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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Rat (806) Mouse (814) Human (10949) Chinchilla (701) Bonobo (754) Dog (780) Squirrel (708) Pig (769) Green Monkey (739) Naked Mole-rat (695) All
Genes (780)

Pregnancy Complications

term browser

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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 chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

fatty acid amide hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr15:14,023,111...14,040,156
Ensembl chr15:14,023,299...14,040,212

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

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killer cell lectin like receptor K1

treatment

associated with Animal Toxoplasmosis

NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882

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nuclear receptor coactivator 2

mRNA:decreased expression:uterus (rat)

NCBI chr29:19,253,849...19,471,640
Ensembl chr29:19,222,842...19,545,371

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NFKB inhibitor alpha

susceptibility

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

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

serpin family E member 1

DNA:polymorphism:promoter:rs1799768 (human)

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

Bowen-Conradi syndrome

term browser

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Object Name

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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 chr27:38,069,089...38,075,577
Ensembl chr27:38,068,231...38,076,300

Cardiovascular Pregnancy Complications

term browser

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Object Name

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Notes

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PubMed Reference(s)

RGD Reference(s)

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G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

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prolactin

CTD Direct Evidence: marker/mechanism

NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824

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tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

central conducting lymphatic anomaly

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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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 chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324

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MyoD family inhibitor domain containing

ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY

PMID:25741868 PMID:35235341

NCBI chr14:54,063,832...54,153,346
Ensembl chr14:54,063,769...54,166,197

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solute carrier family 12 member 9

ClinVar Annotator: match by term: Lymphatic malformation 7

PMID:25741868 PMID:28492532

NCBI chr 6:8,898,536...8,908,057
Ensembl chr 6:8,898,520...8,907,997

chorioamnionitis

term browser

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RGD Reference(s)

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G

advanced glycosylation end-product specific receptor

NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129

G

B9 domain containing 2

severity

protein:increased expression:amniotic fluid

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

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Fas cell surface death receptor

protein:increased expression:villous trophoblast

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

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interleukin 6

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

PMID:15547537 PMID:25011638 PMID:25687566

RGD:12791291 RGD:12792243 RGD:5128667

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

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lymphotoxin alpha

severity

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

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

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mannose binding lectin 1

susceptibility

DNA:polymorphism:exon:p.G54D(human)

NCBI chr 4:29,419,886...29,424,377

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matrix metallopeptidase 9

severity

protein:increased expression:respiratory system fluid/secretion

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

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tumor necrosis factor

severity
no_association

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

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

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triggering receptor expressed on myeloid cells 1

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

NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236

choriocarcinoma

term browser

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RGD Reference(s)

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G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468

G

insulin like growth factor 2

disease_progression

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

NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982

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insulin receptor

disease_progression

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

NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046

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platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

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platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

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TIMP metallopeptidase inhibitor 3

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

NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288

chromosome 17q11.2 deletion syndrome

term browser

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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 chr 9:40,794,772...40,809,022
Ensembl chr 9:40,795,297...40,808,737

dehydrated hereditary stomatocytosis 1

term browser

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RGD Reference(s)

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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 chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701

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piezo type mechanosensitive ion channel component 1

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 chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375

Diabetic Embryopathy

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

Fas associated via death domain

NCBI chr18:48,087,447...48,094,497

eclampsia

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

interleukin 6

treatment

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

Embryo Loss

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

C-X-C motif chemokine ligand 12

associated with Diabetes Mellitus, Insulin-Dependent

NCBI chr28:2,895,916...2,903,543

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198

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glutathione peroxidase 4

CTD Direct Evidence: marker/mechanism

G

G protein-coupled receptor kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428

G

insulin like growth factor 2

DNA:methylation: :

NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982

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interleukin 18

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

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leucine carboxyl methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:21,026,125...21,066,884
Ensembl chr 6:21,026,186...21,066,876

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LIF interleukin 6 family cytokine

CTD Direct Evidence: marker/mechanism

NCBI chr26:23,400,226...23,418,538
Ensembl chr26:23,403,364...23,406,851

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mitogen-activated protein kinase kinase kinase 7

NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850

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microRNA mir-105b

CTD Direct Evidence: marker/mechanism

NCBI chr X:120,405,349...120,405,428
Ensembl chr X:120,405,349...120,405,428

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NLR family pyrin domain containing 5

ClinVar Annotator: match by term: Preimplantation embryonic lethality

NCBI chr 1:101,813,449...101,842,643
Ensembl chr 1:101,813,449...101,842,633

G

poly(ADP-ribose) glycohydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr28:1,651,698...1,767,210
Ensembl chr28:1,652,670...1,766,895

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spalt like transcription factor 1

NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521

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spalt like transcription factor 4

NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287

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solute carrier family 31 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:67,590,087...67,628,947
Ensembl chr11:67,591,080...67,625,798

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

NCBI chr 1:40,125,842...40,216,455
Ensembl chr 1:40,149,569...40,215,385

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TNF receptor superfamily member 1A

NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282

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ubiquitin conjugating enzyme E2 N

CTD Direct Evidence: marker/mechanism

NCBI chr10:41,470,073...41,470,738
Ensembl chr10:41,470,073...41,470,738

familial gestational hyperthyroidism

term browser

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PubMed Reference(s)

RGD Reference(s)

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centrosomal protein 128

ClinVar Annotator: match by term: Familial gestational hyperthyroidism

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 8:52,915,455...53,311,963
Ensembl chr 8:52,916,182...53,311,733

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thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Familial gestational hyperthyroidism

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

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

fetal akinesia deformation sequence syndrome

term browser

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Object Name

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PubMed Reference(s)

RGD Reference(s)

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actin alpha 1, skeletal muscle

ClinVar Annotator: match by term: Fetal akinesia deformation sequence

PMID:25741868 PMID:33060286

NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530

G

docking protein 7

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

PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 More...

NCBI chr 3:60,873,298...60,897,047
Ensembl chr 3:60,869,206...60,897,318

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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 chr11:65,552,320...65,642,165
Ensembl chr11:65,551,889...65,642,349

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proteoglycan 4

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

PMID:25741868 PMID:31680123

NCBI chr 7:19,360,034...19,377,005
Ensembl chr 7:19,364,609...19,376,999

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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 chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673

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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 chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493

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vacuolar protein sorting 13 homolog D

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529

fetal akinesia deformation sequence syndrome 1

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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acid phosphatase 2, lysosomal

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

PMID:17686188 PMID:28492532

NCBI chr18:42,346,207...42,356,447
Ensembl chr18:42,345,608...42,354,352

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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 chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530

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adducin 1

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

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

NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830

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adenylosuccinate synthase 1

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

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

NCBI chr 8:72,288,246...72,305,479
Ensembl chr 8:72,288,323...72,305,479

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aldehyde dehydrogenase 5 family member A1

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

PMID:25741868 PMID:31680123

NCBI chr35:22,560,005...22,590,996
Ensembl chr35:22,560,008...22,587,875

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ADP ribosylation factor GTPase activating protein 2

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

PMID:17686188 PMID:28492532

NCBI chr18:42,399,743...42,410,044
Ensembl chr18:42,399,815...42,409,382

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N-acylsphingosine amidohydrolase 1

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

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

NCBI chr16:41,297,215...41,335,521
Ensembl chr16:41,297,809...41,323,078

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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 chr 4:22,779,644...22,876,434
Ensembl chr 4:22,779,781...22,874,215

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assembly factor for spindle microtubules

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

PMID:25741868 PMID:31680123

NCBI chr 7:5,591,530...5,663,673
Ensembl chr 7:5,590,957...5,660,919

G

ATPase plasma membrane Ca2+ transporting 3

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

PMID:25741868 PMID:31680123

NCBI chr X:121,355,217...121,405,245
Ensembl chr X:121,361,239...121,403,609

G

apoptosis and caspase activation inhibitor

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

PMID:25741868 PMID:31680123

NCBI chr30:1,000,781...1,179,463
Ensembl chr30:991,954...1,179,114

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bridge-like lipid transfer protein family member 1

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

PMID:25741868 PMID:31680123

NCBI chr19:17,841,450...18,047,002
Ensembl chr19:17,841,967...18,044,276

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cholinergic receptor nicotinic delta subunit

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

PMID:25741868 PMID:31680123

NCBI chr25:44,166,089...44,175,047
Ensembl chr25:44,165,819...44,174,216

G

contactin associated protein 1

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

PMID:25741868 PMID:31680123

NCBI chr 9:20,293,184...20,307,708
Ensembl chr 9:20,293,170...20,307,662

G

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

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

PMID:17686188 PMID:28492532

NCBI chr18:42,410,230...42,604,987
Ensembl chr18:42,410,245...42,604,930

G

damage specific DNA binding protein 2

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

PMID:17686188 PMID:28492532

NCBI chr18:42,354,201...42,378,463
Ensembl chr18:42,354,572...42,377,947

G

docking protein 7

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

PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More...

NCBI chr 3:60,873,298...60,897,047
Ensembl chr 3:60,869,206...60,897,318

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DEAQ-box RNA dependent ATPase 1

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

PMID:25741868 PMID:31680123

NCBI chr17:48,617,170...48,623,591
Ensembl chr17:48,617,613...48,623,591

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dynein cytoplasmic 1 heavy chain 1

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825

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glutamyl-tRNA synthetase 2, mitochondrial

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr 6:22,276,189...22,299,865
Ensembl chr 6:22,276,230...22,297,428

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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 chr11:54,072,993...54,079,024
Ensembl chr11:54,073,313...54,078,598

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fibulin 1

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

PMID:25741868 PMID:31680123

NCBI chr10:20,498,097...20,564,776
Ensembl chr10:20,498,567...20,627,836

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fibrillin 2

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

NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536

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1,4-alpha-glucan branching enzyme 1

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612

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GCN1 activator of EIF2AK4

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

PMID:25741868 PMID:31680123

NCBI chr26:16,087,380...16,146,865
Ensembl chr26:16,087,382...16,146,813

G

GDNF family receptor alpha 4

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

PMID:25741868 PMID:31680123

NCBI chr24:17,685,888...17,690,747
Ensembl chr24:17,686,817...17,690,056

G

gliomedin

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

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

NCBI chr30:17,082,380...17,145,424
Ensembl chr30:17,082,380...17,141,871

G

G protein-coupled receptor kinase 4

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

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

NCBI chr 3:61,233,066...61,331,094
Ensembl chr 3:61,079,904...61,330,290

G

HGF activator

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

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

NCBI chr 3:60,906,839...60,916,879
Ensembl chr 3:60,906,844...60,915,280

G

huntingtin

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

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

NCBI chr 3:61,076,934...61,221,462
Ensembl chr 3:61,079,904...61,330,290

G

IQ motif and Sec7 domain ArfGEF 3

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

PMID:25741868 PMID:31680123

NCBI chr27:42,149,006...42,259,881
Ensembl chr27:42,148,956...42,256,790

G

leucine rich repeat LGI family member 4

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

PMID:25741868 PMID:31680123

NCBI chr 1:117,443,569...117,452,367
Ensembl chr 1:117,444,941...117,452,381

G

thioredoxin-like

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

NCBI chr X:82,986,288...82,986,753

G

LDL receptor related protein 4

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

PMID:17686188 PMID:28492532

NCBI chr18:42,616,683...42,667,297
Ensembl chr18:42,616,426...42,665,794

G

MAP kinase activating death domain

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

PMID:17686188 PMID:28492532

NCBI chr18:42,290,226...42,332,237
Ensembl chr18:42,290,754...42,328,586

G

membrane associated guanylate kinase, WW and PDZ domain containing 3

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

PMID:25741868 PMID:31680123

NCBI chr17:62,055,705...62,290,808
Ensembl chr17:62,057,610...62,291,157

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 chr 3:61,352,047...61,357,393
Ensembl chr 3:61,352,109...61,355,997

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 chr 3:61,058,993...61,076,816
Ensembl chr 3:61,064,335...61,075,072

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 chr11:65,552,320...65,642,165
Ensembl chr11:65,551,889...65,642,349

G

myosin binding protein C3

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

PMID:17686188 PMID:28492532

NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215

G

alpha-N-acetylgalactosaminidase

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

PMID:25741868 PMID:31680123

NCBI chr10:23,303,950...23,312,409
Ensembl chr10:23,304,354...23,396,068

G

sodium leak channel, non-selective

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

PMID:25741868 PMID:27214504 PMID:31680123

NCBI chr22:50,821,983...51,142,000
Ensembl chr22:50,823,478...51,141,644

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 chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

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 chr 3:61,330,987...61,350,596
Ensembl chr 3:61,330,981...61,350,596

G

nuclear receptor subfamily 1 group H member 3

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

PMID:17686188 PMID:28492532

NCBI chr18:42,333,173...42,346,152
Ensembl chr18:42,333,202...42,341,236

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 chr18:42,378,692...42,399,225
Ensembl chr18:42,389,951...42,398,924

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 chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723

G

proteoglycan 4

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:31680123

NCBI chr 7:19,360,034...19,377,005
Ensembl chr 7:19,364,609...19,376,999

G

prickle planar cell polarity protein 1

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

PMID:25741868 PMID:31680123

NCBI chr27:11,327,086...11,437,799
Ensembl chr27:11,426,647...11,437,303

G

proteasome 26S subunit, ATPase 3

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

PMID:17686188 PMID:28492532

NCBI chr18:42,212,083...42,218,958

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 chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673

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 chr 3:60,917,033...61,011,812
Ensembl chr 3:60,917,072...61,009,131

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 chr 1:95,209,122...95,280,956
Ensembl chr 1:95,088,745...95,280,151

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 chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493

G

ryanodine receptor 3

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

PMID:25741868 PMID:31680123

NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619

G

sodium voltage-gated channel alpha subunit 4

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

PMID:25741868 PMID:31680123

NCBI chr 9:11,849,066...11,893,689
Ensembl chr 9:11,851,347...11,877,767

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 chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560

G

sodium voltage-gated channel alpha subunit 8

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

PMID:25741868 PMID:31680123

NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482

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 chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005

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 chr 3:61,454,945...61,488,951
Ensembl chr 3:61,358,162...61,474,830

G

solute carrier family 39 member 13

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

PMID:17686188 PMID:28492532

NCBI chr18:42,221,311...42,229,992
Ensembl chr18:42,222,333...42,227,361

G

sperm associated antigen 16

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

PMID:25741868 PMID:31680123

NCBI chr37:20,782,855...21,690,523
Ensembl chr37:20,782,867...21,690,333

G

Spi-1 proto-oncogene

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

PMID:17686188 PMID:28492532

NCBI chr18:42,253,849...42,269,497
Ensembl chr18:42,253,811...42,269,727

G

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

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

NCBI chr11:65,312,723...65,494,014
Ensembl chr11:65,289,087...65,637,974

G

thymopoietin

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

PMID:25741868 PMID:31680123

NCBI chr15:37,923,392...37,959,979
Ensembl chr15:37,932,891...37,959,246

G

thioredoxin

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

NCBI chr11:65,228,807...65,291,274

G

unc-50 inner nuclear membrane RNA binding protein

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

PMID:25741868 PMID:31680123

NCBI chr10:44,057,617...44,073,153
Ensembl chr10:44,057,775...44,073,074

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529

G

zinc finger E-box binding homeobox 2

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

PMID:25741868 PMID:31680123

NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122

G

zinc finger protein 875

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

PMID:25741868 PMID:31680123

NCBI chr 1:115,286,448...115,308,123
Ensembl chr 1:115,286,493...115,348,660

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 chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673

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 chr 5:47,435,209...47,653,312
Ensembl chr 5:47,462,224...47,653,163

G

docking protein 7

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

PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 More...

NCBI chr 3:60,873,298...60,897,047
Ensembl chr 3:60,869,206...60,897,318

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 chr 5:31,366,213...31,389,780
Ensembl chr 5:31,366,244...31,389,780

G

rabaptin, RAB GTPase binding effector protein 1

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

NCBI chr 5:31,390,873...31,442,585
Ensembl chr 5:31,391,576...31,491,506

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 chr 4:12,166,275...12,827,175
Ensembl chr 4:12,167,550...12,827,037

G

apolipoprotein E

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

BPI fold containing family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:22,475,407...22,482,666
Ensembl chr24:22,457,631...22,482,661

G

complement C3

protein:increased activity:blood

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

complement C5

protein:increased activity:blood

NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851

G

catalase

CTD Direct Evidence: therapeutic

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

corticotropin releasing hormone receptor 1

sexual_dimorphism

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

NCBI chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402

G

iodothyronine deiodinase 3

treatment

NCBI chr 8:69,696,779...69,698,880

G

DNA methyltransferase 1

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

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

G

DNA methyltransferase 3 beta

mRNA:increased expression:pituitary gland (rat)

NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900

G

dopamine receptor D2

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

PMID:26509893 PMID:28710248

RGD:11344152 RGD:401960105

NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241

G

euchromatic histone lysine methyltransferase 2

mRNA:increased expression:pituitary gland (rat)

NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584

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 chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764

G

gamma-aminobutyric acid type A receptor subunit gamma2

mRNA:increased expression:posterior hypothalamic region (rat)

NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

PMID:22037411 PMID:23763370

RGD:13210751 RGD:13432044

NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680

G

histone deacetylase 2

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

NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578

G

histone deacetylase 4

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

NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478

G

hydroxysteroid 11-beta dehydrogenase 2

protein:increased expression:placenta (rat)

NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991

G

insulin like growth factor 1

mRNA:decreased expression:cerebellum (rat)

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

insulin like growth factor 1 receptor

protein:decreased activity:cerebellum (rat)

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

methionine adenosyltransferase 2A

mRNA:decreased expression:brain (rat)

NCBI chr17:39,525,635...39,532,512
Ensembl chr17:39,525,626...39,532,512

G

methyl-CpG binding protein 2

treatment

mRNA:increased expression:pituitary gland (rat)

PMID:23763370 PMID:26509893

RGD:11344152 RGD:13432044

NCBI chr X:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994

G

microRNA mir-326

miRNA:increases expression:pituitary gland (rat)

NCBI chr21:23,240,463...23,240,553
Ensembl chr21:23,240,463...23,240,553

G

microRNA mir-7-3

miRNA:increased expression:pituitary gland (rat)

NCBI chr20:54,993,200...54,993,287
Ensembl chr20:54,993,200...54,993,287

G

5-methyltetrahydrofolate-homocysteine methyltransferase

mRNA:decreased expression:brain (rat)

NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115

G

nitric oxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332

G

nuclear receptor subfamily 3 group C member 2

sexual_dimorphism

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

NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131

G

opioid receptor kappa 1

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

NCBI chr29:5,022,270...5,054,223
Ensembl chr29:5,025,786...5,051,919

G

opioid related nociceptin receptor 1

mRNA:decreased expression:ventral tegmental area

NCBI chr24:47,530,039...47,537,477
Ensembl chr24:47,508,136...47,537,250

G

prodynorphin

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

NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364

G

period circadian regulator 2

treatment

NCBI chr25:48,716,499...48,761,617
Ensembl chr25:48,717,173...48,758,755

G

prepronociceptin

mRNA:increased expression:nucleus accumbens

NCBI chr25:29,223,758...29,246,487
Ensembl chr25:29,224,092...29,245,851

G

proopiomelanocortin

treatment

NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440

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 chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824

G

phosphatase and tensin homolog

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

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

Ras protein specific guanine nucleotide releasing factor 1

treatment

NCBI chr 3:57,995,092...58,085,395
Ensembl chr 3:57,995,786...58,085,380

G

ribosomal protein S6 kinase A1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:73,497,128...73,533,853
Ensembl chr 2:73,497,473...73,534,378

G

SET domain containing 7, histone lysine methyltransferase

mRNA:decreased expression:pituitary gland (rat)

NCBI chr19:3,186,620...3,229,305
Ensembl chr19:3,186,906...3,224,113

G

solute carrier family 25 member 12

treatment

NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016

G

solute carrier family 6 member 4

mRNA:decreased expression:brain (rat)

NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736

G

toll like receptor 4

ameliorates

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

ubiquitin protein ligase E3A

treatment

NCBI chr 3:35,347,034...35,442,329
Ensembl chr 3:35,347,064...35,440,256

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 chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215

Fetal Death

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

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

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

alpha hemoglobin stabilizing protein

mRNA, protein:decreased expression:placenta (human)

NCBI chr 6:16,744,879...16,745,826
Ensembl chr 6:16,744,879...16,745,745

G

ATR serine/threonine kinase

NCBI chr23:38,131,956...38,223,888
Ensembl chr23:38,132,788...38,224,016

G

coagulation factor V

no_association

NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296

G

grainyhead like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496

G

heat shock protein family D (Hsp60) member 1

NCBI chr37:7,010,421...7,025,912

G

lysophosphatidic acid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:65,690,806...65,822,166
Ensembl chr11:65,692,973...65,822,312

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

oxytocin/neurophysin I prepropeptide

CTD Direct Evidence: marker/mechanism

NCBI chr24:18,193,381...18,194,232
Ensembl chr24:18,193,339...18,194,170

G

platelet derived growth factor receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278

G

retinol dehydrogenase 10

CTD Direct Evidence: marker/mechanism

NCBI chr29:21,886,014...21,912,451
Ensembl chr29:21,885,012...21,911,303

G

tissue factor pathway inhibitor

associated with Hemorrhage;

NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310

G

TNF receptor superfamily member 1B

associated with Endotoxemia; human protein in rat model

NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191

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 chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512

G

nitric oxide synthase 2

associated with Diabetes Mellitus, Experimental

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

protein kinase C beta

associated with Diabetes Mellitus, Experimental;protein:increased expression

NCBI chr 6:21,742,970...22,064,360
Ensembl chr 6:21,742,973...22,065,185

G

serine protease 8

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,110,251...17,114,564
Ensembl chr 6:17,110,300...17,114,816

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 chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512

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 chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727

G

angiotensin I converting enzyme

mRNA:increased expression:kidney (rat)

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753

G

adiponectin, C1Q and collagen domain containing

treatment

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

adiponectin receptor 1

treatment

NCBI chr 7:240,035...254,287
Ensembl chr 7:240,065...282,845

G

adiponectin receptor 2

treatment

NCBI chr27:43,739,269...43,840,116
Ensembl chr27:43,741,679...43,878,467

G

angiotensinogen

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

PMID:17537837 PMID:20530295 PMID:26270574

RGD:11538508 RGD:13432363

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

angiotensin II receptor type 1

NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238

G

angiotensin II receptor type 2

NCBI chr X:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853

G

aldehyde dehydrogenase 18 family member A1

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

NCBI chr28:9,101,578...9,148,063
Ensembl chr28:9,102,282...9,147,992

G

anaphase promoting complex subunit 2

protein:increased expression:serum (human)

NCBI chr 9:48,475,777...48,486,715
Ensembl chr 9:48,471,584...48,609,303

G

apolipoprotein E

mRNA:increased expression:adrenal gland (rat)

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

apolipoprotein H

NCBI chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185

G

arginase 1

RNA:increased expression:thoracic aorta:

NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305

G

ATP synthase F1 subunit alpha

protein:increased expression:retroperitoneal fat pad (rat)

NCBI chr 7:45,118,188...45,127,048
Ensembl chr 7:45,117,657...45,127,048

G

ATP synthase F1 subunit beta

protein:decreased expression:liver (rat)

NCBI chr10:870,405...876,937
Ensembl chr10:870,392...909,161

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464

G

BCL2 apoptosis regulator

treatment

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

bone morphogenetic protein 4

NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557

G

calcium voltage-gated channel subunit alpha1 C

protein:decreased expression:pancreas (rat)

NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429

G

calcium voltage-gated channel subunit alpha1 D

protein:decreased expression:pancreas (rat)

NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635

G

caspase 3

treatment

NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505

G

collagen type II alpha 1 chain

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

NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

G

catechol-O-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008

G

carbamoyl-phosphate synthase 1

NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697

G

cystathionine gamma-lyase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451

G

cytochrome P450 family 11 subfamily A member 1

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

NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507

G

cytochrome P450 family 1 subfamily A member 1

mRNA:increased expression:placenta

PMID:16225763 PMID:17706398 PMID:18442069

RGD:11576311 RGD:11576317 RGD:2306659

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

DEAD-box helicase 23

ClinVar Annotator: match by term: Intrauterine growth retardation

PMID:25741868 PMID:34050707

NCBI chr27:5,690,452...5,704,762
Ensembl chr27:5,693,931...5,704,778

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:68,961,975...68,970,106
Ensembl chr 8:68,961,744...68,972,761

G

DNA methyltransferase 1

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

PMID:12869365 PMID:16380407 PMID:24717552

RGD:9588242 RGD:9588619 RGD:9590296

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

G

DNA methyltransferase 3 beta

mRNA:increased expression:adrenal gland:

NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900

G

dual specificity phosphatase 1

NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514

G

dual specificity phosphatase 5

NCBI chr28:21,829,891...21,844,590
Ensembl chr28:21,829,921...21,841,454

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 chr 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334

G

ETS transcription factor ELK1

mRNA:decreased expression:placenta

NCBI chr X:41,256,205...41,270,656
Ensembl chr X:41,257,482...41,270,776

G

estrogen related receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr38:11,825,055...12,439,143
Ensembl chr38:11,823,520...12,256,028

G

Fas cell surface death receptor

susceptibility

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

PMID:15695771 PMID:16169656

RGD:12903973 RGD:12904025

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

Fas ligand

severity

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

PMID:16169656 PMID:23582102

RGD:12903972 RGD:12904025

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467

G

FTO alpha-ketoglutarate dependent dioxygenase

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

NCBI chr 2:61,699,864...62,080,199
Ensembl chr 2:61,652,236...62,080,059

G

glucose-6-phosphatase catalytic subunit 1

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

PMID:15448092 PMID:23744881

RGD:14695550 RGD:2315963

NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642

G

glial cell derived neurotrophic factor

mRNA, protein:decreased expression:kidney

NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714

G

ghrelin and obestatin prepropeptide

disease_progression

NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510

G

growth hormone secretagogue receptor

disease_progression

NCBI chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312

G

glutamate dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:34,629,046...34,662,711

G

glutamate ionotropic receptor AMPA type subunit 1

protein:decreased expression:cerebral cortical neuron (rat)

NCBI chr 4:55,801,269...56,103,383
Ensembl chr 4:55,803,296...56,103,669

G

glutamate ionotropic receptor NMDA type subunit 2A

protein:decreased expression:cerebral cortical neuron (rat)

NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

mRNA:decreased expression

NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508

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 chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186

G

histone deacetylase 2

mRNA:increased expression:adrenal gland:

NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578

G

hepatocyte nuclear factor 4 alpha

DNA:altered methylation:prompter:

NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916

G

hydroxysteroid 11-beta dehydrogenase 2

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

NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991

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 chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

insulin like growth factor 1 receptor

onset

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

PMID:12536576 PMID:14657428 PMID:24239160

RGD:12904720 RGD:12904724 RGD:1624299

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

insulin like growth factor 2

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

PMID:1408464 PMID:12087403 PMID:16040806

NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982

G

insulin like growth factor 2 receptor

mRNA:increased expresssion:fetus:

NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277

G

insulin like growth factor binding protein 3

treatment

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

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

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

NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392

G

interleukin 1 alpha

mRNA:increased expression:placenta

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

insulin receptor substrate 1

mRNA,protein:decreased expression:growth plate:

NCBI chr25:39,624,554...39,687,991

G

insulin receptor substrate 2

NCBI chr22:58,197,016...58,229,026
Ensembl chr22:58,223,387...58,227,535

G

leptin

NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395

G

MDM2 proto-oncogene

mRNA:decreased expression:cerebrum (rat)

NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596

G

methyl-CpG binding protein 2

mRNA,protein:decreased expression:hippocampus:

NCBI chr X:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994

G

matrix metallopeptidase 2

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

PMID:17367869 PMID:28157488

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

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 chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453

G

mucin 1, cell surface associated

NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690

G

mucin 2, oligomeric mucus/gel-forming

NCBI chr18:45,416,347...45,438,226

G

mucin 4, cell surface associated

NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802

G

NFE2 like bZIP transcription factor 2

treatment

protein:decreased expression:placenta

PMID:23910525 PMID:25171874

RGD:10412716 RGD:26884462

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

nitric oxide synthase 1

associated with hyperinsulinemia; protein:decreased expression:placenta

NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332

G

nitric oxide synthase 2

associated with hyperinsulinemia; protein:increased expression:placenta

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

nitric oxide synthase 3

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

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

RGD:13792602 RGD:5132592

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

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 chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755

G

origin recognition complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:8,965,339...8,995,527
Ensembl chr15:8,971,732...8,995,481

G

ornithine transcarbamylase

mRNA:altered expression:liver (rat)

NCBI chr X:33,130,921...33,200,441
Ensembl chr X:33,131,040...33,199,595

G

phosphoenolpyruvate carboxykinase 1

mRNA:decreased expression:liver:

NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198

G

platelet derived growth factor subunit A

mRNA:increased expression:placenta

NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396

G

platelet derived growth factor subunit B

mRNA:increased expression:placenta

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

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 chr25:11,741,863...11,746,885
Ensembl chr25:11,741,863...11,746,885

G

proopiomelanocortin

mRNA, protein:decreased expression:hypothalamus

NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440

G

peroxisome proliferator activated receptor gamma

mRNA:decreased expression:lung (rat)

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

PPARG coactivator 1 alpha

mRNA, protein:increased expression:liver (rat)

NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269

G

peroxiredoxin 6

protein:decreased expression:placenta

NCBI chr 7:25,663,238...25,675,855
Ensembl chr 7:25,663,579...25,675,754

G

prostaglandin E receptor 3

mRNA, protein:increased expression:placenta (rat)

NCBI chr 6:74,932,789...74,986,573

G

prostaglandin-endoperoxide synthase 2

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

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine phosphatase non-receptor type 11

treatment

with postnatal growth restriction

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

retinol binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:35,677,844...35,698,194
Ensembl chr23:35,679,176...35,698,363

G

renin

CTD Direct Evidence: marker/mechanism

NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012

G

serpin family E member 1

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

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

SIN3 transcription regulator family member A

NCBI chr30:38,231,844...38,306,665
Ensembl chr30:38,232,680...38,382,635

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 chr15:463,307...493,145
Ensembl chr15:463,237...493,140

G

solute carrier family 2 member 2

mRNA, protein:decreased expression:liver

NCBI chr34:35,368,583...35,398,197
Ensembl chr34:35,370,192...35,400,409

G

solute carrier family 2 member 3

protein:increased expression:placenta

NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410

G

solute carrier family 38 member 2

mRNA, protein:decreased expression:placenta

NCBI chr27:8,056,289...8,068,988
Ensembl chr27:8,018,880...8,066,331

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

sterol regulatory element binding transcription factor 1

NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776

G

steroidogenic acute regulatory protein

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

NCBI chr16:27,326,355...27,331,025
Ensembl chr16:27,326,355...27,331,025

G

trefoil factor 3

NCBI chr31:36,638,762...36,641,696

G

unc-13 homolog A

NCBI chr20:45,179,275...45,237,544
Ensembl chr20:45,188,750...45,238,115

G

vitamin D receptor

mRNA,protein:decreased expression:placenta:

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Intrauterine growth restriction

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935

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 chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384

G

corticotropin releasing hormone receptor 1

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

NCBI chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402

G

corticotropin releasing hormone receptor 2

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

NCBI chr14:43,366,849...43,414,398
Ensembl chr14:43,368,340...43,415,142

G

early growth response 1

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

matrix metallopeptidase 1

protein:altered expression:heart (rat)

NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648

G

matrix metallopeptidase 13

protein:increased expression:heart (rat)

NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121

G

nitric oxide synthase 1

NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332

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 chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

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 chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916

G

insulin like growth factor 1

protein:increased expression:serum:

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

insulin like growth factor binding protein 3

protein:increased expression:serum:

NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392

G

lipase C, hepatic type

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

NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037

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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

collagen type I alpha 2 chain

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

NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527

G

monoamine oxidase A

CTD Direct Evidence: marker/mechanism

NCBI chr X:37,678,933...37,744,757
Ensembl chr X:37,677,493...37,744,757

G

NPHS2 stomatin family member, podocin

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

NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020

G

zinc finger E-box binding homeobox 2

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

NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122

Fetal Resorption

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein H

NCBI chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185

G

prolactin

CTD Direct Evidence: therapeutic

NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824

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 chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824

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

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

PMID:15126557 PMID:19626510 PMID:23608331

RGD:2313236 RGD:8695950

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

alpha 2-HS glycoprotein

protein:increased expression:serum

NCBI chr34:19,221,034...19,228,866
Ensembl chr34:19,221,107...19,228,716

G

angiopoietin like 6

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

NCBI chr20:50,953,029...50,961,598
Ensembl chr20:50,953,498...50,961,576

G

apolipoprotein D

NCBI chr33:30,490,149...30,504,804
Ensembl chr33:30,488,135...30,509,289

G

androgen receptor

CTD Direct Evidence: marker/mechanism

NCBI chr24:34,713,390...34,731,461
NCBI chr X:51,969,785...52,167,450
Ensembl chr X:51,969,785...52,151,912

G

ATPase plasma membrane Ca2+ transporting 1

mRNA:decreased expression:placenta (human)

NCBI chr15:30,547,009...30,674,094
Ensembl chr15:30,547,015...30,616,429

G

ATPase plasma membrane Ca2+ transporting 2

mRNA:decreased expression:placenta (human)

NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474

G

ATPase plasma membrane Ca2+ transporting 3

mRNA:decreased expression:placenta (human)

NCBI chr X:121,355,217...121,405,245
Ensembl chr X:121,361,239...121,403,609

G

ATPase plasma membrane Ca2+ transporting 4

mRNA:decreased expression:placenta (human)

NCBI chr38:321,246...420,262
Ensembl chr38:366,656...416,952

G

BCL2 interacting protein 3 like

NCBI chr25:31,133,512...31,149,750
Ensembl chr25:31,136,168...31,148,905

G

chromosome 26 C12orf43 homolog

ClinVar Annotator: match by term: Gestational diabetes

PMID:9562352 PMID:25741868 PMID:35299962

NCBI chr26:16,826,481...16,835,832
Ensembl chr26:16,826,489...16,835,796

G

calbindin 1

mRNA:decreased expression:placenta (human)

NCBI chr29:35,551,836...35,572,985
Ensembl chr29:35,552,436...35,572,925

G

C-C motif chemokine ligand 2

NCBI chr 9:39,008,187...39,009,932

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145

G

CDK5 regulatory subunit associated protein 1 like 1

DNA:snp: :rs7756992,rs7754840(human)

NCBI chr35:19,138,904...19,802,545
Ensembl chr35:19,138,918...19,929,429

G

cytochrome P450 family 19 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353

G

cytochrome P450 family 24 subfamily A member 1

mRNA:increased expression:placenta (human)

NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216

G

cytochrome P450 family 27 subfamily B member 1

mRNA:increased expression:placenta (human)

NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911

G

cytochrome P450 family 2 subfamily R member 1

mRNA:decreased expression:placenta (human)

NCBI chr21:37,553,883...37,579,744
Ensembl chr21:37,552,732...37,606,725

G

decorin

NCBI chr15:31,833,492...31,887,699
Ensembl chr15:31,833,746...31,877,417

G

dynein axonemal heavy chain 8

mRNA:decreased expression:placenta (human)

NCBI chr12:7,617,638...7,972,842
Ensembl chr12:7,617,592...7,972,842

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

forkhead box M1

NCBI chr27:41,894,605...41,905,656
Ensembl chr27:41,894,672...41,905,663

G

glucose-6-phosphatase catalytic subunit 1

protein:increased activity:liver

NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642

G

glutamate decarboxylase 2

NCBI chr 2:7,365,708...7,450,893
Ensembl chr 2:7,365,283...7,450,893

G

glucokinase

ClinVar Annotator: match by term: Gestational diabetes

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

G

gamma-glutamyltransferase 1

protein:increased activity:blood

NCBI chr26:28,301,455...28,315,029

G

glutathione peroxidase 1

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

HNF1 homeobox A

ClinVar Annotator: match by term: Gestational diabetes

PMID:9562352 PMID:25741868 PMID:35299962

NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790

G

intercellular adhesion molecule 1

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

PMID:17990298 PMID:19343356

RGD:2313469 RGD:2313476

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

insulin like growth factor 1 receptor

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

interleukin 10

protein:decreased expression:serum

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 6

protein:increased expression:extracellular space (human)

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

inhibin subunit beta A

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

PMID:7852520 PMID:14663836

RGD:2313385 RGD:2313391

NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794

G

insulin

protein:increased expression:serum

NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122

G

insulin receptor

mRNA, protein:increased expression:placenta (human)

PMID:19179458 PMID:22241286

RGD:10046048 RGD:2307336

NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046

G

inositol 1,4,5-trisphosphate receptor type 1

mRNA:decreased expression:placenta (human)

NCBI chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198

G

inositol 1,4,5-trisphosphate receptor type 2

mRNA:decreased expression:placenta (human)

NCBI chr27:20,806,670...21,278,638
Ensembl chr27:20,805,842...21,350,083

G

inositol 1,4,5-trisphosphate receptor type 3

mRNA:decreased expression:placenta (human)

NCBI chr12:2,970,613...3,050,254
Ensembl chr12:2,805,187...3,048,938

G

leptin

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

PMID:19269197 PMID:20421132

NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395

G

leptin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636

G

mannose binding lectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:29,419,886...29,424,377

G

menin 1

NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

microRNA mir-133a

NCBI chr 7:66,217,486...66,217,572
Ensembl chr 7:66,217,486...66,217,572

G

8-oxoguanine DNA glycosylase

mRNA:increased expression:placenta (human)

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

G

plasminogen activator, tissue type

NCBI chr16:23,469,590...23,496,013

G

retinol binding protein 4

protein:increased expression:blood serum (human)

NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750

G

resistin

protein:increased expression:serum

NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624

G

ryanodine receptor 1

mRNA:decreased expression:placenta (human)

NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493

G

ryanodine receptor 2

mRNA:decreased expression:placenta (human)

NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875

G

ryanodine receptor 3

mRNA:decreased expression:placenta (human)

NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619

G

S100 calcium binding protein G

mRNA:decreased expression:placenta (human)

NCBI chr X:12,808,234...12,813,696
Ensembl chr X:12,808,718...12,812,972

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:25,369,183...25,388,126
Ensembl chr18:25,369,382...25,388,118

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:23956348 PMID:30738174 PMID:34175429

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

serine and arginine repetitive matrix 1

protein:increased glycation:placenta (human)

NCBI chr 2:75,018,637...75,053,908
Ensembl chr 2:75,019,339...75,049,398

G

transcription factor 7 like 2

susceptibility

DNA:SNP (human)

NCBI chr28:23,966,079...24,162,775
Ensembl chr28:23,966,073...24,163,737

G

transient receptor potential cation channel subfamily V member 5

mRNA:decreased expression:placenta (human)

NCBI chr16:6,647,070...6,678,080
Ensembl chr16:6,650,574...6,676,963

G

transient receptor potential cation channel subfamily V member 6

mRNA:decreased expression:placenta (human)

NCBI chr16:6,691,521...6,706,205
Ensembl chr16:6,691,254...6,706,207

G

urotensin 2

susceptibility

DNA:polymorphism

NCBI chr 5:61,503,268...61,508,146

G

vitamin D receptor

mRNA:decreased expression:placenta (human)

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ClinVar Annotator: match by term: GRACILE syndrome

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

NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516

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 chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606

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 chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378

G

apolipoprotein E

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

acid sensing ion channel subunit family member 5

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

NCBI chr15:53,343,244...53,376,328
Ensembl chr15:53,343,907...53,377,347

G

chromobox 3

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr14:39,510,694...39,520,796
Ensembl chr14:39,510,112...39,519,809

G

coiled-coil domain containing 68

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr 1:20,644,302...20,688,615
Ensembl chr 1:20,656,190...20,687,998

G

cyclin B3

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

NCBI chr X:42,951,030...43,041,616
Ensembl chr X:42,949,558...43,012,122

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

centromere protein H

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr 2:54,267,782...54,299,083
Ensembl chr 2:54,267,826...54,298,869

G

cAMP responsive element binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr14:41,397,016...41,891,273
Ensembl chr14:41,488,548...41,885,094

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 chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

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 chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198

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 chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043

G

methylenetetrahydrofolate reductase

no_association

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

PMID:19906129 PMID:22047507 PMID:22882325

RGD:10449404 RGD:10449411 RGD:10449415

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

PIF1 5'-to-3' DNA helicase

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr30:29,223,507...29,232,584
Ensembl chr30:29,157,119...29,232,043

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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

NCBI chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141

G

polo like kinase 1

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr 6:22,165,338...22,176,847
Ensembl chr 6:22,165,338...22,176,441

G

REX4 homolog, 3'-5' exonuclease

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr 9:49,827,584...49,834,872
Ensembl chr 9:49,828,067...49,836,632

G

synaptonemal complex protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr15:40,630,976...40,641,398
Ensembl chr15:40,631,279...40,704,365

G

thrombomodulin

susceptibility

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

NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649

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 chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295

G

alpha hemoglobin stabilizing protein

mRNA:decreased expression:placenta (human)

NCBI chr 6:16,744,879...16,745,826
Ensembl chr 6:16,744,879...16,745,745

G

CD40 ligand

protein:increased expression:blood platelet (human)

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

erb-b2 receptor tyrosine kinase 2

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

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 chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

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

ClinVar Annotator: match by term: Radin blood group

NCBI chr15:527,726...543,364
Ensembl chr15:526,067...543,638

G

Kell metallo-endopeptidase

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

PMID:7849312 PMID:8652402 PMID:25741868

NCBI chr16:6,396,724...6,645,221
Ensembl chr16:6,623,824...6,645,094

G

solute carrier family 14 member 1

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

NCBI chr 7:45,378,744...45,409,068
Ensembl chr 7:45,380,239...45,408,829

G

solute carrier family 29 member 1

ClinVar Annotator: match by term: Fetal Erythroblastosis

NCBI chr12:12,632,233...12,644,669
Ensembl chr12:12,634,194...12,644,667

Hoyeraal Hreidarsson Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA cross-link repair 1B

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328

NCBI chr17:51,711,267...51,716,806
Ensembl chr17:51,711,284...51,716,345

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 chr X:122,838,787...122,850,870
Ensembl chr X:122,838,645...122,850,884

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 chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956

G

regulator of telomere elongation helicase 1

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

NCBI chr24:47,219,977...47,248,791

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 chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:25741868 PMID:28492532

NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512

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 chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570

G

KH domain containing 3 like, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole

NCBI chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943

G

mutL homolog 1

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

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

mutS homolog 2

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

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole

PMID:24033266 PMID:25741868

NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

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 chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

Hydatidiform Mole, Recurrent, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1

PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More...

NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620

Hydatidiform Mole, Recurrent, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KH domain containing 3 like, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2

PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More...

NCBI chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943

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 chr10:23,533,749...23,606,875
Ensembl chr10:23,518,214...23,606,816

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 chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943

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 chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530

G

albumin

disease_progression

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

ankyrin repeat and sterile alpha motif domain containing 3

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

NCBI chr 6:36,678,916...36,711,096
Ensembl chr 6:36,669,590...36,710,807

G

AT-rich interaction domain 1A

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

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

chromosome 7 C1orf105 homolog

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

PMID:25741868 PMID:26036949

NCBI chr 7:26,490,012...26,561,542

G

collagen and calcium binding EGF domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894

G

cholinergic receptor nicotinic alpha 1 subunit

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

NCBI chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505

G

cathepsin A

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

NCBI chr24:33,183,090...33,189,248
Ensembl chr24:33,183,090...33,189,248

G

24-dehydrocholesterol reductase

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

NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921

G

dynein axonemal heavy chain 14

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

NCBI chr 7:39,310,580...39,648,017
Ensembl chr 7:39,310,585...39,641,151

G

dynein axonemal heavy chain 9

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

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

NCBI chr 5:35,730,394...36,060,154
Ensembl chr 5:35,730,394...36,058,945

G

EH domain binding protein 1 like 1

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

NCBI chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315

G

FAT atypical cadherin 4

ClinVar Annotator: match by term: Hydrops fetalis

PMID:25741868 PMID:28492532

NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045

G

Fc receptor like 4

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

NCBI chr 7:40,644,899...40,670,549
Ensembl chr 7:40,644,234...40,678,326

G

flap structure-specific endonuclease 1

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

NCBI chr18:54,680,627...54,686,502
Ensembl chr18:54,681,760...54,682,902

G

forkhead box C2

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

NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693

G

forkhead box P3

ClinVar Annotator: match by term: Hydrops fetalis

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

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

frizzled class receptor 6

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

PMID:25741868 PMID:26036949

NCBI chr13:4,732,541...4,771,294
Ensembl chr13:4,733,017...4,772,115

G

polypeptide N-acetylgalactosaminyltransferase 14

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

PMID:25741868 PMID:26036949

NCBI chr17:24,535,870...24,740,998
Ensembl chr17:24,535,897...24,740,889

G

glucuronidase beta

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

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

NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Fetal edema

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

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

Janus kinase 3

ClinVar Annotator: match by term: Fetal edema

PMID:25741868 PMID:28492532

NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805

G

kinesin family member 19

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

NCBI chr 9:6,052,837...6,079,409
Ensembl chr 9:6,052,840...6,079,295

G

KRAS proto-oncogene, GTPase

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

PMID:24549645 PMID:25741868

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

hemoglobin subunit alpha-like

ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis

PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More...

NCBI chr 6:40,328,053...40,329,002

G

pulmonary surfactant-associated protein A-like

protein:decreased expression:lung

NCBI chr 4:29,430,139...29,434,640

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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

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 chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611

G

molybdenum cofactor synthesis 3

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

NCBI chr24:37,268,781...37,271,581
Ensembl chr24:37,268,808...37,270,304

G

myosin binding protein H like

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

NCBI chr 6:42,523,529...42,537,012
Ensembl chr 6:42,523,769...42,535,728

G

myosin XVIIIA

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chr 9:43,226,170...43,325,026
Ensembl chr 9:43,227,187...43,322,545

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 chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740

G

myelin regulatory factor

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

NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085

G

nebulin

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

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

G

neuraminidase 1

ClinVar Annotator: match by term: Fetal edema

NCBI chr12:1,323,659...1,327,989
Ensembl chr12:1,323,877...1,328,520

G

nuclear receptor binding SET domain protein 1

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

NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999

G

piezo type mechanosensitive ion channel component 1

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 chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375

G

phosphatidylinositol glycan anchor biosynthesis class C

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

PMID:25741868 PMID:26036949

NCBI chr 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417

G

pre-mRNA processing factor 19

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

NCBI chr18:55,389,902...55,400,241
Ensembl chr18:55,389,897...55,400,240

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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Hydrops fetalis

PMID:10449659 PMID:25741868 PMID:31680349

NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673

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 chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173

G

Rho associated coiled-coil containing protein kinase 2

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

NCBI chr17:7,931,786...8,012,484
Ensembl chr17:7,934,739...8,178,707

G

ryanodine receptor 1

ClinVar Annotator: match by term: Hydrops fetalis

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

NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493

G

ryanodine receptor 3

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619

G

serpin family A member 11

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

NCBI chr 8:63,436,710...63,453,354
Ensembl chr 8:63,323,933...63,453,708

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 chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545

G

SUZ12 polycomb repressive complex 2 subunit

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

NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645

G

SVOP like

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

NCBI chr16:9,949,845...10,023,997
Ensembl chr16:9,963,536...10,024,502

G

thrombospondin type 1 domain containing 1

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

PMID:25741868 PMID:26036949 PMID:28749478

NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560

G

ubinuclein 1

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

NCBI chr 6:36,542,266...36,581,789
Ensembl chr 6:36,544,405...36,581,797

G

vacuolar protein sorting 13 homolog D

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

NCBI chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529

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 chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197

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 chr20:44,633,131...44,636,842
Ensembl chr20:44,634,588...44,636,821

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 chr18:46,860,636...46,861,697

IMAGEI Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA polymerase epsilon, catalytic subunit

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 chr26:433,990...481,018
Ensembl chr26:433,879...479,917

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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

G

ATPase phospholipid transporting 8B1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904

G

histone deacetylase 3

severity

NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682

G

interleukin 18

severity

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933

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 chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904

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 chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974

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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571

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 chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724

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 chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126

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 chr14:54,063,832...54,153,346
Ensembl chr14:54,063,769...54,166,197

Lymphatic Malformation 13

term browser

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Object Name

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Evidence

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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 chr25:197,294...223,804
Ensembl chr25:201,301...223,560

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 chr36:29,342,869...29,442,977
Ensembl chr36:29,345,236...29,442,732

mastitis

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

chemokine (C-C motif) ligand 4

associated with HIV Infections

NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209

G

C-X-C motif chemokine receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247

G

toll like receptor 4

mRNA,protein:increased expression:mammary gland:

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

toll like receptor 9

resistance

mRNA:increased expression:mammary gland (rat)

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

Maternal Phenylketonuria

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phenylalanine hydroxylase

NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837

G

phosphoserine phosphatase

NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089

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 chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

angiotensin II receptor type 2

treatment

NCBI chr X:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853

G

activating transcription factor 2

NCBI chr36:19,032,376...19,103,382
Ensembl chr36:19,010,717...19,103,292

G

secretoglobin family 1A member 1

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

NCBI chr18:54,187,487...54,191,493
Ensembl chr18:54,187,487...54,191,482

Megaduodenum

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

actin gamma 2, smooth muscle

ClinVar Annotator: match by term: Megacystis

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

NCBI chr17:49,144,184...49,168,872
Ensembl chr17:49,104,546...49,168,782

G

forkhead box F1

ClinVar Annotator: match by term: Fetal megacystis

NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935

Microcephalic Osteodysplastic Primordial Dwarfism

term browser

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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 chr31:39,576,344...39,677,118
Ensembl chr31:39,578,039...39,676,820

microcephalic osteodysplastic primordial dwarfism type I

term browser

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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 chr19:28,563,189...28,830,503
Ensembl chr19:28,595,040...28,827,645

G

myosin heavy chain 11

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

PMID:25741868 PMID:28492532

NCBI chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184

G

myosin heavy chain 7

ClinVar Annotator: match by term: Brachymelic primordial dwarfism

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

NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725

microcephalic osteodysplastic primordial dwarfism type II

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

disco interacting protein 2 homolog A

OMIM:210720

NCBI chr31:39,695,620...39,778,527
Ensembl chr31:39,686,465...39,777,484

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 chr31:39,576,344...39,677,118
Ensembl chr31:39,578,039...39,676,820

Microcephalic Osteodysplastic Primordial Dwarfism, Type III

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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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 chr19:28,563,189...28,830,503
Ensembl chr19:28,595,040...28,827,645

G

myosin heavy chain 11

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

PMID:25741868 PMID:28492532

NCBI chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184

G

nudE neurodevelopment protein 1

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

PMID:25741868 PMID:28492532

NCBI chr 6:28,143,244...28,186,069
Ensembl chr 6:28,143,244...28,186,051

mild pre-eclampsia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

glutathione peroxidase 3

protein:increased expression:plasma

NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010

Multiple Pterygium Syndrome, Lethal Type

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

alkaline phosphatase, intestinal

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr25:44,107,418...44,110,947

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 chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505

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 chr25:44,166,089...44,175,047
Ensembl chr25:44,165,819...44,174,216

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 chr25:44,178,149...44,183,623
Ensembl chr25:44,178,181...44,183,626

G

DIS3 like 3'-5' exoribonuclease 2

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr25:43,754,382...44,099,497
Ensembl chr25:43,754,484...44,095,381

G

endothelin converting enzyme like 1

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr25:44,120,200...44,128,049
Ensembl chr25:44,120,196...44,128,046

G

tigger transposable element-derived protein 1-like

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

PMID:25741868 PMID:28492532

NCBI chr 1:99,378,328...99,401,217

G

serine protease 56

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr25:44,157,247...44,165,625
Ensembl chr25:44,160,615...44,165,625

Neu-Laxova syndrome 1

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

phosphoglycerate dehydrogenase

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

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

NCBI chr17:56,806,912...56,833,765

G

phosphoserine aminotransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162

Nuchal Bleb, Familial

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Fetal cystic hygroma

PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922