Pregnancy Complications - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:	Pregnancy Complications	go back to main search page
Accession:	DOID:9004702	browse the term
Definition:	Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases.
Synonyms:	exact_synonym:	Pregnancy Complication; pregnancy disorder
	primary_id:	MESH:D011248
	xref:	EFO:0009682

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Genes (739)

Pregnancy Complications

term browser

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PubMed Reference(s)

RGD Reference(s)

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erythropoietin

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

NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,017,967...60,040,959
Ensembl chr 5:60,019,434...60,025,353

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710

G

nuclear receptor coactivator 2

mRNA:decreased expression:uterus (rat)

NCBI chr 8:65,855,232...66,151,733
Ensembl chr 8:65,855,235...66,040,947

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NFKB inhibitor alpha

susceptibility

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

NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854

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serpin family E member 1

DNA:polymorphism:promoter:rs1799768 (human)

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

Bowen-Conradi syndrome

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RGD Reference(s)

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EMG1 N1-specific pseudouridine methyltransferase

ClinVar Annotator: match by term: Bowen-Conradi syndrome

PMID:19463982 PMID:25741868 PMID:28492532

NCBI chr11:7,004,507...7,009,702
Ensembl chr11:7,004,645...7,009,527

Cardiovascular Pregnancy Complications

term browser

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RGD Reference(s)

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G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

central conducting lymphatic anomaly

term browser

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PubMed 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 chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920

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MyoD family inhibitor domain containing

ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY

PMID:25741868 PMID:35235341

NCBI chr21:83,624,021...83,721,584
Ensembl chr21:83,625,299...83,718,507

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solute carrier family 12 member 9

ClinVar Annotator: match by term: Lymphatic malformation 7

PMID:25741868 PMID:28492532

NCBI chr28:12,358,618...12,374,117
Ensembl chr28:12,359,056...12,373,458

chorioamnionitis

term browser

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advanced glycosylation end-product specific receptor

NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127

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interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611

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interleukin 6

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

PMID:15547537 PMID:25011638 PMID:25687566

RGD:12791291 RGD:12792243 RGD:5128667

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

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lymphotoxin alpha

severity

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

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mannose binding lectin 2

susceptibility

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

NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079

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matrix metallopeptidase 9

severity

protein:increased expression:respiratory system fluid/secretion

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

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transforming growth factor beta 1

severity

protein:increased expression:amniotic fluid

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

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tumor necrosis factor

severity
no_association

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

G

triggering receptor expressed on myeloid cells 1

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

NCBI chr17:30,873,647...30,885,292
Ensembl chr17:30,873,666...30,886,967

choriocarcinoma

term browser

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G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629

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insulin like growth factor 2

disease_progression

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

NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388

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insulin receptor

disease_progression

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

NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592

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platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

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platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

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TIMP metallopeptidase inhibitor 3

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

NCBI chr19:15,621,609...15,684,118
Ensembl chr19:15,622,431...15,680,449

chromosome 17q11.2 deletion syndrome

term browser

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RGD Reference(s)

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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 chr16:25,677,632...25,700,769
Ensembl chr16:25,678,197...25,700,061

dehydrated hereditary stomatocytosis 1

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potassium calcium-activated channel subfamily N member 4

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

NCBI chr 6:37,289,088...37,316,850

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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 chr 5:74,100,675...74,167,194
Ensembl chr 5:74,100,929...74,134,167

Diabetic Embryopathy

term browser

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Fas associated via death domain

NCBI chr 1:4,358,314...4,361,863

eclampsia

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interleukin 6

treatment

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

ectopic pregnancy

term browser

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cysteine-rich secretory protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,658,296...22,676,996
Ensembl chr17:22,659,652...22,677,137

Embryo Loss

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cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:51,905,085...51,910,209
Ensembl chr11:51,905,115...51,909,907

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cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

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C-X-C motif chemokine ligand 12

associated with Diabetes Mellitus, Insulin-Dependent

NCBI chr 9:40,005,580...40,020,513
Ensembl chr 9:40,011,439...40,020,494

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forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725

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glutathione peroxidase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:873,867...876,225

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G protein-coupled receptor kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:6,975,202...6,995,369
Ensembl chr 1:6,975,002...6,995,259

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insulin like growth factor 2

DNA:methylation: :

NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388

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interleukin 18

NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150

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leucine carboxyl methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:22,830,677...22,897,691
Ensembl chr 5:22,830,549...22,897,682

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LIF interleukin 6 family cytokine

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,121,261...13,127,663
Ensembl chr19:13,121,297...13,127,679

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mitogen-activated protein kinase kinase kinase 7

NCBI chr13:15,284,927...15,360,539
Ensembl chr13:15,284,923...15,360,832

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NLR family pyrin domain containing 5

ClinVar Annotator: match by term: Preimplantation embryonic lethality

NCBI chr 6:48,589,792...48,653,181
Ensembl chr 6:48,600,935...48,652,860

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poly(ADP-ribose) glycohydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:41,867,776...42,006,845
Ensembl chr 9:41,869,061...42,005,789

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spalt like transcription factor 1

NCBI chr 5:36,928,711...36,944,158
Ensembl chr 5:36,927,990...36,943,630

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spalt like transcription factor 4

NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321

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solute carrier family 31 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:26,307,308...26,348,701
Ensembl chr12:26,311,334...26,348,694

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

NCBI chr13:22,234,736...22,312,985
Ensembl chr13:22,234,012...22,282,562

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TNF receptor superfamily member 1A

NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902

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ubiquitin conjugating enzyme E2 N

CTD Direct Evidence: marker/mechanism

NCBI chr11:88,810,505...88,842,895

familial gestational hyperthyroidism

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centrosomal protein 128

ClinVar Annotator: match by term: Familial gestational hyperthyroidism

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr24:57,812,637...58,268,404
Ensembl chr24:58,065,960...58,241,800

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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 chr24:58,268,546...58,462,742
Ensembl chr24:58,384,224...58,460,432

fetal akinesia deformation sequence syndrome

term browser

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actin alpha 1, skeletal muscle

ClinVar Annotator: match by term: Fetal akinesia deformation sequence

PMID:25741868 PMID:33060286

NCBI chr25:66,700,448...66,703,325
Ensembl chr25:66,700,369...66,714,891

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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 chr27:45,240,766...45,271,605
Ensembl chr27:45,241,817...45,269,021

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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 chr12:28,739,094...28,872,247

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proteoglycan 4

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

PMID:25741868 PMID:31680123

NCBI chr25:43,120,523...43,138,886
Ensembl chr25:43,120,618...43,137,441

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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 chr 1:17,867,721...17,887,162
Ensembl chr 1:17,868,888...17,887,164

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ryanodine receptor 1

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

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

NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788

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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 chr20:119,289,515...119,573,504
Ensembl chr20:119,288,989...119,569,221

fetal akinesia deformation sequence syndrome 1

term browser

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acid phosphatase 2, lysosomal

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

PMID:17686188 PMID:28492532

NCBI chr 1:18,061,094...18,070,929
Ensembl chr 1:18,060,994...18,072,208

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actin alpha 1, skeletal muscle

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

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

NCBI chr25:66,700,448...66,703,325
Ensembl chr25:66,700,369...66,714,891

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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 chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778

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adenylosuccinate synthase 1

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

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

NCBI chr24:82,662,232...82,684,690
Ensembl chr24:82,662,319...82,684,874

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aldehyde dehydrogenase 5 family member A1

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

PMID:25741868 PMID:31680123

NCBI chr17:47,712,785...47,746,198
Ensembl chr17:47,709,888...47,745,830

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ARF GTPase activating protein 2

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

PMID:17686188 PMID:28492532

NCBI chr 1:18,136,257...18,161,083
Ensembl chr 1:18,136,519...18,148,228

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N-acylsphingosine amidohydrolase 1

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

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

NCBI chr 8:16,151,974...16,181,726
Ensembl chr 8:16,151,247...16,181,155

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activating signal cointegrator 1 complex subunit 1

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

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

NCBI chr 9:59,095,335...59,205,646
Ensembl chr 9:59,097,501...59,204,874

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assembly factor for spindle microtubules

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

PMID:25741868 PMID:31680123

NCBI chr25:32,269,518...32,334,617
Ensembl chr25:32,281,424...32,334,977

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ATPase plasma membrane Ca2+ transporting 3

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

PMID:25741868 PMID:31680123

NCBI chr X:127,966,366...128,013,900
Ensembl chr X:127,966,492...128,013,901

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apoptosis and caspase activation inhibitor

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

PMID:25741868 PMID:31680123

NCBI chr26:48,868,244...49,048,037
Ensembl chr26:48,868,475...49,050,258

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bridge-like lipid transfer protein family member 1

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

PMID:25741868 PMID:31680123

NCBI chr 7:69,424,270...69,635,420
Ensembl chr 7:69,457,835...69,635,644

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cholinergic receptor nicotinic delta subunit

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

PMID:25741868 PMID:31680123

NCBI chr10:118,546,408...118,556,343
Ensembl chr10:118,546,464...118,554,993

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contactin associated protein 1

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

PMID:25741868 PMID:31680123

NCBI chr16:63,590,043...63,606,805
Ensembl chr16:63,591,119...63,607,579

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centriolar satellite-associated tubulin polyglutamylase complex regulator 1

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

PMID:17686188 PMID:28492532

NCBI chr 1:18,148,254...18,374,291
Ensembl chr 1:18,150,732...18,374,254

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damage specific DNA binding protein 2

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

PMID:17686188 PMID:28492532

NCBI chr 1:18,071,011...18,096,660
Ensembl chr 1:18,071,383...18,096,595

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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 chr27:45,240,766...45,271,605
Ensembl chr27:45,241,817...45,269,021

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DEAQ-box RNA dependent ATPase 1

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

PMID:25741868 PMID:31680123

NCBI chr14:32,752,030...32,760,359
Ensembl chr14:32,752,842...32,760,045

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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 chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099

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glutamyl-tRNA synthetase 2, mitochondrial

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr 5:21,248,866...21,282,725
Ensembl chr 5:21,251,224...21,282,966

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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 chr12:42,798,609...42,819,431
Ensembl chr12:42,799,067...42,803,471

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fibulin 1

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

PMID:25741868 PMID:31680123

NCBI chr19:27,962,669...28,061,356
Ensembl chr19:27,962,642...28,061,364

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fibrillin 2

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

NCBI chr23:31,204,652...31,476,677
Ensembl chr23:31,204,391...31,475,820

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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 chr22:95,228,926...95,503,798
Ensembl chr22:95,229,133...95,504,840

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GCN1 activator of EIF2AK4

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

PMID:25741868 PMID:31680123

NCBI chr11:115,479,321...115,545,465
Ensembl chr11:115,477,825...115,545,418

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GDNF family receptor alpha 4

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

PMID:25741868 PMID:31680123

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gliomedin

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

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

NCBI chr26:31,966,166...32,034,236
Ensembl chr26:31,966,961...32,034,016

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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 chr27:45,691,936...45,765,334

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HGF activator

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

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

NCBI chr27:45,283,213...45,290,922
Ensembl chr27:45,283,206...45,290,644

G

huntingtin

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

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

NCBI chr27:45,493,467...45,657,690
Ensembl chr27:45,497,352...45,657,621

G

IQ motif and Sec7 domain ArfGEF 3

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

PMID:25741868 PMID:31680123

NCBI chr11:69,565...179,968
Ensembl chr11:69,712...179,103

G

leucine rich repeat LGI family member 4

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

PMID:25741868 PMID:31680123

NCBI chr 6:30,057,248...30,075,435
Ensembl chr 6:30,057,917...30,067,696

G

sperm-associated antigen 16 protein

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

PMID:25741868 PMID:31680123

NCBI chr10:99,044,097...100,215,884

G

LDL receptor related protein 4

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

PMID:17686188 PMID:28492532

NCBI chr 1:18,393,489...18,474,514
Ensembl chr 1:18,413,513...18,471,444

G

MAP kinase activating death domain

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

PMID:17686188 PMID:28492532

NCBI chr 1:17,987,573...18,041,317
Ensembl chr 1:17,986,860...18,042,266

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 chr20:19,980,543...20,265,612
Ensembl chr20:19,978,673...20,108,628

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 chr27:45,806,889...45,811,122
Ensembl chr27:45,807,306...45,810,849

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 chr27:45,480,897...45,490,192
Ensembl chr27:45,480,545...45,491,188

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 chr12:28,739,094...28,872,247

G

myosin binding protein C3

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

PMID:17686188 PMID:28492532

NCBI chr 1:17,964,581...17,986,351
Ensembl chr 1:17,963,706...17,985,758

G

alpha-N-acetylgalactosaminidase

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

PMID:25741868 PMID:31680123

NCBI chr19:24,589,133...24,607,753
Ensembl chr19:24,592,409...24,607,682

G

sodium leak channel, non-selective

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

PMID:25741868 PMID:27214504 PMID:31680123

NCBI chr 3:79,663,714...80,010,361
Ensembl chr 3:79,663,725...79,992,503

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 chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307

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 chr27:45,765,452...45,803,010
Ensembl chr27:45,765,603...45,806,730

G

nuclear receptor subfamily 1 group H member 3

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

PMID:17686188 PMID:28492532

NCBI chr 1:18,041,495...18,061,196
Ensembl chr 1:18,041,830...18,051,501

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 chr 1:18,125,207...18,135,866
Ensembl chr 1:18,130,727...18,135,454

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 chr18:70,161,961...70,623,912
Ensembl chr18:70,246,132...70,622,611

G

proteoglycan 4

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:31680123

NCBI chr25:43,120,523...43,138,886
Ensembl chr25:43,120,618...43,137,441

G

prickle planar cell polarity protein 1

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

PMID:25741868 PMID:31680123

NCBI chr11:38,696,771...38,819,324
Ensembl chr11:38,694,602...38,718,519

G

proteasome 26S subunit, ATPase 3

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

PMID:17686188 PMID:28492532

NCBI chr 1:17,881,844...17,896,942

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 chr 1:17,867,721...17,887,162
Ensembl chr 1:17,868,888...17,887,164

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 chr27:45,302,193...45,444,012

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 chr12:102,172,288...102,397,297

G

ryanodine receptor 1

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

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

NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788

G

sodium voltage-gated channel alpha subunit 4

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

PMID:25741868 PMID:31680123

NCBI chr16:57,273,143...57,331,677
Ensembl chr16:57,282,252...57,331,035

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 chr15:767,854...869,787
Ensembl chr15:794,963...867,457

G

sodium voltage-gated channel alpha subunit 8

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

PMID:25741868 PMID:31680123

NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399

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 chr18:35,819,559...36,195,895

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 chr27:45,919,717...45,961,355
Ensembl chr27:45,920,171...45,942,425

G

solute carrier family 39 member 13

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

PMID:17686188 PMID:28492532

NCBI chr 1:17,899,349...17,907,165
Ensembl chr 1:17,899,030...17,905,850

G

Spi-1 proto-oncogene

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

PMID:17686188 PMID:28492532

NCBI chr 1:17,935,037...17,961,638
Ensembl chr 1:17,935,922...17,961,717

G

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

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

NCBI chr12:28,806,583...29,183,167
Ensembl chr12:28,959,222...29,181,871

G

thymopoietin

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

PMID:25741868 PMID:31680123

NCBI chr11:93,815,870...93,852,577
Ensembl chr11:93,817,820...93,853,703

G

thioredoxin

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

NCBI chr12:29,296,166...29,308,979

G

thioredoxin domain containing 8

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

NCBI chr12:29,215,704...29,250,207

G

unc-50 inner nuclear membrane RNA binding protein

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

PMID:25741868 PMID:31680123

NCBI chr14:2,322,167...2,333,518
Ensembl chr14:2,322,206...2,333,495

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr20:119,289,515...119,573,504
Ensembl chr20:119,288,989...119,569,221

G

zinc finger E-box binding homeobox 2

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

PMID:25741868 PMID:31680123

NCBI chr10:29,732,934...29,864,157
Ensembl chr10:29,729,305...29,864,205

G

zinc finger protein 875

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

PMID:25741868 PMID:31680123

NCBI chr 6:32,016,808...32,036,253

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 chr 1:17,867,721...17,887,162
Ensembl chr 1:17,868,888...17,887,164

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 chr20:70,371,775...70,599,311
Ensembl chr20:70,372,534...70,598,614

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 chr27:45,240,766...45,271,605
Ensembl chr27:45,241,817...45,269,021

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 chr16:4,795,525...4,829,194
Ensembl chr16:4,792,569...4,829,127

G

rabaptin, RAB GTPase binding effector protein 1

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

NCBI chr16:4,670,448...4,795,309
Ensembl chr16:4,670,499...4,792,689

fetal alcohol spectrum disorder

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:70,549,665...71,253,928
Ensembl chr 9:70,893,260...71,254,245

G

apolipoprotein E

NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438

G

BPI fold containing family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:37,571,577...37,579,529
Ensembl chr 2:37,573,837...37,578,667

G

complement C3

protein:increased activity:blood

NCBI chr 6:6,250,422...6,289,264

G

complement C5

protein:increased activity:blood

NCBI chr12:18,525,855...18,624,048
Ensembl chr12:18,525,880...18,623,636

G

catalase

CTD Direct Evidence: therapeutic

NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592

G

iodothyronine deiodinase 3

treatment

NCBI chr24:79,538,264...79,544,448

G

DNA methyltransferase 1

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

NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607

G

DNA methyltransferase 3 beta

mRNA:increased expression:pituitary gland (rat)

NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570

G

dopamine receptor D2

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

PMID:26509893 PMID:28710248

RGD:11344152 RGD:401960105

NCBI chr 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736

G

euchromatic histone lysine methyltransferase 2

mRNA:increased expression:pituitary gland (rat)

NCBI chr17:40,123,935...40,141,942
Ensembl chr17:40,124,640...40,141,616

G

gamma-aminobutyric acid type A receptor subunit beta3

treatment
sexual_dimorphism

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

PMID:23763370 PMID:30312858

RGD:13432044 RGD:405866345

NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855

G

gamma-aminobutyric acid type A receptor subunit gamma2

mRNA:increased expression:posterior hypothalamic region (rat)

NCBI chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

PMID:22037411 PMID:23763370

RGD:13210751 RGD:13432044

NCBI chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202

G

histone deacetylase 2

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

NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742

G

histone deacetylase 4

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

NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227

G

hydroxysteroid 11-beta dehydrogenase 2

protein:increased expression:placenta (rat)

NCBI chr 5:60,017,967...60,040,959
Ensembl chr 5:60,019,434...60,025,353

G

insulin like growth factor 1

mRNA:decreased expression:cerebellum (rat)

NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308

G

insulin like growth factor 1 receptor

protein:decreased activity:cerebellum (rat)

NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930

G

corticotropin-releasing factor receptor 1

sexual_dimorphism

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

NCBI chr16:60,070,156...60,120,857
Ensembl chr16:60,070,066...60,120,712

G

methionine adenosyltransferase 2A

mRNA:decreased expression:brain (rat)

NCBI chr14:21,609,533...21,615,822
Ensembl chr14:21,611,040...21,615,615

G

methyl-CpG binding protein 2

treatment

mRNA:increased expression:pituitary gland (rat)

PMID:23763370 PMID:26509893

RGD:11344152 RGD:13432044

NCBI chr X:128,445,028...128,519,892
Ensembl chr X:128,453,577...128,455,785

G

5-methyltetrahydrofolate-homocysteine methyltransferase

mRNA:decreased expression:brain (rat)

NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741

G

nitric oxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:112,642,374...112,673,882

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 7:94,574,010...94,935,348

G

opioid receptor kappa 1

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

NCBI chr 8:49,337,308...49,364,724
Ensembl chr 8:49,341,427...49,362,947

G

prodynorphin

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

NCBI chr 2:54,535,516...54,551,085
Ensembl chr 2:54,535,240...54,551,104

G

period circadian regulator 2

treatment

NCBI chr10:124,270,917...124,316,031
Ensembl chr10:124,269,543...124,315,904

G

prepronociceptin

mRNA:increased expression:nucleus accumbens

NCBI chr 8:26,418,473...26,444,689
Ensembl chr 8:26,418,815...26,444,677

G

proopiomelanocortin

treatment

NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447

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 chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631

G

phosphatase and tensin homolog

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

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

Ras protein specific guanine nucleotide releasing factor 1

treatment

NCBI chr26:4,298,091...4,431,606
Ensembl chr26:4,299,116...4,432,420

G

ribosomal protein S6 kinase A1

CTD Direct Evidence: marker/mechanism

NCBI chr20:106,180,708...106,226,636
Ensembl chr20:106,180,418...106,226,552

G

SET domain containing 7, histone lysine methyltransferase

mRNA:decreased expression:pituitary gland (rat)

NCBI chr 7:86,476,101...86,528,146
Ensembl chr 7:86,481,726...86,527,779

G

solute carrier family 25 member 12

treatment

NCBI chr10:57,268,948...57,387,958
Ensembl chr10:57,265,550...57,387,910

G

solute carrier family 6 member 4

mRNA:decreased expression:brain (rat)

NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616

G

toll like receptor 4

ameliorates

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

ubiquitin protein ligase E3A

treatment

NCBI chr26:56,638,936...56,738,555
Ensembl chr26:56,666,162...56,736,737

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 chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704

Fetal Death

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha hemoglobin stabilizing protein

mRNA, protein:decreased expression:placenta (human)

NCBI chr 5:28,226,778...28,227,743
Ensembl chr 5:28,226,598...28,227,780

G

ATR serine/threonine kinase

NCBI chr15:48,048,785...48,173,120
Ensembl chr15:48,048,882...48,173,137

G

coagulation factor V

no_association

NCBI chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872

G

grainyhead like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:108,338,891...108,375,351
Ensembl chr20:108,330,121...108,361,887

G

heat shock protein family D (Hsp60) member 1

NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363

G

lysophosphatidic acid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:28,502,717...28,669,581
Ensembl chr12:28,503,354...28,669,795

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339

G

oxytocin/neurophysin I prepropeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 2:33,749,520...33,750,981
Ensembl chr 2:33,750,108...33,750,968

G

platelet derived growth factor receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

G

retinol dehydrogenase 10

CTD Direct Evidence: marker/mechanism

NCBI chr 8:68,903,665...68,933,536
Ensembl chr 8:68,904,352...68,933,792

G

tissue factor pathway inhibitor

associated with Hemorrhage;

NCBI chr10:73,004,762...73,105,772
Ensembl chr10:73,002,522...73,105,858

G

TNF receptor superfamily member 1B

associated with Endotoxemia; human protein in rat model

NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497

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 chr 9:93,219,374...93,263,077
Ensembl chr 9:93,219,383...93,262,700

G

nitric oxide synthase 2

associated with Diabetes Mellitus, Experimental

NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257

G

protein kinase C beta

associated with Diabetes Mellitus, Experimental;protein:increased expression

NCBI chr 5:21,558,608...21,940,536
Ensembl chr 5:21,558,441...21,943,864

G

serine protease 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,820,898...27,827,873
Ensembl chr 5:27,817,830...27,824,926

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 chr 9:93,219,374...93,263,077
Ensembl chr 9:93,219,383...93,262,700

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 chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr 9:82,358,937...82,376,289
Ensembl chr 9:82,359,086...82,372,446

G

adiponectin, C1Q and collagen domain containing

treatment

NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391

G

adiponectin receptor 1

treatment

NCBI chr25:26,445,993...26,462,346
Ensembl chr25:26,453,242...26,462,549

G

adiponectin receptor 2

treatment

NCBI chr11:1,802,694...1,836,703
Ensembl chr11:1,738,026...1,837,060

G

angiotensinogen

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

PMID:17537837 PMID:20530295 PMID:26270574

RGD:11538508 RGD:13432363

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

angiotensin II receptor type 1

NCBI chr15:41,957,826...42,002,776

G

angiotensin II receptor type 2

G

aldehyde dehydrogenase 18 family member A1

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

NCBI chr 9:88,773,493...88,823,438

G

anaphase promoting complex subunit 2

protein:increased expression:serum (human)

NCBI chr12:1,000,885...1,014,710
Ensembl chr12:1,000,952...1,016,261

G

apolipoprotein E

mRNA:increased expression:adrenal gland (rat)

NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438

G

apolipoprotein H

NCBI chr16:55,209,142...55,231,176

G

arginase 1

RNA:increased expression:thoracic aorta:

NCBI chr13:41,971,955...41,983,372
Ensembl chr13:41,971,802...41,983,049

G

ATP synthase F1 subunit alpha

protein:increased expression:retroperitoneal fat pad (rat)

NCBI chr18:34,815,924...34,828,052
Ensembl chr18:34,816,027...34,830,924

G

ATP synthase F1 subunit beta

protein:decreased expression:liver (rat)

NCBI chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chr 6:42,186,028...42,193,105

G

BCL2 apoptosis regulator

treatment

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

bone morphogenetic protein 4

NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

G

calcium voltage-gated channel subunit alpha1 C

protein:decreased expression:pancreas (rat)

NCBI chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991

G

calcium voltage-gated channel subunit alpha1 D

protein:decreased expression:pancreas (rat)

NCBI chr22:14,868,459...15,195,002
Ensembl chr22:15,027,565...15,197,101

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

NCBI chr14:80,371,154...80,399,193
Ensembl chr14:80,371,096...80,398,914

G

caspase 3

treatment

NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899

G

collagen type II alpha 1 chain

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

NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

G

catechol-O-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422

G

carbamoyl-phosphate synthase 1

NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206

G

cystathionine gamma-lyase

CTD Direct Evidence: marker/mechanism

NCBI chr20:62,672,820...62,718,608
Ensembl chr20:62,690,906...62,718,980

G

cytochrome P450 family 11 subfamily A member 1

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

NCBI chr26:9,122,008...9,151,844

G

cytochrome P450 family 11 subfamily B member 1

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

NCBI chr 8:137,125,409...137,132,267

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 chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

DEAD-box helicase 23

ClinVar Annotator: match by term: Intrauterine growth retardation

PMID:25741868 PMID:34050707

NCBI chr11:45,071,884...45,092,287
Ensembl chr11:45,071,611...45,092,646

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr10:105,312,348...105,320,869

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:78,687,542...78,695,782
Ensembl chr24:78,687,668...78,695,607

G

DNA methyltransferase 1

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

PMID:12869365 PMID:16380407 PMID:24717552

RGD:9588242 RGD:9588619 RGD:9590296

NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607

G

DNA methyltransferase 3 beta

mRNA:increased expression:adrenal gland:

NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570

G

dual specificity phosphatase 1

NCBI chr23:74,931,421...74,934,510
Ensembl chr23:74,929,863...74,934,532

G

dual specificity phosphatase 5

NCBI chr 9:103,435,015...103,449,100
Ensembl chr 9:103,435,343...103,449,171

G

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Intrauterine growth restriction

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

NCBI chr 1:94,484,090...94,849,960
Ensembl chr 1:94,484,512...94,849,581

G

ETS transcription factor ELK1

mRNA:decreased expression:placenta

G

estrogen related receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr25:12,495,234...13,090,739
Ensembl chr25:12,866,321...13,090,733

G

Fas ligand

severity

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

PMID:16169656 PMID:23582102

RGD:12903972 RGD:12904025

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514

G

FTO alpha-ketoglutarate dependent dioxygenase

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

NCBI chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747

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 chr16:63,380,921...63,392,122
Ensembl chr16:63,381,382...63,391,540

G

glial cell derived neurotrophic factor

mRNA, protein:decreased expression:kidney

NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257

G

ghrelin and obestatin prepropeptide

disease_progression

NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962

G

growth hormone secretagogue receptor

disease_progression

NCBI chr15:17,008,185...17,013,504
Ensembl chr15:17,009,369...17,012,618

G

glutamate dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:44,653,044...44,690,142
Ensembl chr 9:44,653,289...44,688,954

G

glutamate ionotropic receptor AMPA type subunit 1

protein:decreased expression:cerebral cortical neuron (rat)

NCBI chr23:55,944,128...56,265,748
Ensembl chr23:56,101,294...56,265,849

G

glutamate ionotropic receptor NMDA type subunit 2A

protein:decreased expression:cerebral cortical neuron (rat)

NCBI chr 5:9,233,028...9,707,322
Ensembl chr 5:9,286,775...9,462,828

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

NCBI chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

mRNA:decreased expression

NCBI chr14:81,411,620...81,468,415
Ensembl chr14:81,411,648...81,472,257

G

histone deacetylase 1

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

PMID:16380407 PMID:18464933 PMID:24717552

RGD:2311214 RGD:9588242 RGD:9590296

NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556

G

histone deacetylase 2

mRNA:increased expression:adrenal gland:

NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742

G

hepatocyte nuclear factor 4 alpha

DNA:altered methylation:prompter:

NCBI chr 2:19,390,870...19,466,300
Ensembl chr 2:19,388,891...19,421,664

G

hydroxysteroid 11-beta dehydrogenase 2

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

NCBI chr 5:60,017,967...60,040,959
Ensembl chr 5:60,019,434...60,025,353

G

insulin like growth factor 1

treatment
onset

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

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

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

NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308

G

insulin like growth factor 1 receptor

onset

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

PMID:12536576 PMID:14657428 PMID:24239160

RGD:12904720 RGD:12904724 RGD:1624299

NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930

G

insulin like growth factor 2

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

PMID:1408464 PMID:12087403 PMID:16040806

NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388

G

insulin like growth factor 2 receptor

mRNA:increased expresssion:fetus:

NCBI chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116

G

insulin like growth factor binding protein 3

treatment

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

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

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

NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205

G

interleukin 1 alpha

mRNA:increased expression:placenta

NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611

G

insulin receptor substrate 1

mRNA,protein:decreased expression:growth plate:

NCBI chr10:112,748,283...112,812,368

G

insulin receptor substrate 2

NCBI chr 3:88,045,439...88,076,468

G

leptin

NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220

G

glutathione S-transferase Mu 1

susceptibility

DNA:deletion:: (human)

PMID:19147266 PMID:22310945

RGD:10450795 RGD:12792219

NCBI chr20:23,854,969...23,861,634

G

mucin-4

NCBI chr15:91,313,060...91,345,172

G

MDM2 proto-oncogene

mRNA:decreased expression:cerebrum (rat)

NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890

G

methyl-CpG binding protein 2

mRNA,protein:decreased expression:hippocampus:

NCBI chr X:128,445,028...128,519,892
Ensembl chr X:128,453,577...128,455,785

G

matrix metallopeptidase 2

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

PMID:17367869 PMID:28157488

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

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

PMID:18771981 PMID:22378735 PMID:25118499

RGD:12910955 RGD:12910958 RGD:12914148

NCBI chr24:41,590,655...41,663,551
Ensembl chr24:41,590,590...41,666,952

G

mucin 1, cell surface associated

NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962

G

mucin 2, oligomeric mucus/gel-forming

NCBI chr 1:893,554...926,854

G

NFE2 like bZIP transcription factor 2

treatment

protein:decreased expression:placenta

PMID:23910525 PMID:25171874

RGD:10412716 RGD:26884462

NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339

G

nitric oxide synthase 1

associated with hyperinsulinemia; protein:decreased expression:placenta

NCBI chr11:112,642,374...112,673,882

G

nitric oxide synthase 2

associated with hyperinsulinemia; protein:increased expression:placenta

NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257

G

nitric oxide synthase 3

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

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

RGD:13792602 RGD:5132592

NCBI chr21:119,174,829...119,196,840

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 chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125

G

origin recognition complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:80,540,331...80,571,989
Ensembl chr20:80,542,532...80,572,237

G

ornithine transcarbamylase

mRNA:altered expression:liver (rat)

NCBI chr X:35,494,334...35,570,923
Ensembl chr X:35,494,287...35,570,845

G

phosphoenolpyruvate carboxykinase 1

mRNA:decreased expression:liver:

NCBI chr 2:6,550,806...6,556,499
Ensembl chr 2:6,549,652...6,556,478

G

platelet derived growth factor subunit A

mRNA:increased expression:placenta

NCBI chr28:21,044,549...21,068,411
Ensembl chr28:21,047,219...21,069,827

G

platelet derived growth factor subunit B

mRNA:increased expression:placenta

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

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 chr 3:7,038,088...7,046,593
Ensembl chr 3:7,041,466...7,045,976

G

proopiomelanocortin

mRNA, protein:decreased expression:hypothalamus

NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447

G

peroxisome proliferator activated receptor gamma

mRNA:decreased expression:lung (rat)

NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418

G

PPARG coactivator 1 alpha

mRNA, protein:increased expression:liver (rat)

NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582

G

peroxiredoxin 6

protein:decreased expression:placenta

NCBI chr25:55,706,920...55,719,196
Ensembl chr25:55,706,885...55,718,665

G

prostaglandin E receptor 3

mRNA, protein:increased expression:placenta (rat)

NCBI chr20:62,093,830...62,293,360
Ensembl chr20:62,095,458...62,174,959

G

prostaglandin-endoperoxide synthase 2

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

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

protein tyrosine phosphatase non-receptor type 11

treatment

with postnatal growth restriction

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

retinol binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:51,011,664...51,033,963

G

renin

CTD Direct Evidence: marker/mechanism

NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420

G

sterile alpha motif domain containing 9

CTD Direct Evidence: marker/mechanism

NCBI chr21:55,895,799...55,913,845
Ensembl chr21:55,907,249...55,912,015

G

serpin family E member 1

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

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

G

SIN3 transcription regulator family member A

NCBI chr26:7,971,208...8,060,888
Ensembl chr26:7,975,484...8,058,278

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 chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033

G

solute carrier family 2 member 2

mRNA, protein:decreased expression:liver

NCBI chr15:18,434,370...18,466,331
Ensembl chr15:18,434,916...18,467,352

G

solute carrier family 2 member 3

protein:increased expression:placenta

NCBI chr11:8,004,861...8,023,023

G

solute carrier family 38 member 2

mRNA, protein:decreased expression:placenta

NCBI chr11:42,580,934...42,595,484
Ensembl chr11:42,580,913...42,595,484

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:60,461,219...60,472,999

G

sterol regulatory element binding transcription factor 1

NCBI chr16:16,847,603...16,874,239
Ensembl chr16:16,845,491...16,859,554

G

steroidogenic acute regulatory protein

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

NCBI chr 8:36,164,891...36,174,424
Ensembl chr 8:36,167,694...36,174,583

G

unc-13 homolog A

NCBI chr 6:16,082,703...16,167,165
Ensembl chr 6:16,084,168...16,154,812

G

vitamin D receptor

mRNA,protein:decreased expression:placenta:

NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Intrauterine growth restriction

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936

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 8:62,052,155...62,056,424
Ensembl chr 8:62,052,592...62,053,182

G

corticotropin releasing hormone receptor 2

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

NCBI chr21:27,703,637...27,738,873
Ensembl chr21:27,708,113...27,739,116

G

early growth response 1

NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374

G

corticotropin-releasing factor receptor 1

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

NCBI chr16:60,070,156...60,120,857
Ensembl chr16:60,070,066...60,120,712

G

matrix metallopeptidase 1

protein:altered expression:heart (rat)

NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767

G

matrix metallopeptidase 13

protein:increased expression:heart (rat)

NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747

G

nitric oxide synthase 1

NCBI chr11:112,642,374...112,673,882

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 chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

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 chr 2:19,390,870...19,466,300
Ensembl chr 2:19,388,891...19,421,664

G

insulin like growth factor 1

protein:increased expression:serum:

NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308

G

insulin like growth factor binding protein 3

protein:increased expression:serum:

NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205

G

lipase C, hepatic type

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

NCBI chr26:24,946,843...25,109,338
Ensembl chr26:24,946,673...25,087,921

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 chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

collagen type I alpha 2 chain

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

NCBI chr21:54,602,780...54,639,832
Ensembl chr21:54,602,398...54,632,780

G

monoamine oxidase A

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,834,158...40,920,404
Ensembl chr X:40,834,159...40,920,444

G

NPHS1 adhesion molecule, nephrin

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

NCBI chr 6:30,736,869...30,763,054
Ensembl chr 6:30,736,966...30,762,929

G

NPHS2 stomatin family member, podocin

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

NCBI chr25:49,786,126...49,804,917

G

zinc finger E-box binding homeobox 2

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

NCBI chr10:29,732,934...29,864,157
Ensembl chr10:29,729,305...29,864,205

Fetal Resorption

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein H

NCBI chr16:55,209,142...55,231,176

G

prolactin

CTD Direct Evidence: therapeutic

NCBI chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631

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 chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631

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 chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391

G

alpha 2-HS glycoprotein

protein:increased expression:serum

NCBI chr15:2,809,234...2,818,382
Ensembl chr15:2,809,028...2,817,514

G

angiopoietin like 6

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

NCBI chr 6:9,162,219...9,175,163

G

apolipoprotein D

NCBI chr15:89,612,210...89,624,038
Ensembl chr15:89,612,040...89,624,012

G

androgen receptor

CTD Direct Evidence: marker/mechanism

NCBI chr X:57,380,587...57,553,613
Ensembl chr X:57,380,611...57,546,776

G

ATPase plasma membrane Ca2+ transporting 1

mRNA:decreased expression:placenta (human)

NCBI chr11:84,985,957...85,053,923
Ensembl chr11:84,989,169...85,103,957

G

ATPase plasma membrane Ca2+ transporting 2

mRNA:decreased expression:placenta (human)

NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220

G

ATPase plasma membrane Ca2+ transporting 3

mRNA:decreased expression:placenta (human)

NCBI chr X:127,966,366...128,013,900
Ensembl chr X:127,966,492...128,013,901

G

ATPase plasma membrane Ca2+ transporting 4

mRNA:decreased expression:placenta (human)

NCBI chr25:25,602,857...25,716,385
Ensembl chr25:25,602,715...25,661,553

G

BCL2 interacting protein 3 like

NCBI chr 8:24,497,311...24,521,424
Ensembl chr 8:24,497,351...24,523,553

G

calbindin 1

mRNA:decreased expression:placenta (human)

NCBI chr 8:85,135,956...85,160,806
Ensembl chr 8:85,137,528...85,160,855

G

C-C motif chemokine ligand 2

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651

G

CDK5 regulatory subunit associated protein 1 like 1

DNA:snp: :rs7756992,rs7754840(human)

NCBI chr17:50,970,764...51,673,551
Ensembl chr17:50,970,678...51,673,579

G

chromosome unknown C12orf43 homolog

ClinVar Annotator: match by term: Gestational diabetes

PMID:9562352 PMID:25741868 PMID:35299962

NCBI chr11:116,358,991...116,373,616
Ensembl chr11:116,360,692...116,373,703

G

cytochrome P450 family 19 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277

G

cytochrome P450 family 24 subfamily A member 1

mRNA:increased expression:placenta (human)

NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884

G

cytochrome P450 family 27 subfamily B member 1

mRNA:increased expression:placenta (human)

NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443

G

cytochrome P450 family 2 subfamily R member 1

mRNA:decreased expression:placenta (human)

NCBI chr 1:50,030,366...50,043,833
Ensembl chr 1:50,031,218...50,047,403

G

decorin

NCBI chr11:86,552,392...86,590,229
Ensembl chr11:86,551,072...86,586,891

G

dynein axonemal heavy chain 8

mRNA:decreased expression:placenta (human)

NCBI chr17:33,110,149...33,427,553
Ensembl chr17:33,110,289...33,419,519

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:70,089,394...70,157,423

G

forkhead box M1

NCBI chr11:2,920,903...2,941,011
Ensembl chr11:2,920,663...2,940,823

G

glucose-6-phosphatase catalytic subunit 1

protein:increased activity:liver

NCBI chr16:63,380,921...63,392,122
Ensembl chr16:63,381,382...63,391,540

G

glutamate decarboxylase 2

NCBI chr 9:25,906,047...25,993,715
Ensembl chr 9:25,906,103...25,995,489

G

glucokinase

ClinVar Annotator: match by term: Gestational diabetes

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

NCBI chr21:14,475,723...14,523,086
Ensembl chr21:14,507,902...14,523,850

G

gamma-glutamyltransferase 1

protein:increased activity:blood

G

glutathione peroxidase 1

NCBI chr22:10,754,976...10,756,617

G

HNF1 homeobox A

ClinVar Annotator: match by term: Gestational diabetes

PMID:9562352 PMID:25741868 PMID:35299962

NCBI chr11:116,334,935...116,358,582
Ensembl chr11:116,335,675...116,357,751

G

intercellular adhesion molecule 1

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

PMID:17990298 PMID:19343356

RGD:2313469 RGD:2313476

NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263

G

insulin like growth factor 1 receptor

NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930

G

interleukin 10

protein:decreased expression:serum

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 6

protein:increased expression:extracellular space (human)

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

inhibin subunit beta A

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

PMID:7852520 PMID:14663836

RGD:2313385 RGD:2313391

NCBI chr21:16,936,054...16,951,430
Ensembl chr21:16,936,175...16,946,880

G

insulin

protein:increased expression:serum

NCBI chr 1:1,965,128...1,969,090

G

insulin receptor

mRNA, protein:increased expression:placenta (human)

PMID:19179458 PMID:22241286

RGD:10046048 RGD:2307336

NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592

G

inositol 1,4,5-trisphosphate receptor type 1

mRNA:decreased expression:placenta (human)

NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842

G

inositol 1,4,5-trisphosphate receptor type 2

mRNA:decreased expression:placenta (human)

NCBI chr11:26,089,480...26,574,621
Ensembl chr11:26,089,484...26,574,950

G

inositol 1,4,5-trisphosphate receptor type 3

mRNA:decreased expression:placenta (human)

NCBI chr17:38,381,862...38,456,505
Ensembl chr17:38,381,743...38,456,499

G

leptin

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

PMID:19269197 PMID:20421132

NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220

G

leptin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229

G

mannose binding lectin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079

G

menin 1

NCBI chr 1:9,423,885...9,431,123
Ensembl chr 1:9,423,917...9,431,104

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

8-oxoguanine DNA glycosylase

mRNA:increased expression:placenta (human)

NCBI chr22:45,757,414...45,763,690

G

plasminogen activator, tissue type

NCBI chr 8:40,164,391...40,196,627
Ensembl chr 8:40,163,891...40,196,555

G

retinol binding protein 4

protein:increased expression:blood serum (human)

NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250

G

resistin

protein:increased expression:serum

NCBI chr 6:7,154,771...7,156,459
Ensembl chr 6:7,155,337...7,156,505

G

ryanodine receptor 1

mRNA:decreased expression:placenta (human)

NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788

G

ryanodine receptor 2

mRNA:decreased expression:placenta (human)

NCBI chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451

G

S100 calcium binding protein G

mRNA:decreased expression:placenta (human)

NCBI chr X:15,082,230...15,087,327
Ensembl chr X:15,083,524...15,087,004

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,740...49,471
Ensembl chr 1:26,927...48,944

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:23956348 PMID:30738174 PMID:34175429

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

serine and arginine repetitive matrix 1

protein:increased glycation:placenta (human)

NCBI chr20:108,023,860...108,053,959

G

transcription factor 7 like 2

susceptibility

DNA:SNP (human)

NCBI chr 9:105,828,834...106,047,810

G

transient receptor potential cation channel subfamily V member 5

mRNA:decreased expression:placenta (human)

NCBI chr21:111,787,214...111,816,893
Ensembl chr21:111,787,694...111,811,847

G

transient receptor potential cation channel subfamily V member 6

mRNA:decreased expression:placenta (human)

NCBI chr21:111,750,821...111,766,274
Ensembl chr21:111,750,945...111,765,450

G

urotensin 2

susceptibility

DNA:polymorphism

NCBI chr20:123,903,137...123,910,180

G

vitamin D receptor

mRNA:decreased expression:placenta (human)

NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

NCBI chr 6:47,534,730...47,560,380
Ensembl chr 6:47,539,594...47,552,265

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,306,523...41,313,065

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ClinVar Annotator: match by term: GRACILE syndrome

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

NCBI chr10:104,563,912...104,567,706
Ensembl chr10:104,565,184...104,568,099

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 chr25:4,326,872...4,353,208
Ensembl chr25:4,330,849...4,351,401

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 7:68,940,365...68,970,324
Ensembl chr 7:68,940,304...68,970,811

G

apolipoprotein E

NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438

G

acid sensing ion channel subunit family member 5

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

NCBI chr 7:102,400,785...102,470,174
Ensembl chr 7:102,401,405...102,438,308

G

chromobox 3

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr21:32,154,707...32,166,843
Ensembl chr21:32,155,839...32,166,114

G

coiled-coil domain containing 68

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr18:24,746,806...24,803,950

G

cyclin B3

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

NCBI chr X:47,059,747...47,142,911
Ensembl chr X:47,085,605...47,142,788

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:51,905,085...51,910,209
Ensembl chr11:51,905,115...51,909,907

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

centromere protein H

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr 4:65,283,804...65,302,253

G

cAMP responsive element binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr21:29,542,030...29,960,393
Ensembl chr21:29,548,662...29,902,289

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 chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725

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 chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863

G

methylenetetrahydrofolate reductase

no_association

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

PMID:19906129 PMID:22047507 PMID:22882325

RGD:10449404 RGD:10449411 RGD:10449415

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

PIF1 5'-to-3' DNA helicase

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr26:18,755,276...18,765,396
Ensembl chr26:18,756,622...18,765,395

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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

NCBI chr17:20,411,746...20,873,601

G

polo like kinase 1

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr 5:21,388,957...21,408,574
Ensembl chr 5:21,396,204...21,410,718

G

REX4 homolog, 3'-5' exonuclease

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chr12:4,718,728...4,732,138
Ensembl chr12:4,718,799...4,731,241

G

synaptonemal complex protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:96,980,937...96,992,225

G

thrombomodulin

susceptibility

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

NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626

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 chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386

G

alpha hemoglobin stabilizing protein

mRNA:decreased expression:placenta (human)

NCBI chr 5:28,226,778...28,227,743
Ensembl chr 5:28,226,598...28,227,780

G

CD40 ligand

protein:increased expression:blood platelet (human)

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

erb-b2 receptor tyrosine kinase 2

NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

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 chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

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 chr20:90,079,802...90,115,786
Ensembl chr20:90,081,550...90,094,971

G

Fc fragment of IgG receptor IIa

DNA:polymorphism: :

NCBI chr20:2,480,710...2,512,429

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 chr21:111,819,230...111,846,966
Ensembl chr21:111,819,368...111,840,142

G

solute carrier family 14 member 1 (Kidd blood group)

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

NCBI chr18:35,148,552...35,176,121
Ensembl chr18:35,146,190...35,174,948

G

solute carrier family 29 member 1 (Augustine blood group)

ClinVar Annotator: match by term: Fetal Erythroblastosis

NCBI chr17:27,934,537...27,949,120
Ensembl chr17:27,931,945...27,949,006

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 chr20:19,750,106...19,757,190
Ensembl chr20:19,748,898...19,756,901

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:129,015,883...129,029,741
Ensembl chr X:129,016,046...129,030,001

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 chr21:93,572,139...93,688,374
Ensembl chr21:93,571,272...93,655,869

G

regulator of telomere elongation helicase 1

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

NCBI chr 2:531,905...567,430
Ensembl chr 2:531,085...566,840

G

telomerase reverse transcriptase

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

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

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:25741868 PMID:28492532

NCBI chr24:1,222,617...1,225,981
Ensembl chr24:1,222,999...1,225,716

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 chr13:11,560,543...11,578,070
Ensembl chr13:11,560,222...11,578,093

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

NCBI chr16:61,505,796...61,549,720
Ensembl chr16:61,505,825...61,551,890

G

KH domain containing 3 like, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole

NCBI chr17:1,781,156...1,783,344
Ensembl chr17:1,781,026...1,783,111

G

mutL homolog 1

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

NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

mutS homolog 2

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

NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole

PMID:24033266 PMID:25741868

NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Hydatidiform mole

PMID:19246479 PMID:24033266 PMID:25741868

NCBI chr 6:47,534,730...47,560,380
Ensembl chr 6:47,539,594...47,552,265

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

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 chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819

Hydatidiform Mole, Recurrent, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

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

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

NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961

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 chr 6:47,534,730...47,560,380
Ensembl chr 6:47,539,594...47,552,265

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 chr17:1,781,156...1,783,344
Ensembl chr17:1,781,026...1,783,111

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 chr19:24,233,516...24,331,176
Ensembl chr19:24,231,807...24,331,022

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

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 chr25:66,700,448...66,703,325
Ensembl chr25:66,700,369...66,714,891

G

albumin

disease_progression

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

ankyrin repeat and sterile alpha motif domain containing 3

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

NCBI chr 5:4,378,318...4,413,266
Ensembl chr 5:4,375,517...4,413,199

G

AT-rich interaction domain 1A

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

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

collagen and calcium binding EGF domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:20,054,281...20,363,024
Ensembl chr18:20,271,874...20,309,784

G

cholinergic receptor nicotinic alpha 1 subunit

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

NCBI chr10:60,279,837...60,298,931

G

cathepsin A

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

NCBI chr 2:17,986,036...17,993,866
Ensembl chr 2:17,984,310...17,993,489

G

chromosome unknown C1orf105 homolog

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

PMID:25741868 PMID:26036949

NCBI chr25:56,686,755...56,735,766

G

24-dehydrocholesterol reductase

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

NCBI chr20:78,052,565...78,088,918
Ensembl chr20:78,052,607...78,086,303

G

dynein axonemal heavy chain 9

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

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

NCBI chr16:10,947,254...11,316,414
Ensembl chr16:10,948,014...11,317,291

G

EH domain binding protein 1 like 1

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

NCBI chr 1:8,648,318...8,664,990
Ensembl chr 1:8,648,641...8,664,759

G

FAT atypical cadherin 4

ClinVar Annotator: match by term: Hydrops fetalis

PMID:25741868 PMID:28492532

NCBI chr 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546

G

Fc receptor like 4

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

NCBI chr20:6,290,078...6,313,746
Ensembl chr20:6,291,279...6,313,686

G

flap structure-specific endonuclease 1

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

NCBI chr 1:12,057,620...12,062,185

G

forkhead box C2

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

NCBI chr 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134

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:46,349,890...46,365,133

G

frizzled class receptor 6

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

PMID:25741868 PMID:26036949

NCBI chr 8:98,154,173...98,187,864
Ensembl chr 8:98,154,196...98,188,069

G

polypeptide N-acetylgalactosaminyltransferase 14

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

PMID:25741868 PMID:26036949

NCBI chr14:76,370,265...76,611,520
Ensembl chr14:76,526,500...76,611,084

G

glucuronidase beta

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

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

NCBI chr28:1,679,682...1,699,238

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Fetal edema

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

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

Janus kinase 3

ClinVar Annotator: match by term: Fetal edema

PMID:25741868 PMID:28492532

NCBI chr 6:16,301,760...16,323,343
Ensembl chr 6:16,300,525...16,322,859

G

kinesin family member 19

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

NCBI chr16:47,278,541...47,308,125
Ensembl chr16:47,278,546...47,307,707

G

KRAS proto-oncogene, GTPase

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

PMID:24549645 PMID:25741868

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

dynein heavy chain 14, axonemal

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

NCBI chr25:4,355,323...4,831,801
Ensembl chr25:4,749,270...4,817,849

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 chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633

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 chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439

G

molybdenum cofactor synthesis 3

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

NCBI chr 2:13,011,922...13,014,409
Ensembl chr 2:13,012,821...13,014,203

G

myosin binding protein H like

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

NCBI chr20:24,241,153...24,256,042
Ensembl chr20:24,241,758...24,253,001

G

myosin XVIIIA

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chr16:22,836,856...22,942,366

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 chr18:62,321,086...62,474,955
Ensembl chr18:62,320,793...62,465,485

G

myelin regulatory factor

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

NCBI chr 1:12,066,277...12,103,091

G

nebulin

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

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

NCBI chr10:36,917,675...37,142,582

G

neuraminidase 1

ClinVar Annotator: match by term: Fetal edema

NCBI chr17:40,158,530...40,162,254
Ensembl chr17:40,158,679...40,161,723

G

nuclear receptor binding SET domain protein 1

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

NCBI chr23:79,140,148...79,309,579
Ensembl chr23:79,141,114...79,304,820

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 chr 5:74,100,675...74,167,194
Ensembl chr 5:74,100,929...74,134,167

G

phosphatidylinositol glycan anchor biosynthesis class C

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

PMID:25741868 PMID:26036949

NCBI chr25:56,711,459...56,714,109
Ensembl chr25:56,712,941...56,713,834

G

pre-mRNA processing factor 19

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

NCBI chr 1:12,942,238...12,958,853
Ensembl chr 1:12,942,213...12,959,947

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 chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Hydrops fetalis

PMID:10449659 PMID:25741868 PMID:31680349

NCBI chr 1:17,867,721...17,887,162
Ensembl chr 1:17,868,888...17,887,164

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 chr20:7,965,944...7,979,396
Ensembl chr20:7,966,057...7,976,819

G

Rho associated coiled-coil containing protein kinase 2

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

NCBI chr14:96,275,889...96,443,048
Ensembl chr14:96,276,023...96,432,790

G

ryanodine receptor 1

ClinVar Annotator: match by term: Hydrops fetalis

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

NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788

G

serpin family A member 11

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

NCBI chr24:72,223,849...72,236,880
Ensembl chr24:72,223,638...72,232,543

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 chr 9:103,857,229...103,954,724
Ensembl chr 9:103,857,218...103,956,602

G

SUZ12 polycomb repressive complex 2 subunit

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

NCBI chr16:25,413,928...25,474,311
Ensembl chr16:25,413,954...25,476,479

G

SVOP like

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

NCBI chr21:107,299,711...107,383,327
Ensembl chr21:107,300,028...107,363,538

G

thrombospondin type 1 domain containing 1

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

PMID:25741868 PMID:26036949 PMID:28749478

NCBI chr 3:30,152,706...30,180,223
Ensembl chr 3:30,153,364...30,183,302

G

ubinuclein 1

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

NCBI chr 5:4,518,369...4,554,687
Ensembl chr 5:4,525,081...4,552,465

G

vacuolar protein sorting 13 homolog D

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

NCBI chr20:119,289,515...119,573,504
Ensembl chr20:119,288,989...119,569,221

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 chr22:6,861,105...7,021,325
Ensembl chr22:6,861,006...7,020,009

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 chr 6:16,853,397...16,861,924
Ensembl chr 6:16,852,971...16,861,964

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 chr 1:2,696,382...2,699,054
Ensembl chr 1:2,696,233...2,699,028

IMAGEI Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA polymerase epsilon, catalytic subunit

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

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

NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292

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 chr21:61,459,344...61,529,017

G

ATPase phospholipid transporting 8B1

CTD Direct Evidence: marker/mechanism

NCBI chr18:21,930,150...22,086,371
Ensembl chr18:21,930,837...22,088,480

G

histone deacetylase 3

severity

NCBI chr23:44,246,296...44,263,127

G

interleukin 18

severity

NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862

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 chr18:21,930,150...22,086,371
Ensembl chr18:21,930,837...22,088,480

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 chr10:54,458,283...54,575,943
Ensembl chr10:54,459,377...54,575,059

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 chr21:61,459,344...61,529,017

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 chr20:110,693,858...110,809,467
Ensembl chr20:110,693,854...110,809,466

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 chr20:110,809,660...110,817,967

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 chr21:83,624,021...83,721,584
Ensembl chr21:83,625,299...83,718,507

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 chr 3:30,152,706...30,180,223
Ensembl chr 3:30,153,364...30,183,302

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 chr10:72,884,271...72,986,916
Ensembl chr10:72,887,139...72,925,198

mastitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

NCBI chr 6:6,250,422...6,289,264

G

C-X-C chemokine receptor type 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:104,012,906...104,025,599
Ensembl chr10:104,022,811...104,023,893

G

toll like receptor 4

mRNA,protein:increased expression:mammary gland:

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

Maternal Phenylketonuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phenylalanine hydroxylase

NCBI chr11:98,065,869...98,140,011
Ensembl chr11:98,063,199...98,139,285

G

phosphoserine phosphatase

NCBI chr21:2,728,490...2,761,805
Ensembl chr21:2,753,284...2,757,008

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 chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

angiotensin II receptor type 2

treatment

G

activating transcription factor 2

NCBI chr10:60,644,623...60,734,465
Ensembl chr10:60,644,635...60,734,475

G

secretoglobin family 1A member 1

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

NCBI chr 1:11,470,091...11,474,915
Ensembl chr 1:11,470,195...11,474,149

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 chr14:33,363,170...33,390,710
Ensembl chr14:33,363,023...33,390,937

G

forkhead box F1

ClinVar Annotator: match by term: Fetal megacystis

NCBI chr 5:71,898,473...71,902,624
Ensembl chr 5:71,898,786...71,903,661

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 chr 2:89,934,888...90,046,767
Ensembl chr 2:89,936,210...90,046,328

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 chr10:8,639,245...8,946,935
Ensembl chr10:8,639,196...8,946,968

G

myosin-7

ClinVar Annotator: match by term: Brachymelic primordial dwarfism

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

NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771

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myosin heavy chain 11

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

PMID:25741868 PMID:28492532

NCBI chr 5:14,723,930...14,879,390
Ensembl chr 5:14,725,504...14,879,198

microcephalic osteodysplastic primordial dwarfism type II

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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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 chr 2:89,934,888...90,046,767
Ensembl chr 2:89,936,210...90,046,328

Microcephalic Osteodysplastic Primordial Dwarfism, Type III

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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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 chr10:8,639,245...8,946,935
Ensembl chr10:8,639,196...8,946,968

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myosin heavy chain 11

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

PMID:25741868 PMID:28492532

NCBI chr 5:14,723,930...14,879,390
Ensembl chr 5:14,725,504...14,879,198

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nudE neurodevelopment protein 1

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

PMID:25741868 PMID:28492532

NCBI chr 5:14,670,559...14,720,025
Ensembl chr 5:14,684,215...14,722,192

mild pre-eclampsia

term browser

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Object Name

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Source

PubMed Reference(s)

RGD Reference(s)

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glutathione peroxidase 3

protein:increased expression:plasma

NCBI chr23:53,576,950...53,585,321

Multiple Pterygium Syndrome, Lethal Type

term browser

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Object Name

Qualifiers

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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alkaline phosphatase, placental

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr10:118,388,987...118,393,022

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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 chr10:60,279,837...60,298,931

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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 chr10:118,546,408...118,556,343
Ensembl chr10:118,546,464...118,554,993

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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 chr10:118,558,688...118,566,449
Ensembl chr10:118,559,230...118,565,610

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DIS3 like 3'-5' exoribonuclease 2

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr10:117,959,396...118,350,728
Ensembl chr10:117,960,326...118,352,176

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endothelin converting enzyme like 1

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr10:118,500,297...118,507,775
Ensembl chr10:118,500,233...118,507,238

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intestinal-type alkaline phosphatase

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr10:118,475,701...118,480,391
Ensembl chr10:118,476,215...118,479,499

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serine protease 56

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr10:118,538,752...118,545,759
Ensembl chr10:118,540,863...118,545,740

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tigger transposable element derived 1

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

PMID:25741868 PMID:28492532

NCBI chr10:118,568,518...118,571,393

Neu-Laxova syndrome 1

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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phosphoglycerate dehydrogenase

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

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

NCBI chr20:14,045,395...14,075,935
Ensembl chr20:14,045,346...14,076,177

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phosphoserine aminotransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:89,223,463...89,256,017
Ensembl chr12:89,223,526...89,256,022

Nuchal Bleb, Familial

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PubMed Reference(s)

RGD Reference(s)

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CF transmembrane conductance regulator

ClinVar Annotator: match by term: Fetal cystic hygroma

PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More...

NCBI chr21:86,154,313...86,332,436

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leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Fetal cystic hygroma

PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More...

NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439

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SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Nuchal bleb, familial

PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More...

NCBI chr14:68,259,509...68,404,167
Ensembl chr14:68,259,360...68,399,895

oligohydramnios

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angiotensinogen

ClinVar Annotator: match by term: Anhydramnios

PMID:25741868 PMID:35005812

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

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DnaJ heat shock protein family (Hsp40) member B11

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chr15:2,841,377...2,858,192
Ensembl chr15:2,841,255...2,858,202

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inverted formin 2

ClinVar Annotator: match by term: Oligohydramnios

NCBI chr24:82,628,339...82,658,879
Ensembl chr24:82,629,090...82,660,118

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nephrocystin 3

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chr15:57,550,878...57,629,106
Ensembl chr15:57,551,189...57,592,661

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platelet derived growth factor subunit A

mRNA, protein:increased expression:lung

NCBI chr28:21,044,549...21,068,411
Ensembl chr28:21,047,219...21,069,827

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platelet derived growth factor subunit B

mRNA, protein:increased expression:lung

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

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platelet derived growth factor receptor alpha

mRNA:increased expression:lung

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

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platelet derived growth factor receptor beta

mRNA:increased expression:lung

NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

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podoplanin

mRNA, protein:decreased expression:lung

NCBI chr20:118,644,060...118,679,508
Ensembl chr20:118,644,051...118,679,311

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polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551

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polycystin 2, transient receptor potential cation channel

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chr 7:36,369,226...36,445,713
Ensembl chr 7:36,369,524...36,443,612

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PKHD1 ciliary IPT domain containing fibrocystin/polyductin

ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios

PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454