Pregnancy Complications - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Pregnancy Complications	go back to main search page
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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Genes (707)

Pregnancy Complications

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythropoietin

associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid

NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343

G

fatty acid amide hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936474:27,419,211...27,441,061
Ensembl chrNW_004936474:27,419,078...27,441,039

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:17,882,663...17,888,708
Ensembl chrNW_004936475:17,882,575...17,887,748

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867

G

nuclear receptor coactivator 2

mRNA:decreased expression:uterus (rat)

NCBI chrNW_004936496:14,844,923...15,102,922
Ensembl chrNW_004936496:14,844,855...15,016,454

G

NFKB inhibitor alpha

susceptibility

associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human)

NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612

G

serpin family E member 1

DNA:polymorphism:promoter:rs1799768 (human)

NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123

Bowen-Conradi syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EMG1 N1-specific pseudouridine methyltransferase

ClinVar Annotator: match by term: Bowen-Conradi syndrome

PMID:19463982 PMID:25741868 PMID:28492532

NCBI chrNW_004936709:847,229...854,471
Ensembl chrNW_004936709:845,633...854,976

Cardiovascular Pregnancy Complications

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936735:209,369...234,582

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936549:7,015,595...7,016,246

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936552:7,204,298...7,212,632

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

central conducting lymphatic anomaly

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EPH receptor B4

ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7

PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More...

NCBI chrNW_004936543:794,837...811,637
Ensembl chrNW_004936543:794,725...811,637

G

MyoD family inhibitor domain containing

ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY

PMID:25741868 PMID:35235341

NCBI chrNW_004936589:3,838,064...3,925,029
Ensembl chrNW_004936589:3,838,064...3,925,029

G

solute carrier family 12 member 9

ClinVar Annotator: match by term: Lymphatic malformation 7

PMID:25741868 PMID:28492532

NCBI chrNW_004936543:828,029...837,998
Ensembl chrNW_004936543:827,952...838,062

chorioamnionitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end-product specific receptor

NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147

G

Fas cell surface death receptor

protein:increased expression:villous trophoblast

NCBI chrNW_004936735:209,369...234,582

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315

G

interleukin 6

associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
protein:increased expression: cervicovaginal fluid :
protein:increased expression:plasma

PMID:15547537 PMID:25011638 PMID:25687566

RGD:12791291 RGD:12792243 RGD:5128667

NCBI chrNW_004936549:7,015,595...7,016,246

G

lymphotoxin alpha

severity

associated with Premature Birth;DNA:SNP:promoter:250G>A (human)

NCBI chrNW_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022

G

matrix metallopeptidase 9

severity

protein:increased expression:respiratory system fluid/secretion

NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793

G

transforming growth factor beta 1

severity

protein:increased expression:amniotic fluid

NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272

G

tumor necrosis factor

no_association
severity

associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

triggering receptor expressed on myeloid cells 1

associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid:

NCBI chrNW_004936476:18,577,825...18,583,675
Ensembl chrNW_004936476:18,574,381...18,583,647

choriocarcinoma

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689

G

insulin like growth factor 2

disease_progression

protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR

NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167

G

insulin receptor

disease_progression

protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR

NCBI chrNW_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668

G

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829

G

TIMP metallopeptidase inhibitor 3

DNA, protein:hypermethylation, decreased expression:promoter, placenta

NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190

chromosome 17q11.2 deletion syndrome

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

ring finger protein 135

ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome

PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More...

NCBI chrNW_004936538:2,741,308...2,757,042
Ensembl chrNW_004936538:2,741,220...2,757,240

dehydrated hereditary stomatocytosis 1

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium calcium-activated channel subfamily N member 4

ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema

NCBI chrNW_004936706:940,585...952,484

G

piezo type mechanosensitive ion channel component 1 (Er blood group)

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

PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More...

NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233

Diabetic Embryopathy

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas associated via death domain

NCBI chrNW_004936599:633,501...639,412
Ensembl chrNW_004936599:633,330...639,456

eclampsia

term browser

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Object Name

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6

treatment

NCBI chrNW_004936549:7,015,595...7,016,246

Embryo Loss

term browser

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Object Name

Qualifiers

Evidence

Notes

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PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936646:379,849...385,648
Ensembl chrNW_004936646:379,842...385,877

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182

G

C-X-C motif chemokine ligand 12

associated with Diabetes Mellitus, Insulin-Dependent

NCBI chrNW_004936617:4,224,131...4,239,080
Ensembl chrNW_004936617:4,224,131...4,238,796

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837

G

glutathione peroxidase 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936588:506,101...508,469
Ensembl chrNW_004936588:506,147...508,101

G

G protein-coupled receptor kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936599:2,437,061...2,456,141
Ensembl chrNW_004936599:2,437,032...2,456,147

G

insulin like growth factor 2

DNA:methylation: :

NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167

G

interleukin 18

NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189

G

leucine carboxyl methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936501:9,354,607...9,397,675
Ensembl chrNW_004936501:9,354,565...9,397,686

G

LIF interleukin 6 family cytokine

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936904:410,043...413,256
Ensembl chrNW_004936904:410,043...413,257

G

mitogen-activated protein kinase kinase kinase 7

NCBI chrNW_004936510:1,772,971...1,836,075
Ensembl chrNW_004936510:1,772,971...1,837,765

G

NLR family pyrin domain containing 5

ClinVar Annotator: match by term: Preimplantation embryonic lethality

NCBI chrNW_004936562:1,069,745...1,092,383

G

poly(ADP-ribose) glycohydrolase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936728:428,028...538,413
Ensembl chrNW_004936728:428,028...541,530

G

spalt like transcription factor 1

NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413

G

spalt like transcription factor 4

NCBI chrNW_004936514:3,285,778...3,302,179
Ensembl chrNW_004936514:3,285,531...3,303,644

G

solute carrier family 31 member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936559:333,461...364,737
Ensembl chrNW_004936559:331,917...364,852

G

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

NCBI chrNW_004936489:2,371,953...2,421,882
Ensembl chrNW_004936489:2,372,216...2,424,515

G

TNF receptor superfamily member 1A

NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921

G

ubiquitin conjugating enzyme E2 N

CTD Direct Evidence: marker/mechanism

familial gestational hyperthyroidism

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 128

ClinVar Annotator: match by term: Familial gestational hyperthyroidism

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chrNW_004936488:9,246,498...9,419,164
Ensembl chrNW_004936488:9,019,397...9,395,068

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Familial gestational hyperthyroidism

PMID:7528344 PMID:8636266 PMID:8681963 PMID:8954020 PMID:8964822 More...

NCBI chrNW_004936488:9,428,053...9,560,856
Ensembl chrNW_004936488:9,427,962...9,560,685

fetal akinesia deformation sequence syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

actin alpha 1, skeletal muscle

ClinVar Annotator: match by term: Fetal akinesia deformation sequence

PMID:25741868 PMID:33060286

NCBI chrNW_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430

G

muscle associated receptor tyrosine kinase

ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1

PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 More...

NCBI chrNW_004936559:2,387,019...2,486,685
Ensembl chrNW_004936559:2,387,027...2,486,552

G

proteoglycan 4

ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936481:4,111,417...4,128,411

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1

PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 More...

NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181

G

ryanodine receptor 1

ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1

PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 More...

NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004936474:955,081...1,194,200
Ensembl chrNW_004936474:955,040...1,195,859

fetal akinesia deformation sequence syndrome 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 2, lysosomal

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:1,952,581...1,960,327
Ensembl chrNW_004936562:1,952,536...1,960,327

G

actin alpha 1, skeletal muscle

ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286

NCBI chrNW_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430

G

adducin 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532

NCBI chrNW_004936477:20,695,109...20,766,053
Ensembl chrNW_004936477:20,691,951...20,766,152

G

adenylosuccinate synthase 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123

NCBI chrNW_004936621:655,004...667,608
Ensembl chrNW_004936621:655,008...664,762

G

aldehyde dehydrogenase 5 family member A1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936671:843,577...865,798
Ensembl chrNW_004936671:843,577...865,881

G

ARF GTPase activating protein 2

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:1,996,000...2,005,850
Ensembl chrNW_004936562:1,996,000...2,006,554

G

N-acylsphingosine amidohydrolase 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123

NCBI chrNW_004936554:104,666...141,761
Ensembl chrNW_004936554:104,229...141,512

G

activating signal cointegrator 1 complex subunit 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123

NCBI chrNW_004936521:6,695,366...6,791,480
Ensembl chrNW_004936521:6,696,120...6,791,873

G

assembly factor for spindle microtubules

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524

G

apoptosis and caspase activation inhibitor

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936673:2,434,984...2,568,868
Ensembl chrNW_004936673:2,435,308...2,565,180

G

bridge-like lipid transfer protein family member 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936662:1,329,646...1,526,610
Ensembl chrNW_004936662:1,330,446...1,526,633

G

cholinergic receptor nicotinic delta subunit

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936525:4,560,293...4,568,431
Ensembl chrNW_004936525:4,561,507...4,568,409

G

contactin associated protein 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936490:17,412,837...17,430,123
Ensembl chrNW_004936490:17,412,878...17,429,041

G

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:2,005,835...2,199,527
Ensembl chrNW_004936562:2,005,626...2,199,691

G

damage specific DNA binding protein 2

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:1,960,406...1,974,809
Ensembl chrNW_004936562:1,960,406...1,974,867

G

DEAQ-box RNA dependent ATPase 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936556:731,169...738,870
Ensembl chrNW_004936556:730,716...738,562

G

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954

G

glutamyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004936501:8,190,466...8,209,320
Ensembl chrNW_004936501:8,188,071...8,209,386

G

exosome component 3

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More...

NCBI chrNW_004936524:5,580,855...5,586,170
Ensembl chrNW_004936524:5,581,090...5,586,128

G

fibulin 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936629:4,170,186...4,242,100
Ensembl chrNW_004936629:4,170,817...4,242,103

G

fibrillin 2

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435

G

GCN1 activator of EIF2AK4

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936668:718,961...786,101
Ensembl chrNW_004936668:724,031...785,533

G

GDNF family receptor alpha 4

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936485:15,135,245...15,139,639
Ensembl chrNW_004936485:15,135,245...15,139,000

G

gliomedin

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:28726266 PMID:31680123 PMID:32812332

NCBI chrNW_004936471:13,234,478...13,294,306
Ensembl chrNW_004936471:13,234,478...13,292,323

G

HGF activator

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532

NCBI chrNW_004936477:20,291,791...20,298,764
Ensembl chrNW_004936477:20,291,852...20,298,764

G

IQ motif and Sec7 domain ArfGEF 3

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936606:271,217...388,505
Ensembl chrNW_004936606:271,291...374,940

G

leucine rich repeat LGI family member 4

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936570:1,122,987...1,131,270
Ensembl chrNW_004936570:1,123,298...1,132,011

G

thioredoxin domain-containing protein 8

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

NCBI chrNW_004936559:2,753,167...2,765,110

G

1,4-alpha-glucan-branching enzyme

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004936505:2,077,206...2,242,079
Ensembl chrNW_004936505:1,974,264...2,241,427

G

huntingtin

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532

NCBI chrNW_004936477:20,443,101...20,577,167
Ensembl chrNW_004936477:20,443,113...20,577,071
Ensembl chrNW_004936477:20,443,113...20,577,071

G

LDL receptor related protein 4

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937

G

MAP kinase activating death domain

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:1,891,120...1,936,559
Ensembl chrNW_004936562:1,892,033...1,932,418

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532

NCBI chrNW_004936477:20,691,433...20,694,513

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532

NCBI chrNW_004936477:20,431,866...20,438,330
Ensembl chrNW_004936477:20,431,861...20,440,848

G

muscle associated receptor tyrosine kinase

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

PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More...

NCBI chrNW_004936559:2,387,019...2,486,685
Ensembl chrNW_004936559:2,387,027...2,486,552

G

myosin binding protein C3

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648

G

alpha-N-acetylgalactosaminidase

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936718:31,946...55,822
Ensembl chrNW_004936718:37,135...48,893

G

sodium leak channel, non-selective

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:27214504 PMID:31680123

NCBI chrNW_004936472:9,502,054...9,789,714
Ensembl chrNW_004936472:9,502,030...9,789,638

G

neurofibromin 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 More...

NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532

NCBI chrNW_004936477:20,668,817...20,689,931
Ensembl chrNW_004936477:20,668,688...20,691,694

G

nuclear receptor subfamily 1 group H member 3

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:1,937,665...1,946,680
Ensembl chrNW_004936562:1,937,667...1,946,669

G

protein kinase C and casein kinase substrate in neurons 3

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:1,988,839...1,995,597
Ensembl chrNW_004936562:1,989,662...1,995,580

G

piezo type mechanosensitive ion channel component 2

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More...

NCBI chrNW_004936626:802,415...1,141,260
Ensembl chrNW_004936626:802,490...1,140,082

G

proteoglycan 4

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:31680123

NCBI chrNW_004936481:4,111,417...4,128,411

G

prickle planar cell polarity protein 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936512:1,165,159...1,270,138
Ensembl chrNW_004936512:1,163,615...1,270,255

G

proteasome 26S subunit, ATPase 3

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:1,810,883...1,817,040
Ensembl chrNW_004936562:1,810,864...1,823,077

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-related disorder

PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More...

NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532

NCBI chrNW_004936477:20,300,528...20,388,212
Ensembl chrNW_004936477:20,300,521...20,388,221
Ensembl chrNW_004936477:20,300,521...20,388,221

G

receptor tyrosine kinase like orphan receptor 2

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004936796:630,307...675,157
Ensembl chrNW_004936796:630,756...674,279

G

ryanodine receptor 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 More...

NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289

G

ryanodine receptor 3

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066

G

sodium voltage-gated channel alpha subunit 4

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936541:4,541,061...4,570,212
Ensembl chrNW_004936541:4,543,102...4,569,862

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004936473:27,883,526...27,963,994
Ensembl chrNW_004936473:27,883,526...27,963,994

G

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688

G

SET binding protein 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More...

NCBI chrNW_004936517:1,616,169...1,798,002
Ensembl chrNW_004936517:1,616,169...1,970,398

G

SH3 domain binding protein 2

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532

NCBI chrNW_004936477:20,774,386...20,794,958
Ensembl chrNW_004936477:20,773,016...20,807,722

G

solute carrier family 39 member 13

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:1,811,479...1,825,857
Ensembl chrNW_004936562:1,816,049...1,825,892

G

sperm associated antigen 16

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936586:3,264,953...3,407,823

G

Spi-1 proto-oncogene

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:17686188 PMID:28492532

NCBI chrNW_004936562:1,852,759...1,870,647
Ensembl chrNW_004936562:1,852,740...1,870,472

G

sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

NCBI chrNW_004936559:2,556,207...2,726,670
Ensembl chrNW_004936559:2,556,207...2,726,635

G

thymopoietin

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936492:14,972,391...15,000,115
Ensembl chrNW_004936492:14,971,968...15,000,060

G

thioredoxin

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

NCBI chrNW_004936559:2,811,786...2,822,528
Ensembl chrNW_004936559:2,811,782...2,822,528

G

unc-50 inner nuclear membrane RNA binding protein

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936744:1,701,988...1,710,007
Ensembl chrNW_004936744:1,701,632...1,709,826

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004936474:955,081...1,194,200
Ensembl chrNW_004936474:955,040...1,195,859

G

zinc finger E-box binding homeobox 2

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1

PMID:25741868 PMID:31680123

NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267

fetal akinesia deformation sequence syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2

PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More...

NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181

fetal akinesia deformation sequence syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dedicator of cytokinesis 7

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3

NCBI chrNW_004936692:161,979...354,028
Ensembl chrNW_004936692:162,390...353,721

fetal akinesia deformation sequence syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 88

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4

PMID:25741868 PMID:30543681

NCBI chrNW_004936677:2,385,289...2,417,398
Ensembl chrNW_004936677:2,385,289...2,421,783

G

rabaptin, RAB GTPase binding effector protein 1

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4

NCBI chrNW_004936677:2,417,676...2,481,587
Ensembl chrNW_004936677:2,417,679...2,512,868

fetal alcohol spectrum disorder

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936614:2,664,594...2,976,174

G

apolipoprotein E

NCBI chrNW_004936706:1,512,438...1,516,805

G

complement C3

protein:increased activity:blood

NCBI chrNW_004936588:3,985,732...4,023,221

G

complement C5

protein:increased activity:blood

NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159

G

catalase

CTD Direct Evidence: therapeutic

NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422

G

corticotropin releasing hormone receptor 1

sexual_dimorphism

associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)

NCBI chrNW_004936541:2,288,847...2,333,129
Ensembl chrNW_004936541:2,288,841...2,331,689

G

iodothyronine deiodinase 3

treatment

NCBI chrNW_004936604:5,241,877...5,243,910

G

DNA methyltransferase 1

mRNA,protein:increased expression:Pituitary gland (rat)

NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416

G

DNA methyltransferase 3 beta

mRNA:increased expression:pituitary gland (rat)

NCBI chrNW_004936485:19,547,836...19,570,716

G

dopamine receptor D2

DNA:Hypermethylation:promoter
mRNA:decreased expression: pituitary gland (rat)

PMID:26509893 PMID:28710248

RGD:11344152 RGD:401960105

NCBI chrNW_004936612:1,094,686...1,154,149
Ensembl chrNW_004936612:1,094,680...1,154,798

G

euchromatic histone lysine methyltransferase 2

mRNA:increased expression:pituitary gland (rat)

NCBI chrNW_004936727:1,648,451...1,663,294
Ensembl chrNW_004936727:1,648,448...1,663,455

G

gamma-aminobutyric acid type A receptor subunit beta3

sexual_dimorphism
treatment

in male mice only; mRNA:increased expression:frontal cortex:

PMID:23763370 PMID:30312858

RGD:13432044 RGD:405866345

NCBI chrNW_004936471:39,791,633...40,193,049
Ensembl chrNW_004936471:39,791,613...40,187,923

G

gamma-aminobutyric acid type A receptor subunit gamma2

mRNA:increased expression:posterior hypothalamic region (rat)

NCBI chrNW_004936515:1,609,370...1,670,412
Ensembl chrNW_004936515:1,607,722...1,671,336

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

PMID:22037411 PMID:23763370

RGD:13210751 RGD:13432044

NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664

G

histone deacetylase 2

mRNA,protein:increased expression:pituitary gland (rat)

NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641

G

histone deacetylase 4

mRNA,protein:increased expression:pituitary gland (rat)

NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074

G

hydroxysteroid 11-beta dehydrogenase 2

protein:increased expression:placenta (rat)

NCBI chrNW_004936475:17,882,663...17,888,708
Ensembl chrNW_004936475:17,882,575...17,887,748

G

insulin like growth factor 1

mRNA:decreased expression:cerebellum (rat)

NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351

G

insulin like growth factor 1 receptor

protein:decreased activity:cerebellum (rat)

NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925

G

methionine adenosyltransferase 2A

mRNA:decreased expression:brain (rat)

NCBI chrNW_004936712:1,710,513...1,717,339
Ensembl chrNW_004936712:1,709,716...1,717,499

G

methyl-CpG binding protein 2

treatment

mRNA:increased expression:pituitary gland (rat)

PMID:23763370 PMID:26509893

RGD:11344152 RGD:13432044

NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839

G

5-methyltetrahydrofolate-homocysteine methyltransferase

mRNA:decreased expression:brain (rat)

NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148

G

nitric oxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414

G

nuclear receptor subfamily 3 group C member 2

sexual_dimorphism

associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)

NCBI chrNW_004936535:1,139,687...1,467,469
Ensembl chrNW_004936535:1,140,178...1,467,471

G

opioid receptor kappa 1

DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex

NCBI chrNW_004936496:280,593...305,900
Ensembl chrNW_004936496:280,558...305,904

G

opioid related nociceptin receptor 1

mRNA:decreased expression:ventral tegmental area

NCBI chrNW_004936514:11,264,392...11,273,584
Ensembl chrNW_004936514:11,258,335...11,273,592

G

prodynorphin

DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens

NCBI chrNW_004936485:16,559,371...16,571,461
Ensembl chrNW_004936485:16,559,217...16,571,678

G

period circadian regulator 2

treatment

NCBI chrNW_004936525:221,601...263,284
Ensembl chrNW_004936525:221,510...263,295

G

prepronociceptin

mRNA:increased expression:nucleus accumbens

NCBI chrNW_004936675:1,113,435...1,134,916
Ensembl chrNW_004936675:1,113,435...1,134,910

G

proopiomelanocortin

treatment

NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109

G

prolactin

mRNA, protein:increased expression:pituitary gland, blood plasma (rat)
mRNA,protein:increased expression:pituitary gland, blood plasma (rat)

PMID:26509893 PMID:28710248

RGD:11344152 RGD:401960105

NCBI chrNW_004936552:7,204,298...7,212,632

G

phosphatase and tensin homolog

Protein:increased expression, increased activity:cerebellum (rat)

NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323

G

Ras protein specific guanine nucleotide releasing factor 1

treatment

NCBI chrNW_004936471:37,173,595...37,278,356
Ensembl chrNW_004936471:37,171,297...37,278,529

G

ribosomal protein S6 kinase A1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936474:10,996,867...11,030,504
Ensembl chrNW_004936474:10,996,813...11,030,557

G

SET domain containing 7, histone lysine methyltransferase

mRNA:decreased expression:pituitary gland (rat)

NCBI chrNW_004936535:8,094,479...8,143,108
Ensembl chrNW_004936535:8,094,178...8,137,580

G

solute carrier family 25 member 12

treatment

NCBI chrNW_004936509:1,994,082...2,077,731
Ensembl chrNW_004936509:1,990,116...2,077,938

G

solute carrier family 6 member 4

mRNA:decreased expression:brain (rat)

NCBI chrNW_004936538:6,205,268...6,239,062
Ensembl chrNW_004936538:6,205,251...6,239,083

G

toll like receptor 4

ameliorates

NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095

G

ubiquitin protein ligase E3A

treatment

NCBI chrNW_004936471:41,187,665...41,290,345
Ensembl chrNW_004936471:41,187,612...41,283,517

fetal alcohol syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ras homolog family member A

protein:increased activation:neuron, cerebellum

NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681

Fetal Death

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha hemoglobin stabilizing protein

mRNA, protein:decreased expression:placenta (human)

NCBI chrNW_004936543:8,317,344...8,325,273

G

ATR serine/threonine kinase

NCBI chrNW_004936540:4,074,543...4,178,859
Ensembl chrNW_004936540:4,074,570...4,178,898

G

coagulation factor V

no_association

NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844

G

grainyhead like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936474:9,321,754...9,354,486
Ensembl chrNW_004936474:9,332,444...9,353,893

G

heat shock protein family D (Hsp60) member 1

NCBI chrNW_004936506:1,678,069...1,687,632

G

angiotensin-converting enzyme

DNA:deletion:intron:IVS16+1464-1751del (human)

NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177

G

lysophosphatidic acid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936559:2,187,791...2,331,587
Ensembl chrNW_004936559:2,259,420...2,332,806

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262

G

platelet derived growth factor receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587

G

retinol dehydrogenase 10

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936648:2,060,131...2,088,021
Ensembl chrNW_004936648:2,060,125...2,088,833

G

tissue factor pathway inhibitor

associated with Hemorrhage;

NCBI chrNW_004936506:10,103,120...10,172,800
Ensembl chrNW_004936506:10,103,139...10,171,863

G

TNF receptor superfamily member 1B

associated with Endotoxemia; human protein in rat model

NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177

Fetal Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of inhibitor of nuclear factor kappa B kinase complex

CTD Direct Evidence: marker/mechanism

PMID:10195895 PMID:10195896 PMID:10346820 PMID:20961246

NCBI chrNW_004936636:33,933...78,990
Ensembl chrNW_004936636:33,673...79,194

G

nitric oxide synthase 2

associated with Diabetes Mellitus, Experimental

NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051

G

protein kinase C beta

associated with Diabetes Mellitus, Experimental;protein:increased expression

NCBI chrNW_004936501:8,410,273...8,729,238
Ensembl chrNW_004936501:8,437,715...8,728,716

G

serine protease 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936501:13,487,863...13,491,837
Ensembl chrNW_004936501:13,485,310...13,491,905

fetal encasement syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of inhibitor of nuclear factor kappa B kinase complex

ClinVar Annotator: match by term: Cocoon syndrome

NCBI chrNW_004936636:33,933...78,990
Ensembl chrNW_004936636:33,673...79,194

Fetal Growth Retardation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

mRNA:increased expression:placenta

NCBI chrNW_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936735:266,918...283,858
Ensembl chrNW_004936735:266,754...284,377

G

adiponectin, C1Q and collagen domain containing

treatment

NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928

G

adiponectin receptor 1

treatment

NCBI chrNW_004936567:1,658,405...1,674,794
Ensembl chrNW_004936567:1,658,383...1,676,199

G

adiponectin receptor 2

treatment

NCBI chrNW_004936606:1,911,104...2,007,109
Ensembl chrNW_004936606:1,948,743...2,007,163

G

angiotensinogen

CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:kidney,urine:

PMID:17537837 PMID:20530295 PMID:26270574

RGD:11538508 RGD:13432363

NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261

G

angiotensin II receptor type 1

NCBI chrNW_004936519:6,831,096...6,873,977
Ensembl chrNW_004936519:6,831,096...6,873,985

G

angiotensin II receptor type 2

NCBI chrNW_004936479:13,252,678...13,255,570
Ensembl chrNW_004936479:13,252,678...13,255,570

G

anaphase promoting complex subunit 2

protein:increased expression:serum (human)

NCBI chrNW_004936669:797,475...808,952
Ensembl chrNW_004936669:797,318...811,721

G

apolipoprotein E

mRNA:increased expression:adrenal gland (rat)

NCBI chrNW_004936706:1,512,438...1,516,805

G

apolipoprotein H

NCBI chrNW_004936541:6,683,483...6,695,094
Ensembl chrNW_004936541:6,683,534...6,695,066

G

ATP synthase F1 subunit alpha

protein:increased expression:retroperitoneal fat pad (rat)

NCBI chrNW_004936517:743,036...752,836
Ensembl chrNW_004936517:742,791...753,336

G

ATP synthase F1 subunit beta

protein:decreased expression:liver (rat)

NCBI chrNW_004936646:951,236...958,907
Ensembl chrNW_004936646:951,009...959,516

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820

G

BCL2 apoptosis regulator

treatment

NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921

G

bone morphogenetic protein 4

NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468

G

calcium voltage-gated channel subunit alpha1 C

protein:decreased expression:pancreas (rat)

NCBI chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758

G

calcium voltage-gated channel subunit alpha1 D

protein:decreased expression:pancreas (rat)

NCBI chrNW_004936473:4,164,633...4,479,866
Ensembl chrNW_004936473:4,037,533...4,478,073

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918

G

caspase 3

treatment

NCBI chrNW_004936554:4,571,072...4,593,765

G

collagen type II alpha 1 chain

mRNA:decreased expression:distal epiphyseal plate of femur (rat)

NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853

G

catechol-O-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747

G

carbamoyl-phosphate synthase 1

NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312

G

cystathionine gamma-lyase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936591:1,619,446...1,643,667
Ensembl chrNW_004936591:1,619,446...1,643,665

G

DEAD-box helicase 23

ClinVar Annotator: match by term: Intrauterine growth retardation

PMID:25741868 PMID:34050707

NCBI chrNW_004936512:6,666,972...6,682,596
Ensembl chrNW_004936512:6,666,814...6,682,728

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936604:4,504,519...4,511,897
Ensembl chrNW_004936604:4,504,503...4,511,910

G

DNA methyltransferase 1

mRNA,protein:decreased expression:hippocampus:
mRNA:increased expression:adrenal gland:
mRNA:decreased expression:kidney:

PMID:12869365 PMID:16380407 PMID:24717552

RGD:9588242 RGD:9588619 RGD:9590296

NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416

G

DNA methyltransferase 3 beta

mRNA:increased expression:adrenal gland:

NCBI chrNW_004936485:19,547,836...19,570,716

G

dual specificity phosphatase 1

NCBI chrNW_004936609:2,688,170...2,691,057
Ensembl chrNW_004936609:2,688,181...2,690,408

G

dual specificity phosphatase 5

NCBI chrNW_004936486:1,351,077...1,361,002
Ensembl chrNW_004936486:1,347,885...1,359,903

G

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Intrauterine growth restriction

PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More...

NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825

G

ETS transcription factor ELK1

mRNA:decreased expression:placenta

NCBI chrNW_004936502:13,402,726...13,418,214
Ensembl chrNW_004936502:13,402,728...13,418,214

G

estrogen related receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936628:1,635,161...2,058,198
Ensembl chrNW_004936628:1,830,881...2,058,269

G

Fas cell surface death receptor

susceptibility

associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human)
associated with protein:increased expression:serum:

PMID:15695771 PMID:16169656

RGD:12903973 RGD:12904025

NCBI chrNW_004936735:209,369...234,582

G

Fas ligand

severity

protein:increased expression:amniotic fluid:
associated with protein:increased expression:serum:

PMID:16169656 PMID:23582102

RGD:12903972 RGD:12904025

NCBI chrNW_004936481:14,789,547...14,795,780

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

NCBI chrNW_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:decreased expression:placenta
mRNA:decreased expression:chorionic villus

NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588

G

glucose-6-phosphatase catalytic subunit 1

mRNA, protein:decreased expression:liver (rat)
mRNA:increased expression:liver

PMID:15448092 PMID:23744881

RGD:14695550 RGD:2315963

NCBI chrNW_004936490:17,605,865...17,614,754
Ensembl chrNW_004936490:17,605,865...17,615,145

G

glial cell derived neurotrophic factor

mRNA, protein:decreased expression:kidney

NCBI chrNW_004936518:4,291,391...4,310,752
Ensembl chrNW_004936518:4,288,154...4,310,753

G

ghrelin and obestatin prepropeptide

disease_progression

NCBI chrNW_004936602:3,037,862...3,044,863
Ensembl chrNW_004936602:3,038,549...3,042,506

G

growth hormone secretagogue receptor

disease_progression

NCBI chrNW_004936593:268,736...273,623
Ensembl chrNW_004936593:268,350...277,229

G

glutamate dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936601:5,415,857...5,435,964

G

glutamate ionotropic receptor AMPA type subunit 1

protein:decreased expression:cerebral cortical neuron (rat)

NCBI chrNW_004936515:8,937,391...9,236,438
Ensembl chrNW_004936515:8,940,009...9,083,151

G

glutamate ionotropic receptor NMDA type subunit 2A

protein:decreased expression:cerebral cortical neuron (rat)

NCBI chrNW_004936530:8,286,101...8,612,183
Ensembl chrNW_004936530:8,287,574...8,608,343

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

mRNA:decreased expression

NCBI chrNW_004936493:6,182,786...6,224,601
Ensembl chrNW_004936493:6,182,261...6,224,693

G

histone deacetylase 1

protein:decreased expression, decreased activity:hippocampus:
mRNA:increased expression:adrenal gland:

PMID:16380407 PMID:18464933 PMID:24717552

RGD:2311214 RGD:9588242 RGD:9590296

NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860

G

histone deacetylase 2

mRNA:increased expression:adrenal gland:

NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641

G

hepatocyte nuclear factor 4 alpha

DNA:altered methylation:prompter:

NCBI chrNW_004936530:2,401,053...2,425,989
Ensembl chrNW_004936530:2,401,043...2,454,466

G

hydroxysteroid 11-beta dehydrogenase 2

associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney

NCBI chrNW_004936475:17,882,663...17,888,708
Ensembl chrNW_004936475:17,882,575...17,887,748

G

insulin like growth factor 1

treatment
onset

human protein in a rat model
protein:decreased expression:placenta labyrinth (rat)
mRNA:decreased expression:liver

PMID:9284279 PMID:15506645 PMID:19088829 PMID:24239160

RGD:12904720 RGD:12910460 RGD:1600258 RGD:2306715

NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351

G

insulin like growth factor 1 receptor

onset

DNA:point mutation:exon:p.R108Q, p.K115N (human)
protein:increased expression:liver, lung (rat)
protein:decreased expression:placenta labyrinth (rat)
CTD Direct Evidence: marker/mechanism

PMID:12536576 PMID:14657428 PMID:24239160

RGD:12904720 RGD:12904724 RGD:1624299

NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925

G

insulin like growth factor 2

CTD Direct Evidence: marker/mechanism
mRNA:altered expresssion:liver,placenta:

PMID:1408464 PMID:12087403 PMID:16040806

NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167

G

insulin like growth factor 2 receptor

mRNA:increased expresssion:fetus:

NCBI chrNW_004936489:11,447,043...11,523,695
Ensembl chrNW_004936489:11,447,038...11,524,174

G

insulin like growth factor binding protein 3

treatment

protein:decreased expression:serum:
protein:increased expression:brain
protein:increased expression:Amniotic fluid:
DNA:hypermethylation:promoter:
mRNA:increased expression:placenta:

PMID:15506645 PMID:16923367 PMID:19217707 PMID:19591553 PMID:21823995 More...

RGD:10402581 RGD:12743583 RGD:12743585 RGD:12743590 RGD:12743599 RGD:1600258

NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306

G

interleukin 1 alpha

mRNA:increased expression:placenta

NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315

G

insulin receptor substrate 1

mRNA,protein:decreased expression:growth plate:

NCBI chrNW_004936525:9,064,442...9,125,972
Ensembl chrNW_004936525:9,064,466...9,122,635

G

insulin receptor substrate 2

NCBI chrNW_004936472:2,772,187...2,796,398

G

leptin

NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334

G

angiotensin-converting enzyme

mRNA:increased expression:kidney (rat)

NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177

G

cytochrome P450 1A1

mRNA:increased expression:placenta

PMID:16225763 PMID:17706398 PMID:18442069

RGD:11576311 RGD:11576317 RGD:2306659

NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332

G

delta-1-pyrroline-5-carboxylate synthase

DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)

NCBI chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073

G

cholesterol side-chain cleavage enzyme, mitochondrial

mRNA:increased expression:adrenal gland, maternal (rat)

NCBI chrNW_004936471:33,367,810...33,380,764
Ensembl chrNW_004936471:33,367,810...33,380,764

G

MDM2 proto-oncogene

mRNA:decreased expression:cerebrum (rat)

NCBI chrNW_004936545:6,709,903...6,732,334

G

methyl-CpG binding protein 2

mRNA,protein:decreased expression:hippocampus:

NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-1306C>T (human)

PMID:17367869 PMID:28157488

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

DNA:SNP: :401A>G(human)
DNA:SNP:cds:1958G>A(human)

PMID:18771981 PMID:22378735 PMID:25118499

RGD:12910955 RGD:12910958 RGD:12914148

NCBI chrNW_004936495:8,100,977...8,170,244
Ensembl chrNW_004936495:8,100,912...8,171,800

G

mucin 1, cell surface associated

NCBI chrNW_004936580:4,691,870...4,694,092

G

mucin 2, oligomeric mucus/gel-forming

NCBI chrNW_004936816:60,499...91,628
Ensembl chrNW_004936816:60,499...91,628

G

mucin 4, cell surface associated

NCBI chrNW_004936784:515,608...539,915

G

NFE2 like bZIP transcription factor 2

treatment

protein:decreased expression:placenta

PMID:23910525 PMID:25171874

RGD:10412716 RGD:26884462

NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262

G

nitric oxide synthase 1

associated with hyperinsulinemia; protein:decreased expression:placenta

NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414

G

nitric oxide synthase 2

associated with hyperinsulinemia; protein:increased expression:placenta

NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051

G

nitric oxide synthase 3

RNA, protein:increased expression:thoracic aorta:
associated with hyperinsulinemia; protein:decreased expression:placenta
CTD Direct Evidence: marker/mechanism

PMID:19709742 PMID:22421449 PMID:23667712 PMID:29741931

RGD:13792602 RGD:5132592

NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534

G

nuclear receptor subfamily 3 group C member 1

associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney

PMID:17272666 PMID:20388836

RGD:2308941 RGD:4892120

NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856

G

origin recognition complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936522:8,580,661...8,610,750
Ensembl chrNW_004936522:8,586,591...8,610,747

G

ornithine transcarbamylase

mRNA:altered expression:liver (rat)

NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891

G

phosphoenolpyruvate carboxykinase 1

mRNA:decreased expression:liver:

NCBI chrNW_004936530:361,872...367,005
Ensembl chrNW_004936530:361,872...367,005

G

platelet derived growth factor subunit A

mRNA:increased expression:placenta

NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613

G

platelet derived growth factor subunit B

mRNA:increased expression:placenta

NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573

G

pancreatic and duodenal homeobox 1

mRNA:decreased expression:pancreas (rat)
mRNA:decreased expression:pancreatic islet

PMID:12606515 PMID:18464933

RGD:2311214 RGD:2311220

NCBI chrNW_004936472:23,102,534...23,107,127
Ensembl chrNW_004936472:23,102,534...23,107,127

G

proopiomelanocortin

mRNA, protein:decreased expression:hypothalamus

NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109

G

peroxisome proliferator activated receptor gamma

mRNA:decreased expression:lung (rat)

NCBI chrNW_004936602:1,230,907...1,368,588
Ensembl chrNW_004936602:1,230,907...1,304,743

G

PPARG coactivator 1 alpha

mRNA, protein:increased expression:liver (rat)

NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226

G

peroxiredoxin 6

protein:decreased expression:placenta

NCBI chrNW_004936481:14,223,422...14,233,634
Ensembl chrNW_004936481:14,222,696...14,233,641

G

prostaglandin E receptor 3

mRNA, protein:increased expression:placenta (rat)

NCBI chrNW_004936591:1,174,364...1,250,233
Ensembl chrNW_004936591:1,174,069...1,249,410

G

prostaglandin-endoperoxide synthase 2

associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney

NCBI chrNW_004936481:3,821,564...3,828,086

G

protein tyrosine phosphatase non-receptor type 11

treatment

with postnatal growth restriction

NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448

G

retinol binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936540:1,600,673...1,626,573
Ensembl chrNW_004936540:1,600,398...1,626,652

G

renin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497

G

sterile alpha motif domain containing 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936803:765,839...782,176

G

serpin family E member 1

associated with Pre-Eclampsia;protein:increased expression:plasma,placenta:

NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123

G

SIN3 transcription regulator family member A

NCBI chrNW_004936471:34,206,084...34,260,538
Ensembl chrNW_004936471:34,204,524...34,260,564

G

solute carrier family 2 member 1

protein:increased expression:placenta
mRNA, protein:increased expression:liver

PMID:9886959 PMID:11738800

RGD:12879480 RGD:730192

NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713

G

solute carrier family 2 member 2

mRNA, protein:decreased expression:liver

NCBI chrNW_004936593:1,572,661...1,605,071
Ensembl chrNW_004936593:1,572,672...1,604,947

G

solute carrier family 38 member 2

mRNA, protein:decreased expression:placenta

NCBI chrNW_004936512:4,543,845...4,557,118
Ensembl chrNW_004936512:4,543,820...4,557,142

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867

G

sterol regulatory element binding transcription factor 1

NCBI chrNW_004936741:1,408,669...1,419,717
Ensembl chrNW_004936741:1,406,521...1,419,776

G

steroidogenic acute regulatory protein

mRNA:increased expression:adrenal gland, maternal (rat)

NCBI chrNW_004936710:1,523,289...1,530,181
Ensembl chrNW_004936710:1,523,355...1,529,672

G

unc-13 homolog A

NCBI chrNW_004936596:3,311,358...3,370,833
Ensembl chrNW_004936596:3,312,788...3,368,916

G

vitamin D receptor

mRNA,protein:decreased expression:placenta:

NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Intrauterine growth restriction

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238

Fetal Hypoxia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

corticotropin releasing hormone

protein:increased expression:paraventricular nucleus of hypothalamus (rat)

NCBI chrNW_004936496:7,759,656...7,761,555
Ensembl chrNW_004936496:7,760,532...7,761,122

G

corticotropin releasing hormone receptor 1

protein:increased expression:paraventricular nucleus of hypothalamus (rat)

NCBI chrNW_004936541:2,288,847...2,333,129
Ensembl chrNW_004936541:2,288,841...2,331,689

G

corticotropin releasing hormone receptor 2

protein:decreased expression:paraventricular nucleus of hypothalamus (rat)

NCBI chrNW_004936478:6,901,098...6,947,719
Ensembl chrNW_004936478:6,899,017...6,947,790

G

early growth response 1

NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749

G

matrix metallopeptidase 1

protein:altered expression:heart (rat)

NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857

G

matrix metallopeptidase 13

protein:increased expression:heart (rat)

NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384

G

nitric oxide synthase 1

NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414

Fetal Inflammatory Response Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6

associated with Premature Birth;

NCBI chrNW_004936549:7,015,595...7,016,246

Fetal Macrosomia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepatocyte nuclear factor 4 alpha

DNA:mutations: :

PMID:17407387 PMID:19435144

RGD:12904698 RGD:12904767

NCBI chrNW_004936530:2,401,053...2,425,989
Ensembl chrNW_004936530:2,401,043...2,454,466

G

insulin like growth factor 1

protein:increased expression:serum:

NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351

G

insulin like growth factor binding protein 3

protein:increased expression:serum:

NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306

G

lipase C, hepatic type

associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)

NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686

Fetal Nutrition Disorders

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)

NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444

G

collagen type I alpha 2 chain

associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)

NCBI chrNW_004936585:5,650,322...5,686,393
Ensembl chrNW_004936585:5,651,180...5,685,923

G

monoamine oxidase A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936502:9,816,443...9,888,002
Ensembl chrNW_004936502:9,815,319...9,888,026

G

NPHS1 adhesion molecule, nephrin

associated with maternal low protein diet; protein:decreased expression:kidney (rat)

NCBI chrNW_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874

G

NPHS2 stomatin family member, podocin

associated with maternal low protein diet; protein:decreased expression:kidney (rat)

NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534

G

zinc finger E-box binding homeobox 2

associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)

NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267

Fetal Resorption

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein H

NCBI chrNW_004936541:6,683,483...6,695,094
Ensembl chrNW_004936541:6,683,534...6,695,066

G

prolactin

CTD Direct Evidence: therapeutic

NCBI chrNW_004936552:7,204,298...7,212,632

Galactorrhea

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936552:7,204,298...7,212,632

gestational diabetes

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

treatment

protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism

PMID:15126557 PMID:19626510 PMID:23608331

RGD:2313236 RGD:8695950

NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928

G

alpha 2-HS glycoprotein

protein:increased expression:serum

NCBI chrNW_004936578:3,332,934...3,339,903
Ensembl chrNW_004936578:3,332,934...3,339,903

G

angiopoietin like 6

protein:increased expression:blood serum,umbilical artery (human)

NCBI chrNW_004936659:491,330...499,409
Ensembl chrNW_004936659:487,983...499,448

G

apolipoprotein D

NCBI chrNW_004936833:260,798...277,060
Ensembl chrNW_004936833:259,660...277,246

G

androgen receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932

G

ATPase plasma membrane Ca2+ transporting 1

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936507:6,525,302...6,631,003
Ensembl chrNW_004936507:6,523,199...6,630,606

G

ATPase plasma membrane Ca2+ transporting 2

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936602:2,744,757...3,011,051
Ensembl chrNW_004936602:2,744,759...3,007,940

G

ATPase plasma membrane Ca2+ transporting 3

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524

G

ATPase plasma membrane Ca2+ transporting 4

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936567:944,825...1,039,920
Ensembl chrNW_004936567:950,797...993,245

G

BCL2 interacting protein 3 like

NCBI chrNW_004936757:499,485...523,494
Ensembl chrNW_004936757:499,147...523,541

G

calbindin 1

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936544:3,858,344...3,881,985
Ensembl chrNW_004936544:3,858,344...3,882,106

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807

G

CDK5 regulatory subunit associated protein 1 like 1

DNA:snp: :rs7756992,rs7754840(human)

NCBI chrNW_004936552:5,903,042...6,347,498
Ensembl chrNW_004936552:5,833,409...6,347,017

G

chromosome unknown C12orf43 homolog

ClinVar Annotator: match by term: Gestational diabetes

PMID:9562352 PMID:25741868 PMID:35299962

NCBI chrNW_004936668:51,572...61,873
Ensembl chrNW_004936668:51,531...61,403

G

decorin

NCBI chrNW_004936507:7,887,259...7,923,055
Ensembl chrNW_004936507:7,884,654...7,922,961

G

dynein axonemal heavy chain 8

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936476:20,592,440...20,888,692
Ensembl chrNW_004936476:20,592,440...20,888,779

G

forkhead box M1

NCBI chrNW_004936606:3,185,289...3,198,427
Ensembl chrNW_004936606:3,185,982...3,198,378

G

glucose-6-phosphatase catalytic subunit 1

protein:increased activity:liver

NCBI chrNW_004936490:17,605,865...17,614,754
Ensembl chrNW_004936490:17,605,865...17,615,145

G

glutamate decarboxylase 2

NCBI chrNW_004936484:1,737,806...1,810,378
Ensembl chrNW_004936484:1,737,520...1,810,398

G

glucokinase

ClinVar Annotator: match by term: Gestational diabetes

PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 PMID:10525657 More...

NCBI chrNW_004936478:19,104,477...19,118,915
Ensembl chrNW_004936478:19,105,361...19,158,733

G

gamma-glutamyltransferase 1

protein:increased activity:blood

NCBI chrNW_004936619:762,278...791,610

G

glutathione peroxidase 1

NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987

G

HNF1 homeobox A

ClinVar Annotator: match by term: Gestational diabetes

PMID:9562352 PMID:25741868 PMID:35299962

NCBI chrNW_004936668:62,103...81,549
Ensembl chrNW_004936668:67,535...81,505

G

intercellular adhesion molecule 1

protein:increased expression:decidua, endothelial cell
protein:decreased expression:placenta

PMID:17990298 PMID:19343356

RGD:2313469 RGD:2313476

NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174

G

insulin like growth factor 1 receptor

NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925

G

interleukin 10

protein:decreased expression:serum

NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

interleukin 6

protein:increased expression:extracellular space (human)

NCBI chrNW_004936549:7,015,595...7,016,246

G

inhibin subunit beta A

protein:increased expression:serum
protein:decreased expression:serum

PMID:7852520 PMID:14663836

RGD:2313385 RGD:2313391

NCBI chrNW_004936478:16,878,725...16,884,065

G

insulin

protein:increased expression:serum

NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357

G

insulin receptor

mRNA, protein:increased expression:placenta (human)

PMID:19179458 PMID:22241286

RGD:10046048 RGD:2307336

NCBI chrNW_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668

G

inositol 1,4,5-trisphosphate receptor type 1

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936577:3,896,455...4,198,396
Ensembl chrNW_004936577:3,896,390...4,198,411

G

inositol 1,4,5-trisphosphate receptor type 2

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936548:646,019...1,120,426
Ensembl chrNW_004936548:645,925...1,121,888

G

inositol 1,4,5-trisphosphate receptor type 3

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936476:25,254,937...25,318,316
Ensembl chrNW_004936476:25,254,932...25,318,491

G

leptin

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum

PMID:19269197 PMID:20421132

NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334

G

leptin receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444

G

aromatase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910

G

1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial

mRNA:increased expression:placenta (human)

NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185

G

somatotropin

protein:increased expression:

NCBI chrNW_004936541:4,524,397...4,528,234

G

vitamin D 25-hydroxylase

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936528:3,881,630...3,897,613
Ensembl chrNW_004936528:3,881,087...3,900,302

G

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

mRNA:increased expression:placenta (human)

NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104

G

menin 1

NCBI chrNW_004936599:4,504,489...4,510,085
Ensembl chrNW_004936599:4,504,397...4,510,555

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179

G

8-oxoguanine DNA glycosylase

mRNA:increased expression:placenta (human)

NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831

G

plasminogen activator, tissue type

NCBI chrNW_004936785:476,200...503,371
Ensembl chrNW_004936785:476,078...503,321

G

retinol binding protein 4

protein:increased expression:blood serum (human)

NCBI chrNW_004936601:1,401,215...1,410,195
Ensembl chrNW_004936601:1,402,691...1,410,208

G

resistin

protein:increased expression:serum

NCBI chrNW_004936588:4,705,295...4,706,653
Ensembl chrNW_004936588:4,705,119...4,706,656

G

ryanodine receptor 1

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289

G

ryanodine receptor 2

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441

G

ryanodine receptor 3

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066

G

S100 calcium binding protein G

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936470:5,931,158...5,934,986
Ensembl chrNW_004936470:5,930,140...5,935,000

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936888:63,131...78,536
Ensembl chrNW_004936888:63,546...77,950

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:23956348 PMID:30738174 PMID:34175429

NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781

G

serine and arginine repetitive matrix 1

protein:increased glycation:placenta (human)

NCBI chrNW_004936474:9,573,015...9,602,229
Ensembl chrNW_004936474:9,572,974...9,602,229

G

transcription factor 7 like 2

susceptibility

DNA:SNP (human)

NCBI chrNW_004936486:3,473,877...3,660,565
Ensembl chrNW_004936486:3,473,843...3,660,576

G

transient receptor potential cation channel subfamily V member 5

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936527:375,922...399,446
Ensembl chrNW_004936527:375,925...399,446

G

transient receptor potential cation channel subfamily V member 6

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936527:345,237...359,877
Ensembl chrNW_004936527:345,626...359,942

G

urotensin 2

susceptibility

DNA:polymorphism

NCBI chrNW_004936623:2,339,259...2,345,717
Ensembl chrNW_004936623:2,340,778...2,345,700

G

vitamin D receptor

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936837:827,568...838,933

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial chaperone BCS1

ClinVar Annotator: match by term: GRACILE syndrome

PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More...

NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708

Greenberg dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin B receptor

ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia

PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More...

NCBI chrNW_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785

Habitual Abortions

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A5

susceptibility

ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3

NCBI chrNW_004936662:926,302...959,964
Ensembl chrNW_004936662:925,940...939,451

G

apolipoprotein E

NCBI chrNW_004936706:1,512,438...1,516,805

G

acid sensing ion channel subunit family member 5

ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3

NCBI chrNW_004936576:2,483,715...2,510,037
Ensembl chrNW_004936576:2,483,324...2,507,473

G

chromobox 3

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004936478:2,981,218...2,989,329
Ensembl chrNW_004936478:2,981,228...2,989,324

G

coiled-coil domain containing 68

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004936497:8,990,841...9,035,498
Ensembl chrNW_004936497:9,005,157...9,034,486

G

cyclin B3

ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1

NCBI chrNW_004936721:1,729,979...1,782,399

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936646:379,849...385,648
Ensembl chrNW_004936646:379,842...385,877

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182

G

centromere protein H

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004936480:379,172...396,167
Ensembl chrNW_004936480:379,183...396,167

G

cAMP responsive element binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936478:5,184,157...5,319,176
Ensembl chrNW_004936478:4,924,489...5,319,844

G

coagulation factor II, thrombin

ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2

PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More...

NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650

G

coagulation factor V

susceptibility

ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1

PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More...

NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Recurrent spontaneous abortion

PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675

NCBI chrNW_004936794:707,122...994,206
Ensembl chrNW_004936794:707,119...994,778

G

methylenetetrahydrofolate reductase

no_association

DNA:SNPs: :677C>T, 1298A>C (human)
DNA:SNP: :1298A>C (human)

PMID:19906129 PMID:22047507 PMID:22882325

RGD:10449404 RGD:10449411 RGD:10449415

NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193

G

PIF1 5'-to-3' DNA helicase

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004936471:25,165,850...25,173,503
Ensembl chrNW_004936471:25,166,325...25,173,535

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3

NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863

G

polo like kinase 1

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004936501:8,321,415...8,332,414
Ensembl chrNW_004936501:8,321,305...8,332,424

G

REX4 homolog, 3'-5' exonuclease

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004936669:3,479,778...3,504,938
Ensembl chrNW_004936669:3,481,294...3,491,572

G

synaptonemal complex protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936492:12,316,868...12,326,778
Ensembl chrNW_004936492:12,316,869...12,330,251

G

thrombomodulin

susceptibility

DNA:SNP: :1418C>T (human)

NCBI chrNW_004936620:2,563,900...2,568,117

HELLP syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

protein:decreased activity:plasma (human)

NCBI chrNW_004936669:3,449,259...3,478,471
Ensembl chrNW_004936669:3,456,494...3,478,512

G

alpha hemoglobin stabilizing protein

mRNA:decreased expression:placenta (human)

NCBI chrNW_004936543:8,317,344...8,325,273

G

CD40 ligand

protein:increased expression:blood platelet (human)

NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403

G

erb-b2 receptor tyrosine kinase 2

NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956

G

Fas cell surface death receptor

susceptibility

DNA:SNP:promoter:-670A>G(rs1800682)(human)
protein,mRNA:altered expression:placenta, liver:

PMID:28501275 PMID:30066360

RGD:14700669 RGD:14700673

NCBI chrNW_004936735:209,369...234,582

G

Fas ligand

susceptibility

DNA:SNP:intron:124A>G(rs5030772)(human)
protein:altered expression:blood, placenta, liver:

PMID:28501275 PMID:30066360

RGD:14700669 RGD:14700673

NCBI chrNW_004936481:14,789,547...14,795,780

hemolytic disease of the fetus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythroblast membrane associated protein (Scianna blood group)

ClinVar Annotator: match by term: Radin blood group

NCBI chrNW_004936474:24,149,628...24,161,492
Ensembl chrNW_004936474:24,149,583...24,161,463

G

Fc fragment of IgG receptor IIa

DNA:polymorphism: :

NCBI chrNW_004937131:15,542...22,099

G

Kell metallo-endopeptidase (Kell blood group)

ClinVar Annotator: match by term: KELL K/k BLOOD GROUP POLYMORPHISM

PMID:7849312 PMID:8652402 PMID:25741868

NCBI chrNW_004936527:406,061...431,142
Ensembl chrNW_004936527:406,132...427,186

G

solute carrier family 14 member 1 (Kidd blood group)

ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM

NCBI chrNW_004936517:1,015,069...1,039,474
Ensembl chrNW_004936517:1,015,036...1,039,529

G

solute carrier family 29 member 1 (Augustine blood group)

ClinVar Annotator: match by term: Fetal Erythroblastosis

NCBI chrNW_004936476:15,849,054...15,862,486
Ensembl chrNW_004936476:15,846,606...15,862,548

Hoyeraal Hreidarsson Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:7607282 PMID:10583221 PMID:12437656 PMID:16332973 PMID:19734544 More...

NCBI chrNW_004936927:134,770...144,057

G

protection of telomeres 1

ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia

PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 PMID:36113475

NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201

G

regulator of telomere elongation helicase 1

DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human)

NCBI chrNW_004936514:10,920,979...10,954,483
Ensembl chrNW_004936514:10,922,322...10,954,402

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia

PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115

NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:25741868 PMID:28492532

NCBI chrNW_004936722:320,171...323,703
Ensembl chrNW_004936722:320,917...324,492

Hydatidiform Mole

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein hormones, alpha polypeptide

protein:increased expression:serum

NCBI chrNW_004936510:4,679,349...4,696,511
Ensembl chrNW_004936510:4,679,321...4,696,529

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

NCBI chrNW_004936541:1,216,584...1,259,355
Ensembl chrNW_004936541:1,217,138...1,257,935

G

mutL homolog 1

DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell

NCBI chrNW_004936473:26,556,636...26,600,830
Ensembl chrNW_004936473:26,556,611...26,603,736

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

mutS homolog 2

DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell

NCBI chrNW_004936508:4,943,987...5,013,356
Ensembl chrNW_004936508:4,944,007...5,013,356

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829

Hydatidiform Mole, Invasive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 2

protein:decreased expression:mononuclear cytotrophoblast cell

NCBI chrNW_004936508:4,943,987...5,013,356
Ensembl chrNW_004936508:4,944,007...5,013,356

Hydatidiform Mole, Recurrent, 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

meiotic double-stranded break formation protein 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3

PMID:25741868 PMID:30388401

NCBI chrNW_004936492:196,829...277,052
Ensembl chrNW_004936492:197,076...276,726

Hydatidiform Mole, Recurrent, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TOP6B like initiator of meiotic double strand breaks

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4

PMID:25741868 PMID:30388401

NCBI chrNW_004936599:2,798,185...2,875,995
Ensembl chrNW_004936599:2,798,340...2,876,370

Hydrops Fetalis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 1, skeletal muscle

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430

G

ankyrin repeat and sterile alpha motif domain containing 3

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936530:4,698,234...4,723,131
Ensembl chrNW_004936530:4,695,401...4,722,924

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936474:11,148,857...11,197,312

G

collagen and calcium binding EGF domains 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936497:5,290,068...5,321,656
Ensembl chrNW_004936497:5,290,077...5,321,876

G

cholinergic receptor nicotinic alpha 1 subunit

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936509:4,452,382...4,470,658
Ensembl chrNW_004936509:4,452,616...4,470,658

G

cathepsin A

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936514:7,131,263...7,136,775
Ensembl chrNW_004936514:7,130,848...7,136,536

G

chromosome unknown C1orf105 homolog

ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:25741868 PMID:26036949

NCBI chrNW_004936481:14,936,108...14,962,504

G

24-dehydrocholesterol reductase

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936522:6,423,561...6,447,363
Ensembl chrNW_004936522:6,423,561...6,444,814

G

dynein axonemal heavy chain 14

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936526:1,922,088...2,252,731
Ensembl chrNW_004936526:1,942,923...2,252,731

G

dynein axonemal heavy chain 9

ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564

NCBI chrNW_004936595:4,338,831...4,671,178
Ensembl chrNW_004936595:4,338,831...4,670,498

G

EH domain binding protein 1 like 1

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936599:3,867,185...3,882,712
Ensembl chrNW_004936599:3,867,005...3,882,732

G

FAT atypical cadherin 4

ClinVar Annotator: match by term: Hydrops fetalis

PMID:25741868 PMID:28492532

NCBI chrNW_004936662:3,537,917...3,704,012
Ensembl chrNW_004936662:3,537,925...3,690,877

G

flap structure-specific endonuclease 1

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936581:1,328,685...1,332,713
Ensembl chrNW_004936581:1,328,685...1,332,728

G

forkhead box C2

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936641:2,236,224...2,238,501
Ensembl chrNW_004936641:2,236,873...2,238,375

G

forkhead box P3

ClinVar Annotator: match by term: Hydrops fetalis

PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More...

NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308

G

frizzled class receptor 6

ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:25741868 PMID:26036949

NCBI chrNW_004936470:40,416,254...40,454,717
Ensembl chrNW_004936470:40,416,014...40,454,062

G

polypeptide N-acetylgalactosaminyltransferase 14

ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:25741868 PMID:26036949

NCBI chrNW_004936493:1,984,054...2,184,693
Ensembl chrNW_004936493:1,984,238...2,184,271

G

glucuronidase beta

ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More...

NCBI chrNW_004936543:7,721,273...7,732,468
Ensembl chrNW_004936543:7,721,763...7,731,897

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Fetal edema

PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More...

NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958

G

Janus kinase 3

ClinVar Annotator: match by term: Fetal edema

PMID:25741868 PMID:28492532

NCBI chrNW_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048

G

kinesin family member 19

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936655:131,367...156,888
Ensembl chrNW_004936655:131,829...156,888

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:24549645 PMID:25741868

NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Fetal edema

PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More...

NCBI chrNW_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Fetal edema

PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288

NCBI chrNW_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500

G

molybdenum cofactor synthesis 3

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936514:3,830,189...3,832,194
Ensembl chrNW_004936514:3,830,627...3,832,009

G

myosin binding protein H like

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936704:815,325...831,149
Ensembl chrNW_004936704:815,271...830,084

G

myosin XVIIIA

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chrNW_004936538:5,257,165...5,351,757
Ensembl chrNW_004936538:5,258,401...5,344,669

G

myomesin 1

ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284

NCBI chrNW_004936672:1,351,053...1,481,954
Ensembl chrNW_004936672:1,351,002...1,482,124

G

myelin regulatory factor

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936581:1,335,969...1,367,104
Ensembl chrNW_004936581:1,338,762...1,367,104

G

nebulin

ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 More...

NCBI chrNW_004936469:25,837,577...26,040,271
Ensembl chrNW_004936469:25,837,577...26,039,536

G

neuraminidase 1

ClinVar Annotator: match by term: Fetal edema

NCBI chrNW_004936727:1,683,283...1,687,130
Ensembl chrNW_004936727:1,683,204...1,688,883

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936597:1,426,318...1,577,193
Ensembl chrNW_004936597:1,425,974...1,572,715

G

piezo type mechanosensitive ion channel component 1 (Er blood group)

ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More...

NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233

G

phosphatidylinositol glycan anchor biosynthesis class C

ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:25741868 PMID:26036949

NCBI chrNW_004936481:14,962,572...14,964,929
Ensembl chrNW_004936481:14,962,613...14,964,861

G

pre-mRNA processing factor 19

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936581:2,031,894...2,042,294
Ensembl chrNW_004936581:2,031,822...2,042,424

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Fetal edema

PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More...

NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Hydrops fetalis

PMID:10449659 PMID:25741868 PMID:31680349

NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More...

NCBI chrNW_004936580:5,157,351...5,166,790
Ensembl chrNW_004936580:5,156,565...5,167,040

G

Rho associated coiled-coil containing protein kinase 2

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936532:7,142,580...7,284,722
Ensembl chrNW_004936532:7,145,882...7,286,244

G

ryanodine receptor 1

ClinVar Annotator: match by term: Hydrops fetalis

PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More...

NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289

G

ryanodine receptor 3

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066

G

serpin family A member 11

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936846:51,074...57,452
Ensembl chrNW_004936846:51,188...58,246

G

SHOC2 leucine rich repeat scaffold protein

ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More...

NCBI chrNW_004936486:1,723,253...1,809,416

G

SUZ12 polycomb repressive complex 2 subunit

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936538:2,921,987...2,971,521
Ensembl chrNW_004936538:2,921,719...2,971,552

G

SVOP like

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936592:2,966,349...3,025,500
Ensembl chrNW_004936592:2,969,764...3,025,500

G

thrombospondin type 1 domain containing 1

ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:25741868 PMID:26036949 PMID:28749478

NCBI chrNW_004936565:4,925,400...4,952,210
Ensembl chrNW_004936565:4,925,237...4,954,054

G

ubinuclein 1

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936530:4,795,974...4,826,217
Ensembl chrNW_004936530:4,795,968...4,826,137

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Non-immune hydrops fetalis

NCBI chrNW_004936474:955,081...1,194,200
Ensembl chrNW_004936474:955,040...1,195,859

HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia

PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More...

NCBI chrNW_004936695:353,965...492,014
Ensembl chrNW_004936695:350,975...492,011

Hyperemesis Gravidarum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth differentiation factor 15

susceptibility

ClinVar Annotator: match by term: Hyperemesis gravidarum, susceptibility to

PMID:35218128 PMID:38092039

NCBI chrNW_004936596:2,854,620...2,857,018
Ensembl chrNW_004936596:2,854,841...2,857,111

IMAGe syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1C

ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies

PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More...

NCBI chrNW_004936794:1,023,891...1,025,470

IMAGEI Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA polymerase epsilon, catalytic subunit

susceptibility

ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 More...

NCBI chrNW_004936660:2,575,255...2,622,867
Ensembl chrNW_004936660:2,575,360...2,622,852

intrahepatic cholestasis of pregnancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586

G

ATPase phospholipid transporting 8B1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034

G

histone deacetylase 3

severity

NCBI chrNW_004936504:12,530,546...12,546,556
Ensembl chrNW_004936504:12,530,528...12,546,556

G

interleukin 18

severity

NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048

intrahepatic cholestasis of pregnancy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 8B1

ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1

PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 More...

NCBI chrNW_004936497:6,652,240...6,712,960
Ensembl chrNW_004936497:6,652,185...6,713,034

intrahepatic cholestasis of pregnancy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3

PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More...

NCBI chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005

G

ATP binding cassette subfamily B member 4

ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3

PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 More...

NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586

Kniest Like Dysplasia Lethal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: Lethal Kniest-like syndrome

PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More...

NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851

G

low density lipoprotein receptor class A domain containing 2

ClinVar Annotator: match by term: Lethal Kniest-like syndrome

PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chrNW_004936474:7,375,439...7,407,318

Lymphatic Malformation 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MyoD family inhibitor domain containing

ClinVar Annotator: match by term: Lymphatic malformation 12

PMID:25741868 PMID:35235341

NCBI chrNW_004936589:3,838,064...3,925,029
Ensembl chrNW_004936589:3,838,064...3,925,029

Lymphatic Malformation 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thrombospondin type 1 domain containing 1

ClinVar Annotator: match by term: Lymphatic malformation 13

PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873

NCBI chrNW_004936565:4,925,400...4,952,210
Ensembl chrNW_004936565:4,925,237...4,954,054

Lymphatic Malformation 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcitonin receptor like receptor

ClinVar Annotator: match by term: Lymphatic malformation 8

NCBI chrNW_004936506:10,191,789...10,292,355
Ensembl chrNW_004936506:10,249,687...10,292,424

mastitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

NCBI chrNW_004936588:3,985,732...4,023,221

G

toll like receptor 4

mRNA,protein:increased expression:mammary gland:

NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095

Maternal Phenylketonuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phenylalanine hydroxylase

NCBI chrNW_004936492:11,342,566...11,412,323
Ensembl chrNW_004936492:11,342,518...11,412,209

G

phosphoserine phosphatase

NCBI chrNW_004936543:7,900,319...7,922,529
Ensembl chrNW_004936543:7,900,283...7,922,541

meconium aspiration syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

mRNA:increased expression:lung

NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261

G

angiotensin II receptor type 2

treatment

NCBI chrNW_004936479:13,252,678...13,255,570
Ensembl chrNW_004936479:13,252,678...13,255,570

G

activating transcription factor 2

NCBI chrNW_004936509:4,729,984...4,826,367
Ensembl chrNW_004936509:4,732,930...4,826,443

G

secretoglobin family 1A member 1

protein:increased expression:broncho-alveolar lavage fluid, meconium:

NCBI chrNW_004936581:798,738...801,614
Ensembl chrNW_004936581:798,739...801,633

Megaduodenum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin gamma 2, smooth muscle

ClinVar Annotator: match by term: Megacystis

PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 More...

NCBI chrNW_004936556:174,602...220,088
Ensembl chrNW_004936556:174,602...220,285

G

forkhead box F1

ClinVar Annotator: match by term: Fetal megacystis

NCBI chrNW_004943883:4...1,756

Microcephalic Osteodysplastic Primordial Dwarfism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pericentrin

ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357

microcephalic osteodysplastic primordial dwarfism type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytoplasmic linker associated protein 1

ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 | ClinVar Annotator: match by term: Taybi Linder syndrome

PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More...

NCBI chrNW_004936469:49,067,357...49,335,212
Ensembl chrNW_004936469:49,067,012...49,335,219

G

myosin-7

ClinVar Annotator: match by term: Brachymelic primordial dwarfism

PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More...

NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129

G

myosin heavy chain 11

ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I

PMID:25741868 PMID:28492532

NCBI chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610

microcephalic osteodysplastic primordial dwarfism type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pericentrin

ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities | ClinVar Annotator: match by term: PCNT-related condition

PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More...

NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357

Microcephalic Osteodysplastic Primordial Dwarfism, Type III

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytoplasmic linker associated protein 1

ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE | ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III

PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:24865609 More...

NCBI chrNW_004936469:49,067,357...49,335,212
Ensembl chrNW_004936469:49,067,012...49,335,219

G

myosin heavy chain 11

ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE

PMID:25741868 PMID:28492532

NCBI chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE

PMID:25741868 PMID:28492532

NCBI chrNW_004936501:3,193,962...3,234,640
Ensembl chrNW_004936501:3,193,916...3,221,700

mild pre-eclampsia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione peroxidase 3

protein:increased expression:plasma

NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498

Multiple Pterygium Syndrome, Lethal Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cholinergic receptor nicotinic alpha 1 subunit

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More...

NCBI chrNW_004936509:4,452,382...4,470,658
Ensembl chrNW_004936509:4,452,616...4,470,658

G

cholinergic receptor nicotinic delta subunit

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More...

NCBI chrNW_004936525:4,560,293...4,568,431
Ensembl chrNW_004936525:4,561,507...4,568,409

G

cholinergic receptor nicotinic gamma subunit

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More...

NCBI chrNW_004936525:4,550,987...4,556,574
Ensembl chrNW_004936525:4,550,987...4,556,576

G

DIS3 like 3'-5' exoribonuclease 2

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chrNW_004936525:4,718,773...5,058,512
Ensembl chrNW_004936525:4,719,121...5,008,014

G

endothelin converting enzyme like 1

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chrNW_004936525:4,599,840...4,608,469
Ensembl chrNW_004936525:4,600,246...4,608,508

G

intestinal-type alkaline phosphatase

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chrNW_004936525:4,616,212...4,619,932

G

serine protease 56

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chrNW_004936525:4,568,854...4,574,332
Ensembl chrNW_004936525:4,568,802...4,574,396

Neu-Laxova syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoglycerate dehydrogenase

ClinVar Annotator: match by term: Neu-Laxova syndrome 1

PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More...

NCBI chrNW_004936627:4,414,122...4,448,347
Ensembl chrNW_004936627:4,414,122...4,448,623

G

phosphoserine aminotransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936632:4,392,165...4,422,670
Ensembl chrNW_004936632:4,391,459...4,423,264

Nuchal Bleb, Familial

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Fetal cystic hygroma

PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More...

NCBI chrNW_004936589:1,565,933...1,719,208

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Fetal cystic hygroma

PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More...

NCBI chrNW_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Nuchal bleb, familial

PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More...

NCBI chrNW_004936508:12,162,553...12,281,812
Ensembl chrNW_004936508:12,162,547...12,281,820

oligohydramnios

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

ClinVar Annotator: match by term: Anhydramnios

PMID:25741868 PMID:35005812

NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261

G

DnaJ heat shock protein family (Hsp40) member B11

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chrNW_004936578:3,360,259...3,374,634
Ensembl chrNW_004936578:3,360,259...3,374,612

G

inverted formin 2

ClinVar Annotator: match by term: Oligohydramnios

NCBI chrNW_004936621:677,548...693,609
Ensembl chrNW_004936621:682,027...693,605

G

nephrocystin 3

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447

G

platelet derived growth factor subunit A

mRNA, protein:increased expression:lung

NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613

G

platelet derived growth factor subunit B

mRNA, protein:increased expression:lung

NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573

G

platelet derived growth factor receptor alpha

mRNA:increased expression:lung

NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587

G

platelet derived growth factor receptor beta

mRNA:increased expression:lung

NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829

G

podoplanin

mRNA, protein:decreased expression:lung

NCBI chrNW_004936474:1,751,159...1,779,011
Ensembl chrNW_004936474:1,750,944...1,781,156

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179

G

polycystin 2, transient receptor potential cation channel

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chrNW_004936905:76,781...128,995

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios

PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 More...

NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863

G

transmembrane protein 67

ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios

PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More...

NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179

Oocyte/Zygote/Embryo Maturation Arrest 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TLE family member 6, subcortical maternal complex member

ClinVar Annotator: match by term: Preimplantation embryonic lethality 1

PMID:25741868 PMID:26537248 PMID:36271123

NCBI chrNW_004936588:1,708,013...1,717,956

Oocyte/Zygote/Embryo Maturation Arrest 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peptidyl arginine deiminase 6

ClinVar Annotator: match by term: Preimplantation embryonic lethality 2

PMID:17587491 PMID:18599511 PMID:25741868 PMID:27545678 PMID:34987164 More...

NCBI chrNW_004936474:4,242,863...4,262,154
Ensembl chrNW_004936474:4,245,135...4,262,154

Perinatal Death

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin receptor type B

NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434

G

FAM20C golgi associated secretory pathway kinase

ClinVar Annotator: match by term: Neonatal death

NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098

G

FA complementation group D2

NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868

G

potassium calcium-activated channel subfamily M alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936521:2,000,113...2,706,010
Ensembl chrNW_004936521:2,000,109...2,705,365

G

laminin subunit gamma 3

ClinVar Annotator: match by term: Neonatal death

PMID:25741868 PMID:28492532 PMID:33639934

NCBI chrNW_004936487:17,910,673...17,958,641
Ensembl chrNW_004936487:17,915,104...17,957,596

G

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

ClinVar Annotator: match by term: Neonatal death

PMID:22958903 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31130284

NCBI chrNW_004936695:2,117,506...2,141,859
Ensembl chrNW_004936695:2,139,661...2,141,403

G

spindle apparatus coiled-coil protein 1

ClinVar Annotator: match by term: Neonatal death

NCBI chrNW_004936688:840,345...841,808

G

WD repeat domain 81

ClinVar Annotator: match by term: Neonatal death

PMID:25558065 PMID:25741868 PMID:28556411

NCBI chrNW_004936538:7,856,263...7,868,249
Ensembl chrNW_004936538:7,856,185...7,868,259

G

zinc finger protein, FOG family member 2

NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662

Perlman syndrome

term browser