Fetal Diseases - 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:	Fetal Diseases	go back to main search page
Accession:	DOID:9001984	browse the term
Definition:	Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
Synonyms:	exact_synonym:	Embryopathies; Embryopathy; Fetal Disease
	primary_id:	MESH:D005315

show annotations for term's descendants Sort by:
Rat (383) Mouse (382) Human (8245) Chinchilla (348) Bonobo (368) Dog (370) Squirrel (352) Pig (362) Green Monkey (364) Naked Mole-rat (345) All
Genes (382) Strains (1)

Fetal Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of inhibitor of nuclear factor kappa B kinase complex

CTD Direct Evidence: marker/mechanism

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

NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065

G

nitric oxide synthase 2

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

protein kinase C, beta

associated with Diabetes Mellitus, Experimental;protein:increased expression

RGD

NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536

G

serine protease 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815

Bowen-Conradi syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EMG1 N1-specific pseudouridine methyltransferase

OMIM:211180
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bowen-Conradi syndrome

OMIM
MouseDO
CTD
ClinVar

PMID:19463982 PMID:25741868 PMID:28492532

NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540

central conducting lymphatic anomaly

term browser

Symbol

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 chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314

G

MyoD family inhibitor domain containing

OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY

MouseDO
ClinVar

PMID:25741868 PMID:35235341

NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161

G

solute carrier family 12, member 9

ClinVar Annotator: match by term: Lymphatic malformation 7

PMID:25741868 PMID:28492532

NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877

chorioamnionitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end product-specific receptor

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

Fas cell surface death receptor

protein:increased expression:villous trophoblast

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 6

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

RGD

PMID:15547537 PMID:25687566 PMID:25011638

RGD:5128667, RGD:12792243, RGD:12791291

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

lymphotoxin alpha

severity

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

RGD

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

mannose binding lectin 2

susceptibility

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

RGD

NCBI chr 1:228,016,439...228,024,736

G

matrix metallopeptidase 9

severity

protein:increased expression:respiratory system fluid/secretion

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

transforming growth factor, beta 1

severity

protein:increased expression:amniotic fluid

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

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)

RGD

PMID:15128916 PMID:15128916

RGD:12904055, RGD:12904055

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

triggering receptor expressed on myeloid cells 1

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

RGD

NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203

chromosome 17q11.2 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ring finger protein 135

CTD Direct Evidence: marker/mechanism
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 chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804

dehydrated hereditary stomatocytosis 1

term browser

Symbol

Object Name

Qualifiers

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 chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340

G

piezo-type mechanosensitive ion channel component 1

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

OMIM
ClinVar
CTD

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

NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501

Diabetic Embryopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas associated via death domain

RGD

NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653

fetal akinesia deformation sequence syndrome

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: Fetal akinesia deformation sequence

PMID:25741868 PMID:33060286

NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742

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 chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386

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 chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932

G

proteoglycan 4

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

PMID:25741868 PMID:31680123

NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119

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 chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373

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 chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812

G

vacuolar protein sorting 13 homolog D

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891

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 chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680

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 chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742

G

adducin 1

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

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

NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182

G

adenylosuccinate synthase 1

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

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

NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998

G

aldehyde dehydrogenase 5 family, member A1

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

PMID:25741868 PMID:31680123

NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677

G

ARF GTPase activating protein 2

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455

G

N-acylsphingosine amidohydrolase 1

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

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

NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233

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 chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272

G

assembly factor for spindle microtubules

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

PMID:25741868 PMID:31680123

NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755

G

ATPase plasma membrane Ca2+ transporting 3

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

PMID:25741868 PMID:31680123

NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775

G

apoptosis and caspase activation inhibitor

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

PMID:25741868 PMID:31680123

NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634

G

bridge-like lipid transfer protein family member 1

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

PMID:25741868 PMID:31680123

NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695

G

cholinergic receptor nicotinic delta subunit

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

PMID:25741868 PMID:31680123

NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833

G

contactin associated protein 1

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

PMID:25741868 PMID:31680123

NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611

G

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274

G

damage specific DNA binding protein 2

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631

G

docking protein 7

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

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

NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386

G

DEAQ box RNA-dependent ATPase 1

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

PMID:25741868 PMID:31680123

NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590

G

dynein cytoplasmic 1 heavy chain 1

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883

G

glutamyl-tRNA synthetase 2, mitochondrial

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

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836

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 chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060

G

fibulin 1

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

PMID:25741868 PMID:31680123

NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075

G

fibrillin 2

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

NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976

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 chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210

G

GCN1 activator of EIF2AK4

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

PMID:25741868 PMID:31680123

NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555

G

GDNF family receptor alpha 4

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

PMID:25741868 PMID:31680123

NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329

G

gliomedin

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

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

NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196

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 chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693

G

HGF activator

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

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

NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278

G

huntingtin

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

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

NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070

G

IQ motif and Sec7 domain ArfGEF 3

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

PMID:25741868 PMID:31680123

NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310

G

leucine-rich repeat LGI family, member 4

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

PMID:25741868 PMID:31680123

NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874

G

LDL receptor related protein 4

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593

G

MAP-kinase activating death domain

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701

G

membrane associated guanylate kinase, WW and PDZ domain containing 3

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

PMID:25741868 PMID:31680123

NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735

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 chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377

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 chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932

G

myosin binding protein C3

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

alpha-N-acetylgalactosaminidase

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

PMID:25741868 PMID:31680123

NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315

G

sodium leak channel, non-selective

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

PMID:25741868 PMID:27214504 PMID:31680123

NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001

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 chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

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 chr14:76,081,313...76,102,454
Ensembl chr14:76,080,793...76,102,453

G

nuclear receptor subfamily 1, group H, member 3

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722

G

protein kinase C and casein kinase substrate in neurons 3

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811

G

piezo-type mechanosensitive ion channel component 2

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

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

NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216

G

proteoglycan 4

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:31680123

NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119

G

prickle planar cell polarity protein 1

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

PMID:25741868 PMID:31680123

NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113

G

proteasome 26S subunit, ATPase 3

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358

G

receptor-associated protein of the synapse

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

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

NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373

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 chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596

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 chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152

G

ryanodine receptor 1

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

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

NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812

G

ryanodine receptor 3

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

PMID:25741868 PMID:31680123

NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961

G

sodium voltage-gated channel alpha subunit 4

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

PMID:25741868 PMID:31680123

NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545

G

sodium voltage-gated channel alpha subunit 5

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

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

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

sodium voltage-gated channel alpha subunit 8

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

PMID:25741868 PMID:31680123

NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292

G

SET binding protein 1

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

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

NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556

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 chr14:76,176,097...76,213,300
Ensembl chr14:76,176,101...76,213,251

G

solute carrier family 39 member 13

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226

G

sperm associated antigen 16

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

PMID:25741868 PMID:31680123

NCBI chr 9:71,333,005...72,252,772
Ensembl chr 9:71,332,992...72,252,708

G

Spi-1 proto-oncogene

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

PMID:17686188 PMID:28492532

NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393

G

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

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

NCBI chr 5:72,811,200...72,988,185
Ensembl chr 5:72,811,410...72,988,525

G

thymopoietin

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

PMID:25741868 PMID:31680123

NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727

G

thioredoxin 1

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

NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629

G

thioredoxin domain containing 8

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

NCBI chr 5:72,749,708...72,785,858
Ensembl chr 5:72,749,725...72,785,931

G

unc-50 inner nuclear membrane RNA binding protein

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

PMID:25741868 PMID:31680123

NCBI chr 9:39,664,944...39,674,369
Ensembl chr 9:39,664,971...39,672,890

G

vacuolar protein sorting 13 homolog D

ClinVar Annotator: match by term: Fetal akinesia sequence

PMID:25741868 PMID:28492532 PMID:31680123

NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891

G

zinc finger E-box binding homeobox 2

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

PMID:25741868 PMID:31680123

NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157

fetal akinesia deformation sequence syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

receptor-associated protein of the synapse

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

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

NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373

fetal akinesia deformation sequence syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dedicator of cytokinesis 7

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

NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813

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 chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386

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 chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257

G

rabaptin, RAB GTPase binding effector protein 1

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

NCBI chr10:55,566,156...55,667,595
Ensembl chr10:55,566,185...55,665,973

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 chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300

G

apolipoprotein E

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

BPI fold containing family A, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:142,627,810...142,633,553
Ensembl chr 3:142,627,810...142,633,552

G

complement C3

protein:increased activity:blood

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C5

protein:increased activity:blood

RGD

NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994

G

catalase

CTD Direct Evidence: therapeutic

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

corticotropin releasing hormone receptor 1

sexual_dimorphism

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

RGD

NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481

G

iodothyronine deiodinase 3

treatment

RGD

NCBI chr 6:129,285,747...129,287,608
Ensembl chr 6:129,285,749...129,286,660

G

DNA methyltransferase 1

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

RGD

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 beta

mRNA:increased expression:pituitary gland (rat)

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

dopamine receptor D2

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

RGD

PMID:26509893 PMID:28710248

RGD:11344152, RGD:401960105

NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875

G

euchromatic histone lysine methyltransferase 2

mRNA:increased expression:pituitary gland (rat)

RGD

NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547

G

gamma-aminobutyric acid type A receptor subunit beta 3

treatment
sexual_dimorphism

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

RGD

PMID:23763370 PMID:30312858

RGD:13432044, RGD:405866345

NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961

G

gamma-aminobutyric acid type A receptor subunit gamma 2

mRNA:increased expression:posterior hypothalamic region (rat)

RGD

NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

RGD

PMID:22037411 PMID:23763370

RGD:13210751, RGD:13432044

NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279

G

histone deacetylase 2

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

RGD

NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609

G

histone deacetylase 4

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

RGD

NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164

G

hydroxysteroid 11-beta dehydrogenase 2

protein:increased expression:placenta (rat)

RGD

NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899

G

insulin-like growth factor 1

mRNA:decreased expression:cerebellum (rat)

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 1 receptor

protein:decreased activity:cerebellum (rat)

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

methionine adenosyltransferase 2A

mRNA:decreased expression:brain (rat)

RGD

NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493

G

methyl CpG binding protein 2

treatment

mRNA:increased expression:pituitary gland (rat)

RGD

PMID:26509893 PMID:23763370

RGD:11344152, RGD:13432044

NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689

G

microRNA 326

miRNA:increases expression:pituitary gland (rat)

RGD

NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123

G

microRNA 9

miRNA:increased expression:pituitary gland (rat)

RGD

NCBI chr 9:1,080,274...1,080,383
Ensembl chr 9:1,080,274...1,080,383

G

5-methyltetrahydrofolate-homocysteine methyltransferase

mRNA:decreased expression:brain (rat)

RGD

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

nitric oxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945

G

nuclear receptor subfamily 3, group C, member 2

sexual_dimorphism

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

RGD

NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885

G

opioid receptor, kappa 1

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

RGD

NCBI chr 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823

G

opioid related nociceptin receptor 1

mRNA:decreased expression:ventral tegmental area

RGD

NCBI chr 3:168,831,934...168,839,920
Ensembl chr 3:168,834,003...168,839,920

G

prodynorphin

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

RGD

NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334

G

period circadian regulator 2

treatment

RGD

NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459

G

prepronociceptin

mRNA:increased expression:nucleus accumbens

RGD

NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867

G

proopiomelanocortin

treatment

RGD

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

prolactin

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

RGD

PMID:26509893 PMID:28710248

RGD:11344152, RGD:401960105

NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062

G

phosphatase and tensin homolog

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

RGD

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

RAS protein-specific guanine nucleotide-releasing factor 1

treatment

RGD

NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269

G

ribosomal protein S6 kinase A1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272

G

SET domain containing 7, histone lysine methyltransferase

mRNA:decreased expression:pituitary gland (rat)

RGD

NCBI chr 2:135,562,683...135,605,468
Ensembl chr 2:135,562,683...135,605,468

G

solute carrier family 25 member 12

treatment

RGD

NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100

G

solute carrier family 6 member 4

mRNA:decreased expression:brain (rat)

RGD

NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384

G

toll-like receptor 4

ameliorates

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

ubiquitin protein ligase E3A

treatment

RGD

NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250

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

RGD

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

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

OMIM:613630
ClinVar Annotator: match by term: Cocoon syndrome

OMIM
MouseDO
ClinVar

NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065

Fetal Growth Retardation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

mRNA:increased expression:placenta

RGD

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

angiotensin I converting enzyme

mRNA:increased expression:kidney (rat)

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

adiponectin, C1Q and collagen domain containing

treatment

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adiponectin receptor 1

treatment

RGD

NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241

G

adiponectin receptor 2

treatment

RGD

NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355

G

angiotensinogen

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

CTD
RGD

PMID:17537837 PMID:20530295 PMID:26270574

RGD:13432363, RGD:11538508

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

aldehyde dehydrogenase 18 family, member A1

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

RGD

NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890

G

anaphase promoting complex subunit 2

protein:increased expression:serum (human)

RGD

NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178

G

apolipoprotein E

mRNA:increased expression:adrenal gland (rat)

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

apolipoprotein H

RGD

NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329

G

arginase 1

RNA:increased expression:thoracic aorta:

RGD

NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422

G

ATP synthase F1 subunit alpha

protein:increased expression:retroperitoneal fat pad (rat)

RGD

NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794

G

ATP synthase F1 subunit beta

protein:decreased expression:liver (rat)

RGD

NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273

G

BCL2 associated X, apoptosis regulator

treatment

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

treatment

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

bone morphogenetic protein 4

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

calcium voltage-gated channel subunit alpha1 C

protein:decreased expression:pancreas (rat)

RGD

NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648

G

calcium voltage-gated channel subunit alpha1 D

protein:decreased expression:pancreas (rat)

RGD

NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

RGD

NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861

G

caspase 3

treatment

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

collagen type II alpha 1 chain

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

RGD

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

catechol-O-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642

G

carbamoyl-phosphate synthase 1

RGD

NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033

G

cystathionine gamma-lyase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234

G

cytochrome P450, family 11, subfamily a, polypeptide 1

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

RGD

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

G

cytochrome P450, family 11, subfamily b, polypeptide 1

protein:decreased expression:fetus, adrenal gland (rat)

RGD

NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278

G

cytochrome P450, family 11, subfamily b, polypeptide 2

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

RGD

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

G

cytochrome P450, family 1, subfamily a, polypeptide 1

mRNA:increased expression:placenta

RGD

PMID:16225763 PMID:17706398 PMID:18442069

RGD:2306659, RGD:11576317, RGD:11576311

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

DEAD-box helicase 23

ClinVar Annotator: match by term: Intrauterine growth retardation

PMID:25741868 PMID:34050707

NCBI chr 7:129,797,620...129,814,909
Ensembl chr 7:129,797,614...129,814,949

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

delta like non-canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522

G

DNA methyltransferase 1

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

RGD

PMID:16380407 PMID:24717552 PMID:12869365

RGD:9588242, RGD:9590296, RGD:9588619

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 beta

mRNA:increased expression:adrenal gland:

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

dual specificity phosphatase 1

RGD

NCBI chr10:16,680,478...16,683,275

G

dual specificity phosphatase 5

RGD

NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818

G

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Intrauterine growth restriction

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

NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183

G

ETS transcription factor ELK1

mRNA:decreased expression:placenta

RGD

NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713

G

estrogen-related receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397

G

Fas cell surface death receptor

susceptibility

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

RGD

PMID:15695771 PMID:16169656

RGD:12903973, RGD:12904025

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

severity

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

RGD

PMID:23582102 PMID:16169656

RGD:12903972, RGD:12904025

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

RGD

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

FTO, alpha-ketoglutarate dependent dioxygenase

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

RGD

PMID:25054679 PMID:25054679

RGD:329955538, RGD:329955538

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

glucose-6-phosphatase catalytic subunit 1

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

RGD

PMID:15448092 PMID:23744881

RGD:2315963, RGD:14695550

NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804

G

glial cell derived neurotrophic factor

mRNA, protein:decreased expression:kidney

RGD

NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209

G

ghrelin and obestatin prepropeptide

disease_progression

RGD

NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621

G

growth hormone secretagogue receptor

disease_progression

RGD

NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865

G

glutamate dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957

G

glutamate ionotropic receptor AMPA type subunit 1

protein:decreased expression:cerebral cortical neuron (rat)

RGD

NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283

G

glutamate ionotropic receptor NMDA type subunit 2A

protein:decreased expression:cerebral cortical neuron (rat)

RGD

NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637

G

glutamate ionotropic receptor NMDA type subunit 2B

treatment

RGD

NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion:: (human)

RGD

PMID:22310945 PMID:19147266

RGD:10450795, RGD:12792219

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion, haplotype:: (human)
DNA:deletion:: (human)

RGD

PMID:22310945 PMID:19147266

RGD:10450795, RGD:12792219

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

mRNA:decreased expression

RGD

NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869

G

histone deacetylase 1

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

RGD

PMID:18464933 PMID:24717552 PMID:16380407

RGD:2311214, RGD:9590296, RGD:9588242

NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111

G

histone deacetylase 2

mRNA:increased expression:adrenal gland:

RGD

NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609

G

hepatocyte nuclear factor 4, alpha

DNA:altered methylation:prompter:

RGD

NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320

G

hydroxysteroid 11-beta dehydrogenase 2

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

RGD

NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899

G

insulin-like growth factor 1

treatment
onset

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

RGD

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

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

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 1 receptor

onset

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

CTD
RGD

PMID:14657428 PMID:14657428 PMID:12536576 PMID:24239160

RGD:1624299, RGD:12904724, RGD:12904720

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor 2

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

CTD
RGD

PMID:12087403 PMID:16040806 PMID:1408464

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

insulin-like growth factor 2 receptor

mRNA:increased expresssion:fetus:

RGD

NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501

G

insulin-like growth factor binding protein 3

treatment

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

RGD

PMID:16923367 PMID:19217707 PMID:19591553 PMID:21823995 PMID:21924014 More...

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

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

interleukin 1 alpha

mRNA:increased expression:placenta

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

insulin receptor substrate 1

mRNA,protein:decreased expression:growth plate:

RGD

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

insulin receptor substrate 2

RGD

NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482

G

leptin

RGD

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

MDM2 proto-oncogene

mRNA:decreased expression:cerebrum (rat)

RGD

NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915

G

methyl CpG binding protein 2

mRNA,protein:decreased expression:hippocampus:

RGD

NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689

G

matrix metallopeptidase 2

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

CTD
RGD

PMID:28157488 PMID:17367869

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

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

RGD

PMID:22378735 PMID:18771981 PMID:25118499

RGD:12910955, RGD:12914148, RGD:12910958

NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372

G

mucin 1, cell surface associated

RGD

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

mucin 2, oligomeric mucus/gel-forming

RGD

NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756

G

mucin 4, cell surface associated

RGD

NCBI chr11:68,008,245...68,053,242

G

NFE2 like bZIP transcription factor 2

treatment

protein:decreased expression:placenta

RGD

PMID:23910525 PMID:25171874 PMID:25171874

RGD:10412716, RGD:26884462, RGD:26884462

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nitric oxide synthase 1

associated with hyperinsulinemia; protein:decreased expression:placenta

RGD

NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945

G

nitric oxide synthase 2

associated with hyperinsulinemia; protein:increased expression:placenta

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

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

CTD
RGD

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

RGD:5132592, RGD:13792602

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

nuclear receptor subfamily 3, group C, member 1

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

RGD

PMID:17272666 PMID:20388836

RGD:2308941, RGD:4892120

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

origin recognition complex, subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375

G

ornithine transcarbamylase

mRNA:altered expression:liver (rat)

RGD

NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918

G

phosphoenolpyruvate carboxykinase 1

mRNA:decreased expression:liver:

RGD

NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191

G

platelet derived growth factor subunit A

mRNA:increased expression:placenta

RGD

NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497

G

platelet derived growth factor subunit B

mRNA:increased expression:placenta

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

pancreatic and duodenal homeobox 1

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

RGD

PMID:12606515 PMID:18464933

RGD:2311220, RGD:2311214

NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064

G

proopiomelanocortin

mRNA, protein:decreased expression:hypothalamus

RGD

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

peroxisome proliferator-activated receptor gamma

mRNA:decreased expression:lung (rat)

RGD

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

PPARG coactivator 1 alpha

mRNA, protein:increased expression:liver (rat)

RGD

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

peroxiredoxin 6

protein:decreased expression:placenta

RGD

PMID:25171874 PMID:25171874

RGD:26884462, RGD:26884462

NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355

G

prostaglandin E receptor 3

mRNA, protein:increased expression:placenta (rat)

RGD

NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434

G

prostaglandin-endoperoxide synthase 2

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

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine phosphatase, non-receptor type 11

treatment

with postnatal growth restriction

RGD

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

retinol binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743

G

renin

CTD Direct Evidence: marker/mechanism

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

sterile alpha motif domain containing 9

CTD Direct Evidence: marker/mechanism

NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322

G

serpin family E member 1

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

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

SIN3 transcription regulator family member A

RGD

NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192

G

solute carrier family 2 member 1

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

RGD

PMID:11738800 PMID:9886959

RGD:730192, RGD:12879480

NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416

G

solute carrier family 2 member 2

mRNA, protein:decreased expression:liver

RGD

NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933

G

solute carrier family 2 member 3

protein:increased expression:placenta

RGD

NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472

G

solute carrier family 38, member 2

mRNA, protein:decreased expression:placenta

RGD

NCBI chr 7:127,851,267...127,863,482
Ensembl chr 7:127,851,267...127,863,436

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

sterol regulatory element binding transcription factor 1

RGD

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

G

sterol regulatory element binding factor 1, variant 2

RGD

G

steroidogenic acute regulatory protein

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

RGD

NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672

G

trefoil factor 3

RGD

NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054

G

unc-13 homolog A

RGD

NCBI chr16:18,333,910...18,381,813
Ensembl chr16:18,336,229...18,381,872

G

vitamin D receptor

mRNA,protein:decreased expression:placenta:

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Intrauterine growth restriction

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

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)

RGD

NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919

G

corticotropin releasing hormone receptor 1

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

RGD

NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481

G

corticotropin releasing hormone receptor 2

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

RGD

NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904

G

early growth response 1

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

matrix metallopeptidase 1

protein:altered expression:heart (rat)

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 13

protein:increased expression:heart (rat)

RGD

NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239

G

nitric oxide synthase 1

RGD

NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945

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;

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

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: :

RGD

PMID:17407387 PMID:19435144

RGD:12904698, RGD:12904767

NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320

G

insulin-like growth factor 1

protein:increased expression:serum:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor binding protein 3

protein:increased expression:serum:

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

lipase C, hepatic type

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

RGD

NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464

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)

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type I alpha 2 chain

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

RGD

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

monoamine oxidase A

CTD Direct Evidence: marker/mechanism

NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593

G

NPHS1 adhesion molecule, nephrin

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

RGD

NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078

G

NPHS2 stomatin family member, podocin

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

RGD

NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

G

zinc finger E-box binding homeobox 2

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

RGD

NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157

GRACILE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938

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
DNA:mutations:cds:multiple (human)

OMIM
ClinVar
RGD

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

NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017

hemolytic disease of the fetus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythroblast membrane associated protein (Scianna blood group)

ClinVar Annotator: match by term: Radin blood group

NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847

G

Fc gamma receptor 2A

DNA:polymorphism: :

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Kell metallo-endopeptidase (Kell blood group)

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

PMID:7849312 PMID:8652402 PMID:25741868

NCBI chr 4:70,568,241...70,585,666
Ensembl chr 4:70,568,243...70,585,631

G

solute carrier family 14 member 1 (Kidd blood group)

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

NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146

G

solute carrier family 29 member 1

ClinVar Annotator: match by term: Fetal Erythroblastosis

NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203

Hoyeraal Hreidarsson Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA cross-link repair 1B

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

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

NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

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

G

protection of telomeres 1

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

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

NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042

G

regulator of telomere elongation helicase 1

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

RGD

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia

PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:25741868 PMID:28492532

NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984

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 chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742

G

albumin

disease_progression

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

ankyrin repeat and sterile alpha motif domain containing 3

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

NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806

G

AT-rich interaction domain 1A

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

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

similar to human chromosome 1 open reading frame 105

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

PMID:25741868 PMID:26036949

NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322

G

collagen and calcium binding EGF domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400

G

cholinergic receptor nicotinic alpha 1 subunit

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

NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840

G

cathepsin A

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

NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215

G

24-dehydrocholesterol reductase

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

NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137

G

dynein axonemal heavy chain 14

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

NCBI chr13:93,322,653...93,540,706
Ensembl chr13:93,322,711...93,538,646

G

dynein, axonemal, heavy chain 9

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

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

NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949

G

EH domain binding protein 1-like 1

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

NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270

G

FAT atypical cadherin 4

ClinVar Annotator: match by term: Hydrops fetalis

PMID:25741868 PMID:28492532

NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707

G

flap structure-specific endonuclease 1

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

NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003

G

forkhead box C2

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

NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737

G

forkhead box P3

ClinVar Annotator: match by term: Hydrops fetalis

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

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

frizzled class receptor 6

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

PMID:25741868 PMID:26036949

NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776

G

polypeptide N-acetylgalactosaminyltransferase 14

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

PMID:25741868 PMID:26036949

NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192

G

glucuronidase, beta

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

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

NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905

G

hemoglobin alpha, adult chain 3

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

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

NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Fetal edema

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

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

Janus kinase 3

ClinVar Annotator: match by term: Fetal edema

PMID:25741868 PMID:28492532

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

kinesin family member 19

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

NCBI chr10:99,800,185...99,826,546
Ensembl chr10:99,799,400...99,826,546

G

KRAS proto-oncogene, GTPase

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

PMID:24549645 PMID:25741868

NCBI chr 4:178,185,418...178,218,484

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Fetal edema

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

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

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 chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633

G

molybdenum cofactor synthesis 3

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

NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890

G

myosin binding protein H-like

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

NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824

G

myosin XVIIIa

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chr10:62,654,218...62,755,465
Ensembl chr10:62,654,281...62,755,468

G

myomesin 1

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

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

NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344

G

myelin regulatory factor

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

NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157

G

nebulin

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

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

NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574

G

neuraminidase 1

ClinVar Annotator: match by term: Fetal edema

NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745

G

nuclear receptor binding SET domain protein 1

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

NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358

G

piezo-type mechanosensitive ion channel component 1

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

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

NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501

G

phosphatidylinositol glycan anchor biosynthesis, class C

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

PMID:25741868 PMID:26036949

NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211

G

pre-mRNA processing factor 19

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

NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Fetal edema

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

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

receptor-associated protein of the synapse

ClinVar Annotator: match by term: Hydrops fetalis

PMID:10449659 PMID:25741868 PMID:31680349

NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373

G

Ras-like without CAAX 1

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

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

NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455

G

Rho-associated coiled-coil containing protein kinase 2

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

NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031

G

ryanodine receptor 1

ClinVar Annotator: match by term: Hydrops fetalis

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

NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812

G

ryanodine receptor 3

ClinVar Annotator: match by term: Hydrops fetalis

NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961

G

serpin family A member 11

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

NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670

G

surfactant protein A1

protein:decreased expression:lung

RGD

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

SHOC2 leucine-rich repeat scaffold protein

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

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

NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337

G

SUZ12 polycomb repressive complex 2 subunit

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

NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738

G

SVOP like

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

NCBI chr 4:66,697,550...66,751,699
Ensembl chr 4:66,698,177...66,758,978

G

thrombospondin type 1 domain containing 1

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

PMID:25741868 PMID:26036949 PMID:28749478

NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504

G

ubinuclein 1

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

NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010

G

vacuolar protein sorting 13 homolog D

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

NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891

HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucyl-tRNA synthetase 2, mitochondrial

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

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

NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048

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 chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939

kernicterus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

UDP glucuronosyltransferase family 1 member A1

CTD Direct Evidence: marker/mechanism

PMID:20194756 PMID:28167773

NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465

Lymphatic Malformation 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MyoD family inhibitor domain containing

ClinVar Annotator: match by term: Lymphatic malformation 12

PMID:25741868 PMID:35235341

NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161

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 chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504

Lymphatic Malformation 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcitonin receptor like receptor

ClinVar Annotator: match by term: Lymphatic malformation 8

NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910

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

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 2

treatment

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

activating transcription factor 2

NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236

G

secretoglobin family 1A member 1

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

RGD

NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610

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 chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465

G

forkhead box F1

ClinVar Annotator: match by term: Fetal megacystis

NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738

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 chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710

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 chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146

G

myosin heavy chain 11

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

PMID:25741868 PMID:28492532

NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459

G

myosin heavy chain 7

ClinVar Annotator: match by term: Brachymelic primordial dwarfism

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

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

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
OMIM:210720
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human)
DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)

OMIM
ClinVar
MouseDO
CTD
RGD

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

RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400

NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710

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 chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146

G

myosin heavy chain 11

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

PMID:25741868 PMID:28492532

NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459

G

nudE neurodevelopment protein 1

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

PMID:25741868 PMID:28492532

NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869

Multiple Pterygium Syndrome, Lethal Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkaline phosphatase, germ cell

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836

G

alkaline phosphatase, intestinal

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877

G

alkaline phosphatase, placental

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606

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 chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840

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 chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833

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 chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482

G

DIS3-like 3'-5' exoribonuclease 2

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616

G

endothelin converting enzyme-like 1

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675

G

serine protease 56

ClinVar Annotator: match by term: Lethal multiple pterygium syndrome

NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944

G

phosphoserine aminotransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682

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 chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

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 chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633

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 chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

Perlman syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkaline phosphatase, germ cell

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836

G

alkaline phosphatase, intestinal

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877

G

alkaline phosphatase, placental

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606

G

armadillo repeat containing 9

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860

G

autophagy related 16-like 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170

G

similar to human chromosome 2 open reading frame 72

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185

G

calcium binding protein 39

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:86,463,095...86,524,544

G

cholinergic receptor nicotinic delta subunit

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833

G

cholinergic receptor nicotinic gamma subunit

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482

G

COP9 signalosome subunit 7B

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967

G

CTR9 homolog, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Predisposition to Wilms tumor

PMID:25099282 PMID:28492532

NCBI chr 1:165,137,277...165,167,303
Ensembl chr 1:165,137,215...165,167,303

G

diacylglycerol kinase, delta

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345

G

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642

G

DIS3-like 3'-5' exoribonuclease 2

ClinVar Annotator: match by term: Perlman syndrome
OMIM:267000
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More...

NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616

G

DnaJ heat shock protein family (Hsp40) member B3

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,795,542...88,796,555
Ensembl chr 9:88,795,488...88,796,560

G

endothelin converting enzyme-like 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675

G

EF-hand domain family, member D1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917

G

eukaryotic translation initiation factor 4E family member 2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,886,126...87,914,470
Ensembl chr 9:87,878,085...87,914,482

G

GRB10 interacting GYF protein 2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715

G

G protein-coupled receptor 55

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613

G

Holliday junction recognition protein

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728

G

5-hydroxytryptamine receptor 2B

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108

G

integral membrane protein 2C

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742

G

potassium inwardly-rectifying channel, subfamily J, member 13

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112

G

maestro heat-like repeat family member 2A

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607

G

nucleolin

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136

G

neuraminidase 2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,218,494...88,267,356
Ensembl chr 9:88,249,135...88,267,355

G

neuronal guanine nucleotide exchange factor

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914

G

neuromedin U receptor 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684

G

natriuretic peptide C

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251

G

phosphodiesterase 6D

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,192,989...87,237,979
Ensembl chr 9:87,192,983...87,237,969

G

serine protease 56

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978

G

proteasome 26S subunit, non-ATPase 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211

G

prothymosin alpha

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333

G

S-antigen visual arrestin

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820

G

secondary ossification center associated regulator of chondrocyte maturation

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,140,510...88,145,527
Ensembl chr 9:88,140,419...88,145,891

G

small nucleolar RNA, C/D box 20

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147

G

small nucleolar RNA, C/D box 82

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586

G

SP100 nuclear antigen

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034

G

SP110 nuclear body protein

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670

G

SP140 nuclear body protein

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542

G

spermatogenesis associated 3

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272

G

secreted phosphoprotein 2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688

G

testis expressed 44

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102

G

transient receptor potential cation channel, subfamily M, member 8

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552

G

UDP glucuronosyltransferase family 1 member A1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465

G

UDP glucuronosyltransferase 1 family, polypeptide A2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465

G

UDP glycosyltransferase 1 family, polypeptide A3

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465

G

UDP glucuronosyltransferase family 1 member A5

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465

G

UDP glucuronosyltransferase family 1 member A6

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465

G

UDP glucuronosyltransferase family 1 member A9

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465

G

ubiquitin specific peptidase 40

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,607,920...88,678,940
Ensembl chr 9:88,607,930...88,678,914

Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pancreas associated transcription factor 1a

ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:10507728 PMID:15543146 PMID:18591390 PMID:19650412 PMID:20065546 More...

NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135

Seckel syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centromere protein J

ClinVar Annotator: match by term: CENPJ-related disorder | ClinVar Annotator: match by term: Seckel syndrome 4
DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human)

OMIM
ClinVar
RGD

PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 More...

RGD:11541118, RGD:11541114

NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791

G

ring finger protein 17

ClinVar Annotator: match by term: Seckel syndrome 4

PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 More...

NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024

Silver-Russell Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin-like growth factor 2

ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3

PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More...

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

insulin 1

ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3

PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More...

NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536

trichohepatoenteric syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

negative elongation factor complex member E

ClinVar Annotator: match by term: Trichohepatoenteric syndrome

NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355

G

SKI2 subunit of superkiller complex

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome

PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 More...

NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261

G

SKI3 subunit of superkiller complex

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA | ClinVar Annotator: match by term: Trichohepatoenteric syndrome

PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 More...

NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626

trichohepatoenteric syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acylglycerol kinase

ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1

PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 More...

NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934

G

SKI3 subunit of superkiller complex

ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1

PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 More...

NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626

trichohepatoenteric syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SKI2 subunit of superkiller complex

ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2

PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 More...

NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261

Wiedemann-Rautenstrauch syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome

PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

RNA polymerase III subunit A

ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome

PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 More...

NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172

G

pyrroline-5-carboxylate reductase 1

ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome

PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 More...

NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549

X-linked Microhydranencephaly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G patch domain and KOW motifs

ClinVar Annotator: match by term: Holoprosencephaly with fetal akinesia/hypokinesia sequence

NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384

Term paths to the root

Path 1
Term	Annotations
disease	19099
Developmental Disease	14598
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	13613
Fetal Diseases	383
Diabetic Embryopathy	1
Echogenic Bowel	0
Fetal Growth Retardation +	212
Fetal Hypoxia	7
Fetal Inflammatory Response Syndrome	1
Fetal Macrosomia +	58
Fetal Nutrition Disorders	6
Megaduodenum	2
Multiple Pterygium Syndrome, Lethal Type +	9
Nuchal Cord	0
Pyelectasis	0
chorioamnionitis +	10
fetal alcohol spectrum disorder +	43
fetal encasement syndrome	1
hemolytic disease of the fetus +	67
meconium aspiration syndrome	4
Path 2
Term	Annotations
disease	19099
disease of anatomical entity	18440
Urogenital Diseases	5375
Female Urogenital Diseases and Pregnancy Complications	2652
Pregnancy Complications	803
Fetal Diseases	383
Diabetic Embryopathy	1
Echogenic Bowel	0
Fetal Growth Retardation +	212
Fetal Hypoxia	7
Fetal Inflammatory Response Syndrome	1
Fetal Macrosomia +	58
Fetal Nutrition Disorders	6
Megaduodenum	2
Multiple Pterygium Syndrome, Lethal Type +	9
Nuchal Cord	0
Pyelectasis	0
chorioamnionitis +	10
fetal alcohol spectrum disorder +	43
fetal encasement syndrome	1
hemolytic disease of the fetus +	67
meconium aspiration syndrome	4

paths to the root