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RGD DISEASE ONTOLOGY - ANNOTATIONS

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 Growth Retardation
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Accession:DOID:9002231 term browser browse the term
Definition:The failure of a FETUS to attain its expected FETAL GROWTH at any GESTATIONAL AGE.
Synonyms:exact_synonym: IUGR;   Intrauterine Growth Retardation;   intrauterine growth restriction
 primary_id: MESH:D005317;   RDO:0000316
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Fetal Growth Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IEP mRNA:increased expression:placenta RGD PMID:16225763 RGD:2306659 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:kidney (rat) RGD PMID:24847689 RGD:12879387 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP RGD PMID:23533720 RGD:8695947 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adipor1 adiponectin receptor 1 treatment IEP RGD PMID:23533720 RGD:8695947 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241 		JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP RGD PMID:23533720 RGD:8695947 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355 		JBrowse link
G Agt angiotensinogen ISO
IEP		 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 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP RGD PMID:21303825 RGD:5129179 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 IEP RGD PMID:21303825 RGD:5129179 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO protein:increased expression:serum (human) RGD PMID:25724728 RGD:14696679 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		JBrowse link
G Apoe apolipoprotein E IEP mRNA:increased expression:adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329 		JBrowse link
G Arg1 arginase 1 IEP RNA:increased expression:thoracic aorta: RGD PMID:29741931 RGD:13792602 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IEP protein:increased expression:retroperitoneal fat pad (rat) RGD PMID:26633942 RGD:13703049 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta IEP protein:decreased expression:liver (rat) RGD PMID:26342040 RGD:13782135 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:22932950 RGD:10054114 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:22932950 RGD:10054114 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:22710965 RGD:9068402 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IEP RGD PMID:3973436 RGD:2303532 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:22932950 RGD:10054114 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain IEP mRNA:decreased expression:distal epiphyseal plate of femur (rat) RGD PMID:22995397 RGD:8661261 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23667712 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP RGD PMID:3973436 RGD:2303532 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Cth cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 IEP mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 IEP protein:decreased expression:fetus, adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IEP mRNA:increased expression:fetus, adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 IEP
ISO		 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 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776119 NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522 		JBrowse link
G Dnmt1 DNA methyltransferase 1 IEP 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 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta IEP mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:12487923 RGD:7771581 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Dusp5 dual specificity phosphatase 5 IEP RGD PMID:16940436 RGD:2317872 NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO mRNA:decreased expression:placenta RGD PMID:20008130 RGD:7488901 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO 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 		JBrowse link
G Faslg Fas ligand severity ISO 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 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 IEP 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 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide disease_progression IEP RGD PMID:20637157 RGD:12904883 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Ghsr growth hormone secretagogue receptor disease_progression IEP RGD PMID:20637157 RGD:12904883 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19500843 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A IEP protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IEP RGD PMID:20423831 RGD:13210763 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO 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 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO 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 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IEP mRNA:decreased expression RGD PMID:11124150 RGD:1599884 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hdac1 histone deacetylase 1 IDA
IEP		 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 		JBrowse link
G Hdac2 histone deacetylase 2 IEP mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:altered methylation:prompter: RGD PMID:20126273 RGD:12904699 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 IEP associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment
onset		 IEP
ISO		 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 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor onset ISO
IEP		 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 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO
IEP		 CTD Direct Evidence: marker/mechanism
mRNA:altered expresssion:liver,placenta:		 CTD
RGD		 PMID:12087403 PMID:16040806 PMID:1408464 RGD:14985247 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor IEP mRNA:increased expresssion:fetus: RGD PMID:1408464 RGD:14985247 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment IEP
ISO		 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 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Irs1 insulin receptor substrate 1 IEP mRNA,protein:decreased expression:growth plate: RGD PMID:22995397 RGD:8661261 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Irs2 insulin receptor substrate 2 IEP RGD PMID:20720385 RGD:7257699 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482 		JBrowse link
G Lep leptin IDA RGD PMID:21353474 RGD:5128507 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Mdm2 MDM2 proto-oncogene IEP mRNA:decreased expression:cerebrum (rat) RGD PMID:15563574 RGD:2317395 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Mecp2 methyl CpG binding protein 2 IEP mRNA,protein:decreased expression:hippocampus: RGD PMID:16380407 RGD:9588242 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:28157488 PMID:17367869 RGD:13204803 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO 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 		JBrowse link
G Muc1 mucin 1, cell surface associated IEP RGD PMID:19287349 RGD:7349369 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP RGD PMID:19287349 RGD:7349369 NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Muc4 mucin 4, cell surface associated IEP RGD PMID:19287349 RGD:7349369 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment IEP
ISO		 protein:decreased expression:placenta RGD PMID:23910525 PMID:25171874 PMID:25171874 RGD:10412716, RGD:26884462, RGD:26884462 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP associated with hyperinsulinemia; protein:decreased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP associated with hyperinsulinemia; protein:increased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO		 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 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP
IDA		 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 		JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375 		JBrowse link
G Otc ornithine transcarbamylase IEP mRNA:altered expression:liver (rat) RGD PMID:8929856 RGD:4144077 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 IEP mRNA:decreased expression:liver: RGD PMID:12538794 RGD:10448276 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 IEP
IDA		 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 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP mRNA:decreased expression:lung (rat) RGD PMID:21425435 RGD:8552971 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA, protein:increased expression:liver (rat) RGD PMID:18433551 RGD:10059649 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO
IEP		 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 		JBrowse link
G Ptger3 prostaglandin E receptor 3 IEP mRNA, protein:increased expression:placenta (rat) RGD PMID:15990166 RGD:10043194 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 treatment IEP with postnatal growth restriction RGD PMID:19491300 RGD:12743586 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rbp1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17537837 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chr 4:31,164,639...31,184,325
Ensembl chr 4:31,164,510...31,184,322 		JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: RGD PMID:8018914 RGD:13208595 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sin3a SIN3 transcription regulator family member A IDA RGD PMID:18464933 RGD:2311214 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 IEP 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 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 IEP mRNA, protein:decreased expression:liver RGD PMID:9886959 RGD:12879480 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 IEP protein:increased expression:placenta RGD PMID:11738800 RGD:730192 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Slc38a2 solute carrier family 38, member 2 IEP mRNA, protein:decreased expression:placenta RGD PMID:21812961 RGD:9999212 NCBI chr 7:127,851,267...127,863,482
Ensembl chr 7:127,851,267...127,863,436 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21893188 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 IEP RGD PMID:19017816 RGD:2308805 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Srebf1_v2 sterol regulatory element binding factor 1, variant 2 IEP RGD PMID:19017816 RGD:2308805
G Star steroidogenic acute regulatory protein IEP mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Tff3 trefoil factor 3 IEP RGD PMID:19287349 RGD:7349369 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054 		JBrowse link
G Unc13a unc-13 homolog A IEP RGD PMID:18787382 RGD:5686390 NCBI chr16:18,336,229...18,381,811
Ensembl chr16:18,336,229...18,381,872 		JBrowse link
G Vdr vitamin D receptor ISO mRNA,protein:decreased expression:placenta: RGD PMID:25716068 RGD:11058690 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Bowen-Conradi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Bowen-Conradi syndrome
ClinVar Annotator: match by OMIM:211180		 OMIM
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 		JBrowse link
fetal akinesia deformation sequence syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28749478 PMID:31680123 NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar 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 		JBrowse link
G Dqx1 DEAQ box RNA-dependent ATPase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar
OMIM		 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 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar 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 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by OMIM:208150
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar Annotator: match by term: Fetal akinesia sequence		 ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G RGD1307100 similar to RIKEN cDNA D630029K19 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar 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 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar 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 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:71,333,005...72,252,772
Ensembl chr 9:71,332,992...72,252,708 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Unc50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:39,664,944...39,674,369
Ensembl chr 9:39,664,971...39,672,890 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2		 OMIM
ClinVar		 PMID:14504330 PMID:18179903 PMID:18252226 PMID:25741868 PMID:26467025 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 3		 OMIM
ClinVar		 PMID:16917026 PMID:18161030 PMID:18626973 PMID:19261599 PMID:21850686 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup88 nucleoporin 88 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 4		 OMIM
ClinVar		 PMID:25741868 PMID:30543681 NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome
ClinVar Annotator: match by OMIM:603358		 OMIM
ClinVar		 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome		 CTD
ClinVar		 PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: IMAGE Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:614732		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24098681 More... NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048 		JBrowse link
IMAGEI Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY ClinVar
OMIM		 PMID:14760276 PMID:16835919 PMID:23263490 PMID:23447401 PMID:24033266 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism ClinVar PMID:18414213 PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1
ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia		 ClinVar PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
ClinVar Annotator: match by OMIM:210720
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
RGD		 PMID:12210304 PMID:15372530 PMID:16199547 PMID:18157127 PMID:18174396 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 		JBrowse link
Neonatal Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome		 OMIM
ClinVar		 PMID:614258 PMID:12605447 PMID:16007586 PMID:19938095 PMID:21855841 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1
ClinVar Annotator: match by OMIM:256520		 OMIM
ClinVar		 PMID:11034457 PMID:11055895 PMID:14645240 PMID:19235232 PMID:22393170 More... NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis
ClinVar Annotator: match by OMIM:609069
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10507728 PMID:15543146 PMID:19650412 PMID:20065546 PMID:21749365 More... NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135 		JBrowse link
Seckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 4
DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human)
ClinVar Annotator: match by OMIM:613676
ClinVar Annotator: match by null		 OMIM
ClinVar
RGD		 PMID:18414213 PMID:20522431 PMID:20978018 PMID:24033266 PMID:24402816 More... RGD:11541118, RGD:11541114 NCBI chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 4 ClinVar PMID:18414213 PMID:20522431 PMID:24402816 PMID:25741868 PMID:26467025 More... NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024 		JBrowse link
Silver-Russell Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Growth restriction, severe, with distinctive facies OMIM
ClinVar		 PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Growth restriction, severe, with distinctive facies ClinVar PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
trichohepatoenteric syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355 		JBrowse link
G Skiv2l Ski2 like RNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome		 CTD
ClinVar		 NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261 		JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome		 CTD
ClinVar		 PMID:24033266 NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626 		JBrowse link
trichohepatoenteric syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 PMID:25741868 More... NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1
ClinVar Annotator: match by OMIM:222470		 OMIM
ClinVar		 PMID:20176027 PMID:21120949 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626 		JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skiv2l Ski2 like RNA helicase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2
ClinVar Annotator: match by OMIM:614602		 OMIM
ClinVar		 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27431780 More... NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        Fetal Diseases 252
          Fetal Growth Retardation 168
            Bowen-Conradi syndrome 1
            Camptodactyly Syndrome Guadalajara Type 2 0
            Cartwright Nelson Fryns Syndrome 0
            Craniomicromelic Syndrome 0
            Fetal Akinesia Syndrome, X-Linked 0
            GRACILE syndrome 1
            Granddad Syndrome 0
            Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 0
            Hoyeraal Hreidarsson Syndrome 5
            IMAGEI Syndrome 1
            IMAGe syndrome 1
            Lambotte Syndrome 0
            Microcephalic Osteodysplastic Primordial Dwarfism + 2
            Neonatal Progeroid Syndrome 1
            Neu-Laxova syndrome 1 2
            Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
            Ray Peterson Scott Syndrome 0
            Seckel syndrome 4 2
            Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 0
            Sharma Kapoor Ramji Syndrome 0
            Short Stature and Locking Fingers 0
            Silver-Russell Syndrome 3 2
            Thymic-Renal-Anal-Lung Dysplasia 0
            Woods Leversha Rogers Syndrome 0
            fetal akinesia deformation sequence syndrome + 43
            trichohepatoenteric syndrome + 4
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Urogenital Diseases 4437
        Female Urogenital Diseases and Pregnancy Complications 2085
          Pregnancy Complications 575
            Fetal Diseases 252
              Fetal Growth Retardation 168
                Bowen-Conradi syndrome 1
                Camptodactyly Syndrome Guadalajara Type 2 0
                Cartwright Nelson Fryns Syndrome 0
                Craniomicromelic Syndrome 0
                Fetal Akinesia Syndrome, X-Linked 0
                GRACILE syndrome 1
                Granddad Syndrome 0
                Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 0
                Hoyeraal Hreidarsson Syndrome 5
                IMAGEI Syndrome 1
                IMAGe syndrome 1
                Lambotte Syndrome 0
                Microcephalic Osteodysplastic Primordial Dwarfism + 2
                Neonatal Progeroid Syndrome 1
                Neu-Laxova syndrome 1 2
                Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
                Ray Peterson Scott Syndrome 0
                Seckel syndrome 4 2
                Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 0
                Sharma Kapoor Ramji Syndrome 0
                Short Stature and Locking Fingers 0
                Silver-Russell Syndrome 3 2
                Thymic-Renal-Anal-Lung Dysplasia 0
                Woods Leversha Rogers Syndrome 0
                fetal akinesia deformation sequence syndrome + 43
                trichohepatoenteric syndrome + 4
paths to the root