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 (695)

Pregnancy Complications

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fatty acid amide hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624906:2,288,251...2,313,172
Ensembl chrNW_004624906:2,287,985...2,313,172

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624746:18,883,587...18,889,205
Ensembl chrNW_004624746:18,883,353...18,889,402

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365

G

nuclear receptor coactivator 2

mRNA:decreased expression:uterus (rat)

NCBI chrNW_004624744:20,795,385...21,078,706
Ensembl chrNW_004624744:20,938,555...21,078,690

G

NFKB inhibitor alpha

susceptibility

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

NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205

G

serpin family E member 1

DNA:polymorphism:promoter:rs1799768 (human)

NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337

Bowen-Conradi syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EMG1 N1-specific pseudouridine methyltransferase

ClinVar Annotator: match by term: Bowen-Conradi syndrome

PMID:19463982 PMID:25741868 PMID:28492532

NCBI chrNW_004624860:3,605,114...3,611,108
Ensembl chrNW_004624860:3,605,126...3,611,108

Cardiovascular Pregnancy Complications

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624756:4,585,542...4,593,285

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531

central conducting lymphatic anomaly

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EPH receptor B4

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

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

NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777

G

MyoD family inhibitor domain containing

ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY

PMID:25741868 PMID:35235341

NCBI chrNW_004624827:4,499,655...4,586,301
Ensembl chrNW_004624827:4,499,287...4,585,771

G

solute carrier family 12 member 9

ClinVar Annotator: match by term: Lymphatic malformation 7

PMID:25741868 PMID:28492532

NCBI chrNW_004624740:16,297,332...16,307,888
Ensembl chrNW_004624740:16,297,217...16,307,988

chorioamnionitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end-product specific receptor

NCBI chrNW_004624754:24,138,086...24,140,900

G

Fas cell surface death receptor

protein:increased expression:villous trophoblast

NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154

G

interleukin 6

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

PMID:15547537 PMID:25011638 PMID:25687566

RGD:12791291 RGD:12792243 RGD:5128667

NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318

G

lymphotoxin alpha

severity

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

NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182

G

mannose binding lectin 2

susceptibility

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

NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297

G

matrix metallopeptidase 9

severity

protein:increased expression:respiratory system fluid/secretion

NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713

G

transforming growth factor beta 1

severity

protein:increased expression:amniotic fluid

NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605

G

tumor necrosis factor

no_association
severity

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

NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531

choriocarcinoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741

G

insulin like growth factor 2

disease_progression

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

NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026

G

insulin receptor

disease_progression

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

NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184

G

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881

G

TIMP metallopeptidase inhibitor 3

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

NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385

chromosome 17q11.2 deletion syndrome

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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G

ring finger protein 135

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

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

NCBI chrNW_004624875:221,206...231,178
Ensembl chrNW_004624875:220,771...232,394

dehydrated hereditary stomatocytosis 1

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium calcium-activated channel subfamily N member 4

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

NCBI chrNW_004624907:1,266,348...1,279,258
Ensembl chrNW_004624907:1,266,348...1,278,699

G

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

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

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

NCBI chrNW_004624746:821,651...871,481
Ensembl chrNW_004624746:821,726...871,481

Diabetic Embryopathy

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas associated via death domain

NCBI chrNW_004624767:17,050,929...17,059,648
Ensembl chrNW_004624767:17,055,509...17,059,705

eclampsia

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6

treatment

NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318

Embryo Loss

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624802:12,076,443...12,082,608
Ensembl chrNW_004624802:12,076,443...12,082,630

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885

G

C-X-C motif chemokine ligand 12

associated with Diabetes Mellitus, Insulin-Dependent

NCBI chrNW_004624922:1,261,228...1,273,755
Ensembl chrNW_004624922:1,261,228...1,273,758

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374

G

glutathione peroxidase 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624828:7,534,251...7,536,675
Ensembl chrNW_004624828:7,534,449...7,536,586

G

G protein-coupled receptor kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624767:19,212,218...19,231,218
Ensembl chrNW_004624767:19,210,965...19,231,082

G

insulin like growth factor 2

DNA:methylation: :

NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026

G

interleukin 18

NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687

G

leucine carboxyl methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624782:9,974,415...10,043,475
Ensembl chrNW_004624782:9,979,433...10,043,475

G

LIF interleukin 6 family cytokine

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624747:6,558,872...6,565,207
Ensembl chrNW_004624747:6,558,817...6,565,281

G

mitogen-activated protein kinase kinase kinase 7

NCBI chrNW_004624799:3,554,644...3,623,317
Ensembl chrNW_004624799:3,554,678...3,622,289

G

poly(ADP-ribose) glycohydrolase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624928:54,610...188,948
Ensembl chrNW_004624928:54,874...186,353

G

spalt like transcription factor 1

NCBI chrNW_004624757:5,572,510...5,587,623
Ensembl chrNW_004624757:5,572,528...5,587,617

G

spalt like transcription factor 4

NCBI chrNW_004624790:4,153,157...4,170,813
Ensembl chrNW_004624790:4,162,454...4,170,923

G

solute carrier family 31 member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624760:21,832,924...21,879,089
Ensembl chrNW_004624760:21,832,908...21,849,576

G

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

NCBI chrNW_004624785:8,690,039...8,747,160

G

TNF receptor superfamily member 1A

NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711

G

ubiquitin conjugating enzyme E2 N

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624750:13,432,657...13,468,797
Ensembl chrNW_004624750:13,432,661...13,457,776

familial gestational hyperthyroidism

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 128

ClinVar Annotator: match by term: Familial gestational hyperthyroidism

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chrNW_004624734:21,073,758...21,594,080
Ensembl chrNW_004624734:21,073,758...21,506,417

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Familial gestational hyperthyroidism

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

NCBI chrNW_004624734:20,880,438...21,050,756
Ensembl chrNW_004624734:20,882,154...21,050,626

fetal akinesia deformation sequence syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 1, skeletal muscle

ClinVar Annotator: match by term: Fetal akinesia deformation sequence

PMID:25741868 PMID:33060286

NCBI chrNW_004624775:19,650,923...19,653,707
Ensembl chrNW_004624775:19,650,822...19,654,730

G

docking protein 7

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

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

NCBI chrNW_004624755:24,454,458...24,478,257
Ensembl chrNW_004624755:24,457,652...24,478,250

G

muscle associated receptor tyrosine kinase

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

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

NCBI chrNW_004624758:733,380...829,192
Ensembl chrNW_004624758:733,919...829,075

G

proteoglycan 4

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624814:7,306,190...7,320,888

G

receptor associated protein of the synapse

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

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

NCBI chrNW_004624767:1,350,820...1,358,107
Ensembl chrNW_004624767:1,351,370...1,358,187

G

ryanodine receptor 1

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

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

NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314

G

vacuolar protein sorting 13 homolog D

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004624818:632,276...885,450
Ensembl chrNW_004624818:632,278...885,445

fetal akinesia deformation sequence syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 2, lysosomal

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,473,186...1,481,395
Ensembl chrNW_004624767:1,473,205...1,485,345

G

actin alpha 1, skeletal muscle

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

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

NCBI chrNW_004624775:19,650,923...19,653,707
Ensembl chrNW_004624775:19,650,822...19,654,730

G

adducin 1

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

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

NCBI chrNW_004624755:24,854,742...24,927,912
Ensembl chrNW_004624755:24,854,742...24,928,006

G

adenylosuccinate synthase 1

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

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

NCBI chrNW_004624734:536,109...552,406
Ensembl chrNW_004624734:535,101...552,535

G

aldehyde dehydrogenase 5 family member A1

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624756:2,464,912...2,500,773
Ensembl chrNW_004624756:2,464,899...2,501,130

G

ARF GTPase activating protein 2

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,513,088...1,523,495
Ensembl chrNW_004624767:1,513,146...1,523,660

G

N-acylsphingosine amidohydrolase 1

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

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

NCBI chrNW_004624769:21,112,705...21,140,004
Ensembl chrNW_004624769:21,112,851...21,138,831

G

activating signal cointegrator 1 complex subunit 1

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

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

NCBI chrNW_004624754:5,902,696...6,009,564
Ensembl chrNW_004624754:5,902,557...6,009,560

G

assembly factor for spindle microtubules

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624798:3,164,145...3,223,810
Ensembl chrNW_004624798:3,165,393...3,225,181

G

ATPase plasma membrane Ca2+ transporting 3

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624946:247,032...307,645
Ensembl chrNW_004624946:247,168...307,663

G

apoptosis and caspase activation inhibitor

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624804:267,128...468,544
Ensembl chrNW_004624804:305,668...465,998

G

bridge-like lipid transfer protein family member 1

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624777:2,560,296...2,806,083
Ensembl chrNW_004624777:2,560,389...2,806,479

G

cholinergic receptor nicotinic delta subunit

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624843:5,287,362...5,293,507
Ensembl chrNW_004624843:5,287,169...5,293,593

G

contactin associated protein 1

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624795:1,470,234...1,482,066
Ensembl chrNW_004624795:1,470,760...1,481,973

G

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,524,693...1,697,445
Ensembl chrNW_004624767:1,523,534...1,697,838

G

damage specific DNA binding protein 2

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,481,151...1,495,073
Ensembl chrNW_004624767:1,481,447...1,492,467

G

docking protein 7

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

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

NCBI chrNW_004624755:24,454,458...24,478,257
Ensembl chrNW_004624755:24,457,652...24,478,250

G

DEAQ-box RNA dependent ATPase 1

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624749:28,986,955...28,995,413
Ensembl chrNW_004624749:28,987,158...28,995,115

G

dynein cytoplasmic 1 heavy chain 1

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177

G

glutamyl-tRNA synthetase 2, mitochondrial

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004624782:8,698,743...8,719,064
Ensembl chrNW_004624782:8,700,195...8,719,911

G

exosome component 3

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

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

NCBI chrNW_004624930:1,393,087...1,403,483
Ensembl chrNW_004624930:1,393,087...1,398,347

G

fibulin 1

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624752:4,109,478...4,189,987
Ensembl chrNW_004624752:4,109,478...4,190,066

G

fibrillin 2

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

NCBI chrNW_004624774:12,863,446...13,116,929
Ensembl chrNW_004624774:12,863,446...13,116,545

G

1,4-alpha-glucan branching enzyme 1

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004624874:2,157,291...2,444,786
Ensembl chrNW_004624874:2,157,524...2,444,111

G

GCN1 activator of EIF2AK4

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624747:13,446,352...13,510,501
Ensembl chrNW_004624747:13,446,373...13,510,508

G

GDNF family receptor alpha 4

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624741:4,752,376...4,757,642
Ensembl chrNW_004624741:4,753,792...4,757,642

G

gliomedin

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

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

NCBI chrNW_004624731:8,882,199...8,942,083
Ensembl chrNW_004624731:8,882,319...8,942,083

G

G protein-coupled receptor kinase 4

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

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

NCBI chrNW_004624755:24,741,985...24,789,972
Ensembl chrNW_004624755:24,742,073...24,830,314

G

HGF activator

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

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

NCBI chrNW_004624755:24,483,358...24,488,505
Ensembl chrNW_004624755:24,483,431...24,488,450

G

huntingtin

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

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

NCBI chrNW_004624755:24,602,955...24,729,584
Ensembl chrNW_004624755:24,603,490...24,729,333

G

IQ motif and Sec7 domain ArfGEF 3

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624735:8,333,560...8,437,208
Ensembl chrNW_004624735:8,333,613...8,434,127

G

leucine rich repeat LGI family member 4

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624794:8,358,671...8,384,763
Ensembl chrNW_004624794:8,376,607...8,383,642

G

LDL receptor related protein 4

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,708,866...1,757,629

G

MAP kinase activating death domain

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,421,603...1,459,738
Ensembl chrNW_004624767:1,421,603...1,459,507

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 chrNW_004624772:9,108,214...9,375,367
Ensembl chrNW_004624772:9,108,294...9,371,724

G

major facilitator superfamily domain containing 10

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

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

NCBI chrNW_004624755:24,851,095...24,854,355

G

Myb/SANT DNA binding domain containing 1

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

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

NCBI chrNW_004624755:24,590,378...24,602,806
Ensembl chrNW_004624755:24,590,334...24,597,869

G

muscle associated receptor tyrosine kinase

ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I

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

NCBI chrNW_004624758:733,380...829,192
Ensembl chrNW_004624758:733,919...829,075

G

myosin binding protein C3

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,406,563...1,420,778
Ensembl chrNW_004624767:1,406,587...1,420,436

G

alpha-N-acetylgalactosaminidase

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624752:6,682,272...6,689,491
Ensembl chrNW_004624752:6,675,255...6,692,231

G

sodium leak channel, non-selective

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

PMID:25741868 PMID:27214504 PMID:31680123

NCBI chrNW_004624793:9,929,980...10,248,107
Ensembl chrNW_004624793:9,915,273...10,249,563

G

neurofibromin 1

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

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

NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576

G

NOP14 nucleolar protein

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

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

NCBI chrNW_004624755:24,830,885...24,849,798
Ensembl chrNW_004624755:24,831,023...24,849,778

G

nuclear receptor subfamily 1 group H member 3

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,459,601...1,473,224
Ensembl chrNW_004624767:1,459,601...1,467,795

G

protein kinase C and casein kinase substrate in neurons 3

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,505,617...1,512,606
Ensembl chrNW_004624767:1,505,633...1,512,610

G

piezo type mechanosensitive ion channel component 2

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

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

NCBI chrNW_004624770:18,835,706...19,157,177
Ensembl chrNW_004624770:18,836,899...19,157,114

G

proteoglycan 4

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:31680123

NCBI chrNW_004624814:7,306,190...7,320,888

G

prickle planar cell polarity protein 1

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624816:10,087,866...10,185,004
Ensembl chrNW_004624816:10,164,666...10,184,994

G

proteasome 26S subunit, ATPase 3

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,361,970...1,367,282
Ensembl chrNW_004624767:1,362,132...1,372,083

G

receptor associated protein of the synapse

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

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

NCBI chrNW_004624767:1,350,820...1,358,107
Ensembl chrNW_004624767:1,351,370...1,358,187

G

regulator of G protein signaling 12

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

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

NCBI chrNW_004624755:24,489,746...24,567,937
Ensembl chrNW_004624755:24,489,966...24,553,505

G

receptor tyrosine kinase like orphan receptor 2

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004624868:479,303...732,723
Ensembl chrNW_004624868:479,290...731,650

G

ryanodine receptor 1

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

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

NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314

G

ryanodine receptor 3

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624804:467,207...1,030,873
Ensembl chrNW_004624804:467,295...1,030,212

G

sodium voltage-gated channel alpha subunit 4

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624849:1,436,372...1,483,531
Ensembl chrNW_004624849:1,436,047...1,483,531

G

sodium voltage-gated channel alpha subunit 5

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

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

NCBI chrNW_004624731:2,401,358...2,498,212
Ensembl chrNW_004624731:2,401,380...2,498,211

G

sodium voltage-gated channel alpha subunit 8

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624816:498,737...631,850
Ensembl chrNW_004624816:499,179...631,936

G

SET binding protein 1

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

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

NCBI chrNW_004624778:8,444,681...8,800,595
Ensembl chrNW_004624778:8,465,462...8,800,815

G

SH3 domain binding protein 2

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

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

NCBI chrNW_004624755:24,942,542...24,968,384
Ensembl chrNW_004624755:24,941,813...24,957,004

G

solute carrier family 39 member 13

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,368,965...1,376,378
Ensembl chrNW_004624767:1,368,965...1,375,586

G

sperm associated antigen 16

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624765:2,548,748...2,886,134

G

Spi-1 proto-oncogene

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

PMID:17686188 PMID:28492532

NCBI chrNW_004624767:1,376,649...1,404,382
Ensembl chrNW_004624767:1,394,704...1,404,406

G

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

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

NCBI chrNW_004624758:946,334...1,188,976
Ensembl chrNW_004624758:946,999...1,188,933

G

thymopoietin

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624750:9,009,085...9,036,713
Ensembl chrNW_004624750:9,009,085...9,036,747

G

thioredoxin

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

NCBI chrNW_004624758:1,318,108...1,329,011
Ensembl chrNW_004624758:1,318,529...1,329,011

G

thioredoxin domain containing 8

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

NCBI chrNW_004624758:1,219,268...1,277,307

G

unc-50 inner nuclear membrane RNA binding protein

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624749:3,646,365...3,655,666
Ensembl chrNW_004624749:3,645,869...3,655,666

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chrNW_004624818:632,276...885,450
Ensembl chrNW_004624818:632,278...885,445

G

zinc finger E-box binding homeobox 2

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

PMID:25741868 PMID:31680123

NCBI chrNW_004624732:44,097,348...44,226,701
Ensembl chrNW_004624732:44,101,613...44,139,997

fetal akinesia deformation sequence syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

receptor associated protein of the synapse

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

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

NCBI chrNW_004624767:1,350,820...1,358,107
Ensembl chrNW_004624767:1,351,370...1,358,187

fetal akinesia deformation sequence syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dedicator of cytokinesis 7

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

NCBI chrNW_004624742:31,189,890...31,390,284
Ensembl chrNW_004624742:31,189,852...31,390,478

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 chrNW_004624755:24,454,458...24,478,257
Ensembl chrNW_004624755:24,457,652...24,478,250

fetal akinesia deformation sequence syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 88

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

PMID:25741868 PMID:30543681

NCBI chrNW_004624786:9,192,061...9,231,868
Ensembl chrNW_004624786:9,192,061...9,231,705

G

rabaptin, RAB GTPase binding effector protein 1

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

NCBI chrNW_004624786:9,060,953...9,191,767
Ensembl chrNW_004624786:9,060,895...9,191,767

fetal alcohol spectrum disorder

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624791:3,299,287...3,633,631

G

apolipoprotein E

NCBI chrNW_004624907:1,752,322...1,755,308

G

BPI fold containing family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624842:6,024,460...6,031,718

G

complement C3

protein:increased activity:blood

NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946

G

catalase

CTD Direct Evidence: therapeutic

NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739

G

corticotropin releasing hormone receptor 1

sexual_dimorphism

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

NCBI chrNW_004624849:2,484,144...2,528,130
Ensembl chrNW_004624849:2,484,109...2,528,223

G

iodothyronine deiodinase 3

treatment

NCBI chrNW_004624734:2,611,864...2,613,932

G

DNA methyltransferase 1

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

NCBI chrNW_004624828:2,316,042...2,358,866
Ensembl chrNW_004624828:2,315,251...2,358,711

G

DNA methyltransferase 3 beta

mRNA:increased expression:pituitary gland (rat)

NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785

G

dopamine receptor D2

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

PMID:26509893 PMID:28710248

RGD:11344152 RGD:401960105

NCBI chrNW_004624784:8,828,589...8,906,617
Ensembl chrNW_004624784:8,827,006...8,865,529

G

euchromatic histone lysine methyltransferase 2

mRNA:increased expression:pituitary gland (rat)

NCBI chrNW_004624754:24,354,271...24,368,319
Ensembl chrNW_004624754:24,354,284...24,368,638

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 chrNW_004624896:962,253...1,173,842
Ensembl chrNW_004624896:966,487...1,173,625

G

gamma-aminobutyric acid type A receptor subunit gamma2

mRNA:increased expression:posterior hypothalamic region (rat)

NCBI chrNW_004624733:27,506,827...27,593,750
Ensembl chrNW_004624733:27,504,660...27,594,039

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

PMID:22037411 PMID:23763370

RGD:13210751 RGD:13432044

NCBI chrNW_004624752:24,008,520...24,480,834
Ensembl chrNW_004624752:24,135,487...24,459,288

G

histone deacetylase 2

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

NCBI chrNW_004624856:4,834,197...4,861,546
Ensembl chrNW_004624856:4,834,217...4,861,592

G

histone deacetylase 4

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

NCBI chrNW_004624847:3,846,196...4,101,537
Ensembl chrNW_004624847:3,845,858...4,101,487

G

hydroxysteroid 11-beta dehydrogenase 2

protein:increased expression:placenta (rat)

NCBI chrNW_004624746:18,883,587...18,889,205
Ensembl chrNW_004624746:18,883,353...18,889,402

G

insulin like growth factor 1

mRNA:decreased expression:cerebellum (rat)

NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300

G

insulin like growth factor 1 receptor

protein:decreased activity:cerebellum (rat)

NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809

G

methionine adenosyltransferase 2A

mRNA:decreased expression:brain (rat)

NCBI chrNW_004624749:17,596,381...17,603,804
Ensembl chrNW_004624749:17,596,381...17,603,867

G

methyl-CpG binding protein 2

treatment

mRNA:increased expression:pituitary gland (rat)

PMID:23763370 PMID:26509893

RGD:11344152 RGD:13432044

NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246

G

5-methyltetrahydrofolate-homocysteine methyltransferase

mRNA:decreased expression:brain (rat)

NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559

G

nitric oxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624747:15,940,614...16,118,051
Ensembl chrNW_004624747:16,003,969...16,113,165

G

opioid receptor kappa 1

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

NCBI chrNW_004624735:2,301,248...2,325,678
Ensembl chrNW_004624735:2,301,101...2,325,684

G

opioid related nociceptin receptor 1

mRNA:decreased expression:ventral tegmental area

NCBI chrNW_004624741:29,713,937...29,720,617
Ensembl chrNW_004624741:29,714,477...29,720,716

G

prodynorphin

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

NCBI chrNW_004624741:3,239,101...3,253,507
Ensembl chrNW_004624741:3,237,942...3,253,503

G

period circadian regulator 2

treatment

NCBI chrNW_004624847:3,359,174...3,399,584
Ensembl chrNW_004624847:3,361,170...3,390,405

G

prepronociceptin

mRNA:increased expression:nucleus accumbens

NCBI chrNW_004624758:23,007,530...23,026,962
Ensembl chrNW_004624758:23,007,573...23,028,704

G

proopiomelanocortin

treatment

NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020

G

prolactin

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

PMID:26509893 PMID:28710248

RGD:11344152 RGD:401960105

NCBI chrNW_004624756:4,585,542...4,593,285

G

phosphatase and tensin homolog

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

NCBI chrNW_004624791:13,975,235...14,056,900

G

Ras protein specific guanine nucleotide releasing factor 1

treatment

NCBI chrNW_004624941:110,752...222,143
Ensembl chrNW_004624941:110,676...222,092

G

ribosomal protein S6 kinase A1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624764:10,527,012...10,566,625
Ensembl chrNW_004624764:10,526,948...10,569,910

G

SET domain containing 7, histone lysine methyltransferase

mRNA:decreased expression:pituitary gland (rat)

NCBI chrNW_004624777:19,764,383...19,812,804
Ensembl chrNW_004624777:19,768,698...19,814,506

G

solute carrier family 25 member 12

treatment

NCBI chrNW_004624787:9,187,450...9,319,684
Ensembl chrNW_004624787:9,184,514...9,320,060

G

solute carrier family 6 member 4

mRNA:decreased expression:brain (rat)

NCBI chrNW_004624786:2,673,285...2,711,432
Ensembl chrNW_004624786:2,672,552...2,710,914

G

toll like receptor 4

ameliorates

NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120

fetal alcohol syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ras homolog family member A

protein:increased activation:neuron, cerebellum

NCBI chrNW_004624730:3,316,122...3,361,820

Fetal Death

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

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

NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521

G

alpha hemoglobin stabilizing protein

mRNA, protein:decreased expression:placenta (human)

NCBI chrNW_004624782:14,505,300...14,506,221
Ensembl chrNW_004624782:14,504,258...14,506,309

G

ATR serine/threonine kinase

NCBI chrNW_004624730:19,022,012...19,145,474
Ensembl chrNW_004624730:19,022,070...19,145,306

G

coagulation factor V

no_association

NCBI chrNW_004624826:7,438,632...7,507,322
Ensembl chrNW_004624826:7,438,682...7,507,012

G

grainyhead like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624764:8,753,343...8,783,891
Ensembl chrNW_004624764:8,753,567...8,783,162

G

heat shock protein family D (Hsp60) member 1

NCBI chrNW_004624889:2,736,727...2,746,333

G

lysophosphatidic acid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624758:518,070...668,915
Ensembl chrNW_004624758:519,249...669,471

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251

G

oxytocin/neurophysin I prepropeptide

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624741:4,200,594...4,201,416
Ensembl chrNW_004624741:4,200,478...4,201,580

G

platelet derived growth factor receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810

G

retinol dehydrogenase 10

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624744:17,838,047...17,868,423
Ensembl chrNW_004624744:17,837,609...17,868,431

G

tissue factor pathway inhibitor

associated with Hemorrhage;

NCBI chrNW_004624899:2,401,861...2,473,762
Ensembl chrNW_004624899:2,406,282...2,473,883

G

TNF receptor superfamily member 1B

associated with Endotoxemia; human protein in rat model

NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710

Fetal Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of inhibitor of nuclear factor kappa B kinase complex

CTD Direct Evidence: marker/mechanism

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

NCBI chrNW_004624737:12,022,081...12,052,128
Ensembl chrNW_004624737:12,022,419...12,052,131

G

nitric oxide synthase 2

associated with Diabetes Mellitus, Experimental

NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271

G

protein kinase C beta

associated with Diabetes Mellitus, Experimental;protein:increased expression

NCBI chrNW_004624782:8,974,995...9,287,609
Ensembl chrNW_004624782:8,974,765...9,287,702

G

serine protease 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624782:14,169,204...14,177,137
Ensembl chrNW_004624782:14,169,866...14,173,676

fetal encasement syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of inhibitor of nuclear factor kappa B kinase complex

ClinVar Annotator: match by term: Cocoon syndrome

NCBI chrNW_004624737:12,022,081...12,052,128
Ensembl chrNW_004624737:12,022,419...12,052,131

Fetal Growth Retardation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

mRNA:increased expression:kidney (rat)

NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624791:15,243,074...15,259,362
Ensembl chrNW_004624791:15,242,432...15,259,508

G

adiponectin, C1Q and collagen domain containing

treatment

NCBI chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012

G

adiponectin receptor 1

treatment

NCBI chrNW_004624807:7,896,508...7,912,088

G

adiponectin receptor 2

treatment

NCBI chrNW_004624735:11,103,082...11,174,277
Ensembl chrNW_004624735:11,103,076...11,174,337

G

angiotensinogen

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

PMID:17537837 PMID:20530295 PMID:26270574

RGD:11538508 RGD:13432363

NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577

G

angiotensin II receptor type 1

NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463

G

angiotensin II receptor type 2

NCBI chrNW_004624967:327,627...332,000
Ensembl chrNW_004624967:329,284...330,372

G

aldehyde dehydrogenase 18 family member A1

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

NCBI chrNW_004624737:6,921,619...6,970,113
Ensembl chrNW_004624737:6,921,222...6,970,488

G

anaphase promoting complex subunit 2

protein:increased expression:serum (human)

NCBI chrNW_004624760:760,815...772,116
Ensembl chrNW_004624760:760,749...772,855

G

apolipoprotein E

mRNA:increased expression:adrenal gland (rat)

NCBI chrNW_004624907:1,752,322...1,755,308

G

apolipoprotein H

NCBI chrNW_004624870:2,082,050...2,096,220
Ensembl chrNW_004624870:2,081,968...2,099,517

G

arginase 1

RNA:increased expression:thoracic aorta:

NCBI chrNW_004624753:5,737,720...5,749,313
Ensembl chrNW_004624753:5,737,237...5,752,966

G

ATP synthase F1 subunit alpha

protein:increased expression:retroperitoneal fat pad (rat)

NCBI chrNW_004624778:9,773,365...9,784,564
Ensembl chrNW_004624778:9,773,064...9,784,533

G

ATP synthase F1 subunit beta

protein:decreased expression:liver (rat)

NCBI chrNW_004624802:11,400,288...11,408,785
Ensembl chrNW_004624802:11,399,474...11,409,700

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506

G

BCL2 apoptosis regulator

treatment

NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344

G

bone morphogenetic protein 4

NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743

G

calcium voltage-gated channel subunit alpha1 C

protein:decreased expression:pancreas (rat)

NCBI chrNW_004624735:10,201,030...10,927,349
Ensembl chrNW_004624735:10,201,526...10,432,896

G

calcium voltage-gated channel subunit alpha1 D

protein:decreased expression:pancreas (rat)

NCBI chrNW_004624822:3,391,045...3,734,258
Ensembl chrNW_004624822:3,392,044...3,919,415

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

NCBI chrNW_004624738:9,318,213...9,340,765
Ensembl chrNW_004624738:9,318,232...9,340,925

G

collagen type II alpha 1 chain

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

NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513

G

catechol-O-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333

G

carbamoyl-phosphate synthase 1

NCBI chrNW_004624765:5,527,029...5,652,343
Ensembl chrNW_004624765:5,528,112...5,651,415

G

cystathionine gamma-lyase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624742:25,619,261...25,642,477
Ensembl chrNW_004624742:25,619,277...25,642,875

G

DEAD-box helicase 23

ClinVar Annotator: match by term: Intrauterine growth retardation

PMID:25741868 PMID:34050707

NCBI chrNW_004624816:3,320,218...3,334,198
Ensembl chrNW_004624816:3,320,065...3,334,559

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624734:3,363,084...3,372,790
Ensembl chrNW_004624734:3,363,001...3,372,694

G

DNA methyltransferase 1

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

PMID:12869365 PMID:16380407 PMID:24717552

RGD:9588242 RGD:9588619 RGD:9590296

NCBI chrNW_004624828:2,316,042...2,358,866
Ensembl chrNW_004624828:2,315,251...2,358,711

G

DNA methyltransferase 3 beta

mRNA:increased expression:adrenal gland:

NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785

G

dual specificity phosphatase 5

NCBI chrNW_004624737:35,785,133...35,798,201
Ensembl chrNW_004624737:35,784,852...35,798,382

G

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Intrauterine growth restriction

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

NCBI chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072

G

ETS transcription factor ELK1

mRNA:decreased expression:placenta

NCBI chrNW_004624978:194,985...208,105
Ensembl chrNW_004624978:194,992...208,103

G

estrogen related receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624835:815,230...1,326,376
Ensembl chrNW_004624835:812,742...1,015,767

G

Fas cell surface death receptor

susceptibility

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

PMID:15695771 PMID:16169656

RGD:12903973 RGD:12904025

NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848

G

Fas ligand

severity

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

PMID:16169656 PMID:23582102

RGD:12903972 RGD:12904025

NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732

G

FTO alpha-ketoglutarate dependent dioxygenase

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

NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480

G

glucose-6-phosphatase catalytic subunit 1

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

PMID:15448092 PMID:23744881

RGD:14695550 RGD:2315963

NCBI chrNW_004624795:1,331,592...1,339,575
Ensembl chrNW_004624795:1,331,601...1,339,580

G

glial cell derived neurotrophic factor

mRNA, protein:decreased expression:kidney

NCBI chrNW_004624759:17,263,570...17,290,046
Ensembl chrNW_004624759:17,263,969...17,287,723

G

ghrelin and obestatin prepropeptide

disease_progression

NCBI chrNW_004624731:5,257,813...5,262,878
Ensembl chrNW_004624731:5,257,830...5,262,473

G

growth hormone secretagogue receptor

disease_progression

NCBI chrNW_004624730:50,484,763...50,492,443
Ensembl chrNW_004624730:50,488,887...50,492,405

G

glutamate dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624841:133,267...171,324

G

glutamate ionotropic receptor AMPA type subunit 1

protein:decreased expression:cerebral cortical neuron (rat)

NCBI chrNW_004624733:35,337,039...35,648,184
Ensembl chrNW_004624733:35,339,683...35,647,349

G

glutamate ionotropic receptor NMDA type subunit 2A

protein:decreased expression:cerebral cortical neuron (rat)

NCBI chrNW_004624824:7,128,169...7,513,360
Ensembl chrNW_004624824:7,137,909...7,507,910

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

NCBI chrNW_004624752:24,008,520...24,480,834
Ensembl chrNW_004624752:24,135,487...24,459,288

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

mRNA:decreased expression

NCBI chrNW_004624738:8,338,250...8,384,701
Ensembl chrNW_004624738:8,338,250...8,384,704

G

histone deacetylase 1

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

PMID:16380407 PMID:18464933 PMID:24717552

RGD:2311214 RGD:9588242 RGD:9590296

NCBI chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025

G

histone deacetylase 2

mRNA:increased expression:adrenal gland:

NCBI chrNW_004624856:4,834,197...4,861,546
Ensembl chrNW_004624856:4,834,217...4,861,592

G

hepatocyte nuclear factor 4 alpha

DNA:altered methylation:prompter:

NCBI chrNW_004624790:10,039,344...10,065,167
Ensembl chrNW_004624790:10,038,999...10,100,649

G

hydroxysteroid 11-beta dehydrogenase 2

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

NCBI chrNW_004624746:18,883,587...18,889,205
Ensembl chrNW_004624746:18,883,353...18,889,402

G

insulin like growth factor 1

treatment
onset

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

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

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

NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300

G

insulin like growth factor 1 receptor

onset

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

PMID:12536576 PMID:14657428 PMID:24239160

RGD:12904720 RGD:12904724 RGD:1624299

NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809

G

insulin like growth factor 2

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

PMID:1408464 PMID:12087403 PMID:16040806

NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026

G

insulin like growth factor 2 receptor

mRNA:increased expresssion:fetus:

NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151

G

insulin like growth factor binding protein 3

treatment

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

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

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

NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512

G

interleukin 1 alpha

mRNA:increased expression:placenta

NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154

G

insulin receptor substrate 1

mRNA,protein:decreased expression:growth plate:

NCBI chrNW_004624843:1,113,075...1,178,859
Ensembl chrNW_004624843:1,120,974...1,178,859

G

insulin receptor substrate 2

NCBI chrNW_004624793:2,615,092...2,636,835
Ensembl chrNW_004624793:2,614,589...2,636,947

G

leptin

NCBI chrNW_004624783:7,708,820...7,721,610
Ensembl chrNW_004624783:7,708,588...7,721,727

G

cholesterol side-chain cleavage enzyme, mitochondrial

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

NCBI chrNW_004624781:288,594...298,876
Ensembl chrNW_004624781:288,594...300,429

G

cytochrome P450 1A1

mRNA:increased expression:placenta

PMID:16225763 PMID:17706398 PMID:18442069

RGD:11576311 RGD:11576317 RGD:2306659

NCBI chrNW_004627988:7...1,323

G

methyl-CpG binding protein 2

mRNA,protein:decreased expression:hippocampus:

NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246

G

matrix metallopeptidase 2

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

PMID:17367869 PMID:28157488

NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

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

PMID:18771981 PMID:22378735 PMID:25118499

RGD:12910955 RGD:12910958 RGD:12914148

NCBI chrNW_004624734:36,560,486...36,620,043
Ensembl chrNW_004624734:36,560,486...36,620,026

G

mucin 1, cell surface associated

NCBI chrNW_004624885:2,339,281...2,343,351

G

mucin 2, oligomeric mucus/gel-forming

NCBI chrNW_004624766:21,493,125...21,522,535

G

mucin 4, cell surface associated

NCBI chrNW_004624730:61,153,753...61,176,859

G

NFE2 like bZIP transcription factor 2

treatment

protein:decreased expression:placenta

PMID:23910525 PMID:25171874

RGD:10412716 RGD:26884462

NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251

G

nitric oxide synthase 1

associated with hyperinsulinemia; protein:decreased expression:placenta

NCBI chrNW_004624747:15,940,614...16,118,051
Ensembl chrNW_004624747:16,003,969...16,113,165

G

nitric oxide synthase 2

associated with hyperinsulinemia; protein:increased expression:placenta

NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271

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 chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004

G

nuclear receptor subfamily 3 group C member 1

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

PMID:17272666 PMID:20388836

RGD:2308941 RGD:4892120

NCBI chrNW_004624774:2,496,276...2,603,894
Ensembl chrNW_004624774:2,495,304...2,602,632

G

origin recognition complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624859:833,360...863,631
Ensembl chrNW_004624859:833,793...863,539

G

ornithine transcarbamylase

mRNA:altered expression:liver (rat)

NCBI chrNW_004624762:17,038,223...17,104,853
Ensembl chrNW_004624762:17,038,223...17,104,965

G

phosphoenolpyruvate carboxykinase 1

mRNA:decreased expression:liver:

NCBI chrNW_004624741:23,985,257...23,990,354
Ensembl chrNW_004624741:23,985,675...23,989,790

G

platelet derived growth factor subunit A

mRNA:increased expression:placenta

NCBI chrNW_004624740:26,172,808...26,191,557
Ensembl chrNW_004624740:26,169,064...26,188,866

G

platelet derived growth factor subunit B

mRNA:increased expression:placenta

NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593

G

pancreatic and duodenal homeobox 1

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

PMID:12606515 PMID:18464933

RGD:2311214 RGD:2311220

NCBI chrNW_004624776:10,591,855...10,596,738
Ensembl chrNW_004624776:10,591,855...10,596,676

G

proopiomelanocortin

mRNA, protein:decreased expression:hypothalamus

NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020

G

peroxisome proliferator activated receptor gamma

mRNA:decreased expression:lung (rat)

NCBI chrNW_004624956:84,673...207,176
Ensembl chrNW_004624956:83,842...149,481

G

PPARG coactivator 1 alpha

mRNA, protein:increased expression:liver (rat)

NCBI chrNW_004624755:7,826,219...8,460,746
Ensembl chrNW_004624755:8,375,596...8,465,297

G

peroxiredoxin 6

protein:decreased expression:placenta

NCBI chrNW_004624771:8,282,622...8,293,799
Ensembl chrNW_004624771:8,282,062...8,294,340

G

prostaglandin E receptor 3

mRNA, protein:increased expression:placenta (rat)

NCBI chrNW_004624742:25,177,340...25,356,911

G

prostaglandin-endoperoxide synthase 2

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

NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728

G

protein tyrosine phosphatase non-receptor type 11

treatment

with postnatal growth restriction

NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670

G

retinol binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624730:16,091,863...16,119,591
Ensembl chrNW_004624730:16,091,863...16,119,591

G

renin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624807:6,817,472...6,827,374
Ensembl chrNW_004624807:6,817,195...6,827,462

G

sterile alpha motif domain containing 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624809:14,181...64,002
Ensembl chrNW_004624809:42,443...66,279

G

serpin family E member 1

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

NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337

G

SIN3 transcription regulator family member A

NCBI chrNW_004624894:300,027...388,397
Ensembl chrNW_004624894:301,082...362,683

G

solute carrier family 2 member 1

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

PMID:9886959 PMID:11738800

RGD:12879480 RGD:730192

NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037

G

solute carrier family 2 member 2

mRNA, protein:decreased expression:liver

NCBI chrNW_004624730:49,026,603...49,056,363
Ensembl chrNW_004624730:49,025,766...49,056,284

G

solute carrier family 2 member 3

protein:increased expression:placenta

NCBI chrNW_004624860:5,069,246...5,153,435

G

solute carrier family 38 member 2

mRNA, protein:decreased expression:placenta

NCBI chrNW_004624816:5,888,447...5,902,009
Ensembl chrNW_004624816:5,888,414...5,902,897

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958

G

sterol regulatory element binding transcription factor 1

NCBI chrNW_004624849:3,602,103...3,623,922
Ensembl chrNW_004624849:3,602,261...3,623,465

G

steroidogenic acute regulatory protein

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

NCBI chrNW_004624780:5,494,430...5,501,063
Ensembl chrNW_004624780:5,493,786...5,502,030

G

unc-13 homolog A

NCBI chrNW_004624908:418,248...464,203

G

vitamin D receptor

mRNA,protein:decreased expression:placenta:

NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Intrauterine growth restriction

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chrNW_004624738:13,116,317...13,180,935
Ensembl chrNW_004624738:13,115,982...13,181,352

Fetal Hypoxia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

corticotropin releasing hormone

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

NCBI chrNW_004624744:25,194,458...25,196,658
Ensembl chrNW_004624744:25,194,495...25,196,488

G

corticotropin releasing hormone receptor 1

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

NCBI chrNW_004624849:2,484,144...2,528,130
Ensembl chrNW_004624849:2,484,109...2,528,223

G

corticotropin releasing hormone receptor 2

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

NCBI chrNW_004624739:114,383...161,010
Ensembl chrNW_004624739:114,342...161,044

G

early growth response 1

NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205

G

matrix metallopeptidase 1

protein:altered expression:heart (rat)

NCBI chrNW_004624878:71,642...79,660
Ensembl chrNW_004624878:71,642...79,602

G

matrix metallopeptidase 13

protein:increased expression:heart (rat)

NCBI chrNW_004624918:2,228,688...2,239,852

G

nitric oxide synthase 1

NCBI chrNW_004624747:15,940,614...16,118,051
Ensembl chrNW_004624747:16,003,969...16,113,165

Fetal Inflammatory Response Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6

associated with Premature Birth;

NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318

Fetal Macrosomia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepatocyte nuclear factor 4 alpha

DNA:mutations: :

PMID:17407387 PMID:19435144

RGD:12904698 RGD:12904767

NCBI chrNW_004624790:10,039,344...10,065,167
Ensembl chrNW_004624790:10,038,999...10,100,649

G

insulin like growth factor 1

protein:increased expression:serum:

NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300

G

insulin like growth factor binding protein 3

protein:increased expression:serum:

NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512

G

lipase C, hepatic type

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

NCBI chrNW_004624781:13,342,469...13,468,120
Ensembl chrNW_004624781:13,342,357...13,455,055

Fetal Nutrition Disorders

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

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

NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071

G

collagen type I alpha 2 chain

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

NCBI chrNW_004624813:1,174,071...1,209,929
Ensembl chrNW_004624813:1,174,224...1,209,616

G

monoamine oxidase A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624762:11,743,833...11,820,529
Ensembl chrNW_004624762:11,743,712...11,822,377

G

NPHS1 adhesion molecule, nephrin

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

NCBI chrNW_004624794:10,117,464...10,138,511
Ensembl chrNW_004624794:10,116,777...10,135,963

G

NPHS2 stomatin family member, podocin

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

NCBI chrNW_004624771:2,828,758...2,847,995
Ensembl chrNW_004624771:2,828,104...2,849,254

G

zinc finger E-box binding homeobox 2

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

NCBI chrNW_004624732:44,097,348...44,226,701
Ensembl chrNW_004624732:44,101,613...44,139,997

Fetal Resorption

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein H

NCBI chrNW_004624870:2,082,050...2,096,220
Ensembl chrNW_004624870:2,081,968...2,099,517

G

prolactin

CTD Direct Evidence: therapeutic

NCBI chrNW_004624756:4,585,542...4,593,285

Galactorrhea

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624756:4,585,542...4,593,285

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 chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012

G

alpha 2-HS glycoprotein

protein:increased expression:serum

NCBI chrNW_004624730:70,149,461...70,156,058
Ensembl chrNW_004624730:70,149,850...70,156,039

G

angiopoietin like 6

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

NCBI chrNW_004624828:2,291,682...2,301,165
Ensembl chrNW_004624828:2,290,511...2,296,341

G

apolipoprotein D

NCBI chrNW_004624730:62,535,005...62,552,405
Ensembl chrNW_004624730:62,530,673...62,555,129

G

androgen receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624891:3,135,824...3,330,487
Ensembl chrNW_004624891:3,138,848...3,329,459

G

ATPase plasma membrane Ca2+ transporting 1

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624750:16,990,288...17,103,279

G

ATPase plasma membrane Ca2+ transporting 2

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996

G

ATPase plasma membrane Ca2+ transporting 3

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624946:247,032...307,645
Ensembl chrNW_004624946:247,168...307,663

G

ATPase plasma membrane Ca2+ transporting 4

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624807:7,201,924...7,292,010
Ensembl chrNW_004624807:7,201,777...7,250,386

G

BCL2 interacting protein 3 like

NCBI chrNW_004624758:21,284,165...21,309,957
Ensembl chrNW_004624758:21,284,167...21,310,398

G

calbindin 1

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624744:1,930,085...1,960,950
Ensembl chrNW_004624744:1,929,988...1,963,464

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833

G

CDK5 regulatory subunit associated protein 1 like 1

DNA:snp: :rs7756992,rs7754840(human)

NCBI chrNW_004624756:5,498,557...6,143,184

G

chromosome unknown C12orf43 homolog

ClinVar Annotator: match by term: Gestational diabetes

PMID:9562352 PMID:25741868 PMID:35299962

NCBI chrNW_004624747:12,707,113...12,717,767
Ensembl chrNW_004624747:12,707,142...12,716,360

G

decorin

NCBI chrNW_004624750:15,466,938...15,517,475
Ensembl chrNW_004624750:15,470,968...15,516,365

G

dynein axonemal heavy chain 8

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624754:19,260,042...19,528,071
Ensembl chrNW_004624754:19,260,168...19,522,032

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145

G

forkhead box M1

NCBI chrNW_004624860:206,367...222,035
Ensembl chrNW_004624860:207,242...219,959

G

glucose-6-phosphatase catalytic subunit 1

protein:increased activity:liver

NCBI chrNW_004624795:1,331,592...1,339,575
Ensembl chrNW_004624795:1,331,601...1,339,580

G

glutamate decarboxylase 2

NCBI chrNW_004624796:2,700,443...2,771,757
Ensembl chrNW_004624796:2,703,614...2,771,555

G

glucokinase

ClinVar Annotator: match by term: Gestational diabetes

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

NCBI chrNW_004624740:7,844,496...7,885,900
Ensembl chrNW_004624740:7,852,390...7,886,758

G

gamma-glutamyltransferase 1

protein:increased activity:blood

NCBI chrNW_004624747:10,030,034...10,048,554

G

glutathione peroxidase 1

NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626

G

HNF1 homeobox A

ClinVar Annotator: match by term: Gestational diabetes

PMID:9562352 PMID:25741868 PMID:35299962

NCBI chrNW_004624747:12,717,713...12,746,040
Ensembl chrNW_004624747:12,717,707...12,746,724

G

intercellular adhesion molecule 1

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

PMID:17990298 PMID:19343356

RGD:2313469 RGD:2313476

NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071

G

insulin like growth factor 1 receptor

NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809

G

interleukin 10

protein:decreased expression:serum

NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732

G

interleukin 6

protein:increased expression:extracellular space (human)

NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318

G

inhibin subunit beta A

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

PMID:7852520 PMID:14663836

RGD:2313385 RGD:2313391

NCBI chrNW_004624740:19,458,835...19,482,570
Ensembl chrNW_004624740:19,464,289...19,482,888

G

insulin

protein:increased expression:serum

NCBI chrNW_004624767:14,999,088...15,000,035
Ensembl chrNW_004624767:14,999,088...15,000,035

G

insulin receptor

mRNA, protein:increased expression:placenta (human)

PMID:19179458 PMID:22241286

RGD:10046048 RGD:2307336

NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184

G

inositol 1,4,5-trisphosphate receptor type 1

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624773:14,856,803...15,193,173
Ensembl chrNW_004624773:14,856,804...15,193,168

G

inositol 1,4,5-trisphosphate receptor type 2

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624752:12,360,796...12,820,042
Ensembl chrNW_004624752:12,360,740...12,822,287

G

inositol 1,4,5-trisphosphate receptor type 3

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624754:23,228,690...23,281,552
Ensembl chrNW_004624754:23,229,281...23,281,621

G

leptin

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

PMID:19269197 PMID:20421132

NCBI chrNW_004624783:7,708,820...7,721,610
Ensembl chrNW_004624783:7,708,588...7,721,727

G

leptin receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624742:29,221,742...29,313,273
Ensembl chrNW_004624742:29,223,392...29,337,049

G

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

mRNA:increased expression:placenta (human)

NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657

G

aromatase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624731:9,053,644...9,100,212
Ensembl chrNW_004624731:9,053,803...9,100,212

G

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

mRNA:increased expression:placenta (human)

NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425

G

vitamin D 25-hydroxylase

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624766:6,667,662...6,678,045
Ensembl chrNW_004624766:6,667,234...6,677,992

G

mannose binding lectin 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297

G

menin 1

NCBI chrNW_004624767:21,579,084...21,585,380
Ensembl chrNW_004624767:21,579,103...21,585,373

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995

G

8-oxoguanine DNA glycosylase

mRNA:increased expression:placenta (human)

NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196

G

plasminogen activator, tissue type

NCBI chrNW_004624780:1,014,429...1,063,636
Ensembl chrNW_004624780:1,028,085...1,063,649

G

retinol binding protein 4

protein:increased expression:blood serum (human)

NCBI chrNW_004624737:4,795,054...4,800,830
Ensembl chrNW_004624737:4,791,628...4,800,989

G

resistin

protein:increased expression:serum

NCBI chrNW_004624828:735,562...737,166
Ensembl chrNW_004624828:735,503...737,166

G

ryanodine receptor 1

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314

G

ryanodine receptor 2

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624775:12,954,653...13,650,449
Ensembl chrNW_004624775:12,956,042...13,419,381

G

ryanodine receptor 3

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624804:467,207...1,030,873
Ensembl chrNW_004624804:467,295...1,030,212

G

S100 calcium binding protein G

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624829:1,402,296...1,403,794
Ensembl chrNW_004624829:1,402,443...1,403,795

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624766:22,199,741...22,233,933
Ensembl chrNW_004624766:22,199,601...22,233,933

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:23956348 PMID:30738174 PMID:34175429

NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367

G

serine and arginine repetitive matrix 1

protein:increased glycation:placenta (human)

NCBI chrNW_004624764:9,010,440...9,043,277
Ensembl chrNW_004624764:9,010,499...9,042,579

G

transcription factor 7 like 2

susceptibility

DNA:SNP (human)

NCBI chrNW_004624737:33,341,574...33,526,814
Ensembl chrNW_004624737:33,341,029...33,526,928

G

transient receptor potential cation channel subfamily V member 6

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624800:12,074,997...12,090,141
Ensembl chrNW_004624800:12,074,999...12,090,049

G

vitamin D receptor

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624754:24,758,055...24,764,723

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial chaperone BCS1

ClinVar Annotator: match by term: GRACILE syndrome

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

NCBI chrNW_004624823:6,392,959...6,397,419
Ensembl chrNW_004624823:6,392,959...6,396,854

Greenberg dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin B receptor

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

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

NCBI chrNW_004624835:6,469,677...6,489,790

Habitual Abortions

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A5

susceptibility

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

NCBI chrNW_004624777:1,921,354...1,969,772
Ensembl chrNW_004624777:1,919,602...1,970,059

G

apolipoprotein E

NCBI chrNW_004624907:1,752,322...1,755,308

G

acid sensing ion channel subunit family member 5

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

NCBI chrNW_004624848:2,421,380...2,448,626
Ensembl chrNW_004624848:2,421,378...2,448,550

G

chromobox 3

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004624739:4,331,948...4,342,353
Ensembl chrNW_004624739:4,332,975...4,343,155

G

coiled-coil domain containing 68

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004624792:375,934...541,040
Ensembl chrNW_004624792:378,711...446,932

G

cyclin B3

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

NCBI chrNW_004624893:1,775,726...1,861,925
Ensembl chrNW_004624893:1,788,915...1,862,015

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624802:12,076,443...12,082,608
Ensembl chrNW_004624802:12,076,443...12,082,630

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885

G

centromere protein H

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004624905:71,005...97,343
Ensembl chrNW_004624905:70,373...97,343

G

cAMP responsive element binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624739:1,781,424...2,201,931
Ensembl chrNW_004624739:1,782,598...2,198,283

G

coagulation factor II, thrombin

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

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

NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958

G

coagulation factor V

susceptibility

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

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

NCBI chrNW_004624826:7,438,632...7,507,322
Ensembl chrNW_004624826:7,438,682...7,507,012

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Recurrent spontaneous abortion

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

NCBI chrNW_004624767:15,252,961...15,613,373
Ensembl chrNW_004624767:15,252,950...15,613,562

G

methylenetetrahydrofolate reductase

no_association

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

PMID:19906129 PMID:22047507 PMID:22882325

RGD:10449404 RGD:10449411 RGD:10449415

NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168

G

PIF1 5'-to-3' DNA helicase

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004624781:7,821,125...7,838,189
Ensembl chrNW_004624781:7,821,683...7,827,692

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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

NCBI chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324

G

polo like kinase 1

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004624782:8,811,593...8,823,060
Ensembl chrNW_004624782:8,811,616...8,826,749

G

REX4 homolog, 3'-5' exonuclease

ClinVar Annotator: match by term: Recurrent spontaneous abortion

NCBI chrNW_004624760:1,851,008...1,861,370
Ensembl chrNW_004624760:1,851,877...1,859,387

G

synaptonemal complex protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624750:6,345,112...6,358,724
Ensembl chrNW_004624750:6,349,400...6,358,180

G

thrombomodulin

susceptibility

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

NCBI chrNW_004624741:22,880,481...22,883,962

HELLP syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

protein:decreased activity:plasma (human)

NCBI chrNW_004624760:1,865,474...1,889,394
Ensembl chrNW_004624760:1,865,376...1,889,203

G

alpha hemoglobin stabilizing protein

mRNA:decreased expression:placenta (human)

NCBI chrNW_004624782:14,505,300...14,506,221
Ensembl chrNW_004624782:14,504,258...14,506,309

G

CD40 ligand

protein:increased expression:blood platelet (human)

NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338

G

erb-b2 receptor tyrosine kinase 2

NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602

G

Fas cell surface death receptor

susceptibility

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

PMID:28501275 PMID:30066360

RGD:14700669 RGD:14700673

NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848

G

Fas ligand

susceptibility

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

PMID:28501275 PMID:30066360

RGD:14700669 RGD:14700673

NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825

hemolytic disease of the fetus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythroblast membrane associated protein (Scianna blood group)

ClinVar Annotator: match by term: Radin blood group

NCBI chrNW_004624892:2,053,670...2,072,647

G

Fc fragment of IgG receptor IIa

DNA:polymorphism: :

NCBI chrNW_004624826:23,930...34,735

G

Kell metallo-endopeptidase (Kell blood group)

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

PMID:7849312 PMID:8652402 PMID:25741868

NCBI chrNW_004624800:11,871,226...11,892,584
Ensembl chrNW_004624800:11,870,759...11,894,190

G

solute carrier family 14 member 1 (Kidd blood group)

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

NCBI chrNW_004624778:9,397,773...9,419,604
Ensembl chrNW_004624778:9,403,405...9,419,841

G

solute carrier family 29 member 1 (Augustine blood group)

ClinVar Annotator: match by term: Fetal Erythroblastosis

NCBI chrNW_004624754:15,623,960...15,636,377
Ensembl chrNW_004624754:15,624,429...15,632,996

Hoyeraal Hreidarsson Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

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

NCBI chrNW_004624963:468,673...479,317
Ensembl chrNW_004624963:469,408...479,207

G

protection of telomeres 1

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

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

NCBI chrNW_004624783:11,138,222...11,223,329
Ensembl chrNW_004624783:11,138,303...11,223,044

G

regulator of telomere elongation helicase 1

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

NCBI chrNW_004624741:29,303,844...29,344,123
Ensembl chrNW_004624741:29,304,427...29,343,842

G

telomerase reverse transcriptase

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

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

NCBI chrNW_004624751:624,569...647,198

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:25741868 PMID:28492532

NCBI chrNW_004624820:8,262,171...8,265,275
Ensembl chrNW_004624820:8,262,595...8,311,872

Hydatidiform Mole

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein hormones, alpha polypeptide

protein:increased expression:serum

NCBI chrNW_004624799:7,249,502...7,265,662
Ensembl chrNW_004624799:7,249,586...7,265,999

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

NCBI chrNW_004624795:407,228...435,578
Ensembl chrNW_004624795:407,598...438,734

G

mutL homolog 1

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

NCBI chrNW_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255

G

mutS homolog 2

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

NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881

Hydatidiform Mole, Invasive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 2

protein:decreased expression:mononuclear cytotrophoblast cell

NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704

Hydatidiform Mole, Recurrent, 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

meiotic double-stranded break formation protein 1

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

PMID:25741868 PMID:30388401

NCBI chrNW_004624752:6,885,606...6,958,109

Hydrops Fetalis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 1, skeletal muscle

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

NCBI chrNW_004624775:19,650,923...19,653,707
Ensembl chrNW_004624775:19,650,822...19,654,730

G

albumin

disease_progression

NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624

G

ankyrin repeat and sterile alpha motif domain containing 3

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

NCBI chrNW_004624824:2,478,608...2,507,287
Ensembl chrNW_004624824:2,478,608...2,505,257

G

AT-rich interaction domain 1A

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

NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634

G

collagen and calcium binding EGF domains 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624792:4,863,978...5,146,907
Ensembl chrNW_004624792:4,867,858...5,146,839

G

cholinergic receptor nicotinic alpha 1 subunit

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

NCBI chrNW_004624787:11,933,927...11,950,017
Ensembl chrNW_004624787:11,934,433...11,950,005

G

cathepsin A

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

NCBI chrNW_004624790:8,686,027...8,692,119
Ensembl chrNW_004624790:8,686,027...8,691,898

G

chromosome unknown C1orf105 homolog

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

PMID:25741868 PMID:26036949

NCBI chrNW_004624771:9,195,036...9,228,238

G

24-dehydrocholesterol reductase

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

NCBI chrNW_004624862:4,995,836...5,022,395
Ensembl chrNW_004624862:4,995,720...5,020,850

G

dynein axonemal heavy chain 9

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

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

NCBI chrNW_004624786:14,031,785...14,411,469
Ensembl chrNW_004624786:14,031,718...14,411,533

G

EH domain binding protein 1 like 1

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

NCBI chrNW_004624767:20,800,254...20,821,165

G

FAT atypical cadherin 4

ClinVar Annotator: match by term: Hydrops fetalis

PMID:25741868 PMID:28492532

NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980

G

Fc receptor like 4

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

NCBI chrNW_004624794:3,167,263...3,190,100
Ensembl chrNW_004624794:3,167,217...3,191,770

G

flap structure-specific endonuclease 1

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

NCBI chrNW_004624926:608,874...613,487
Ensembl chrNW_004624926:608,874...612,995

G

forkhead box C2

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

NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085

G

forkhead box P3

ClinVar Annotator: match by term: Hydrops fetalis

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

NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679

G

frizzled class receptor 6

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

PMID:25741868 PMID:26036949

NCBI chrNW_004624763:19,861,837...19,888,626

G

polypeptide N-acetylgalactosaminyltransferase 14

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

PMID:25741868 PMID:26036949

NCBI chrNW_004624738:12,731,793...12,942,855
Ensembl chrNW_004624738:12,730,406...12,942,866

G

glucuronidase beta

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

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

NCBI chrNW_004624740:8,390,096...8,401,063
Ensembl chrNW_004624740:8,390,197...8,401,387

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Fetal edema

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

NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653

G

Janus kinase 3

ClinVar Annotator: match by term: Fetal edema

PMID:25741868 PMID:28492532

NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879

G

kinesin family member 19

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

NCBI chrNW_004624801:4,287,613...4,319,212
Ensembl chrNW_004624801:4,287,526...4,319,139

G

KRAS proto-oncogene, GTPase

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

PMID:24549645 PMID:25741868

NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Fetal edema

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

NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Fetal edema

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

NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564

G

molybdenum cofactor synthesis 3

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

NCBI chrNW_004624790:4,793,371...4,798,156
Ensembl chrNW_004624790:4,796,765...4,798,153

G

myosin binding protein H like

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

NCBI chrNW_004624772:5,022,255...5,042,891
Ensembl chrNW_004624772:5,024,338...5,042,234

G

myosin XVIIIA

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chrNW_004624786:1,626,555...1,726,204
Ensembl chrNW_004624786:1,629,949...1,715,031

G

myomesin 1

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

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

NCBI chrNW_004624770:13,239,572...13,356,041
Ensembl chrNW_004624770:13,239,723...13,355,954

G

myelin regulatory factor

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

NCBI chrNW_004624926:615,991...636,167
Ensembl chrNW_004624926:617,303...636,080

G

nebulin

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

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

NCBI chrNW_004624866:5,395,080...5,610,128
Ensembl chrNW_004624866:5,393,721...5,609,635

G

neuraminidase 1

ClinVar Annotator: match by term: Fetal edema

NCBI chrNW_004624754:24,382,509...24,386,410
Ensembl chrNW_004624754:24,382,467...24,387,874

G

nuclear receptor binding SET domain protein 1

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

NCBI chrNW_004624733:12,781,693...12,929,861
Ensembl chrNW_004624733:12,786,347...12,927,980

G

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

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

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

NCBI chrNW_004624746:821,651...871,481
Ensembl chrNW_004624746:821,726...871,481

G

phosphatidylinositol glycan anchor biosynthesis class C

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

PMID:25741868 PMID:26036949

NCBI chrNW_004624771:9,234,218...9,236,991
Ensembl chrNW_004624771:9,234,242...9,236,987

G

pre-mRNA processing factor 19

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

NCBI chrNW_004624926:268,965...274,634
Ensembl chrNW_004624926:266,159...274,529

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Fetal edema

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

NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670

G

receptor associated protein of the synapse

ClinVar Annotator: match by term: Hydrops fetalis

PMID:10449659 PMID:25741868 PMID:31680349

NCBI chrNW_004624767:1,350,820...1,358,107
Ensembl chrNW_004624767:1,351,370...1,358,187

G

Ras like without CAAX 1

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

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

NCBI chrNW_004624885:1,275,765...1,284,613

G

Rho associated coiled-coil containing protein kinase 2

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

NCBI chrNW_004624865:4,461,200...4,591,309
Ensembl chrNW_004624865:4,461,215...4,588,836

G

ryanodine receptor 1

ClinVar Annotator: match by term: Hydrops fetalis

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

NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314

G

ryanodine receptor 3

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chrNW_004624804:467,207...1,030,873
Ensembl chrNW_004624804:467,295...1,030,212

G

SHOC2 leucine rich repeat scaffold protein

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

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

NCBI chrNW_004624737:35,318,263...35,401,787
Ensembl chrNW_004624737:35,319,767...35,401,044

G

SUZ12 polycomb repressive complex 2 subunit

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

NCBI chrNW_004624875:4,425,486...4,477,338
Ensembl chrNW_004624875:4,425,418...4,477,909

G

SVOP like

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

NCBI chrNW_004624765:19,084,906...19,142,849
Ensembl chrNW_004624765:19,084,941...19,147,825

G

thrombospondin type 1 domain containing 1

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

PMID:25741868 PMID:26036949 PMID:28749478

NCBI chrNW_004624748:1,843,361...1,875,748
Ensembl chrNW_004624748:1,846,249...1,875,156

G

ubinuclein 1

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

NCBI chrNW_004624824:2,693,270...2,720,305
Ensembl chrNW_004624824:2,693,403...2,720,305

G

vacuolar protein sorting 13 homolog D

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

NCBI chrNW_004624818:632,276...885,450
Ensembl chrNW_004624818:632,278...885,445

HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucyl-tRNA synthetase 2, mitochondrial

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

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

NCBI chrNW_004624730:75,228,638...75,335,045
Ensembl chrNW_004624730:75,228,316...75,335,052

Hyperemesis Gravidarum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth differentiation factor 15

susceptibility

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

PMID:35218128 PMID:38092039

NCBI chrNW_004624908:1,633,927...1,636,242
Ensembl chrNW_004624908:1,634,174...1,636,242

IMAGe syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1C

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

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

NCBI chrNW_004624767:15,642,991...15,645,648
Ensembl chrNW_004624767:15,642,012...15,645,664

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 chrNW_004624747:28,024,230...28,068,390
Ensembl chrNW_004624747:28,024,975...28,068,344

intrahepatic cholestasis of pregnancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 8B1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624792:3,154,512...3,287,681
Ensembl chrNW_004624792:3,156,367...3,287,751

G

histone deacetylase 3

severity

NCBI chrNW_004624774:845,970...864,080
Ensembl chrNW_004624774:845,358...863,809

G

interleukin 18

severity

NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063

intrahepatic cholestasis of pregnancy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 8B1

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

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

NCBI chrNW_004624792:3,154,512...3,287,681
Ensembl chrNW_004624792:3,156,367...3,287,751

intrahepatic cholestasis of pregnancy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 11

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

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

NCBI chrNW_004624787:6,653,849...6,733,058
Ensembl chrNW_004624787:6,650,772...6,733,195

Kniest Like Dysplasia Lethal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate proteoglycan 2

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

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

NCBI chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130

G

low density lipoprotein receptor class A domain containing 2

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

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

NCBI chrNW_004624764:6,631,231...6,639,010

Lymphatic Malformation 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MyoD family inhibitor domain containing

ClinVar Annotator: match by term: Lymphatic malformation 12

PMID:25741868 PMID:35235341

NCBI chrNW_004624827:4,499,655...4,586,301
Ensembl chrNW_004624827:4,499,287...4,585,771

Lymphatic Malformation 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thrombospondin type 1 domain containing 1

ClinVar Annotator: match by term: Lymphatic malformation 13

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

NCBI chrNW_004624748:1,843,361...1,875,748
Ensembl chrNW_004624748:1,846,249...1,875,156

Lymphatic Malformation 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcitonin receptor like receptor

ClinVar Annotator: match by term: Lymphatic malformation 8

NCBI chrNW_004624899:2,487,261...2,593,304
Ensembl chrNW_004624899:2,487,225...2,594,780

mastitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946

G

toll like receptor 4

mRNA,protein:increased expression:mammary gland:

NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120

Maternal Phenylketonuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phenylalanine hydroxylase

NCBI chrNW_004624750:5,527,720...5,598,173
Ensembl chrNW_004624750:5,527,638...5,601,964

G

phosphoserine phosphatase

NCBI chrNW_004624740:8,212,051...8,233,358
Ensembl chrNW_004624740:8,213,574...8,226,224

meconium aspiration syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

mRNA:increased expression:lung

NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577

G

angiotensin II receptor type 2

treatment

NCBI chrNW_004624967:327,627...332,000
Ensembl chrNW_004624967:329,284...330,372

G

activating transcription factor 2

NCBI chrNW_004624787:12,241,838...12,338,089

G

secretoglobin family 1A member 1

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

NCBI chrNW_004624926:1,029,120...1,030,250

Megaduodenum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin gamma 2, smooth muscle

ClinVar Annotator: match by term: Megacystis

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

NCBI chrNW_004624749:29,566,613...29,588,572
Ensembl chrNW_004624749:29,566,380...29,588,705

G

forkhead box F1

ClinVar Annotator: match by term: Fetal megacystis

NCBI chrNW_004624746:2,599,211...2,603,031
Ensembl chrNW_004624746:2,599,106...2,603,336

Microcephalic Osteodysplastic Primordial Dwarfism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pericentrin

ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chrNW_004624745:31,402,791...31,516,522
Ensembl chrNW_004624745:31,403,014...31,515,751

microcephalic osteodysplastic primordial dwarfism type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytoplasmic linker associated protein 1

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

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

NCBI chrNW_004624732:23,553,876...23,814,565
Ensembl chrNW_004624732:23,581,356...23,811,640

G

myosin heavy chain 11

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

PMID:25741868 PMID:28492532

NCBI chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838

microcephalic osteodysplastic primordial dwarfism type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pericentrin

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

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

NCBI chrNW_004624745:31,402,791...31,516,522
Ensembl chrNW_004624745:31,403,014...31,515,751

Microcephalic Osteodysplastic Primordial Dwarfism, Type III

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytoplasmic linker associated protein 1

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

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

NCBI chrNW_004624732:23,553,876...23,814,565
Ensembl chrNW_004624732:23,581,356...23,811,640

G

myosin heavy chain 11

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

PMID:25741868 PMID:28492532

NCBI chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838

G

nudE neurodevelopment protein 1

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

PMID:25741868 PMID:28492532

NCBI chrNW_004624782:236,715...284,200
Ensembl chrNW_004624782:236,735...268,516

mild pre-eclampsia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione peroxidase 3

protein:increased expression:plasma

NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993

Multiple Pterygium Syndrome, Lethal Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkaline phosphatase, intestinal

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chrNW_004624843:5,237,041...5,239,806

G

cholinergic receptor nicotinic alpha 1 subunit

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

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

NCBI chrNW_004624787:11,933,927...11,950,017
Ensembl chrNW_004624787:11,934,433...11,950,005

G

cholinergic receptor nicotinic delta subunit

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

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

NCBI chrNW_004624843:5,287,362...5,293,507
Ensembl chrNW_004624843:5,287,169...5,293,593

G

cholinergic receptor nicotinic gamma subunit

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

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

NCBI chrNW_004624843:5,297,025...5,301,714
Ensembl chrNW_004624843:5,297,059...5,301,699

G

DIS3 like 3'-5' exoribonuclease 2

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chrNW_004624843:4,900,810...5,196,827
Ensembl chrNW_004624843:4,901,316...5,196,827

G

serine protease 56

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chrNW_004624843:5,281,581...5,287,060
Ensembl chrNW_004624843:5,281,709...5,287,026

Neu-Laxova syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoglycerate dehydrogenase

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

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

NCBI chrNW_004624772:15,473,609...15,514,392
Ensembl chrNW_004624772:15,473,221...15,514,637

G

phosphoserine aminotransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624811:5,727,912...5,751,921
Ensembl chrNW_004624811:5,727,685...5,751,607

Nuchal Bleb, Familial

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Fetal cystic hygroma

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

NCBI chrNW_004624827:1,704,733...1,893,579

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Fetal cystic hygroma

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

NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Nuchal bleb, familial

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

NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910

oligohydramnios

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

ClinVar Annotator: match by term: Anhydramnios

PMID:25741868 PMID:35005812

NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577

G

DnaJ heat shock protein family (Hsp40) member B11

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chrNW_004624730:70,173,024...70,185,492
Ensembl chrNW_004624730:70,170,003...70,186,031

G

inverted formin 2

ClinVar Annotator: match by term: Oligohydramnios

NCBI chrNW_004624734:555,188...577,930
Ensembl chrNW_004624734:558,043...567,837

G

nephrocystin 3

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649

G

platelet derived growth factor subunit A

mRNA, protein:increased expression:lung

NCBI chrNW_004624740:26,172,808...26,191,557
Ensembl chrNW_004624740:26,169,064...26,188,866

G

platelet derived growth factor subunit B

mRNA, protein:increased expression:lung

NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593

G

platelet derived growth factor receptor alpha

mRNA:increased expression:lung

NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810

G

platelet derived growth factor receptor beta

mRNA:increased expression:lung

NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881

G

podoplanin

mRNA, protein:decreased expression:lung

NCBI chrNW_004624764:163,370...192,770

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859

G

polycystin 2, transient receptor potential cation channel

ClinVar Annotator: match by term: anhydramnios

PMID:25741868 PMID:35005812

NCBI chrNW_004624872:4,539,965...4,592,004
Ensembl chrNW_004624872:4,539,847...4,594,793

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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

PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 More...

NCBI chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324

G

transmembrane protein 67

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

PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More...

NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071

Oocyte/Zygote/Embryo Maturation Arrest 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TLE family member 6, subcortical maternal complex member

ClinVar Annotator: match by term: Preimplantation embryonic lethality 1

PMID:25741868 PMID:26537248 PMID:36271123

NCBI chrNW_004624828:6,149,869...6,157,875

Oocyte/Zygote/Embryo Maturation Arrest 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peptidyl arginine deiminase 6

ClinVar Annotator: match by term: Preimplantation embryonic lethality 2

PMID:17587491 PMID:18599511 PMID:25741868 PMID:27545678 PMID:34987164 More...

NCBI chrNW_004624764:2,904,874...2,921,186
Ensembl chrNW_004624764:2,904,384...2,921,523

Perinatal Death

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin receptor type B

NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606

G

FAM20C golgi associated secretory pathway kinase

ClinVar Annotator: match by term: Neonatal death

NCBI chrNW_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649

G

FA complementation group D2

NCBI chrNW_004624731:4,577,663...4,671,086
Ensembl chrNW_004624731:4,611,963...4,671,765

G

potassium calcium-activated channel subfamily M alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624754:10,152,635...10,885,239
Ensembl chrNW_004624754:10,153,809...10,885,079

G

laminin subunit gamma 3

ClinVar Annotator: match by term: Neonatal death

PMID:25741868 PMID:28492532 PMID:33639934

NCBI chrNW_004624760:4,759,680...4,807,720
Ensembl chrNW_004624760:4,760,351...4,807,720

G

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

ClinVar Annotator: match by term: Neonatal death

PMID:22958903 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31130284

NCBI chrNW_004624730:76,811,200...76,832,299
Ensembl chrNW_004624730:76,818,751...76,832,291

G

spindle apparatus coiled-coil protein 1

ClinVar Annotator: match by term: Neonatal death

NCBI chrNW_004624733:20,326,565...20,350,937
Ensembl chrNW_004624733:20,326,893...20,350,923

G

WD repeat domain 81

ClinVar Annotator: match by term: Neonatal death

PMID:25558065 PMID:25741868 PMID:28556411

NCBI chrNW_004624786:4,429,492...4,440,865
Ensembl chrNW_004624786:4,429,087...4,442,037

G

zinc finger protein, FOG family member 2

NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953

Perlman syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkaline phosphatase, intestinal

ClinVar Annotator: match by term: Perlman syndrome

NCBI chrNW_004624843:5,237,041...5,239,806

G

armadillo repeat containing 9

ClinVar Annotator: match by term: Perlman syndrome

NCBI chrNW_004624843:4,483,974...4,588,546
Ensembl chrNW_004624843:4,486,762...4,573,553

G

autophagy related 16 like 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chrNW_004624843:5,797,725...5,838,768
Ensembl chrNW_004624843:5,805,069...5,838,741

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7

ClinVar Annotator: match by term: Perlman syndrome

NCBI chrNW_004624843:4,603,014...4,606,757
Ensembl chrNW_004624843:4,603,181...4,605,744

G

calcium binding protein 39

ClinVar Annotator: match by term: Perlman syndrome