLH1
mutL homolog 1
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757
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MMP2
matrix metallopeptidase 2
ISO
protein:increased expression:syncytiotrophoblast cell
RGD
PMID:16884384
RGD:2290363
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MSH2
mutS homolog 2
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
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NCR1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole
ClinVar
PMID:24033266 PMID:25741868
NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
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NLRP7
NLR family pyrin domain containing 7
ISO
ClinVar Annotator: match by term: Hydatidiform mole
ClinVar
PMID:24033266 PMID:25741868
NCBI chr 6:59,112,811...59,150,916
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PDGFRB
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
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MSH2
mutS homolog 2
ISO
protein:decreased expression:mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
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NCR1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1
ClinVar
PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19309689 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:26544189 PMID:26956250 PMID:28166811 PMID:28492532 More...
NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
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NLRP7
NLR family pyrin domain containing 7
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1
OMIM ClinVar
PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19309689 PMID:19650864 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22025618 PMID:22315435 PMID:22361007 PMID:22646272 PMID:22909446 PMID:23065465 PMID:23125094 PMID:23201303 PMID:23354651 PMID:23515668 PMID:23963444 PMID:24033266 PMID:24105752 PMID:24137163 PMID:24533231 PMID:25082979 PMID:25097207 PMID:25376457 PMID:25741868 PMID:26121690 PMID:26323243 PMID:26544189 PMID:26956250 PMID:28166811 PMID:28492532 More...
NCBI chr 6:59,112,811...59,150,916
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KHDC3L
KH domain containing 3 like, subcortical maternal complex member
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2
OMIM ClinVar
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 PMID:23232697 PMID:24033266 More...
NCBI chr 1:52,996,706...52,999,074
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MEI1
meiotic double-stranded break formation protein 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3
OMIM ClinVar
PMID:25741868 PMID:30388401
NCBI chr 5:6,785,957...6,870,599
Ensembl chr 5:6,800,961...6,871,625
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TOP6BL
TOP6B like initiator of meiotic double strand breaks
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4
OMIM ClinVar
PMID:25741868 PMID:30388401
NCBI chr 2:5,593,245...5,699,263
Ensembl chr 2:5,593,245...5,697,799
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ACTA1
actin alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674
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ALB
albumin
disease_progression
ISO
RGD
PMID:17195148
RGD:11036098
NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696
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ANKS3
ankyrin repeat and sterile alpha motif domain containing 3
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 3:37,664,182...37,689,502
Ensembl chr 3:37,650,256...37,689,500
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ARID1A
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
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C9H1orf105
chromosome 9 C1orf105 homolog
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741913 PMID:26036949
NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,030...114,851,040
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CCBE1
collagen and calcium binding EGF domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911200
NCBI chr 1:161,320,627...161,556,539
Ensembl chr 1:161,321,273...161,556,537
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CHRNA1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208
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CTSA
cathepsin A
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr17:48,082,480...48,089,971
Ensembl chr17:48,082,448...48,089,971
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DHCR24
24-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,519,061
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DNAH14
dynein axonemal heavy chain 14
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr10:13,048,002...13,389,497
Ensembl chr10:13,104,564...13,389,992
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DNAH9
dynein axonemal heavy chain 9
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564
NCBI chr12:56,045,079...56,366,327
Ensembl chr12:56,045,381...56,358,236
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EHBP1L1
EH domain binding protein 1 like 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 2:6,662,460...6,678,721
Ensembl chr 2:6,662,463...6,678,888
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FCRL4
Fc receptor like 4
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741914
NCBI chr 4:92,542,380...92,570,481
Ensembl chr 4:92,543,263...92,567,723
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FEN1
flap structure-specific endonuclease 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 2:9,752,004...9,756,863
Ensembl chr 2:9,752,013...9,756,728
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FOXC2
forkhead box C2
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367
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FOXP3
forkhead box P3
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 PMID:25741868 PMID:28492532 PMID:28778586 PMID:28783662 PMID:30293990 PMID:30443250 PMID:31130284 PMID:33637067 More...
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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FZD6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:25741914 PMID:26036949
NCBI chr 4:33,811,159...33,844,556
Ensembl chr 4:33,809,809...33,844,656
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GALNT14
polypeptide N-acetylgalactosaminyltransferase 14
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr 3:108,223,315...108,439,602
Ensembl chr 3:108,223,996...108,440,189
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GUSB
glucuronidase beta
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:25741898 PMID:26036949 PMID:28492532 PMID:29620724 PMID:31130284 PMID:31497474 More...
NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,389...16,689,203
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HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
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JAK3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
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KIF19
kinesin family member 19
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr12:6,775,695...6,803,066
Ensembl chr12:6,775,705...6,803,014
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:24549645 PMID:25741868
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699
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LZTR1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288
NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
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MOCS3
molybdenum cofactor synthesis 3
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr17:52,377,343...52,379,711
Ensembl chr17:52,377,348...52,380,260
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MYBPHL
myosin binding protein H like
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 4:110,792,628...110,809,479
Ensembl chr 4:110,793,408...110,808,248
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MYOM1
myomesin 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949 PMID:28492532 PMID:31130284
NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297
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MYRF
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 2:9,761,230...9,795,873
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NEB
nebulin
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:18330676 PMID:25205138 PMID:25741868 PMID:25741916 PMID:26036949 PMID:26841830 PMID:28492532 More...
NCBI chr15:546,187...766,131
Ensembl chr15:546,173...766,125
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NEU1
neuraminidase 1
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
NCBI chr 7:23,953,721...23,958,659
Ensembl chr 7:23,947,061...23,958,666
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NSD1
nuclear receptor binding SET domain protein 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059
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PIEZO1
piezo type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 PMID:30655378 PMID:30887001 PMID:31091145 PMID:31624108 PMID:31680349 PMID:32981126 PMID:33027564 More...
NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
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PIGC
phosphatidylinositol glycan anchor biosynthesis class C
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741913 PMID:26036949
NCBI chr 9:114,824,795...114,827,731
Ensembl chr 9:114,824,802...114,827,413
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PRPF19
pre-mRNA processing factor 19
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 2:10,851,779...10,860,315
Ensembl chr 2:10,851,579...10,860,836
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17339163 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18470943 PMID:18562489 PMID:18678287 PMID:19008228 PMID:19020799 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19835954 PMID:20651068 PMID:21106241 PMID:21365683 PMID:21784453 PMID:22371576 PMID:22420426 PMID:22681964 PMID:23321623 PMID:24033266 PMID:24183200 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27030275 PMID:27069254 PMID:27276561 PMID:28492532 PMID:30732632 PMID:30896080 More...
NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
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RIT1
Ras like without CAAX 1
ISO
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 PMID:25741868 PMID:26242988 PMID:26446362 PMID:26714497 PMID:26757980 PMID:27101134 PMID:27699752 PMID:28323383 PMID:28492532 PMID:30266093 PMID:33190430 PMID:33258288 More...
NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384
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ROCK2
Rho associated coiled-coil containing protein kinase 2
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 3:125,353,063...125,493,368
Ensembl chr 3:125,352,920...125,493,362
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RYR1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 More...
NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
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RYR3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
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SERPINA11
serpin family A member 11
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 7:115,666,071...115,681,890
Ensembl chr 7:115,666,070...115,681,790
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SFTPA1
surfactant protein A1
ISO
protein:decreased expression:lung
RGD
PMID:7590701
RGD:4143453
NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
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SHOC2
SHOC2 leucine rich repeat scaffold protein
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 More...
NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,059...121,444,136
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SUZ12
SUZ12 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,601...43,032,654
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SVOPL
SVOP like
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr18:10,968,717...11,045,365
Ensembl chr18:10,968,790...11,043,021
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THSD1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741915 PMID:26036949 PMID:28749478
NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872
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UBN1
ubinuclein 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr 3:37,512,306...37,555,255
Ensembl chr 3:37,512,313...37,555,203
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VPS13D
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058
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LARS2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
OMIM ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
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GDF15
growth differentiation factor 15
susceptibility
ISO
ClinVar Annotator: match by term: Hyperemesis gravidarum, susceptibility to
OMIM ClinVar
PMID:35218128 PMID:38092039
NCBI chr 2:59,409,035...59,411,356
Ensembl chr 2:59,408,904...59,411,358
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CDKN1C
cyclin dependent kinase inhibitor 1C
ISO
ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
OMIM ClinVar
PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 PMID:24098681 PMID:24313804 PMID:24624461 PMID:25057881 PMID:25262539 PMID:25614875 PMID:25741868 PMID:28492532 PMID:28546232 PMID:30374176 PMID:31630891 PMID:31976094 PMID:33076988 PMID:34098225 More...
NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,830...2,021,853
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POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
ClinVar OMIM
PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 PMID:21129811 PMID:23230001 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:25948378 PMID:26467025 PMID:27153395 PMID:28492532 PMID:29056344 PMID:29212164 PMID:29754823 PMID:29987844 PMID:30503519 PMID:35599849 PMID:35860951 More...
NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547
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ABCB4
ATP binding cassette subfamily B member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:93,171,371...93,262,124
G
ATP8B1
ATPase phospholipid transporting 8B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612
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HDAC3
histone deacetylase 3
severity
ISO
RGD
PMID:28697498
RGD:14696655
NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399
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IL18
interleukin 18
severity
ISO
RGD
PMID:28697498
RGD:14696655
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23627780
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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VCAM1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28851649
NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
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ATP8B1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1
OMIM ClinVar
PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:28492532 PMID:28924228 PMID:29238877 PMID:32650689 PMID:32695736 PMID:33223529 PMID:35894240 More...
NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612
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ABCB11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3
ClinVar
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:20232290 PMID:20583290 PMID:20683201 PMID:23022423 PMID:23279303 PMID:23750872 PMID:24231640 PMID:24339557 PMID:24402531 PMID:25741868 PMID:26126923 PMID:26858187 PMID:27050426 PMID:27153395 PMID:27426735 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:29992621 PMID:30091450 PMID:30934130 PMID:31538484 PMID:31745229 PMID:32309332 PMID:32581362 PMID:32808743 PMID:34016879 More...
NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403
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ABCB4
ATP binding cassette subfamily B member 4
ISO
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3
OMIM ClinVar
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 PMID:12624161 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16199547 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19185004 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25741868 PMID:25741914 PMID:25741915 PMID:25741916 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:31000363 PMID:31130284 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32321542 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33390354 PMID:33742171 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34942279 PMID:34961929 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35922258 PMID:36277956 More...
NCBI chr 9:93,171,371...93,262,124
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HSPG2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29620724 PMID:29901129 PMID:30362252 PMID:31127727 PMID:34244600 PMID:34906502 PMID:35982159 More...
NCBI chr 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334
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LDLRAD2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 6:79,837,734...79,850,311
Ensembl chr 6:79,838,616...79,849,661
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MDFIC
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: Lymphatic malformation 12
OMIM ClinVar
PMID:25741868 PMID:35235341
NCBI chr18:31,026,048...31,125,664
Ensembl chr18:31,027,056...31,125,465
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THSD1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 13
OMIM ClinVar
PMID:25741868 PMID:25741915 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 More...
NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872
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CALCRL
calcitonin receptor like receptor
ISO
ClinVar Annotator: match by term: Lymphatic malformation 8
OMIM ClinVar
PMID:25741868
NCBI chr15:92,233,264...92,332,459
Ensembl chr15:92,233,841...92,332,386
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C3
complement C3
ISO
RGD
PMID:8746955
RGD:7401278
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CCL4
C-C motif chemokine ligand 4
ISO
associated with HIV Infections
RGD
PMID:16250882
RGD:5683897
NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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CXCR2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16041010
NCBI chr15:120,219,657...120,230,203
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TLR4
toll like receptor 4
ISO
mRNA,protein:increased expression:mammary gland:
RGD
PMID:21691936
RGD:7777124
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TLR9
toll like receptor 9
resistance
ISO
mRNA:increased expression:mammary gland (rat)
RGD
PMID:17321466
RGD:5130197
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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PAH
phenylalanine hydroxylase
ISO
RGD
PMID:14654659
RGD:1601526
NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,385,435...81,463,451
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PSPH
phosphoserine phosphatase
ISO
RGD
PMID:7201630
RGD:2308873
NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952
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AGT
angiotensinogen
ISO
mRNA:increased expression:lung
RGD
PMID:14605247
RGD:11039054
NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
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AGTR2
angiotensin II receptor type 2
treatment
ISO
RGD
PMID:14605247
RGD:11039054
NCBI chr X:95,267,709...95,272,237
Ensembl chr X:95,269,300...95,270,388
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ATF2
activating transcription factor 2
ISO
MouseDO
NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,985,126...81,081,014
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SCGB1A1
secretoglobin family 1A member 1
ISO
protein:increased expression:broncho-alveolar lavage fluid, meconium:
RGD
PMID:21567110
RGD:5144123
NCBI chr 2:9,297,282...9,302,204
Ensembl chr 2:9,297,283...9,302,165
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ACTG2
actin gamma 2, smooth muscle
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:27481187 PMID:28422808 PMID:29781137 PMID:31769566 PMID:33294969 More...
NCBI chr 3:69,097,366...69,121,542
Ensembl chr 3:69,096,782...69,121,351
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FOXF1
forkhead box F1
ISO
ClinVar Annotator: match by term: Fetal megacystis
ClinVar
PMID:25741868
NCBI chr 6:2,579,348...2,598,122
Ensembl chr 6:2,592,993...2,597,659
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PCNT
pericentrin
ISO
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
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CLASP1
cytoplasmic linker associated protein 1
ISO
ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1
ClinVar
PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:21990275 PMID:22581640 PMID:23794361 PMID:24865609 PMID:25741868 PMID:25741869 PMID:26419500 PMID:26522830 PMID:26641461 PMID:27040866 PMID:28492532 PMID:28623346 PMID:28669401 PMID:29165669 PMID:29263834 PMID:29265708 PMID:29391254 PMID:30214071 PMID:30368667 PMID:30455926 PMID:32109076 PMID:32581362 PMID:32595695 PMID:32628740 PMID:33059947 More...
NCBI chr15:29,782,613...30,042,727
Ensembl chr15:29,782,746...30,042,734
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MYH7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I
ClinVar
PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 PMID:34426522 PMID:34542152 More...
NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225
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PCNT
pericentrin
ISO
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition
OMIM ClinVar
PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 PMID:18157127 PMID:18174396 PMID:18414213 PMID:19448849 PMID:19643772 PMID:19839044 PMID:19937158 PMID:21195721 PMID:21270239 PMID:21567919 PMID:22821869 PMID:23033978 PMID:24033266 PMID:24928221 PMID:25326635 PMID:25356970 PMID:25363768 PMID:25741868 PMID:27124789 PMID:27323140 PMID:27900370 PMID:28492532 PMID:30214071 PMID:30922925 PMID:32267100 PMID:32818659 PMID:35568357 More...
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GPX3
glutathione peroxidase 3
ISO
protein:increased expression:plasma
RGD
PMID:8476834
RGD:401827852
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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CHRNA1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM ClinVar
PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 PMID:9536098 PMID:10195214 PMID:14719537 PMID:15907919 PMID:16199547 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22406191 PMID:22728938 PMID:23037934 PMID:24121633 PMID:25348405 PMID:25450229 PMID:25741868 PMID:25741885 PMID:25741916 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:30177536 PMID:31680349 PMID:33216040 PMID:36634413 More...
NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208
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CHRND
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM ClinVar
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18398509 PMID:18414213 PMID:23108489 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:28518170 PMID:29382405 PMID:29390429 PMID:29399782 PMID:30467950 PMID:31560172 PMID:32070632 PMID:32360402 PMID:32403337 PMID:32528171 PMID:34791078 More...
NCBI chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829
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CHRNG
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM ClinVar
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25326635 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25741905 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:29054425 PMID:30868735 PMID:31230720 PMID:32536119 PMID:32901917 PMID:33060286 PMID:34008892 PMID:34440395 More...
NCBI chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544
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LOC110261337
tigger transposable element-derived protein 1-like
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:63,122,856...63,151,009
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PHGDH
phosphoglycerate dehydrogenase
ISO
ClinVar Annotator: match by term: Neu-Laxova syndrome 1
OMIM ClinVar
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:25741916 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28492532 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:32404165 PMID:33758422 More...
NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,444,693...101,478,144
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PSAT1
phosphoserine aminotransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:231,142,673...231,172,364
Ensembl chr 1:231,142,625...231,172,360
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CFTR
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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LZTR1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:25741868 PMID:25741905 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31533111 PMID:31825158 More...
NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
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SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Nuchal bleb, familial
ClinVar
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723
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AGT
angiotensinogen
ISO
ClinVar Annotator: match by term: Anhydramnios
ClinVar
PMID:25741868 PMID:35005812
NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
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DNAJB11
DnaJ heat shock protein family (Hsp40) member B11
ISO
ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:25741868 PMID:35005812
NCBI chr13:124,387,921...124,409,967
Ensembl chr13:124,390,970...124,413,200
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INF2
inverted formin 2
ISO
ClinVar Annotator: match by term: Oligohydramnios
ClinVar
PMID:25741868
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NPHP3
nephrocystin 3
ISO
ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:25741868 PMID:35005812
NCBI chr13:73,843,770...73,901,020
Ensembl chr13:73,858,427...73,900,967
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PDGFA
platelet derived growth factor subunit A
ISO
mRNA, protein:increased expression:lung
RGD
PMID:17519529
RGD:2292203
NCBI chr 3:296,399...322,967
Ensembl chr 3:301,584...321,712
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PDGFB
platelet derived growth factor subunit B
ISO
mRNA, protein:increased expression:lung
RGD
PMID:17519529
RGD:2292203
Ensembl chr 5:8,986,462...9,007,435
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PDGFRA
platelet derived growth factor receptor alpha
ISO
mRNA:increased expression:lung
RGD
PMID:17519529
RGD:2292203
NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441
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PDGFRB
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:lung
RGD
PMID:17519529
RGD:2292203
NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
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PDPN
podoplanin
ISO
mRNA, protein:decreased expression:lung
RGD
PMID:11839536
RGD:2292243
NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996
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PKD1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:25741868 PMID:35005812
NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
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PKD2
polycystin 2, transient receptor potential cation channel
ISO
ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:25741868 PMID:35005812
NCBI chr 8:131,002,973...131,058,932
Ensembl chr 8:131,005,407...131,058,932
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PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
ISO
ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:20413436 PMID:21274727 PMID:25124979 PMID:25741868 PMID:26695994 PMID:27225849 PMID:28375157 PMID:28492532 PMID:30773290 PMID:32799815 PMID:33532864 PMID:35005812 More...
NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149
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TMEM67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios
ClinVar
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 PMID:35005812 More...
NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121
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TLE6
TLE family member 6, subcortical maternal complex member
ISO
ClinVar Annotator: match by term: Preimplantation embryonic lethality 1
OMIM ClinVar
PMID:25741868 PMID:26537248 PMID:36271123
NCBI chr 2:75,537,641...75,550,676
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PADI6
peptidyl arginine deiminase 6
ISO
ClinVar Annotator: match by term: Preimplantation embryonic lethality 2
OMIM ClinVar
PMID:25741868 PMID:27545678 PMID:34987164
NCBI chr 6:75,969,855...75,987,097
Ensembl chr 6:75,969,958...75,987,093
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EDNRB
endothelin receptor type B
ISO
RGD
PMID:8570650
RGD:628515
NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
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FAM20C
FAM20C golgi associated secretory pathway kinase
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25558065
NCBI chr 3:159,107...200,462
Ensembl chr 3:163,421...200,459
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FANCD2
FA complementation group D2
ISO
RGD
PMID:12893777
RGD:11344906
NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
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KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28242822
NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295
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LAMC3
laminin subunit gamma 3
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25741868 PMID:28492532 PMID:33639934
NCBI chr 1:271,004,423...271,071,223
Ensembl chr 1:271,004,433...271,071,223
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POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:22958903 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31130284
NCBI chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133
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SPDL1
spindle apparatus coiled-coil protein 1
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25558065
NCBI chr16:54,276,943...54,303,465
Ensembl chr16:54,277,052...54,303,544
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WDR81
WD repeat domain 81
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25558065 PMID:25741868 PMID:25741916 PMID:28556411
NCBI chr12:47,921,818...47,933,782
Ensembl chr12:47,922,012...47,933,778
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ZFPM2
zinc finger protein, FOG family member 2
ISO
RGD
PMID:25196150
RGD:155882481
NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287
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ARMC9
armadillo repeat containing 9
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,928,642...132,101,348
Ensembl chr15:131,928,719...132,101,343
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ATG16L1
autophagy related 16 like 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,651,294...133,693,472
Ensembl chr15:133,651,298...133,693,468
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B3GNT7
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:132,127,386...132,131,912
Ensembl chr15:132,127,396...132,131,916
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C15H2orf72
chromosome 15 C2orf72 homolog
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,787,171...131,795,373
Ensembl chr15:131,787,212...131,795,361
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CAB39
calcium binding protein 39
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,492,575...131,584,963
Ensembl chr15:131,492,578...131,584,962
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CHRND
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829
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CHRNG
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544
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COPS7B
COP9 signalosome subunit 7B
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:132,427,023...132,451,199
Ensembl chr15:132,427,173...132,450,689
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CTR9
CTR9 homolog, Paf1/RNA polymerase II complex component
ISO
ClinVar Annotator: match by term: Predisposition to Wilms tumor
ClinVar
PMID:25099282 PMID:28492532
NCBI chr 2:48,700,629...48,729,480
Ensembl chr 2:48,700,974...48,729,307
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DGKD
diacylglycerol kinase delta
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,749,349...133,867,804
Ensembl chr15:133,749,345...133,867,801
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DIS3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:25741868
NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,963
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DIS3L2
DIS3 like 3'-5' exoribonuclease 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
OMIM ClinVar
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23486540 PMID:23576526 PMID:23594738 PMID:23613427 PMID:23756462 PMID:24141620 PMID:25640679 PMID:25670083 PMID:25741868 PMID:25741875 PMID:26689913 PMID:27153395 PMID:27431325 PMID:28328139 PMID:28492532 PMID:29625052 PMID:30344923 PMID:30359267 PMID:31350202 PMID:31942411 PMID:33332384 PMID:33719213 PMID:34130653 PMID:35495172 PMID:36451132 More...
NCBI chr15:132,540,784...132,902,943
Ensembl chr15:132,540,829...132,906,232
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DNAJB3
DnaJ heat shock protein family (Hsp40) member B3
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:134,027,252...134,028,266
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ECEL1
endothelin converting enzyme like 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:132,988,705...132,997,924
Ensembl chr15:132,988,657...132,997,825
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EFHD1
EF-hand domain family member D1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,120,092...133,169,430
Ensembl chr15:133,120,093...133,169,428
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EIF4E2
eukaryotic translation initiation factor 4E family member 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,060,054...133,092,624
Ensembl chr15:133,060,247...133,103,719
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GIGYF2
GRB10 interacting GYF protein 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,180,638...133,313,307
Ensembl chr15:133,260,113...133,311,887
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GPR55
G protein-coupled receptor 55
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,655,655...131,674,816
Ensembl chr15:131,655,663...131,673,693
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HJURP
Holliday junction recognition protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:134,106,561...134,123,163
Ensembl chr15:134,106,578...134,123,140
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HTR2B
5-hydroxytryptamine receptor 2B
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,844,578...131,860,417
Ensembl chr15:131,844,992...131,859,277
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ITM2C
integral membrane protein 2C
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,614,887...131,627,428
Ensembl chr15:131,614,743...131,628,619
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KCNJ13
potassium inwardly rectifying channel subfamily J member 13
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,239,843...133,249,630
Ensembl chr15:133,237,960...133,249,400
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LOC100517129
nuclear body protein SP140-like protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,299,923...131,381,253
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LOC100522404
intestinal-type alkaline phosphatase-like
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:132,974,852...132,979,361
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LOC110261337
tigger transposable element-derived protein 1-like
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 6:63,122,856...63,151,009
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MROH2A
maestro heat like repeat family member 2A
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:134,053,884...134,103,255
Ensembl chr15:134,053,685...134,103,631
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NCL
nucleolin
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:132,163,453...132,174,214
Ensembl chr15:132,162,516...132,174,172
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NEU2
neuraminidase 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,392,559...133,479,406
Ensembl chr15:133,468,293...133,477,110
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NGEF
neuronal guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,332,715...133,460,161
Ensembl chr15:133,332,718...133,460,166
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NMUR1
neuromedin U receptor 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:132,217,236...132,228,645
Ensembl chr15:132,217,223...132,228,645
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NPPC
natriuretic peptide C
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:132,504,669...132,509,688
Ensembl chr15:132,506,474...132,509,673
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PDE6D
phosphodiesterase 6D
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:132,376,117...132,426,678
Ensembl chr15:132,375,743...132,426,683
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PRSS56
serine protease 56
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,033,848...133,039,583
Ensembl chr15:133,034,255...133,039,367
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PSMD1
proteasome 26S subunit, non-ATPase 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,807,594...131,912,194
Ensembl chr15:131,807,630...131,912,866
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PTMA
prothymosin alpha
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:132,353,763...132,361,442
Ensembl chr15:132,355,655...132,361,435
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SAG
S-antigen visual arrestin
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,704,975...133,741,844
Ensembl chr15:133,705,008...133,741,798
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SNORC
secondary ossification center associated regulator of chondrocyte maturation
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,323,562...133,330,253
Ensembl chr15:133,323,562...133,330,253
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SP110
SP110 nuclear body protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,169,911...131,226,543
Ensembl chr15:131,169,917...131,226,544
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SP140
SP140 nuclear body protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,225,305...131,292,172
Ensembl chr15:131,226,626...131,292,170
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SPATA3
spermatogenesis associated 3
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:131,742,405...131,762,293
Ensembl chr15:131,743,332...131,752,395
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SPP2
secreted phosphoprotein 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:134,282,786...134,309,610
Ensembl chr15:134,282,842...134,306,862
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TEX44
testis expressed 44
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:132,266,149...132,267,612
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TRPM8
transient receptor potential cation channel subfamily M member 8
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:134,185,316...134,267,973
Ensembl chr15:134,145,943...134,267,970
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UGT1A6
UDP glucuronosyltransferase 1 family, polypeptide A6
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,968,693...134,049,029
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USP40
ubiquitin specific peptidase 40
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr15:133,870,831...133,952,863
Ensembl chr15:133,870,834...133,952,863
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PTF1A
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS
OMIM ClinVar
PMID:10507728 PMID:15543146 PMID:18591390 PMID:20065546 PMID:21749365 PMID:25741868 PMID:25775927 PMID:28492532 More...
NCBI chr10:51,817,697...51,820,147
Ensembl chr10:51,817,924...51,819,960
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IGF2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12087403
NCBI chr 2:1,469,183...1,496,417
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PRSS8
serine protease 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24722141
NCBI chr 3:17,357,793...17,362,223
Ensembl chr 3:17,357,802...17,362,220
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SPINT2
serine peptidase inhibitor, Kunitz type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24722141
NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,559
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16007645
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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BHMT
betaine--homocysteine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17376725
NCBI chr 2:87,911,093...87,935,252
Ensembl chr 2:87,910,603...87,935,252
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MTHFD1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15633187
NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,387
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NOS3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11354626
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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PROC
protein C, inactivator of coagulation factors Va and VIIIa
susceptibility
ISO
RGD
PMID:9855597
RGD:11564329
NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,043,545...25,056,595
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AGTR1
angiotensin II receptor type 1
ISO
mRNA, protein:increased expression:placenta
RGD
PMID:20621762
RGD:5147460
NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
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CYP19A2
cytochrome P450 19A2
ISO
mRNA, protein:altered expression:hippocampus (rat)
RGD
PMID:20662593
RGD:4890445
NCBI chr 1:120,652,172...120,695,899
Ensembl chr 1:120,367,667...120,695,899
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EMP2
epithelial membrane protein 2
ISO
MouseDO
NCBI chr 3:32,449,496...32,493,245
Ensembl chr 3:32,450,604...32,492,721
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EPO
erythropoietin
treatment
ISO
RGD
PMID:20809703
RGD:10400897
NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
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GJB3
gap junction protein beta 3
ISO
RGD
PMID:11237463
RGD:12436730
NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
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GRIN1
glutamate ionotropic receptor NMDA type subunit 1
ISO
mRNA, protein:altered expression:hippocampus (rat)
RGD
PMID:19144756
RGD:2326049
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
ISO
protein:decreased expression:hippocampus (rat)
RGD
PMID:19144756
RGD:2326049
NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499
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GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
ISO
protein:increased expression:hippocampus (rat)
RGD
PMID:19144756
RGD:2326049
NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558
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ITGA2
integrin subunit alpha 2
ISO
mRNA:decreased expression:placenta (rat)
RGD
PMID:20621762
RGD:5147460
NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
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PDX1
pancreatic and duodenal homeobox 1
ISO
mRNA:increased expression:placenta (rat)
RGD
PMID:17893880
RGD:2311215
NCBI chr11:5,303,609...5,309,063
Ensembl chr11:5,303,609...5,309,063
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PPARGC1A
PPARG coactivator 1 alpha
ISO
mRNA, protein:decreased expression:gastrocnemius muscle (rat)
RGD
PMID:18319353
RGD:10059693
NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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SERPINE1
serpin family E member 1
ISO
protein:increased expression:plasma:
RGD
PMID:26903689
RGD:11557202
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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GPC3
glypican 3
ISO
protein:increased expression:placenta, trophoblast cells (human)
RGD
PMID:20868507
RGD:243065141
NCBI chr X:109,536,495...109,973,605
Ensembl chr X:109,536,504...109,973,607
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ABCC8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 More...
NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
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GLDN
gliomedin
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:25741868 PMID:27616481 PMID:28726266 PMID:31680349
NCBI chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041
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HYLS1
HYLS1 centriolar and ciliogenesis associated
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:25741868 PMID:27055666 PMID:31680349
NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,013,348...53,028,551
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IGF2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9349812
NCBI chr 2:1,469,183...1,496,417
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KCNQ1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23392653 PMID:23631430 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:26669661 PMID:27831900 PMID:28492532 PMID:30755392 PMID:31447099 PMID:32893267 PMID:34135346 PMID:34404389 PMID:34798354 PMID:35352813 PMID:36102233 More...
NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
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LNPEP
leucyl and cystinyl aminopeptidase
ISO
associated with Diabetes Mellitus
RGD
PMID:1789335
RGD:2311543
NCBI chr 2:103,568,366...103,659,589
Ensembl chr 2:103,567,602...103,661,070
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MTM1
myotubularin 1
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:25741868
NCBI chr X:122,286,904...122,379,302
Ensembl chr X:122,286,916...122,379,299
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PIEZO1
piezo type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:25741868 PMID:28492532 PMID:30244526 PMID:31680349
NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
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PUS3
pseudouridine synthase 3
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:25741868 PMID:27055666 PMID:31680349
NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,883...53,028,560
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SLC26A3
solute carrier family 26 member 3
ISO
ClinVar Annotator: match by term: Polyhydramnios
ClinVar
PMID:9718329 PMID:21394828 PMID:25741868 PMID:28492532 PMID:31680349 PMID:33191723 PMID:34503561 More...
NCBI chr 9:107,480,629...107,518,771
Ensembl chr 9:107,480,641...107,518,728
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STRADA
STE20 related adaptor alpha
ISO
ClinVar Annotator: match by term: PMSE SYNDROME | ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 PMID:25741868 PMID:27170158 PMID:28492532 PMID:29358611 PMID:33605605 PMID:35830182 More...
NCBI chr12:15,191,793...15,222,709
Ensembl chr12:15,191,782...15,223,558
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GABRD
gamma-aminobutyric acid type A receptor subunit delta
ISO
MouseDO
NCBI chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640
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IL10
interleukin 10
ISO
RGD
PMID:17033197
RGD:1598630
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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TPH1
tryptophan hydroxylase 1
ISO
RGD
PMID:15544576
RGD:1580465
NCBI chr 2:41,075,623...41,109,005
Ensembl chr 2:41,075,628...41,109,437
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
onset
ISO
CTD Direct Evidence: marker/mechanism DNA:insertion/deletion:intron 16:
CTD RGD
PMID:17114810 PMID:20044877
RGD:40400703
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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ACVR2B
activin A receptor type 2B
ISO
protein:increased expression:placenta (human)
RGD
PMID:27176145
RGD:329853749
NCBI chr13:23,237,699...23,276,086
Ensembl chr13:23,237,699...23,267,373
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ADD1
adducin 1
ISO
mRNA:increased expression:blood
RGD
PMID:19731222
RGD:5147993
NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,062...1,710,650
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AGT
angiotensinogen
ISO
ClinVar Annotator: match by term: Preeclampsia, susceptibility to
ClinVar
PMID:1394429 PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 PMID:8518804 PMID:9259580 PMID:9421481 PMID:9831339 PMID:16059745 PMID:25741868 PMID:28492532 More...
NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
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AKR1C1
aldo-keto reductase family 1, member C1
ISO
mRNA:decreased expression:blood:
RGD
PMID:19681734
RGD:10053633
NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248
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AKR1C3
aldo-keto reductase family 1 member C3
treatment
ISO
RGD
PMID:25876805
RGD:11541124
NCBI chr10:65,650,223...65,679,878
Ensembl chr10:65,576,464...65,678,248
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ALB
albumin
severity
ISO
RGD
PMID:21923989
RGD:11035264
NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696
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ALKBH5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34995009
NCBI chr12:60,507,662...60,530,239
Ensembl chr12:60,507,667...60,529,733
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ANXA5
annexin A5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19837457
NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
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APELA
apelin receptor early endogenous ligand
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 8:53,703,735...53,736,989
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ARHGAP45
Rho GTPase activating protein 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26095815
NCBI chr 2:77,342,153...77,355,894
Ensembl chr 2:77,342,156...77,356,837
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ARID1A
AT-rich interaction domain 1A
disease_progression
ISO
associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human)
RGD
PMID:32529396
RGD:243065143
NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
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ASB4
ankyrin repeat and SOCS box containing 4
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 9:75,110,367...75,337,619
Ensembl chr 9:75,018,067...75,203,447
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ATP2B1
ATPase plasma membrane Ca2+ transporting 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 5:92,935,688...93,061,406
Ensembl chr 5:92,935,694...93,061,405
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ATP2B2
ATPase plasma membrane Ca2+ transporting 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr X:124,318,874...124,357,653
Ensembl chr X:124,301,713...124,357,653
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ATP2B4
ATPase plasma membrane Ca2+ transporting 4
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 9:64,336,354...64,445,669
Ensembl chr 9:64,336,499...64,445,663
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C3
complement C3
treatment
ISO
RGD
PMID:23685261
RGD:7411624
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CALB1
calbindin 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 4:46,701,276...46,723,548
Ensembl chr 4:46,701,045...46,725,197
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:serum (rat)
RGD
PMID:19617880
RGD:2317272
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CCN3
cellular communication network factor 3
ISO
protein:decreased expression:placenta (human)
RGD
PMID:16675545
RGD:1580971
NCBI chr 4:19,505,698...19,514,481
Ensembl chr 4:19,505,701...19,514,406
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CD274
CD274 molecule
treatment
ISO
RGD
PMID:27277012
RGD:40886269
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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CD40
CD40 molecule
ISO
protein:increased expression:blood, monocyte (human)
RGD
PMID:19221099
RGD:11520792
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
treatment
ISO
protein:increased expression:blood platelet (human)
RGD
PMID:23241952 PMID:26310940
RGD:11056772 RGD:11522719
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CD46
CD46 molecule, complement regulatory protein
susceptibility no_association
ISO
DNA:missense mutation:cds:p.A304V (human)
RGD
PMID:21445332 PMID:25710174
RGD:11352807 RGD:6483459
NCBI chr 9:135,025,439...135,078,910
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CDKN1C
cyclin dependent kinase inhibitor 1C
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,830...2,021,853
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CEBPA
CCAAT enhancer binding protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,207...43,085,836
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CHI3L1
chitinase 3 like 1
ISO
protein:increased secretion:umbilical cord, serum (human)
RGD
PMID:18054022
RGD:4892664
NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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CLU
clusterin
ISO
DNA:SNP:exon:866C>T (human)
RGD
PMID:15925890
RGD:1581195
NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
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CMKLR1
chemerin chemokine-like receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr14:42,420,166...42,468,080
Ensembl chr14:42,420,177...42,468,058
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COMT
catechol-O-methyltransferase
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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CORIN
corin, serine peptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:37,530,812...37,811,226
Ensembl chr 8:37,530,815...37,809,761
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CP
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18679377
NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476
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CREBBP
CREB binding protein
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:33625689
RGD:153350159
NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224
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CST3
cystatin C
ISO
protein:increased expression:plasma (human)
RGD
PMID:18197549
RGD:2314350
NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
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CUBN
cubilin
ISO
associated with late term delivery; mRNA:decreased expression:placenta (human)
RGD
PMID:32682061
RGD:401901078
NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,758
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CYP11B2
cytochrome P450 family 11 subfamily B member 2
ISO
DNA:missense mutation:cds:p.V386A (human)
RGD
PMID:15569322
RGD:1576428
NCBI chr 4:1,365,725...1,373,138
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
mRNA:increased expression:placenta (human) associated with hypoxia; protein:increased expression:placenta (human)
RGD
PMID:22871339 PMID:36477942
RGD:401901075 RGD:401901174
NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
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CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
mRNA:increased expression:placenta (human) associated with hypoxia; protein:increased expression:placenta (human)
RGD
PMID:22871339 PMID:36477942
RGD:401901075 RGD:401901174
NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
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CYP2R1
cytochrome P450 family 2 subfamily R member 1
ISO
associated with hypoxia; protein:decreased expression:placenta (human) mRNA:decreased expression:placenta (human)
RGD
PMID:22871339 PMID:32682061 PMID:36477942
RGD:401901075 RGD:401901078 RGD:401901174
NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,334
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DAB2IP
DAB2 interacting protein
ISO
mRNA, protein:decreased expression:placenta (human)
RGD
PMID:25604087
RGD:11553571
NCBI chr 1:261,732,280...261,859,833
Ensembl chr 1:261,659,660...261,859,022
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DDAH2
DDAH family member 2, ADMA-independent
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22285683
NCBI chr 7:23,838,993...23,842,514
Ensembl chr 7:23,838,996...23,842,516
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DNAH8
dynein axonemal heavy chain 8
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 7:34,197,185...34,479,640
Ensembl chr 7:34,188,145...34,479,623
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EBAG9
estrogen receptor binding site associated antigen 9
ISO
protein:increased expression:decidua
RGD
PMID:17845206
RGD:2289846
NCBI chr 4:27,986,270...28,013,970
Ensembl chr 4:27,986,866...28,013,945
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EBI3
Epstein-Barr virus induced 3
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr 2:74,530,728...74,540,433
Ensembl chr 2:74,530,730...74,539,583
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EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25230003
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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EDN2
endothelin 2
ISO
RGD
PMID:9015697
RGD:1580919
NCBI chr 6:169,751,956...169,758,011
Ensembl chr 6:169,744,568...169,758,283
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EIF3D
eukaryotic translation initiation factor 3 subunit D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34520790
NCBI chr 5:11,213,312...11,229,158
Ensembl chr 5:11,213,312...11,229,158
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ENG
endoglin
treatment severity
ISO
protein:increased expression:serum (human) protein:increased expression:plasma (mouse) protein:increased expression:serum (rat)
RGD
PMID:20351341 PMID:22308016 PMID:22763474 PMID:23357179 PMID:23460287
RGD:7248767 RGD:7248768 RGD:7248777 RGD:7257524 RGD:7257530
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1
ISO
protein:decreased expression:abdominal fascia:
RGD
PMID:17469012
RGD:9685457
NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,389,010
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EPAS1
endothelial PAS domain protein 1
ISO
RGD
PMID:11159352
RGD:1580974
NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079
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EPHX1
epoxide hydrolase 1
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism
CTD RGD
PMID:11283205 PMID:12173035
RGD:1601064
NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:9158311
RGD:1580990
NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
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ESR2
estrogen receptor 2
ISO
RGD
PMID:15894829
RGD:1581016
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
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F2
coagulation factor II, thrombin
severity
ISO
DNA:polymorphism: :20210G>A(human)
RGD
PMID:16246971
RGD:6893628
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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F2R
coagulation factor II thrombin receptor
ISO
RGD
PMID:12161502
RGD:1581033
NCBI chr 2:85,642,794...85,659,133
Ensembl chr 2:85,641,474...85,656,636
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F3
coagulation factor III, tissue factor
ISO
associated with Fetal Death;protein:increased expression:plasma
RGD
PMID:19736615
RGD:11340220
NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
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F5
coagulation factor V
severity
ISO
DNA:mutation: :1691G>A(human)
RGD
PMID:16246971
RGD:6893628
NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
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FABP4
fatty acid binding protein 4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:19573524
RGD:329845853
NCBI chr 4:55,096,400...55,101,209
Ensembl chr 4:55,096,404...55,101,896
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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 chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FASLG
Fas ligand
susceptibility
ISO
DNA:SNP:intron:124A>G(rs5030772)(human)
RGD
PMID:30066360
RGD:14700669
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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FLT1
fms related receptor tyrosine kinase 1
ISO
mRNA,protein:increased expression:placenta CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15472115 PMID:18679377 PMID:22262697 PMID:28628106
RGD:1582493 RGD:243048428
NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
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GAMT
guanidinoacetate N-methyltransferase
ISO
mRNA:increased expression:placenta
RGD
PMID:31991880
RGD:329961300
NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,759
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GATA2
GATA binding protein 2
onset
ISO
RGD
PMID:30659233
RGD:401850546
NCBI chr13:71,981,139...71,997,626
Ensembl chr13:71,984,067...71,997,619
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GATM
glycine amidinotransferase
ISO
mRNA:increased expression:placenta
RGD
PMID:31991880
RGD:329961300
NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,871
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GC
GC vitamin D binding protein
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:32682061
RGD:401901078
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
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GPX1
glutathione peroxidase 1
ISO
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:18852388 PMID:20303587 PMID:28705740
RGD:401827170 RGD:401827825 RGD:401827849
NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
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GPX3
glutathione peroxidase 3
ISO
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:18852388 PMID:20303587 PMID:28705740
RGD:401827170 RGD:401827825 RGD:401827849
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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GPX4
glutathione peroxidase 4
ISO
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:18852388 PMID:20303587
RGD:401827170 RGD:401827849
NCBI chr 2:77,321,568...77,323,931
Ensembl chr 2:77,320,464...77,323,931
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GSN
gelsolin
disease_progression
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:24239294
RGD:329337339
NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
G
HMOX1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197494
G
HNF1A
HNF1 homeobox A
susceptibility
ISO
associated with gestational diabetes;DNA:SNP:cd: p.I27L (rs1169288) (human)
RGD
PMID:31825269
RGD:329901812
NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
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HP
haptoglobin
severity
ISO
protein:increased expression DNA:polymorphism
RGD
PMID:16879055 PMID:17220952
RGD:1626337 RGD:1626343
NCBI chr 6:14,980,382...14,985,245
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HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
susceptibility
ISO
DNA:SNPs,haplotype: (rs2235543,rs846910) (human)
RGD
PMID:23659736
RGD:329901926
NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
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ICAM1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:21830843
RGD:8547718
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum (human)
RGD
PMID:21126355
RGD:6906962
G
IL6
interleukin 6
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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INHBA
inhibin subunit beta A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17332518
NCBI chr12:53,115,379...53,117,128 NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967
G
ISCU
iron-sulfur cluster assembly enzyme
ISO
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr14:42,216,103...42,222,570
Ensembl chr14:42,216,111...42,222,711
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ITGA4
integrin subunit alpha 4
ISO
protein:increased expression:blood, granulocyte (rat)
RGD
PMID:10694336
RGD:9698441
NCBI chr15:86,942,054...87,028,428
Ensembl chr15:86,947,240...87,030,364
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ITGAM
integrin subunit alpha M
ISO
DNA:missense mutations:CDS:p.M441K (rs1143680), p.T1000N (rs41321249) (human) protein:increased expression:neutrophil (human) associated with Fetal Growth Retardation;mRNA:decreased expression:placenta (human)
RGD
PMID:18437152 PMID:32014817 PMID:33539617
RGD:329853770 RGD:329901659 RGD:329901825
NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,273,613
G
ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
G
ITPR2
inositol 1,4,5-trisphosphate receptor type 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 5:46,935,923...47,465,681
Ensembl chr 5:46,935,932...47,464,125
G
ITPR3
inositol 1,4,5-trisphosphate receptor type 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 7:29,835,922...29,901,305
Ensembl chr 7:29,835,922...29,901,309
G
KCNN4
potassium calcium-activated channel subfamily N member 4
ISO
protein:decreased expression:umbilical artery,umbilical vein (human)
RGD
PMID:23261940
RGD:329955574
NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
G
LCN2
lipocalin 2
ISO
protein:increased expression:serum,urine
RGD
PMID:23957217
RGD:126781721
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
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LEP
leptin
ISO
protein:decreased expression:plasma
RGD
PMID:16021089
RGD:5128718
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
G
LEPR
leptin receptor
ISO
protein:increased expression:placenta
RGD
PMID:16021089
RGD:5128718
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
G
LOC100739508
glutathione S-transferase P-like
susceptibility
ISO
DNA:missense mutation:cds:p.I105V (human)
RGD
PMID:11826024
RGD:737707
NCBI chr 2:5,005,498...5,009,247
G
LOC110261221
cytochrome P450 2J2-like
ISO
mRNA:increased expression:placenta, decidua
RGD
PMID:23155181
RGD:7243127
NCBI chr 6:152,321,816...152,358,179
Ensembl chr 6:152,321,848...152,648,979
G
MIR126
microRNA mir-126
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274 PMID:30659233
RGD:155882496 RGD:401850546
G
MIR144
microRNA mir-144
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr12:45,088,958...45,089,033
Ensembl chr12:45,088,959...45,089,035
G
MIR148A
microRNA mir-148a
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr18:46,415,213...46,415,280
Ensembl chr18:46,415,202...46,415,281
G
MIR152
microRNA mir-152
ISO
miRNA:increased expression:placenta miRNA:increased expression:blood serum (human)
RGD
PMID:25017274 PMID:31114978
RGD:155882496 RGD:21066344
NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336
G
MIR155
microRNA mir-155
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:28700503
RGD:155882490
NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
G
MIR15B
microRNA mir-15b
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr13:100,083,172...100,083,269
Ensembl chr13:100,083,172...100,083,269
G
MIR193A
microRNA mir-193a
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr12:43,336,969...43,337,048
Ensembl chr12:43,336,969...43,337,048
G
MIR204
microRNA mir-204
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 1:224,065,494...224,065,602
Ensembl chr 1:224,065,494...224,065,602
G
MIR216-1
microRNA mir-216-1
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr 3:85,334,523...85,334,627
Ensembl chr 3:85,334,523...85,334,627
G
MIR32
microRNA mir-32
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 1:250,115,904...250,115,973
Ensembl chr 1:250,115,904...250,115,973
G
MIR335
microRNA mir-335
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr18:18,341,580...18,341,659
Ensembl chr18:18,341,568...18,341,659
G
MIR423
microRNA mir-423
ISO
miRNA:increased expression:plasma
RGD
PMID:30587375
RGD:158014896
NCBI chr12:46,211,525...46,211,604
Ensembl chr12:46,211,525...46,211,611
G
MMP2
matrix metallopeptidase 2
ISO
mRNA, protein:decreased expression:placenta
RGD
PMID:17083831
RGD:2290399
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
G
MMP9
matrix metallopeptidase 9
ISO
mRNA, protein:decreased expression:placenta
RGD
PMID:17083831 PMID:23776237
RGD:13204787 RGD:2290399
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
G
NOS3
nitric oxide synthase 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29250138
RGD:13504712
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
G
NOTCH2
notch receptor 2
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195
G
NR1H3
nuclear receptor subfamily 1 group H member 3
exacerbates
ISO
mRNA, protein:increased expression:placenta (human) mRNA:altered expression:placenta, adipose tissue (human)
RGD
PMID:20655109 PMID:28352810
RGD:401842369 RGD:401850787
NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820
G
NSD1
nuclear receptor binding SET domain protein 1
ISO
ClinVar Annotator: match by term: Preeclampsia
ClinVar
PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 PMID:21196496 PMID:24412544 PMID:25741868 PMID:26690673 PMID:27834868 PMID:28492532 PMID:30719864 More...
NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059
G
OGG1
8-oxoguanine DNA glycosylase
ISO
mRNA:increased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr13:66,038,669...66,045,478
G
PDCD1
programmed cell death 1
treatment
ISO
protein:increased expression:Treg cell
RGD
PMID:27277012
RGD:40886269
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
G
PDE5A
phosphodiesterase 5A
ISO
RGD
PMID:18538317
RGD:2314465
NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,953
G
PEG10
paternally expressed 10
onset
ISO
mRNA, protein:increased expression:placenta (human) mRNA, protein:decreased expression:placenta (human)
RGD
PMID:22137777 PMID:25526181 PMID:37464405
RGD:401851069 RGD:401851073 RGD:401851074
NCBI chr 9:74,474,121...74,486,983
Ensembl chr 9:74,474,107...74,486,979
G
PGF
placental growth factor
ISO
RGD
PMID:20720407 PMID:21756887
RGD:6483577 RGD:6483779
NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
G
PLAUR
plasminogen activator, urokinase receptor
ISO
protein:increased expression:plasma
RGD
PMID:21722073
RGD:6484119
NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
G
PML
PML nuclear body scaffold
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:20228380
RGD:41404689
NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105
G
PPARG
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15562025 PMID:34995009
RGD:1580687
NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
G
PROC
protein C, inactivator of coagulation factors Va and VIIIa
ISO
RGD
PMID:9065198
RGD:11564336
NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,043,545...25,056,595
G
PTGS1
prostaglandin-endoperoxide synthase 1
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
G
PTPN2
protein tyrosine phosphatase non-receptor type 2
disease_progression
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:27746364
RGD:155260325
NCBI chr 6:96,769,862...96,847,136
Ensembl chr 6:96,770,253...96,847,125
G
RARRES2
retinoic acid receptor responder 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr18:55,903,693...55,906,976
Ensembl chr18:55,903,699...55,906,945
G
RBP4
retinol binding protein 4
disease_progression
ISO
protein:decreased expression:umbilical cord,blood serum (human) protein:increased expression:blood serum (human)
RGD
PMID:21173508 PMID:21299359
RGD:329845578 RGD:329845866
NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
G
ROBO1
roundabout guidance receptor 1
ISO
mRNA,protein:increased expression:placenta
RGD
PMID:22262697
RGD:243048428
NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481
G
ROBO4
roundabout guidance receptor 4
ISO
mRNA,protein:increased expression:placenta
RGD
PMID:22262697
RGD:243048428
NCBI chr 9:52,083,757...52,097,784
Ensembl chr 9:52,083,760...52,097,736
G
RYR1
ryanodine receptor 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
G
RYR2
ryanodine receptor 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063
G
RYR3
ryanodine receptor 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
G
S100G
S100 calcium binding protein G
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr X:13,107,611...13,114,213
Ensembl chr X:13,107,402...13,114,213
G
SCNN1A
sodium channel epithelial 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16555725
NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612
G
SERPINA1
serpin family A member 1
ISO
RGD
PMID:1852102
RGD:1643155
NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645
G
SERPINE1
serpin family E member 1
ISO
mRNA:increased expression:blood: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16952198 PMID:18679377
RGD:2292128
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
G
SERPINF2
serpin family F member 2
ISO
protein:increased expression:urine
RGD
PMID:1334334
RGD:1625535
NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,285
G
SLC2A1
solute carrier family 2 member 1
ISO
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867
G
STOX1
storkhead box 1
no_association
ISO
human fetally expressed gene in a mouse model DNA:missense mutation:cds:p.Y153H (human)
RGD
PMID:15806103 PMID:17617193 PMID:23357179
RGD:11553888 RGD:11553890 RGD:7248768
NCBI chr14:71,927,387...71,985,239
Ensembl chr14:71,928,399...71,985,233
G
TFPI
tissue factor pathway inhibitor
ISO
protein:increased expression:plasma:
RGD
PMID:10078579
RGD:11060132
NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
G
TIMP1
TIMP metallopeptidase inhibitor 1
ISO
mRNA, protein:increased expression:placenta
RGD
PMID:17083831
RGD:2290399
NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296
G
TLR3
toll like receptor 3
ISO
protein:increased expression:placenta (rat)
RGD
PMID:19779466
RGD:5128769
NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
G
TLR4
toll like receptor 4
ISO
RGD
PMID:16157088
RGD:1580682
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
G
TNF
tumor necrosis factor
ameliorates
ISO
RGD
PMID:15901845 PMID:31203154
RGD:1580314 RGD:213230155
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
G
TNFRSF1B
TNF receptor superfamily member 1B
ISO
human protein in rat model
RGD
PMID:21505354
RGD:5131211
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
G
TRPV5
transient receptor potential cation channel subfamily V member 5
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr18:7,285,186...7,341,965
Ensembl chr18:7,284,589...7,318,392
G
UTS2
urotensin 2
ISO
RGD
PMID:15866083
RGD:1580806
NCBI chr 6:68,552,889...68,560,827
Ensembl chr 6:68,552,887...68,559,674
G
VDR
vitamin D receptor
ISO
associated with Premature Birth; mRNA:increased expression:placenta (human) protein:decreased expression:placenta (human) mRNA:decreased expression:placenta (human)
RGD
PMID:22871339 PMID:32682061 PMID:36477942
RGD:401901075 RGD:401901078 RGD:401901174
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
G
VEGFA
vascular endothelial growth factor A
ISO
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:16517614 PMID:22840297
RGD:155631283 RGD:1580566
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
G
STOX1
storkhead box 1
ISO
ClinVar Annotator: match by term: Preeclampsia/eclampsia 4
OMIM ClinVar
PMID:15806103 PMID:17325670 PMID:33116287
NCBI chr14:71,927,387...71,985,239
Ensembl chr14:71,928,399...71,985,233
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 chr 8:37,530,812...37,811,226
Ensembl chr 8:37,530,815...37,809,761
G
PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:22534418
RGD:6771230
NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
G
REN
renin
ISO
protein:increased activity:blood plasma (human)
RGD
PMID:683663
RGD:125097480
NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
G
APOE
apolipoprotein E
treatment
ISO
RGD
PMID:22341339
RGD:12904700
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
G
ANGPT2
angiopoietin 2
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma
RGD
PMID:15209761
RGD:2313816
NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
G
APOH
apolipoprotein H
ISO
RGD
PMID:11795690
RGD:2313988
NCBI chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
G
BRCC3
BRCA1/BRCA2-containing complex subunit 3
ISO
mRNA:increased expression:embryo:
RGD
PMID:18323671
RGD:9586066
NCBI chr X:125,383,392...125,439,082
Ensembl chr X:125,383,414...125,439,082
G
ENG
endoglin
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum
RGD
PMID:18985316
RGD:2313806
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
G
FGF2
fibroblast growth factor 2
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:14706681
RGD:2315876
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
G
GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo
RGD
PMID:12716756
RGD:2315979
NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
G
GC
GC vitamin D binding protein
ISO
protein:decreased expression:plasma
RGD
PMID:3948765
RGD:2315537
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
G
GHRL
ghrelin and obestatin prepropeptide
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma
RGD
PMID:19046237
RGD:2313747
NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
G
PAPPA
pappalysin 1
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum
RGD
PMID:9512318
RGD:2313777
NCBI chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,760
G
VCAM1
vascular cell adhesion molecule 1
ISO
RGD
PMID:20129688
RGD:7241238
NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
G
VEGFA
vascular endothelial growth factor A
ISO
protein:decreased expression:plasma, placenta,embryo:
RGD
PMID:19048427
RGD:7483562
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
G
IL10
interleukin 10
ISO
RGD
PMID:24717969
RGD:11041890
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
G
ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
ISO
RGD
PMID:17977916
RGD:8548898
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
G
ACE2
angiotensin converting enzyme 2
ISO
RGD
PMID:17977916
RGD:8548898
NCBI chr X:12,099,849...12,152,204
Ensembl chr X:12,093,242...12,151,286
G
AGT
angiotensinogen
ISO
RGD
PMID:17977916
RGD:8548898
NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
G
EDN1
endothelin 1
no_association
ISO
DNA:transversion:exon:p.K198N rs5370 (human)
RGD
PMID:11593097 PMID:19730395
RGD:4145063 RGD:4145070
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
G
GPX3
glutathione peroxidase 3
ISO
protein:increased expression:plasma
RGD
PMID:8244188
RGD:401827853
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
G
HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:21383306
RGD:10755723
G
HP
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 6:14,980,382...14,985,245
G
NOS3
nitric oxide synthase 3
ISO
ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to
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 PMID:25741868 More...
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
G
RBP4
retinol binding protein 4
ISO
protein:increased expression, decreased expression:blood serum, umbilical cord blood (human)
RGD
PMID:19708176
RGD:329849109
NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
G
TFPI
tissue factor pathway inhibitor
ISO
mRNA:decreased expression:aorta:
RGD
PMID:26104991
RGD:11062065
NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
G
TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:18981324
RGD:13825265
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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 More...
NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
G
CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26055944
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
G
COL1A1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:8364588 PMID:25741868
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
G
EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25230003
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
G
FTO
FTO alpha-ketoglutarate dependent dioxygenase
ISO
DNA:SNP: :rs9939609 (human)
RGD
PMID:27768255
RGD:329845883
NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718
G
IL4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26055944
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
G
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26055944
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
LTF
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
G
MBL2
mannose binding lectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16912583
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
G
MMP9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24429678
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MT-ATP6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
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MT-ATP8
mitochondrially encoded ATP synthase membrane subunit 8
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162
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MT-CO1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
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MT-CO2
mitochondrially encoded cytochrome c oxidase II
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890
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MT-CO3
mitochondrially encoded cytochrome c oxidase III
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
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MT-ND3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998
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MT-ND4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736
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MT-ND5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755
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ND2
NADH dehydrogenase subunit 2
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128
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ND4L
NADH dehydrogenase subunit 4L
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365
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OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29709520
NCBI chr13:66,038,669...66,045,478
G
PGF
placental growth factor
ISO
RGD
PMID:20822327
RGD:6483609
NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
G
PIGL
phosphatidylinositol glycan anchor biosynthesis class L
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 PMID:29473937 PMID:31535386 More...
NCBI chr12:59,217,267...59,256,896
Ensembl chr12:59,201,556...59,256,829
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26055944 PMID:27748297
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
G
SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26055944
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27748297
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
G
VARS1
valyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Premature birth
ClinVar
PMID:25741868 PMID:30275004
NCBI chr 7:23,886,132...23,899,265
Ensembl chr 7:23,886,138...23,899,738
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CCL2
chemokine (C-C motif) ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18606702
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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GJB2
gap junction protein beta 2
ISO
RGD
PMID:8612484
RGD:11568660
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
G
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20610570 PMID:22122352
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
treatment
ISO
associated with hypertension
RGD
PMID:30127255
RGD:401793709
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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ACE2
angiotensin converting enzyme 2
treatment
ISO
associated with maternal adenine induced chronic kidney disease
RGD
PMID:32604820
RGD:401793718
NCBI chr X:12,099,849...12,152,204
Ensembl chr X:12,093,242...12,151,286
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ADAM10
ADAM metallopeptidase domain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32715474
NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,209...113,412,798
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ADH4
alcohol dehydrogenase 4 (class II), pi polypeptide
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:22781937
RGD:405100969
NCBI chr 8:121,225,485...121,259,262 NCBI chr X:98,582,002...98,583,002
Ensembl chr 8:121,225,656...121,261,746
G
ADORA1
adenosine A1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19092996
NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
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AGT
angiotensinogen
treatment
ISO
associated with maternal adenine induced chronic kidney disease
RGD
PMID:32604820
RGD:401793718
NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
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AGTR1
angiotensin II receptor type 1
treatment
ISO
associated with hypertension
RGD
PMID:30127255
RGD:401793709
NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
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AGTR2
angiotensin II receptor type 2
treatment
ISO
associated with maternal adenine induced chronic kidney disease
RGD
PMID:32604820
RGD:401793718
NCBI chr X:95,267,709...95,272,237
Ensembl chr X:95,269,300...95,270,388
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AHR
aryl hydrocarbon receptor
treatment
ISO
associated with hypertension
RGD
PMID:30127255 PMID:31489946
RGD:401793709 RGD:401793758
NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
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AHRR
aryl hydrocarbon receptor repressor
treatment
ISO
associated with hypertension associated with maternal adenine induced chronic kidney disease
RGD
PMID:30127255 PMID:31489946 PMID:32604820
RGD:401793709 RGD:401793718 RGD:401793758
NCBI chr16:79,730,920...79,810,183
Ensembl chr16:79,730,926...79,810,188
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ANK3
ankyrin 3
susceptibility
ISO
DNA:SNP: : rs9804190(human)
RGD
PMID:27824361
RGD:153344561
NCBI chr14:63,416,154...63,809,220
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ARNT
aryl hydrocarbon receptor nuclear translocator
treatment
ISO
RGD
PMID:31489946
RGD:401793758
NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457
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ASIP
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr17:37,542,615...37,718,787
Ensembl chr17:37,545,474...37,718,779
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ATM
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21177254
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
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ATP6AP2
ATPase H+ transporting accessory protein 2
treatment
ISO
associated with maternal adenine induced chronic kidney disease
RGD
PMID:32604820
RGD:401793718
NCBI chr X:36,271,154...36,300,240
Ensembl chr X:36,271,222...36,304,181
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BDNF
brain derived neurotrophic factor
sexual_dimorphism
ISO
mRNA:altered expression:hippocampus|hypothalamus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
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BMP2
bone morphogenetic protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29800642
NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,195
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CBS
cystathionine beta-synthase
sexual_dimorphism
ISO
mRNA:altered expression:hippocampus|hypothalamus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258935
NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
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CREB1
cAMP responsive element binding protein 1
ISO
associated with morphine withdrawal disorder
RGD
PMID:33915201
RGD:401959752
NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,705,496...110,771,728
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CRHR1
corticotropin releasing hormone receptor 1
sexual_dimorphism
ISO
mRNA:altered expr:brain (rat)
RGD
PMID:29990678
RGD:401976282
NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
treatment
ISO
associated with hypertension
RGD
PMID:30127255 PMID:31489946
RGD:401793709 RGD:401793758
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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CYP2D6
cytochrome P450 family 2 subfamily D member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15570195
NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:22781937
RGD:405100969
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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EGR1
early growth response 1
ISO
protein:decreased expression:hippocampus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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FGF2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19014962
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26411935
NCBI chr 6:51,836,780...51,844,531
Ensembl chr 6:51,837,719...51,844,529
G
MAOA
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22340208
NCBI chr X:38,930,452...39,006,220
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MAS1
MAS1 proto-oncogene, G protein-coupled receptor
treatment
ISO
associated with maternal adenine induced chronic kidney disease
RGD
PMID:32604820
RGD:401793718
NCBI chr 1:7,527,566...7,542,110
Ensembl chr 1:7,527,861...7,528,838
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MAT2A
methionine adenosyltransferase 2A
sexual_dimorphism
ISO
mRNA:altered expression:hippocampus|hypothalamus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr 3:59,220,203...59,225,097
Ensembl chr 3:59,218,688...59,225,249
G
MTHFR
methylenetetrahydrofolate reductase
sexual_dimorphism
ISO
mRNA:altered expression:hippocampus|hypothalamus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
G
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
sexual_dimorphism
ISO
mRNA:altered expression:hippocampus|hypothalamus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763
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MYOD1
myogenic differentiation 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258934
NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435
G
NOS1
nitric oxide synthase 1
treatment
ISO
RGD
PMID:31489946
RGD:401793758
NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
G
NOS3
nitric oxide synthase 3
treatment
ISO
RGD
PMID:31489946
RGD:401793758
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
G
NOTCH2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32715474
NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195
G
NR3C1
nuclear receptor subfamily 3 group C member 1
sexual_dimorphism
ISO
mRNA:altered expression:hippocampus|hypothalamus (rat) mRNA:altered expr:brain (rat) associated with stress-related disorder; mRNA:decreased expression:hippocampus (rat) associated with chronic stress, female fetus; protein:decreased expression:prefrontal cortex (rat) associated with prenatal alcohol exposure, female; mRNA:decreased expression:hippocampus (rat)
RGD
PMID:16925589 PMID:26180184 PMID:26342748 PMID:29990678 PMID:30367959
RGD:11074449 RGD:401965481 RGD:401966864 RGD:401976282 RGD:401976289
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
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NR3C2
nuclear receptor subfamily 3 group C member 2
sexual_dimorphism
ISO
mRNA:altered expression:hippocampus|hypothalamus (rat) mRNA:altered expr:brain (rat) associated with stress-related disorder; mRNA:decreased expression:hippocampus (rat) associated with females; mRNA:decreased expression:hippocampus (rat) associated with chronic stress, female fetus; protein:increased expression:hippocampus, amygdala (rat)
RGD
PMID:16925589 PMID:23579081 PMID:26180184 PMID:26342748 PMID:29990678
RGD:11074449 RGD:401965481 RGD:401976282 RGD:401976289 RGD:401976414
NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412
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NRGN
neurogranin
ISO
RGD
PMID:17579784
RGD:9835426
NCBI chr 9:51,967,313...51,977,197
Ensembl chr 9:51,969,823...51,977,228
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OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18768699
NCBI chr13:66,038,669...66,045,478
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PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25463530 PMID:28396702
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
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PPARA
peroxisome proliferator activated receptor alpha
treatment
ISO
RGD
PMID:31489946
RGD:401793758
NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
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REN
renin
treatment
ISO
associated with hypertension associated with maternal adenine induced chronic kidney disease
RGD
PMID:30127255 PMID:32604820
RGD:401793709 RGD:401793718
NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
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SIGMAR1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15451042
NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718
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SLC6A4
solute carrier family 6 member 4
sexual_dimorphism
ISO
DNA:altered methylation:hypothalamus (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
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ACHE
acetylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14657522
NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605
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ATP7A
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25456742
NCBI chr X:61,972,544...62,110,058
Ensembl chr X:61,972,991...62,110,048
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LOX
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20045017
NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594
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LOXL1
lysyl oxidase like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20045017
NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149
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OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24075420
NCBI chr13:66,038,669...66,045,478
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PRSS8
serine protease 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24722141
NCBI chr 3:17,357,793...17,362,223
Ensembl chr 3:17,357,802...17,362,220
G
ROCK1
Rho associated coiled-coil containing protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18956198
NCBI chr 6:106,163,899...106,314,998
Ensembl chr 6:106,163,989...106,314,944
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ROCK2
Rho associated coiled-coil containing protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18956198
NCBI chr 3:125,353,063...125,493,368
Ensembl chr 3:125,352,920...125,493,362
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SLC39A4
solute carrier family 39 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17483098
NCBI chr 4:372,681...378,519
Ensembl chr 4:372,660...378,516
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SPINT2
serine peptidase inhibitor, Kunitz type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24722141
NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,559
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YES1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr 6:105,505,944...105,600,694
Ensembl chr 6:105,505,479...105,600,687
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CNOT1
CCR4-NOT transcription complex subunit 1
ISO
ClinVar Annotator: match by term: Preterm intraventricular hemorrhage
ClinVar
PMID:25741868
NCBI chr 6:20,271,593...20,372,300
Ensembl chr 6:20,271,596...20,372,245
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GSN
gelsolin
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:28755273
RGD:329337382
NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
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SEMA6B
semaphorin 6B
ISO
ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage
ClinVar
PMID:31474318
NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385
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F3
coagulation factor III, tissue factor
ISO
protein:increased expression:plasma
RGD
PMID:19012190
RGD:11340215
NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
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MMP1
matrix metallopeptidase 1
ISO
ClinVar Annotator: match by term: Preterm premature rupture of the membranes
ClinVar
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
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MMP8
matrix metallopeptidase 8
ISO
ClinVar Annotator: match by term: Preterm premature rupture of the membranes
ClinVar
PMID:15367487
NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947
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SERPINH1
serpin family H member 1
susceptibility
ISO
ClinVar Annotator: match by term: Preterm premature rupture of the membranes
ClinVar OMIM
PMID:16938879 PMID:25741868 PMID:28492532 PMID:32161841
NCBI chr 9:9,782,939...9,794,485
Ensembl chr 9:9,783,042...9,794,483
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TFPI
tissue factor pathway inhibitor
ISO
protein:decreased expression:plasma
RGD
PMID:19012190
RGD:11340215
NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
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PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18926768
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
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CENPJ
centromere protein J
ISO
ClinVar Annotator: match by term: Seckel syndrome 4
OMIM ClinVar
PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 PMID:20978018 PMID:24033266 PMID:24402816 PMID:25741868 PMID:25741913 PMID:26467025 PMID:26752647 PMID:28492532 More...
NCBI chr11:289,660...357,920
Ensembl chr11:289,653...355,581
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RNF17
ring finger protein 17
ISO
ClinVar Annotator: match by term: Seckel syndrome 4
ClinVar
PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 PMID:25741913 PMID:26467025 PMID:28492532 More...
NCBI chr11:154,457...281,039
Ensembl chr11:154,458...281,032
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ACVR1
activin A receptor type 1
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,750,796...64,891,544
G
APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
susceptibility
ISO
DNA:polymorphism::p.D148E (human)
RGD
PMID:24619222
RGD:401850778
NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938
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COL4A2
collagen type IV alpha 2 chain
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614
G
ERAP1
endoplasmic reticulum aminopeptidase 1
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
G
ERAP2
endoplasmic reticulum aminopeptidase 2
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 2:103,510,425...103,563,482
Ensembl chr 2:103,510,441...103,564,437
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GPX3
glutathione peroxidase 3
ISO
protein:increased expression:plasma
RGD
PMID:8476834
RGD:401827852
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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LNPEP
leucyl and cystinyl aminopeptidase
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 2:103,568,366...103,659,589
Ensembl chr 2:103,567,602...103,661,070
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MIR155
microRNA mir-155
severity
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:31487655
RGD:155582220
NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
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RBP4
retinol binding protein 4
severity
ISO
protein:increased expression:blood serum (human) protein:decreased expression:blood serum (human)
RGD
PMID:19573524 PMID:27279411 PMID:31949674
RGD:329845847 RGD:329845853 RGD:329845859
NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
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IGF2
insulin like growth factor 2
ISO
ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3
OMIM ClinVar
PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 PMID:30400067 More...
NCBI chr 2:1,469,183...1,496,417
G
ACE2
angiotensin converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr X:12,099,849...12,152,204
Ensembl chr X:12,093,242...12,151,286
G
ACKR4
atypical chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr13:73,773,862...73,777,770
Ensembl chr13:73,772,392...73,777,805
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AGTR1
angiotensin II receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
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AHR
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26593447
NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
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APOE
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22266326
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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ARNT
aryl hydrocarbon receptor nuclear translocator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457
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CCL5
C-C motif chemokine ligand 5
ISO
associated with Pregnancy in Diabetics;protein:decreased expression:serum
RGD
PMID:17924206
RGD:2307065
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CD163
CD163 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CD164
CD164 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:75,441,568...75,458,140
Ensembl chr 1:75,441,575...75,458,145
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CD226
CD226 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:152,872,878...152,977,162
Ensembl chr 1:152,882,762...152,979,845
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CD68
CD68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
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CD69
CD69 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 5:62,078,134...62,084,961
Ensembl chr 5:62,077,988...62,085,900
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CD7
CD7 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:740,345...744,876
G
CD82
CD82 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20075392
NCBI chr 2:17,751,153...17,803,172
Ensembl chr 2:17,750,660...17,803,126
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CD84
CD84 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 4:89,932,020...89,980,476
Ensembl chr 4:89,932,229...89,969,665
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CD8A
CD8 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
G
CEACAM1
CEA cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 6:49,437,308...49,460,614
G
CHIA
chitinase acidic
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 4:109,035,323...109,046,499
Ensembl chr 4:109,035,326...109,046,499
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COL13A1
collagen type XIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr14:72,786,780...72,953,093
Ensembl chr14:72,787,303...72,953,095
G
COL1A1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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COL1A2
collagen type I alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
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COL4A6
collagen type IV alpha 6 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr X:88,634,925...88,750,938
Ensembl chr X:88,634,930...88,957,416
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COL5A1
collagen type V alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111
G
COL5A2
collagen type V alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191
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COL6A3
collagen type VI alpha 3 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709
G
COL9A2
collagen type IX alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 6:96,065,282...96,081,547
G
CRISP3
cysteine-rich secretory protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 7:43,777,035...43,804,624
Ensembl chr 7:43,777,061...43,804,549
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
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CSRNP3
cysteine and serine rich nuclear protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832
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CXCL10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
G
CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19022366 PMID:26593447
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
G
DHFR
dihydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 2:89,230,660...89,255,830
G
ECM1
extracellular matrix protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 4:98,615,776...98,633,081
Ensembl chr 4:98,615,778...98,621,836
G
ECM2
extracellular matrix protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 3:42,205,246...42,243,746
Ensembl chr 3:42,203,171...42,243,547
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EFTUD2
elongation factor Tu GTP binding domain containing 2
ISO
protein:increased expression:trophoblast, decidua:
RGD
PMID:32447180
RGD:155791666
NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479
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EMP1
epithelial membrane protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 5:59,245,317...59,267,466
Ensembl chr 5:59,244,691...59,268,025
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F11
coagulation factor XI
ISO
protein:increased activity:blood:
RGD
PMID:25517908
RGD:11041767
NCBI chr17:9,045,990...9,073,552
Ensembl chr17:9,046,002...9,073,520
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F12
coagulation factor XII
ISO
protein:decreased activity: :
RGD
PMID:24597288
RGD:11041799
NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828
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F13A1
coagulation factor XIII A chain
ISO
RGD
PMID:12933578
RGD:10450744
NCBI chr 7:3,751,290...3,900,797
Ensembl chr 7:3,751,292...3,900,762
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F2
coagulation factor II, thrombin
ISO
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2
ClinVar
PMID:2222810 PMID:2429850 PMID:6305407 PMID:8696333 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:15059842 PMID:15534175 PMID:16493002 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 More...
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:12579195
RGD:1300308
NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
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FETUB
fetuin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr13:124,480,456...124,494,197
Ensembl chr13:124,460,272...124,494,196
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FGF7
fibroblast growth factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750
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FLRT3
fibronectin leucine rich transmembrane protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr17:22,940,491...22,955,277
Ensembl chr17:22,940,492...22,954,424
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FN1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
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FST
follistatin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,932...32,811,421
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GLS
glutaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr15:95,513,414...95,606,029
Ensembl chr15:95,513,446...95,598,311
G
HABP2
hyaluronan binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr14:123,893,990...123,929,445
Ensembl chr14:123,893,996...123,932,961
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HSD17B1
hydroxysteroid 17-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:20,269,468...20,271,349
Ensembl chr12:20,269,056...20,271,548
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IFI35
interferon induced protein 35
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:19,879,386...19,890,330
Ensembl chr12:19,879,387...19,890,314
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IFI44
interferon induced protein 44
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 6:134,634,679...134,649,857
Ensembl chr 6:134,633,615...134,650,203
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IFI6
interferon alpha inducible protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 6:84,852,782...84,858,072
Ensembl chr 6:84,852,793...84,857,982
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IGF1
insulin like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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IGF2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 2:1,469,183...1,496,417
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IGFBP1
insulin like growth factor binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799
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IGFBP3
insulin like growth factor binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
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IGFBP6
insulin like growth factor binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 5:18,352,884...18,357,225
Ensembl chr 5:18,352,400...18,357,225
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IL11
interleukin 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 6:59,540,482...59,544,909
Ensembl chr 6:59,541,213...59,544,896
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IL12B
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
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IL16
interleukin 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346
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IL20RA
interleukin 20 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:27,137,545...27,172,341
Ensembl chr 1:27,137,558...27,172,720
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IL24
interleukin 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 9:67,525,246...67,532,407
Ensembl chr 9:67,525,557...67,530,738
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IL5RA
interleukin 5 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr13:59,651,184...59,692,211
Ensembl chr13:59,652,271...59,690,176
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL9
interleukin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 2:138,048,943...138,052,588
Ensembl chr 2:138,048,943...138,052,588
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INHA
inhibin subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006
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ITGA2
integrin subunit alpha 2
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse)
RGD
PMID:19321657
RGD:2307421
NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
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ITGB4
integrin subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611
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ITGB6
integrin subunit beta 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234
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JAK2
Janus kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17989398
NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
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KLK10
kallikrein related peptidase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 6:55,673,508...55,677,725
Ensembl chr 6:55,673,439...55,677,725
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LAMA4
laminin subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365
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LGALS3
galectin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
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LIF
LIF interleukin 6 family cytokine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr14:47,221,540...47,239,513
Ensembl chr14:47,221,560...47,238,749
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LOC100623720
collagen alpha-1(VI) chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127
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LOC110258578
interleukin-1 beta-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
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LOC110261636
serpin B3-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:158,073,431...158,079,267
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MAP2
microtubule associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929
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MAPRE3
microtubule associated protein RP/EB family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 3:112,084,467...112,136,079
Ensembl chr 3:112,084,469...112,136,061
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MBL2
mannose binding lectin 2
ISO
DNA:polymorphisms:multiple:
RGD
PMID:18927129
RGD:12910825
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MGAT2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:179,478,464...179,479,804
Ensembl chr 1:179,477,992...179,479,801
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MGP
matrix Gla protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764
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MMP11
matrix metallopeptidase 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,687...49,912,617
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MMP12
matrix metallopeptidase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679
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MMP15
matrix metallopeptidase 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 6:19,890,867...19,912,941
Ensembl chr 6:19,891,107...19,912,913
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MMP19
matrix metallopeptidase 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 5:21,279,514...21,285,943
Ensembl chr 5:21,280,130...21,285,774
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MMP7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
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MUC4
mucin 4, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr13:134,192,412...134,248,435
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NCAM1
neural cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
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PAEP
progestagen associated endometrial protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
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PGF
placental growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
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PRLR
prolactin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr16:20,637,568...20,655,881
Ensembl chr16:20,618,875...20,810,140
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PTGIS
prostaglandin I2 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300
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PTHLH
parathyroid hormone like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415
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RBP4
retinol binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
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SDF2L1
stromal cell derived factor 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr14:50,249,607...50,251,636
Ensembl chr14:50,246,710...50,251,642
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SPAG5
sperm associated antigen 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:44,827,947...44,848,527
Ensembl chr12:44,827,949...44,848,566
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SST
somatostatin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr13:125,337,560...125,338,742
Ensembl chr13:125,337,418...125,338,850
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TFRC
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276
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TGFB1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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TGFBI
transforming growth factor beta induced
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
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TGFBR1
transforming growth factor beta receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834
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TIMP3
TIMP metallopeptidase inhibitor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581
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TNFSF10
TNF superfamily member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324
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TNFSF13
TNF superfamily member 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,904...52,857,029
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TNR
tenascin R
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 9:117,365,930...117,790,332
Ensembl chr 9:117,373,545...117,771,224
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TRAF1
TNF receptor associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:260,948,191...260,973,978
Ensembl chr 1:260,949,111...260,973,709
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PIBF1
progesterone immunomodulatory binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15760377
NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,062...45,362,887
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NELFE
negative elongation factor complex member E
ISO
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
ClinVar
NCBI chr 7:24,040,525...24,046,932
Ensembl chr 7:24,040,525...24,047,025
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SKIC2
SKI2 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
ClinVar
PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 PMID:28496993 PMID:29527791 PMID:31681265 PMID:33098347 PMID:33249554 PMID:35607352 More...
NCBI chr 7:24,047,000...24,057,621
Ensembl chr 7:24,047,010...24,057,621
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SKIC3
SKI3 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 PMID:25714577 PMID:25741868 PMID:27302973 PMID:28492532 PMID:29527791 PMID:34037310 PMID:35108801 PMID:35464432 More...
NCBI chr 2:102,079,675...102,164,020
Ensembl chr 2:102,079,685...102,163,938
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AGK
acylglycerol kinase
ISO
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1
ClinVar
PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 PMID:25741868 PMID:26633545 PMID:28492532 PMID:28868593 More...
NCBI chr18:8,263,761...8,369,060
Ensembl chr18:8,263,896...8,368,972
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SKIC3
SKI3 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1
OMIM ClinVar
PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27302973 PMID:28292286 PMID:28492532 PMID:28750028 PMID:29527791 PMID:33864888 PMID:34093558 PMID:35108801 PMID:35366317 More...
NCBI chr 2:102,079,675...102,164,020
Ensembl chr 2:102,079,685...102,163,938
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SKIC2
SKI2 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2
OMIM ClinVar
PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27050310 PMID:27431780 PMID:28492532 PMID:28496993 PMID:29527791 PMID:31681265 PMID:32313153 PMID:32963807 PMID:33098347 PMID:33249554 PMID:35607352 More...
NCBI chr 7:24,047,000...24,057,621
Ensembl chr 7:24,047,010...24,057,621
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ANG
angiogenin
ISO
protein:increased expression:serum
RGD
PMID:12705339
RGD:2325706
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
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COL1A1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome
ClinVar
PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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POLR3A
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome
OMIM ClinVar
PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22855961 PMID:23355746 PMID:23965854 PMID:25339210 PMID:25741868 PMID:25898808 PMID:27029625 PMID:27612211 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 PMID:31940116 PMID:32214227 PMID:32373668 PMID:32555393 PMID:32582862 PMID:32597037 PMID:32860008 PMID:33491183 PMID:36344503 More...
NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,413,099...80,471,697
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PYCR1
pyrroline-5-carboxylate reductase 1
ISO
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome
ClinVar
PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 PMID:21834030 PMID:23963297 PMID:24035636 PMID:25741868 PMID:28492532 PMID:30450527 PMID:32860008 More...
NCBI chr12:1,060,028...1,064,808
Ensembl chr12:1,060,570...1,064,805
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GPKOW
G-patch domain and KOW motifs
ISO
ClinVar Annotator: match by term: Holoprosencephaly with fetal akinesia/hypokinesia sequence
ClinVar
NCBI chr X:43,177,264...43,192,021
Ensembl chr X:43,177,272...43,191,830
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