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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 Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A IEP mRNA:increased expression:placenta RGD PMID:16225763 RGD:2306659 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ace angiotensin I converting enzyme IEP mRNA:increased expression:kidney (rat) RGD PMID:24847689 RGD:12879387 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP RGD PMID:23533720 RGD:8695947 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor1 adiponectin receptor 1 treatment IEP RGD PMID:23533720 RGD:8695947 NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP RGD PMID:23533720 RGD:8695947 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Agt angiotensinogen ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:kidney,urine:
CTD PMID:17537837, PMID:20530295, PMID:26270574 RGD:13432363, RGD:11538508 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP RGD PMID:21303825 RGD:5129179 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IEP RGD PMID:21303825 RGD:5129179 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
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 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO protein:increased expression:serum (human) RGD PMID:25724728 RGD:14696679 NCBI chr 3:2,490,496...2,502,247
Ensembl chr 3:2,490,518...2,502,248
JBrowse link
G Apoe apolipoprotein E IEP mRNA:increased expression:adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
JBrowse link
G Arg1 arginase 1 IEP RNA:increased expression:thoracic aorta: RGD PMID:29741931 RGD:13792602 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IEP protein:increased expression:retroperitoneal fat pad (rat) RGD PMID:26633942 RGD:13703049 NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta IEP protein:decreased expression:liver (rat) RGD PMID:26342040 RGD:13782135 NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:22932950 RGD:10054114 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:22932950 RGD:10054114 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:22710965 RGD:9068402 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IEP RGD PMID:3973436 RGD:2303532 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:22932950 RGD:10054114 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23667712 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP RGD PMID:3973436 RGD:2303532 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Cth cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
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 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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
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 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11078571, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15521979, PMID:15670717, PMID:15776424, PMID:15805162, PMID:15952211, PMID:16497572, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:19390132, PMID:20301322, PMID:20556518, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776119 NCBI chr 6:133,576,513...133,583,751
Ensembl chr 6:133,552,821...133,583,751
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 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta IEP mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:12487923 RGD:7771581 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Dusp5 dual specificity phosphatase 5 IEP RGD PMID:16940436 RGD:2317872 NCBI chr 1:274,245,184...274,258,595
Ensembl chr 1:274,245,184...274,258,595
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, PMID:29068549, PMID:30311386 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO mRNA:decreased expression:placenta RGD PMID:20008130 RGD:7488901 NCBI chr  X:1,287,875...1,304,822
Ensembl chr  X:1,297,099...1,304,822
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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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 chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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 chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:30311386 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide disease_progression IEP RGD PMID:20637157 RGD:12904883 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Ghsr growth hormone secretagogue receptor disease_progression IEP RGD PMID:20637157 RGD:12904883 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19500843 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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 chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
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 chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IEP RGD PMID:20423831 RGD:13210763 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IEP mRNA:decreased expression RGD PMID:11124150 RGD:1599884 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
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 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac2 histone deacetylase 2 IEP mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:altered methylation:prompter: RGD PMID:20126273 RGD:12904699 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
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 chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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 PMID:14657428, PMID:14657428, PMID:12536576, PMID:24239160 RGD:1624299, RGD:12904724, RGD:12904720 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:altered expresssion:liver,placenta:
CTD PMID:12087403, PMID:16040806, PMID:1408464 RGD:14985247 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igf2r insulin-like growth factor 2 receptor IEP mRNA:increased expresssion:fetus: RGD PMID:1408464 RGD:14985247 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
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, PMID:15506645 RGD:10402581, RGD:12743599, RGD:12743590, RGD:12743585, RGD:12743583, RGD:1600258 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Irs1 insulin receptor substrate 1 IEP mRNA,protein:decreased expression:growth plate: RGD PMID:22995397 RGD:8661261 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Irs2 insulin receptor substrate 2 IEP RGD PMID:20720385 RGD:7257699 NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
JBrowse link
G Lep leptin IDA RGD PMID:21353474 RGD:5128507 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Mdm2 MDM2 proto-oncogene IEP mRNA:decreased expression:cerebrum (rat) RGD PMID:15563574 RGD:2317395 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mecp2 methyl CpG binding protein 2 IEP mRNA,protein:decreased expression:hippocampus: RGD PMID:16380407 RGD:9588242 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:28157488, PMID:17367869 RGD:13204803 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Muc1 mucin 1, cell surface associated IEP RGD PMID:19287349 RGD:7349369 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP RGD PMID:19287349 RGD:7349369 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc4 mucin 4, cell surface associated IEP RGD PMID:19287349 RGD:7349369 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment IEP
ISO
protein:decreased expression:placenta RGD PMID:23910525, PMID:25171874, PMID:25171874 RGD:10412716, RGD:26884462, RGD:26884462 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nin ninein ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:30311386 NCBI chr 6:92,423,412...92,527,776
Ensembl chr 6:92,433,381...92,527,711
JBrowse link
G Nos1 nitric oxide synthase 1 IEP associated with hyperinsulinemia; protein:decreased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 IEP associated with hyperinsulinemia; protein:increased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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 PMID:22421449, PMID:23667712, PMID:19709742, PMID:29741931 RGD:5132592, RGD:13792602 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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 chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445
JBrowse link
G Otc ornithine transcarbamylase IEP mRNA:altered expression:liver (rat) RGD PMID:8929856 RGD:4144077 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 IEP mRNA:decreased expression:liver: RGD PMID:12538794 RGD:10448276 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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 chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP mRNA:decreased expression:lung (rat) RGD PMID:21425435 RGD:8552971 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA, protein:increased expression:liver (rat) RGD PMID:18433551 RGD:10059649 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Prdx6 peroxiredoxin 6 ISO
IEP
protein:decreased expression:placenta RGD PMID:25171874, PMID:25171874 RGD:26884462, RGD:26884462 NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
JBrowse link
G Ptger3 prostaglandin E receptor 3 IEP mRNA, protein:increased expression:placenta (rat) RGD PMID:15990166 RGD:10043194 NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 treatment IEP with postnatal growth restriction RGD PMID:19491300 RGD:12743586 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rbp1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 8:106,449,321...106,470,842
Ensembl chr 8:106,449,321...106,470,842
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17537837 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sin3a SIN3 transcription regulator family member A IDA RGD PMID:18464933 RGD:2311214 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
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 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc2a2 solute carrier family 2 member 2 IEP mRNA, protein:decreased expression:liver RGD PMID:9886959 RGD:12879480 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc2a3 solute carrier family 2 member 3 IEP protein:increased expression:placenta RGD PMID:11738800 RGD:730192 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Slc38a2 solute carrier family 38, member 2 IEP mRNA, protein:decreased expression:placenta RGD PMID:21812961 RGD:9999212 NCBI chr 7:138,088,654...138,100,869
Ensembl chr 7:138,088,649...138,100,841
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21893188 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 IEP RGD PMID:19017816 RGD:2308805 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
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 chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Tff3 trefoil factor 3 IEP RGD PMID:19287349 RGD:7349369 NCBI chr20:9,850,800...9,855,481
Ensembl chr20:9,850,803...9,855,481
JBrowse link
G Unc13a unc-13 homolog A IEP RGD PMID:18787382 RGD:5686390 NCBI chr16:20,056,398...20,103,951
Ensembl chr16:20,056,765...20,097,287
JBrowse link
G Vdr vitamin D receptor ISO mRNA,protein:decreased expression:placenta: RGD PMID:25716068 RGD:11058690 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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 OMIM:211180 OMIM
ClinVar
PMID:19463982 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
JBrowse link
fetal akinesia deformation sequence syndrome 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: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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 chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Adssl1 adenylosuccinate synthase like 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 6:137,184,818...137,206,694
Ensembl chr 6:137,184,820...137,206,693
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 chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
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 chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
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 chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893
JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
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:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
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 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
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 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 1
ClinVar PMID:2261499, PMID:16917026, PMID:17439981, PMID:17452375, PMID:18161030, PMID:18165682, PMID:18414213, PMID:18626973, PMID:19261599, PMID:19837590, PMID:20012313, PMID:20458068, PMID:20554332, PMID:20562457, PMID:20610155, PMID:21520333, PMID:21850686, PMID:21984750, PMID:22230109, PMID:22661499, PMID:22678886, PMID:23219351, PMID:23657916, PMID:23790237, PMID:23831158, PMID:24033266, PMID:24088041, PMID:24425145, PMID:24500997, PMID:25033858, PMID:25237101, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26467025, PMID:26583494, PMID:26633545, PMID:27391121, PMID:28492532, PMID:28716243, PMID:29054425, PMID:29118959, PMID:29395675, PMID:30266093, PMID:30311386, PMID:31880392 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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 4:113,890,201...113,899,355
Ensembl chr 4:113,890,509...113,899,347
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
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 chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr12:46,728,684...46,789,696
Ensembl chr12:46,728,699...46,789,726
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 3:123,573,394...123,582,431
Ensembl chr 3:123,578,997...123,581,518
JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
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 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493
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 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
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 2:206,499,467...206,699,105
Ensembl chr 2:206,499,463...206,699,105
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar
OMIM
PMID:15184594, PMID:15496425, PMID:18414213, PMID:21520333, PMID:23326516, PMID:24122059, PMID:25262156, PMID:25537362, PMID:25612909, PMID:25695962, PMID:25741868, PMID:25900532, PMID:26467025, PMID:28492532, PMID:29704306, PMID:30311386, PMID:30429133, PMID:30719842 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
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 chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:27974811, PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
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 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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:11791205, PMID:12651869, PMID:12730725, PMID:12796535, PMID:12807980, PMID:12929188, PMID:14504330, PMID:14659409, PMID:14729848, PMID:15036330, PMID:15145336, PMID:15282317, PMID:15286164, PMID:15328566, PMID:15482960, PMID:16945936, PMID:17190963, PMID:17594401, PMID:17686188, PMID:17878953, PMID:19620612, PMID:20157724, PMID:20562457, PMID:20930056, PMID:21228398, PMID:21305573, PMID:22326364, PMID:24033266, PMID:24319099, PMID:25194721, PMID:25264167, PMID:25741868, PMID:26147564, PMID:26467025, PMID:26782015, PMID:26910802, PMID:26927095, PMID:28492532, PMID:28495245, PMID:29053879, PMID:29054425, PMID:29189923, PMID:30124556, PMID:30266223, PMID:30311386, PMID:31680123 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
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 chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar PMID:20839240, PMID:21911697, PMID:22473935, PMID:25658027, PMID:25735680, PMID:25741868, PMID:28492532, PMID:30311386, PMID:31680123 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:30311386, PMID:31680123 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
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 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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, PMID:31680123 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 9:77,027,626...77,833,476
Ensembl chr 9:77,320,726...77,833,281
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
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 9:44,024,994...44,032,896
Ensembl chr 9:44,025,020...44,032,888
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 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
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 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
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 OMIM
ClinVar
PMID:14504330, PMID:18179903, PMID:18252226 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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 OMIM
ClinVar
PMID:16917026, PMID:18161030, PMID:18626973, PMID:19261599, PMID:21850686, PMID:22661499, PMID:28492532, PMID:31880392 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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 OMIM
ClinVar
PMID:30543681 NCBI chr10:57,581,828...57,606,171
Ensembl chr10:57,581,828...57,606,171
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:17314340, PMID:17403714, PMID:18386115, PMID:18771761, PMID:19285991, PMID:19389488, PMID:19508421, PMID:20518024, PMID:20727375, PMID:21274865, PMID:22277166, PMID:22310368, PMID:23892085, PMID:24033266, PMID:24236502, PMID:24655110, PMID:25741868, PMID:25895478, PMID:25914718, PMID:26467025, PMID:26489029, PMID:27959697, PMID:28105683, PMID:28322498, PMID:28492532, PMID:28496993, PMID:29090881, PMID:31435670 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
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 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IMAGE Syndrome
ClinVar Annotator: match by OMIM:614732
OMIM
CTD
ClinVar
PMID:15769992, PMID:22634751, PMID:24098681, PMID:25057881, PMID:25614875, PMID:28492532, PMID:30374176 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
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, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30503519 NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
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 chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
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:21474760, PMID:21474761, PMID:21977988, PMID:22581640, PMID:24865609, PMID:25741868, PMID:25741869, PMID:26522830, PMID:29165669, PMID:29265708 NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
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
PMID:12210304, PMID:15372530, PMID:18157127, PMID:18174396, PMID:18414213, PMID:19448849, PMID:19643772, PMID:19839044, PMID:19937158, PMID:21195721, PMID:21567919, PMID:23033978, PMID:24033266, PMID:25326635, PMID:25741868, PMID:27323140, PMID:27900370, PMID:28492532, PMID:32818659, PMID:18157127, PMID:19643772, PMID:18174396, PMID:21567919 RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
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:12605447, PMID:16007586, PMID:19938095, PMID:21855841, PMID:25741868, PMID:25898808, PMID:27612211, PMID:28459997, PMID:28492532, PMID:30323018, PMID:30414627, PMID:30450527, PMID:30847471, PMID:31637490 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
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:19235232, PMID:24836451, PMID:25152457, PMID:25741868, PMID:28492532 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
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, PMID:25741868, PMID:25775927, PMID:28492532 NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
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
PMID:18414213, PMID:20522431, PMID:20978018, PMID:24033266, PMID:24402816, PMID:25741868, PMID:26467025, PMID:26752647, PMID:28492532, PMID:30311386, PMID:20522431, PMID:23166506 RGD:11541118, RGD:11541114 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
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, PMID:28492532 NCBI chr15:36,609,348...36,744,750
Ensembl chr15:36,609,296...36,744,762
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 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
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 chr20:4,530,328...4,536,085
Ensembl chr20:4,530,342...4,536,209
JBrowse link
G Skiv2l Ski2 like RNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
NCBI chr20:4,519,457...4,530,177
Ensembl chr20:4,519,474...4,530,126
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 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553
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:24088041, PMID:25326635, PMID:25741868, PMID:26633545 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
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 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553
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, PMID:28492532, PMID:32313153, PMID:32963807 NCBI chr20:4,519,457...4,530,177
Ensembl chr20:4,519,474...4,530,126
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Fetal Diseases 239
          Fetal Growth Retardation 172
            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 3
            IMAGEI Syndrome 1
            IMAGe syndrome 1
            Lambotte Syndrome 0
            Microcephalic Osteodysplastic Primordial Dwarfism + 2
            Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 0
            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
            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 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Pregnancy Complications 574
            Fetal Diseases 239
              Fetal Growth Retardation 172
                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 3
                IMAGEI Syndrome 1
                IMAGe syndrome 1
                Lambotte Syndrome 0
                Microcephalic Osteodysplastic Primordial Dwarfism + 2
                Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 0
                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
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.