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 (805) Mouse (813) Human (10948) Chinchilla (700) Bonobo (753) Dog (779) Squirrel (707) Pig (768) Green Monkey (738) Naked Mole-rat (694) All
Genes (753)

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 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

fatty acid amide hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:45,697,173...45,716,629
Ensembl chr 1:47,053,436...47,072,283

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

C-type lectin domain family 4 member M

susceptibility

associated with hepatitis B; DNA::

NCBI chr19:7,062,961...7,069,381

G

nuclear receptor coactivator 2

mRNA:decreased expression:uterus (rat)

NCBI chr 8:66,632,139...66,929,526
Ensembl chr 8:68,293,018...68,400,479

G

NFKB inhibitor alpha

susceptibility

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

NCBI chr14:16,155,331...16,158,588

G

serpin family E member 1

DNA:polymorphism:promoter:rs1799768 (human)

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

Bowen-Conradi syndrome

term browser

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Object Name

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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 chr12:7,102,619...7,108,594
Ensembl chr12:7,018,291...7,023,807

Cardiovascular Pregnancy Complications

term browser

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Object Name

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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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,415,922...23,420,767

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

central conducting lymphatic anomaly

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

EPH receptor B4

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

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

NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022

G

MyoD family inhibitor domain containing

ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY

PMID:25741868 PMID:35235341

NCBI chr 7:106,886,481...106,983,546
Ensembl chr 7:119,584,817...119,678,614

G

solute carrier family 12 member 9

ClinVar Annotator: match by term: Lymphatic malformation 7

PMID:25741868 PMID:28492532

NCBI chr 7:92,877,655...92,891,957
Ensembl chr 7:106,288,530...106,294,968
Ensembl chr 7:106,288,530...106,294,968

chorioamnionitis

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

advanced glycosylation end-product specific receptor

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

Fas cell surface death receptor

protein:increased expression:villous trophoblast

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 6

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

PMID:15547537 PMID:25011638 PMID:25687566

RGD:12791291 RGD:12792243 RGD:5128667

NCBI chr 7:23,415,922...23,420,767

G

lymphotoxin alpha

severity

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

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

mannose binding lectin 2

susceptibility

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

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

matrix metallopeptidase 9

severity

protein:increased expression:respiratory system fluid/secretion

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

transforming growth factor beta 1

severity

protein:increased expression:amniotic fluid

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

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 chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

triggering receptor expressed on myeloid cells 1

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

NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091

choriocarcinoma

term browser

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G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916

G

insulin like growth factor 2

disease_progression

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

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

insulin receptor

disease_progression

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

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

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platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

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TIMP metallopeptidase inhibitor 3

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

NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964

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 chr17:25,843,447...25,869,874

dehydrated hereditary stomatocytosis 1

term browser

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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 chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900

G

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

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

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

NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068

Diabetic Embryopathy

term browser

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PubMed Reference(s)

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G

Fas associated via death domain

NCBI chr11:65,300,889...65,305,020

eclampsia

term browser

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PubMed Reference(s)

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G

interleukin 6

treatment

NCBI chr 7:23,415,922...23,420,767

ectopic pregnancy

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PubMed Reference(s)

RGD Reference(s)

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cysteine rich secretory protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,297,914...49,314,978
Ensembl chr 6:50,559,742...50,568,518

Embryo Loss

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

C-X-C motif chemokine ligand 12

associated with Diabetes Mellitus, Insulin-Dependent

NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231

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forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272

G

glutathione peroxidase 4

CTD Direct Evidence: marker/mechanism

NCBI chr19:20,904...23,828

G

G protein-coupled receptor kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066

G

insulin like growth factor 2

DNA:methylation: :

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

interleukin 18

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

leucine carboxyl methyltransferase 1

CTD Direct Evidence: marker/mechanism

Ensembl chr16:25,351,814...25,418,285

G

LIF interleukin 6 family cytokine

CTD Direct Evidence: marker/mechanism

NCBI chr22:11,276,576...11,282,972
Ensembl chr22:29,078,862...29,095,608

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mitogen-activated protein kinase kinase kinase 7

NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468

G

NLR family pyrin domain containing 5

ClinVar Annotator: match by term: Preimplantation embryonic lethality

NCBI chr19:53,021,034...53,083,590
Ensembl chr19:61,818,345...61,879,538

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poly(ADP-ribose) glycohydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr10:44,290,391...44,420,184

G

spalt like transcription factor 1

NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819

G

spalt like transcription factor 4

NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589

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solute carrier family 31 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:84,319,304...84,362,288
Ensembl chr 9:112,691,503...112,734,352

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

NCBI chr 6:147,138,553...147,231,559
Ensembl chr 6:151,868,513...151,936,841

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TNF receptor superfamily member 1A

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

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ubiquitin conjugating enzyme E2 N

CTD Direct Evidence: marker/mechanism

NCBI chr12:90,951,446...90,984,075

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 chr14:61,057,348...61,505,022
Ensembl chr14:80,257,872...80,679,447

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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 chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

fetal akinesia deformation sequence syndrome

term browser

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Object Name

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PubMed 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 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469

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 4:3,613,018...3,653,764
Ensembl chr 4:3,605,185...3,628,570

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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 chr 9:81,814,766...81,947,341
Ensembl chr 9:109,980,748...110,107,480

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proteoglycan 4

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

PMID:25741868 PMID:31680123

NCBI chr 1:161,824,271...161,842,031

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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 chr11:47,387,324...47,398,579
Ensembl chr11:47,940,530...47,951,667

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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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327

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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 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612

fetal akinesia deformation sequence syndrome 1

term browser

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Evidence

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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 chr11:47,185,611...47,195,174
Ensembl chr11:47,738,845...47,748,450

G

actin alpha 1, skeletal muscle

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

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

NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469

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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 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012

G

adenylosuccinate synthase 1

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

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

Ensembl chr14:105,169,769...105,190,333

G

aldehyde dehydrogenase 5 family member A1

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

PMID:25741868 PMID:31680123

NCBI chr 6:24,332,093...24,370,764
Ensembl chr 6:24,665,026...24,705,151

G

ARF GTPase activating protein 2

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

PMID:17686188 PMID:28492532

NCBI chr11:47,109,678...47,122,015
Ensembl chr11:47,663,397...47,676,063

G

N-acylsphingosine amidohydrolase 1

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

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

NCBI chr 8:17,272,632...17,300,902

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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 chr10:68,646,113...68,740,097
Ensembl chr10:71,082,355...71,207,096

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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 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810

G

ATPase plasma membrane Ca2+ transporting 3

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

PMID:25741868 PMID:31680123

NCBI chr X:143,068,171...143,133,479
Ensembl chr X:152,955,109...153,019,445

G

apoptosis and caspase activation inhibitor

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

PMID:25741868 PMID:31680123

NCBI chr15:12,379,221...12,574,147

G

bridge-like lipid transfer protein family member 1

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

PMID:25741868 PMID:31680123

NCBI chr 4:114,346,807...114,558,993
Ensembl chr 4:125,482,532...125,694,099

G

cholinergic receptor nicotinic delta subunit

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

PMID:25741868 PMID:31680123

NCBI chr2B:119,757,722...119,768,254
Ensembl chr2B:238,676,495...238,686,987

G

contactin associated protein 1

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

PMID:25741868 PMID:31680123

NCBI chr17:14,618,294...14,635,193
Ensembl chr17:14,842,577...14,858,896

G

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

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

PMID:17686188 PMID:28492532

NCBI chr11:46,886,690...47,107,590
Ensembl chr11:47,442,296...47,663,348

G

damage specific DNA binding protein 2

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

PMID:17686188 PMID:28492532

NCBI chr11:47,161,345...47,185,526
Ensembl chr11:47,714,723...47,738,761

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 4:3,613,018...3,653,764
Ensembl chr 4:3,605,185...3,628,570

G

DEAQ-box RNA dependent ATPase 1

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

PMID:25741868 PMID:31680123

NCBI chr2A:74,584,797...74,592,872
Ensembl chr2A:76,091,342...76,099,110

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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 chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475

G

glutamyl-tRNA synthetase 2, mitochondrial

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr16:14,552,664...14,588,022
Ensembl chr16:23,774,123...23,809,873

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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 chr 9:37,611,173...37,634,869
Ensembl chr 9:38,552,659...38,558,078

G

fibulin 1

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

PMID:25741868 PMID:31680123

NCBI chr22:26,390,379...26,488,737
Ensembl chr22:44,582,843...44,666,011

G

fibrillin 2

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

NCBI chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711

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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 chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546

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GCN1 activator of EIF2AK4

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

PMID:25741868 PMID:31680123

NCBI chr12:117,702,791...117,769,894
Ensembl chr12:121,078,302...121,140,829

G

GDNF family receptor alpha 4

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

PMID:25741868 PMID:31680123

NCBI chr20:3,740,538...3,745,601

G

gliomedin

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

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

NCBI chr15:30,285,743...30,352,403
Ensembl chr15:48,619,452...48,685,616

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 4:3,106,064...3,181,270
Ensembl chr 4:3,008,126...3,083,094

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 4:3,590,908...3,599,781
Ensembl chr 4:3,575,819...3,583,436

G

huntingtin

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

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

NCBI chr 4:3,215,081...3,388,587
Ensembl chr 4:3,128,718...3,283,730

G

IQ motif and Sec7 domain ArfGEF 3

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

PMID:25741868 PMID:31680123

NCBI chr12:128,587...236,302
Ensembl chr12:105,804...209,812

G

leucine rich repeat LGI family member 4

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

PMID:25741868 PMID:31680123

NCBI chr19:32,070,563...32,082,273
Ensembl chr19:40,808,847...40,827,024

G

LDL receptor related protein 4

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

PMID:17686188 PMID:28492532

NCBI chr11:46,808,090...46,868,649
Ensembl chr11:47,366,321...47,411,105

G

MAP kinase activating death domain

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

PMID:17686188 PMID:28492532

NCBI chr11:47,216,006...47,276,422
Ensembl chr11:47,773,733...47,828,360

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 chr 1:88,873,080...88,914,647

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 4:3,073,071...3,077,765
Ensembl chr 4:2,975,493...2,979,791

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 4:3,393,646...3,408,820
Ensembl chr 4:3,290,354...3,305,139

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 chr 9:81,814,766...81,947,341
Ensembl chr 9:109,980,748...110,107,480

G

myosin binding protein C3

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

PMID:17686188 PMID:28492532

NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849

G

alpha-N-acetylgalactosaminidase

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

PMID:25741868 PMID:31680123

NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431

G

sodium leak channel, non-selective

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

PMID:25741868 PMID:27214504 PMID:31680123

NCBI chr13:82,215,094...82,573,501
Ensembl chr13:101,354,054...101,693,223

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 chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

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 4:3,080,444...3,105,999
Ensembl chr 4:2,982,906...3,007,548

G

nuclear receptor subfamily 1 group H member 3

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

PMID:17686188 PMID:28492532

NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672

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 chr11:47,122,620...47,131,559
Ensembl chr11:47,676,432...47,684,485

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 chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928

G

proteoglycan 4

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:31680123

NCBI chr 1:161,824,271...161,842,031

G

prickle planar cell polarity protein 1

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

PMID:25741868 PMID:31680123

NCBI chr12:46,127,673...46,262,333
Ensembl chr12:47,100,393...47,126,102

G

proteasome 26S subunit, ATPase 3

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

PMID:17686188 PMID:28492532

NCBI chr11:47,366,986...47,374,677
Ensembl chr11:47,920,295...47,927,654

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 chr11:47,387,324...47,398,579
Ensembl chr11:47,940,530...47,951,667

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 4:3,439,030...3,589,026
Ensembl chr 4:3,444,570...3,573,712

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 9:62,782,183...63,005,626
Ensembl chr 9:90,851,983...90,965,084

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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327

G

ryanodine receptor 3

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

PMID:25741868 PMID:31680123

NCBI chr15:11,816,430...12,379,101
Ensembl chr15:30,817,428...31,214,494

G

sodium voltage-gated channel alpha subunit 4

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

PMID:25741868 PMID:31680123

NCBI chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043

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 chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

sodium voltage-gated channel alpha subunit 8

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

PMID:25741868 PMID:31680123

NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357

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 chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453

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 4:2,936,051...2,982,062
Ensembl chr 4:2,857,249...2,882,263

G

solute carrier family 39 member 13

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

PMID:17686188 PMID:28492532

NCBI chr11:47,356,465...47,364,710
Ensembl chr11:47,910,551...47,918,014

G

sperm associated antigen 16

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

PMID:25741868 PMID:31680123

NCBI chr2B:100,539,441...101,666,204
Ensembl chr2B:219,014,837...220,139,314

G

Spi-1 proto-oncogene

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

PMID:17686188 PMID:28492532

NCBI chr11:47,301,245...47,326,891
Ensembl chr11:47,853,991...47,880,259

G

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

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

NCBI chr 9:81,521,495...81,727,869
Ensembl chr 9:109,686,826...109,892,291

G

thymopoietin

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

PMID:25741868 PMID:31680123

NCBI chr12:96,100,509...96,135,364
Ensembl chr12:99,514,803...99,546,535

G

thioredoxin

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

NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311

G

thioredoxin domain containing 8

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

NCBI chr 9:81,458,398...81,492,855
Ensembl chr 9:109,624,698...109,658,849

G

unc-50 inner nuclear membrane RNA binding protein

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

PMID:25741868 PMID:31680123

NCBI chr2A:100,693,433...100,703,371
Ensembl chr2A:99,516,857...99,526,785

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612

G

zinc finger E-box binding homeobox 2

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

PMID:25741868 PMID:31680123

NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500

G

zinc finger protein 875

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

PMID:25741868 PMID:31680123

Ensembl chr19:42,472,321...42,507,499

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 chr11:47,387,324...47,398,579
Ensembl chr11:47,940,530...47,951,667

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 1:61,713,217...61,946,371
Ensembl chr 1:63,529,227...63,740,970

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 4:3,613,018...3,653,764
Ensembl chr 4:3,605,185...3,628,570

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 chr17:5,434,448...5,468,004
Ensembl chr17:5,426,379...5,460,375

G

rabaptin, RAB GTPase binding effector protein 1

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

NCBI chr17:5,330,477...5,434,250
Ensembl chr17:5,344,966...5,426,160

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 chr10:56,560,589...57,269,952
Ensembl chr10:58,790,696...59,602,954

G

apolipoprotein E

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

BPI fold containing family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:29,524,619...29,532,996
Ensembl chr20:30,642,191...30,649,515

G

complement C3

protein:increased activity:blood

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

complement C5

protein:increased activity:blood

NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856

G

catalase

CTD Direct Evidence: therapeutic

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

corticotropin releasing hormone receptor 1

sexual_dimorphism

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

NCBI chr17:11,261,435...11,313,630
Ensembl chr17:11,650,057...11,701,208

G

iodothyronine deiodinase 3

treatment

NCBI chr14:82,188,126...82,190,220

G

DNA methyltransferase 1

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

NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972

G

DNA methyltransferase 3 beta

mRNA:increased expression:pituitary gland (rat)

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

G

dopamine receptor D2

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

PMID:26509893 PMID:28710248

RGD:11344152 RGD:401960105

NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935

G

euchromatic histone lysine methyltransferase 2

mRNA:increased expression:pituitary gland (rat)

NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844

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 chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357

G

gamma-aminobutyric acid type A receptor subunit gamma2

mRNA:increased expression:posterior hypothalamic region (rat)

NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

PMID:22037411 PMID:23763370

RGD:13210751 RGD:13432044

NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799

G

histone deacetylase 2

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

NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004

G

histone deacetylase 4

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

NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054

G

hydroxysteroid 11-beta dehydrogenase 2

protein:increased expression:placenta (rat)

NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417

G

insulin like growth factor 1

mRNA:decreased expression:cerebellum (rat)

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor 1 receptor

protein:decreased activity:cerebellum (rat)

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

methionine adenosyltransferase 2A

mRNA:decreased expression:brain (rat)

NCBI chr2A:85,589,301...85,595,437
Ensembl chr2A:87,141,857...87,148,322

G

methyl-CpG binding protein 2

treatment

mRNA:increased expression:pituitary gland (rat)

PMID:23763370 PMID:26509893

RGD:11344152 RGD:13432044

NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854

G

5-methyltetrahydrofolate-homocysteine methyltransferase

mRNA:decreased expression:brain (rat)

NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946

G

nitric oxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005

G

nuclear receptor subfamily 3 group C member 2

sexual_dimorphism

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

NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298

G

opioid receptor kappa 1

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

NCBI chr 8:49,650,844...49,677,494
Ensembl chr 8:47,029,313...47,056,577

G

opioid related nociceptin receptor 1

mRNA:decreased expression:ventral tegmental area

Ensembl chr20:62,004,176...62,017,866

G

prodynorphin

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

NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452

G

period circadian regulator 2

treatment

NCBI chr2B:125,477,021...125,521,577
Ensembl chr2B:244,328,122...244,371,040

G

prepronociceptin

mRNA:increased expression:nucleus accumbens

NCBI chr 8:27,596,413...27,622,844
Ensembl chr 8:24,796,638...24,822,758

G

proopiomelanocortin

treatment

NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706

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 chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

G

phosphatase and tensin homolog

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

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

Ras protein specific guanine nucleotide releasing factor 1

treatment

NCBI chr15:57,933,152...58,063,824
Ensembl chr15:76,891,556...77,022,534

G

ribosomal protein S6 kinase A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,792,428...25,837,950
Ensembl chr 1:26,856,057...26,900,532

G

SET domain containing 7, histone lysine methyltransferase

mRNA:decreased expression:pituitary gland (rat)

NCBI chr 4:131,869,999...131,921,342
Ensembl chr 4:143,167,190...143,227,732

G

solute carrier family 25 member 12

treatment

NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894

G

solute carrier family 6 member 4

mRNA:decreased expression:brain (rat)

NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882

G

toll like receptor 4

ameliorates

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

ubiquitin protein ligase E3A

treatment

NCBI chr15:4,494,029...4,595,415
Ensembl chr15:22,747,075...22,825,459

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 chr 3:49,282,009...49,339,887

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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

alpha hemoglobin stabilizing protein

mRNA, protein:decreased expression:placenta (human)

NCBI chr16:23,436,746...23,438,184
Ensembl chr16:31,897,868...31,899,143

G

ATR serine/threonine kinase

NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261

G

coagulation factor V

no_association

NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915

G

grainyhead like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:23,519,911...23,558,105
Ensembl chr 1:24,502,294...24,547,152

G

heat shock protein family D (Hsp60) member 1

NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959

G

lysophosphatidic acid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:82,013,960...82,179,227
Ensembl chr 9:110,179,600...110,279,038

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

G

oxytocin/neurophysin I prepropeptide

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,157,246...3,159,013

G

platelet derived growth factor receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

G

retinol dehydrogenase 10

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,833,320...69,863,536
Ensembl chr 8:71,481,089...71,510,689

G

tissue factor pathway inhibitor

associated with Hemorrhage;

NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384

G

TNF receptor superfamily member 1B

associated with Endotoxemia; human protein in rat model

NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646

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 chr10:96,794,228...96,835,449
Ensembl chr10:100,280,490...100,316,918

G

nitric oxide synthase 2

associated with Diabetes Mellitus, Experimental

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

protein kinase C beta

associated with Diabetes Mellitus, Experimental;protein:increased expression

NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203

G

serine protease 8

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,833,127...23,837,466
Ensembl chr16:31,500,225...31,504,623

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 chr10:96,794,228...96,835,449
Ensembl chr10:100,280,490...100,316,918

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 chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

G

angiotensin I converting enzyme

mRNA:increased expression:kidney (rat)

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080

G

adiponectin, C1Q and collagen domain containing

treatment

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

adiponectin receptor 1

treatment

NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782

G

adiponectin receptor 2

treatment

NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251

G

angiotensinogen

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

PMID:17537837 PMID:20530295 PMID:26270574

RGD:11538508 RGD:13432363

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 1

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

angiotensin II receptor type 2

NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685

G

aldehyde dehydrogenase 18 family member A1

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

NCBI chr10:92,216,639...92,267,525
Ensembl chr10:95,723,099...95,774,095

G

anaphase promoting complex subunit 2

protein:increased expression:serum (human)

NCBI chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652

G

apolipoprotein E

mRNA:increased expression:adrenal gland (rat)

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

apolipoprotein H

NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483

G

arginase 1

RNA:increased expression:thoracic aorta:

NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162

G

ATP synthase F1 subunit alpha

protein:increased expression:retroperitoneal fat pad (rat)

NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326

G

ATP synthase F1 subunit beta

protein:decreased expression:liver (rat)

NCBI chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

BCL2 apoptosis regulator

treatment

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

bone morphogenetic protein 4

NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752

G

calcium voltage-gated channel subunit alpha1 C

protein:decreased expression:pancreas (rat)

NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826

G

calcium voltage-gated channel subunit alpha1 D

protein:decreased expression:pancreas (rat)

NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804

G

caspase 3

treatment

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

collagen type II alpha 1 chain

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

NCBI chr12:40,726,137...40,757,690

G

catechol-O-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

G

carbamoyl-phosphate synthase 1

NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728

G

cystathionine gamma-lyase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666

G

cytochrome P450 family 11 subfamily A member 1

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

NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164

G

cytochrome P450 family 11 subfamily B member 1

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

NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654

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 chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

G

DEAD-box helicase 23

ClinVar Annotator: match by term: Intrauterine growth retardation

PMID:25741868 PMID:34050707

NCBI chr12:39,896,354...39,917,195
Ensembl chr12:40,774,975...40,796,466

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:81,348,380...81,356,607
Ensembl chr14:100,654,965...100,668,019

G

DNA methyltransferase 1

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

PMID:12869365 PMID:16380407 PMID:24717552

RGD:9588242 RGD:9588619 RGD:9590296

NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972

G

DNA methyltransferase 3 beta

mRNA:increased expression:adrenal gland:

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

G

dual specificity phosphatase 1

NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960

G

dual specificity phosphatase 5

NCBI chr10:107,091,147...107,105,971

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 chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194

G

ETS transcription factor ELK1

mRNA:decreased expression:placenta

NCBI chr X:40,071,433...40,086,518
Ensembl chr X:47,967,492...47,982,579

G

estrogen related receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 1:192,074,260...192,667,610
Ensembl chr 1:196,929,197...197,153,195

G

Fas cell surface death receptor

susceptibility

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

PMID:15695771 PMID:16169656

RGD:12903973 RGD:12904025

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fas ligand

severity

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

PMID:16169656 PMID:23582102

RGD:12903972 RGD:12904025

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

G

FTO alpha-ketoglutarate dependent dioxygenase

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

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

glucose-6-phosphatase catalytic subunit 1

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

PMID:15448092 PMID:23744881

RGD:14695550 RGD:2315963

NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674

G

glial cell derived neurotrophic factor

mRNA, protein:decreased expression:kidney

NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362

G

ghrelin and obestatin prepropeptide

disease_progression

NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723

G

growth hormone secretagogue receptor

disease_progression

NCBI chr 3:169,448,217...169,458,602
Ensembl chr 3:177,633,039...177,638,202

G

glutamate dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,498,338...83,540,730

G

glutamate ionotropic receptor AMPA type subunit 1

protein:decreased expression:cerebral cortical neuron (rat)

NCBI chr 5:148,879,996...149,206,914
Ensembl chr 5:154,879,080...155,204,660

G

glutamate ionotropic receptor NMDA type subunit 2A

protein:decreased expression:cerebral cortical neuron (rat)

NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion:: (human)

PMID:19147266 PMID:22310945

RGD:10450795 RGD:12792219

Ensembl chr 1:127,979,238...128,010,411

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

mRNA:decreased expression

NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068

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 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410

G

histone deacetylase 2

mRNA:increased expression:adrenal gland:

NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004

G

hepatocyte nuclear factor 4 alpha

DNA:altered methylation:prompter:

NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536

G

hydroxysteroid 11-beta dehydrogenase 2

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

NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417

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 chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor 1 receptor

onset

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

PMID:12536576 PMID:14657428 PMID:24239160

RGD:12904720 RGD:12904724 RGD:1624299

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

insulin like growth factor 2

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

PMID:1408464 PMID:12087403 PMID:16040806

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

insulin like growth factor 2 receptor

mRNA:increased expresssion:fetus:

NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762

G

insulin like growth factor binding protein 3

treatment

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

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

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

NCBI chr 7:46,564,234...46,573,145

G

interleukin 1 alpha

mRNA:increased expression:placenta

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

insulin receptor substrate 1

mRNA,protein:decreased expression:growth plate:

NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967

G

insulin receptor substrate 2

NCBI chr13:90,886,095...90,917,724

G

leptin

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

MDM2 proto-oncogene

mRNA:decreased expression:cerebrum (rat)

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

methyl-CpG binding protein 2

mRNA,protein:decreased expression:hippocampus:

NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854

G

matrix metallopeptidase 2

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

PMID:17367869 PMID:28157488

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

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

PMID:18771981 PMID:22378735 PMID:25118499

RGD:12910955 RGD:12910958 RGD:12914148

NCBI chr14:44,969,573...45,041,296
Ensembl chr14:63,223,484...63,293,881

G

mucin 1, cell surface associated

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

mucin 2, oligomeric mucus/gel-forming

NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741

G

mucin 4, cell surface associated

NCBI chr 3:193,050,895...193,114,931

G

NFE2 like bZIP transcription factor 2

treatment

protein:decreased expression:placenta

PMID:23910525 PMID:25171874

RGD:10412716 RGD:26884462

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

G

nitric oxide synthase 1

associated with hyperinsulinemia; protein:decreased expression:placenta

NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005

G

nitric oxide synthase 2

associated with hyperinsulinemia; protein:increased expression:placenta

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nitric oxide synthase 3

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

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

RGD:13792602 RGD:5132592

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

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 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269

G

origin recognition complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653

G

ornithine transcarbamylase

mRNA:altered expression:liver (rat)

NCBI chr X:30,796,828...30,868,144
Ensembl chr X:38,505,232...38,575,819

G

phosphoenolpyruvate carboxykinase 1

mRNA:decreased expression:liver:

NCBI chr20:53,901,738...53,907,090
Ensembl chr20:55,179,429...55,184,920

G

platelet derived growth factor subunit A

mRNA:increased expression:placenta

NCBI chr 7:648,722...672,023

G

platelet derived growth factor subunit B

mRNA:increased expression:placenta

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

pancreatic and duodenal homeobox 1

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

PMID:12606515 PMID:18464933

RGD:2311214 RGD:2311220

NCBI chr13:9,199,572...9,206,202

G

proopiomelanocortin

mRNA, protein:decreased expression:hypothalamus

NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706

G

peroxisome proliferator activated receptor gamma

mRNA:decreased expression:lung (rat)

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

PPARG coactivator 1 alpha

mRNA, protein:increased expression:liver (rat)

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

peroxiredoxin 6

protein:decreased expression:placenta

NCBI chr 1:148,988,836...149,000,345

G

prostaglandin E receptor 3

mRNA, protein:increased expression:placenta (rat)

NCBI chr 1:70,076,610...70,271,475
Ensembl chr 1:72,059,441...72,254,063

G

prostaglandin-endoperoxide synthase 2

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

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

protein tyrosine phosphatase non-receptor type 11

treatment

with postnatal growth restriction

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

retinol binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:136,554,315...136,576,682
Ensembl chr 3:144,153,937...144,176,209

G

renin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393

G

serpin family E member 1

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

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

SIN3 transcription regulator family member A

NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506

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 chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

G

solute carrier family 2 member 2

mRNA, protein:decreased expression:liver

NCBI chr 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722

G

solute carrier family 2 member 3

protein:increased expression:placenta

NCBI chr12:8,045,058...8,062,116
Ensembl chr12:8,408,457...8,423,466

G

solute carrier family 38 member 2

mRNA, protein:decreased expression:placenta

NCBI chr12:42,359,637...42,374,251
Ensembl chr12:43,230,007...43,244,343

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:18,029,831...18,037,526

G

sterol regulatory element binding transcription factor 1

NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045

G

steroidogenic acute regulatory protein

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

NCBI chr 8:37,446,334...37,454,102
Ensembl chr 8:34,623,201...34,629,544

G

trefoil factor 3

NCBI chr21:28,627,191...28,631,341
Ensembl chr21:41,948,696...41,952,268

G

unc-13 homolog A

NCBI chr19:17,088,654...17,175,559
Ensembl chr19:18,068,006...18,150,642

G

vitamin D receptor

mRNA,protein:decreased expression:placenta:

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Intrauterine growth restriction

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455

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 chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009

G

corticotropin releasing hormone receptor 1

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

NCBI chr17:11,261,435...11,313,630
Ensembl chr17:11,650,057...11,701,208

G

corticotropin releasing hormone receptor 2

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

NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220

G

early growth response 1

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

matrix metallopeptidase 1

protein:altered expression:heart (rat)

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

G

matrix metallopeptidase 13

protein:increased expression:heart (rat)

NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679

G

nitric oxide synthase 1

NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005

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 chr 7:23,415,922...23,420,767

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 chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536

G

insulin like growth factor 1

protein:increased expression:serum:

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor binding protein 3

protein:increased expression:serum:

NCBI chr 7:46,564,234...46,573,145

G

lipase C, hepatic type

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

NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005

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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

collagen type I alpha 2 chain

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

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

G

monoamine oxidase A

CTD Direct Evidence: marker/mechanism

NCBI chr X:36,106,680...36,197,907
Ensembl chr X:43,931,044...44,022,199

G

NPHS1 adhesion molecule, nephrin

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

NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471

G

NPHS2 stomatin family member, podocin

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

NCBI chr 1:155,038,753...155,064,332

G

zinc finger E-box binding homeobox 2

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

NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500

Fetal Resorption

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein H

NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483

G

prolactin

CTD Direct Evidence: therapeutic

NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

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 chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

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 chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

alpha 2-HS glycoprotein

protein:increased expression:serum

NCBI chr 3:183,644,223...183,652,620
Ensembl chr 3:192,110,770...192,119,915

G

angiopoietin like 6

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

NCBI chr19:9,641,164...9,651,909

G

apolipoprotein D

NCBI chr 3:192,852,887...192,868,233
Ensembl chr 3:203,152,476...203,168,060

G

androgen receptor

CTD Direct Evidence: marker/mechanism

NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357

G

ATPase plasma membrane Ca2+ transporting 1

mRNA:decreased expression:placenta (human)

NCBI chr12:87,107,900...87,229,514
Ensembl chr12:90,427,560...90,495,320

G

ATPase plasma membrane Ca2+ transporting 2

mRNA:decreased expression:placenta (human)

NCBI chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006

G

ATPase plasma membrane Ca2+ transporting 3

mRNA:decreased expression:placenta (human)

NCBI chr X:143,068,171...143,133,479
Ensembl chr X:152,955,109...153,019,445

G

ATPase plasma membrane Ca2+ transporting 4

mRNA:decreased expression:placenta (human)

NCBI chr 1:179,231,712...179,348,759
Ensembl chr 1:183,580,773...183,639,882

G

BCL2 interacting protein 3 like

NCBI chr 8:25,661,629...25,685,878
Ensembl chr 8:22,567,428...22,593,004

G

chromosome 10 C12orf43 homolog

ClinVar Annotator: match by term: Gestational diabetes

PMID:9562352 PMID:25741868 PMID:35299962

NCBI chr12:118,583,873...118,599,866
Ensembl chr12:121,955,849...121,969,658

G

calbindin 1

mRNA:decreased expression:placenta (human)

NCBI chr 8:86,747,702...86,771,995
Ensembl chr 8:88,699,532...88,723,814

G

C-C motif chemokine ligand 2

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077

G

CDK5 regulatory subunit associated protein 1 like 1

DNA:snp: :rs7756992,rs7754840(human)

NCBI chr 6:20,357,897...21,064,873
Ensembl chr 6:20,717,011...21,405,566

G

cytochrome P450 family 19 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554

G

cytochrome P450 family 24 subfamily A member 1

mRNA:increased expression:placenta (human)

NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716

G

cytochrome P450 family 27 subfamily B member 1

mRNA:increased expression:placenta (human)

NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822

G

cytochrome P450 family 2 subfamily R member 1

mRNA:decreased expression:placenta (human)

NCBI chr11:14,960,651...14,989,083
Ensembl chr11:14,656,939...14,671,584

G

decorin

NCBI chr12:88,678,791...88,715,677
Ensembl chr12:91,994,129...92,031,413

G

dynein axonemal heavy chain 8

mRNA:decreased expression:placenta (human)

NCBI chr 6:38,275,243...38,620,278
Ensembl chr 6:39,479,294...39,800,107

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

forkhead box M1

NCBI chr12:2,978,400...2,999,077
Ensembl chr12:2,910,028...2,930,503

G

glucose-6-phosphatase catalytic subunit 1

protein:increased activity:liver

NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674

G

glutamate decarboxylase 2

NCBI chr10:26,392,877...26,481,859
Ensembl chr10:26,759,243...26,843,197

G

glucokinase

ClinVar Annotator: match by term: Gestational diabetes

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

NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751

G

gamma-glutamyltransferase 1

protein:increased activity:blood

NCBI chr22:5,424,334...5,469,705

G

glutathione peroxidase 1

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

HNF1 homeobox A

ClinVar Annotator: match by term: Gestational diabetes

PMID:9562352 PMID:25741868 PMID:35299962

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

G

intercellular adhesion molecule 1

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

PMID:17990298 PMID:19343356

RGD:2313469 RGD:2313476

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

insulin like growth factor 1 receptor

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

interleukin 10

protein:decreased expression:serum

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 6

protein:increased expression:extracellular space (human)

NCBI chr 7:23,415,922...23,420,767

G

inhibin subunit beta A

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

PMID:7852520 PMID:14663836

RGD:2313385 RGD:2313391

NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097

G

insulin

protein:increased expression:serum

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

insulin receptor

mRNA, protein:increased expression:placenta (human)

PMID:19179458 PMID:22241286

RGD:10046048 RGD:2307336

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

G

inositol 1,4,5-trisphosphate receptor type 1

mRNA:decreased expression:placenta (human)

NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811

G

inositol 1,4,5-trisphosphate receptor type 2

mRNA:decreased expression:placenta (human)

NCBI chr12:59,478,206...59,984,572
Ensembl chr12:62,092,241...62,596,018

G

inositol 1,4,5-trisphosphate receptor type 3

mRNA:decreased expression:placenta (human)

NCBI chr 6:33,194,531...33,269,788
Ensembl chr 6:34,303,454...34,378,215

G

leptin

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

PMID:19269197 PMID:20421132

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

leptin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

G

somatotropin

protein:increased expression:

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

transient receptor potential cation channel subfamily V member 6

mRNA:decreased expression:placenta (human)

NCBI chr 7:134,862,223...134,877,051
Ensembl chr 7:147,353,684...147,368,475

G

mannose binding lectin 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

menin 1

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

8-oxoguanine DNA glycosylase

mRNA:increased expression:placenta (human)

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

plasminogen activator, tissue type

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

G

retinol binding protein 4

protein:increased expression:blood serum (human)

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

G

resistin

protein:increased expression:serum

NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909

G

ryanodine receptor 1

mRNA:decreased expression:placenta (human)

NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327

G

ryanodine receptor 2

mRNA:decreased expression:placenta (human)

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

ryanodine receptor 3

mRNA:decreased expression:placenta (human)

NCBI chr15:11,816,430...12,379,101
Ensembl chr15:30,817,428...31,214,494

G

S100 calcium binding protein G

mRNA:decreased expression:placenta (human)

NCBI chr X:9,272,311...9,276,147
Ensembl chr X:16,642,211...16,645,760

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:210,052...233,969
Ensembl chr11:255,191...278,732

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:23956348 PMID:30738174 PMID:34175429

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

serine and arginine repetitive matrix 1

protein:increased glycation:placenta (human)

NCBI chr 1:23,844,303...23,874,333
Ensembl chr 1:24,821,565...24,850,997

G

transcription factor 7 like 2

susceptibility

DNA:SNP (human)

NCBI chr10:109,541,524...109,759,499
Ensembl chr10:112,978,167...113,192,281

G

urotensin 2

susceptibility

DNA:polymorphism

NCBI chr 1:6,609,104...6,616,966
Ensembl chr 1:7,854,687...7,864,688

G

vitamin D receptor

mRNA:decreased expression:placenta (human)

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

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 chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,910,421...30,916,465
Ensembl chr 6:31,775,343...31,781,426

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial chaperone BCS1

ClinVar Annotator: match by term: GRACILE syndrome

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

NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856

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 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032

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 chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972

G

apolipoprotein E

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

acid sensing ion channel subunit family member 5

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

NCBI chr 4:148,195,680...148,232,042
Ensembl chr 4:160,012,564...160,048,763

G

chromobox 3

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr 7:26,847,247...26,859,339
Ensembl chr 7:26,450,411...26,462,350

G

coiled-coil domain containing 68

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr18:48,280,443...48,337,823
Ensembl chr18:51,616,129...51,658,312

G

cyclin B3

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

NCBI chr X:42,409,954...42,511,811
Ensembl chr X:50,157,122...50,223,547

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

centromere protein H

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr 5:44,793,303...44,814,297
Ensembl chr 5:46,362,206...46,383,139

G

cAMP responsive element binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:29,054,505...29,470,528
Ensembl chr 7:28,727,385...29,057,973

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 chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

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 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272

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 chr11:2,469,750...2,874,467

G

methylenetetrahydrofolate reductase

no_association

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

PMID:19906129 PMID:22047507 PMID:22882325

RGD:10449404 RGD:10449411 RGD:10449415

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

PIF1 5'-to-3' DNA helicase

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr15:43,756,605...43,766,631
Ensembl chr15:62,041,461...62,052,311

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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

NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309

G

polo like kinase 1

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr16:14,420,972...14,432,821
Ensembl chr16:23,928,773...23,940,779

G

REX4 homolog, 3'-5' exonuclease

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413

G

synaptonemal complex protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:99,311,260...99,322,007
Ensembl chr12:102,711,837...102,720,728

G

thrombomodulin

susceptibility

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

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

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 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

G

alpha hemoglobin stabilizing protein

mRNA:decreased expression:placenta (human)

NCBI chr16:23,436,746...23,438,184
Ensembl chr16:31,897,868...31,899,143

G

CD40 ligand

protein:increased expression:blood platelet (human)

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

erb-b2 receptor tyrosine kinase 2

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fas ligand

susceptibility

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

PMID:28501275 PMID:30066360

RGD:14700669 RGD:14700673

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

hemolytic disease of the fetus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythroblast membrane associated protein (Scianna blood group)

ClinVar Annotator: match by term: Radin blood group

NCBI chr 1:42,115,812...42,143,314
Ensembl chr 1:43,505,756...43,520,622

G

Kell metallo-endopeptidase (Kell blood group)

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

PMID:7849312 PMID:8652402 PMID:25741868

NCBI chr 7:134,897,567...135,237,214
Ensembl chr 7:147,423,103...147,443,895
Ensembl chr 7:147,423,103...147,443,895

G

low affinity immunoglobulin gamma Fc region receptor II-a

DNA:polymorphism: :

NCBI chr 1:136,892,311...136,906,450

G

solute carrier family 14 member 1 (Kidd blood group)

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

NCBI chr18:39,007,475...39,035,489
Ensembl chr18:42,550,210...42,575,723

G

solute carrier family 29 member 1 (Augustine blood group)

ClinVar Annotator: match by term: Fetal Erythroblastosis

NCBI chr 6:43,815,006...43,830,290
Ensembl chr 6:45,099,243...45,113,689

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 chr 1:88,643,664...88,651,962
Ensembl chr 1:123,692,915...123,701,403

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:144,243,493...144,257,419
Ensembl chr X:154,084,412...154,098,475

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 chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558

G

regulator of telomere elongation helicase 1

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

Ensembl chr20:61,581,331...61,618,718

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

Ensembl chr 5:1,300,960...1,338,872

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:25741868 PMID:28492532

NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825

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 chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147

G

KH domain containing 3 like, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole

NCBI chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826

G

mutL homolog 1

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

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

mutS homolog 2

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

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole

PMID:24033266 PMID:25741868

NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Hydatidiform mole

PMID:19246479 PMID:24033266 PMID:25741868

NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

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 chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

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 chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274

G

NLR family pyrin domain containing 7

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

PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 More...

NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844

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 chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826

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 chr22:22,592,508...22,692,370
Ensembl chr22:40,678,001...40,777,076

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

Ensembl chr11:65,427,937...65,522,087

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 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469

G

albumin

disease_progression

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

ankyrin repeat and sterile alpha motif domain containing 3

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

NCBI chr16:3,621,185...3,659,570
Ensembl chr16:4,788,093...4,820,760

G

AT-rich interaction domain 1A

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

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

chromosome 1 C1orf105 homolog

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

PMID:25741868 PMID:26036949

NCBI chr 1:147,942,148...147,966,867
Ensembl chr 1:151,628,511...151,676,565

G

collagen and calcium binding EGF domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222

G

cholinergic receptor nicotinic alpha 1 subunit

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

NCBI chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763

G

cathepsin A

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

NCBI chr20:42,229,064...42,237,627
Ensembl chr20:43,316,530...43,324,671

G

24-dehydrocholesterol reductase

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

NCBI chr 1:54,126,170...54,163,713
Ensembl chr 1:55,714,693...55,754,698

G

dynein axonemal heavy chain 14

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

NCBI chr 1:200,399,800...200,863,406
Ensembl chr 1:205,405,249...205,868,182

G

dynein axonemal heavy chain 9

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

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

NCBI chr17:39,673,338...40,047,090
Ensembl chr17:44,422,928...44,796,983

G

EH domain binding protein 1 like 1

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

NCBI chr11:60,935,156...60,951,756
Ensembl chr11:64,273,027...64,285,950

G

FAT atypical cadherin 4

ClinVar Annotator: match by term: Hydrops fetalis

PMID:25741868 PMID:28492532

NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407

G

Fc receptor like 4

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

NCBI chr 1:132,935,602...132,960,346
Ensembl chr 1:136,728,473...136,752,838

G

flap structure-specific endonuclease 1

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

NCBI chr11:57,092,270...57,096,828
Ensembl chr11:60,455,474...60,456,616

G

forkhead box C2

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

NCBI chr16:67,237,476...67,239,545

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:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

frizzled class receptor 6

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

PMID:25741868 PMID:26036949

NCBI chr 8:99,954,523...99,989,153
Ensembl chr 8:102,110,317...102,144,363

G

polypeptide N-acetylgalactosaminyltransferase 14

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

PMID:25741868 PMID:26036949

NCBI chr2A:30,923,029...31,150,626
Ensembl chr2A:30,995,180...31,221,784

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 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Fetal edema

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

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

Janus kinase 3

ClinVar Annotator: match by term: Fetal edema

PMID:25741868 PMID:28492532

NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964

G

kinesin family member 19

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

NCBI chr17:68,265,125...68,294,738
Ensembl chr17:73,823,342...73,852,266

G

KRAS proto-oncogene, GTPase

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

PMID:24549645 PMID:25741868

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

pulmonary surfactant-associated protein A1

protein:decreased expression:lung

NCBI chr10:76,571,312...76,575,820

G

polycomb protein SUZ12

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

NCBI chr17:24,790,921...24,853,790

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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750

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 chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

G

molybdenum cofactor synthesis 3

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

NCBI chr20:47,305,561...47,310,809
Ensembl chr20:48,432,519...48,433,901

G

myosin binding protein H like

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

NCBI chr 1:111,670,110...111,684,979
Ensembl chr 1:110,833,438...110,847,780

G

myosin XVIIIA

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chr17:27,593,787...27,700,801
Ensembl chr17:28,116,279...28,208,301

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 chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834

G

myelin regulatory factor

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

NCBI chr11:57,052,219...57,088,105
Ensembl chr11:60,412,780...60,448,579

G

nebulin

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

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

NCBI chr2B:38,796,991...39,038,824

G

neuraminidase 1

ClinVar Annotator: match by term: Fetal edema

NCBI chr 6:31,522,392...31,526,097
Ensembl chr 6:32,409,217...32,412,971

G

nuclear receptor binding SET domain protein 1

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

NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351

G

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

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

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

NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068

G

phosphatidylinositol glycan anchor biosynthesis class C

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

PMID:25741868 PMID:26036949

NCBI chr 1:147,891,867...147,942,057
Ensembl chr 1:151,649,468...151,650,361

G

pre-mRNA processing factor 19

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

NCBI chr11:56,153,965...56,169,821
Ensembl chr11:59,595,120...59,607,828

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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Hydrops fetalis

PMID:10449659 PMID:25741868 PMID:31680349

NCBI chr11:47,387,324...47,398,579
Ensembl chr11:47,940,530...47,951,667

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 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942

G

Rho associated coiled-coil containing protein kinase 2

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

NCBI chr2A:11,167,353...11,331,339
Ensembl chr2A:11,318,370...11,478,986

G

ryanodine receptor 1

ClinVar Annotator: match by term: Hydrops fetalis

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

NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327

G

ryanodine receptor 3

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chr15:11,816,430...12,379,101
Ensembl chr15:30,817,428...31,214,494

G

serpin family A member 11

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

NCBI chr14:75,065,755...75,076,662
Ensembl chr14:94,398,596...94,408,909

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 chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312

G

SVOP like

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

NCBI chr 7:130,555,572...130,661,267
Ensembl chr 7:143,045,251...143,127,415

G

thrombospondin type 1 domain containing 1

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

PMID:25741868 PMID:26036949 PMID:28749478

NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504

G

ubinuclein 1

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

NCBI chr16:3,771,623...3,806,575
Ensembl chr16:4,942,191...4,970,986

G

vacuolar protein sorting 13 homolog D

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

NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612

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 chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994

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 chr19:17,864,840...17,867,883
Ensembl chr19:18,835,216...18,838,470

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 chr11:2,908,537...2,911,134

IMAGEI Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA polymerase epsilon, catalytic subunit

susceptibility

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

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

NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

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 chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

G

ATPase phospholipid transporting 8B1

CTD Direct Evidence: marker/mechanism

NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196

G

histone deacetylase 3

severity

NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322

G

interleukin 18

severity

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

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 chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196

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 chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379

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 chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

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 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400

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 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470

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 chr 7:106,886,481...106,983,546
Ensembl chr 7:119,584,817...119,678,614

Lymphatic Malformation 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thrombospondin type 1 domain containing 1

ClinVar Annotator: match by term: Lymphatic malformation 13

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

NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504

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 chr2B:74,622,892...74,728,067
Ensembl chr2B:192,422,283...192,463,064

mastitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

C-X-C motif chemokine receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148

G

toll like receptor 4

mRNA,protein:increased expression:mammary gland:

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

Maternal Phenylketonuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

putative phosphoserine phosphatase-like protein

NCBI chr 7:56,351,434...56,376,714

G

phenylalanine hydroxylase

NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726

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 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 2

treatment

NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685

G

activating transcription factor 2

NCBI chr2B:62,348,245...62,444,428
Ensembl chr2B:179,799,365...179,895,007

G

secretoglobin family 1A member 1

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

NCBI chr11:57,774,560...57,780,334
Ensembl chr11:61,133,649...61,137,873

Megaduodenum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin gamma 2, smooth muscle

ClinVar Annotator: match by term: Megacystis

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

NCBI chr2A:73,966,939...73,993,862
Ensembl chr2A:75,476,877...75,503,658

G

forkhead box F1

ClinVar Annotator: match by term: Fetal megacystis

NCBI chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949

Microcephalic Osteodysplastic Primordial Dwarfism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pericentrin

ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990

microcephalic osteodysplastic primordial dwarfism type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytoplasmic linker associated protein 1

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

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

NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793

G

myosin-7

ClinVar Annotator: match by term: Brachymelic primordial dwarfism

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

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

G

myosin heavy chain 11

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

PMID:25741868 PMID:28492532

Ensembl chr16:16,007,168...16,091,058

microcephalic osteodysplastic primordial dwarfism type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pericentrin

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

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

NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990

Microcephalic Osteodysplastic Primordial Dwarfism, Type III

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytoplasmic linker associated protein 1

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

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

NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793

G

myosin heavy chain 11

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

PMID:25741868 PMID:28492532

Ensembl chr16:16,007,168...16,091,058

G

nudE neurodevelopment protein 1

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

PMID:25741868 PMID:28492532

Ensembl chr16:15,948,881...16,027,986

mild pre-eclampsia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione peroxidase 3

protein:increased expression:plasma

NCBI chr 5:146,447,939...146,456,476

Multiple Pterygium Syndrome, Lethal Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkaline phosphatase, intestinal

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr2B:119,687,673...119,692,300
Ensembl chr2B:238,606,722...238,611,350

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 chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763

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 chr2B:119,757,722...119,768,254
Ensembl chr2B:238,676,495...238,686,987

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 chr2B:119,770,636...119,779,332
Ensembl chr2B:238,689,935...238,696,526

G

DIS3 like 3'-5' exoribonuclease 2

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr2B:119,187,659...119,558,347
Ensembl chr2B:238,030,931...238,347,570

G

alkaline phosphatase, placental type

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr2B:119,594,655...119,600,138
Ensembl chr2B:238,383,768...238,388,105

G

endothelin-converting enzyme-like 1

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr2B:119,711,355...119,719,378
Ensembl chr2B:238,630,731...238,637,233

G

serine protease 56

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr2B:119,751,950...119,757,308
Ensembl chr2B:238,670,931...238,675,839

G

tigger transposable element derived 1

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

PMID:25741868 PMID:28492532

NCBI chr2B:119,779,452...119,782,065
Ensembl chr2B:238,698,311...238,700,086

Neu-Laxova syndrome 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoglycerate dehydrogenase

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

PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240