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

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show annotations for term's descendants           Sort by:
Fetal Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10195895 PMID:10195896 PMID:10346820 PMID:20961246 NCBI chrNW_004955507:6,066,026...6,102,066
Ensembl chrNW_004955507:6,067,203...6,102,001 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO associated with Diabetes Mellitus, Experimental RGD PMID:19283362 RGD:2313217 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Prkcb protein kinase C beta ISO associated with Diabetes Mellitus, Experimental;protein:increased expression RGD PMID:15496608 RGD:1625524 NCBI chrNW_004955493:2,395,494...2,710,522
Ensembl chrNW_004955493:2,395,109...2,710,934 		JBrowse link
G Prss8 serine protease 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705055 NCBI chrNW_004955493:7,970,929...7,976,885
Ensembl chrNW_004955493:7,971,609...7,976,666 		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 OMIM
ClinVar		 PMID:19463982 PMID:25741868 PMID:28492532 NCBI chrNW_004955413:4,563,864...4,570,809
Ensembl chrNW_004955413:4,563,864...4,570,809 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 More... NCBI chrNW_004955573:132,328...150,879
Ensembl chrNW_004955573:132,328...152,595 		JBrowse link
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY ClinVar PMID:25741868 PMID:35235341 NCBI chrNW_004955432:20,790,404...20,869,521
Ensembl chrNW_004955432:20,808,499...20,871,886 		JBrowse link
G Slc12a9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955573:107,337...125,875
Ensembl chrNW_004955573:107,044...125,875 		JBrowse link
chorioamnionitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end-product specific receptor ISO RGD PMID:22578261 RGD:6767308 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466 		JBrowse link
G Il6 interleukin 6 ISO associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
protein:increased expression: cervicovaginal fluid :
protein:increased expression:plasma		 RGD PMID:15547537 PMID:25011638 PMID:25687566 RGD:12791291 RGD:12792243 RGD:5128667 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Lta lymphotoxin alpha severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Tgfb1 transforming growth factor beta 1 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Tnf tumor necrosis factor severity
no_association		 ISO associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)		 RGD PMID:15128916 RGD:12904055 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chrNW_004955481:7,111,760...7,122,800 JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chrNW_004955555:1,493,600...1,509,113
Ensembl chrNW_004955555:1,490,052...1,509,113 		JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH OMIM
ClinVar		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chrNW_004955541:2,618,167...2,655,349
Ensembl chrNW_004955541:2,618,438...2,643,771 		JBrowse link
Diabetic Embryopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fadd Fas associated via death domain ISO RGD PMID:26419589 RGD:13792560 NCBI chrNW_004955422:16,026,323...16,035,808
Ensembl chrNW_004955422:16,031,280...16,036,281 		JBrowse link
fetal akinesia deformation sequence syndrome 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 deformation sequence ClinVar PMID:25741868 PMID:33060286 NCBI chrNW_004955492:8,644,696...8,647,412
Ensembl chrNW_004955492:8,644,146...8,647,523 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 More... NCBI chrNW_004955514:2,166,263...2,190,211
Ensembl chrNW_004955514:2,166,079...2,190,128 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 More... NCBI chrNW_004955419:16,387,770...16,484,266
Ensembl chrNW_004955419:16,387,770...16,484,266 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955406:24,726,483...24,742,590 JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2245297 PMID:11791205 PMID:12651869 PMID:15145336 PMID:15282317 More... NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 More... NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		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 Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:954,108...961,522
Ensembl chrNW_004955422:954,089...961,522 		JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286 NCBI chrNW_004955492:8,644,696...8,647,412
Ensembl chrNW_004955492:8,644,146...8,647,523 		JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 NCBI chrNW_004955538:3,179,299...3,196,251
Ensembl chrNW_004955538:3,179,299...3,196,251 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955483:2,467,425...2,494,416
Ensembl chrNW_004955483:2,467,425...2,494,416 		JBrowse link
G Arfgap2 ADP ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:995,672...1,006,008
Ensembl chrNW_004955422:995,672...1,006,008 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 NCBI chrNW_004955552:1,623,263...1,660,285
Ensembl chrNW_004955552:1,623,738...1,659,086 		JBrowse link
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 NCBI chrNW_004955437:19,381,279...19,487,057
Ensembl chrNW_004955437:19,381,279...19,490,822 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955406:33,665,675...33,720,468
Ensembl chrNW_004955406:33,661,322...33,720,259 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955416:690,440...712,391 JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955428:18,224,987...18,424,425
Ensembl chrNW_004955428:18,224,987...18,424,425 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955453:3,433,915...3,440,534
Ensembl chrNW_004955453:3,433,341...3,440,269 		JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955451:16,535,924...16,547,800
Ensembl chrNW_004955451:16,536,416...16,547,213 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:1,005,941...1,179,128
Ensembl chrNW_004955422:1,005,941...1,172,618 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:961,602...977,066
Ensembl chrNW_004955422:961,893...974,338 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More... NCBI chrNW_004955514:2,166,263...2,190,211
Ensembl chrNW_004955514:2,166,079...2,190,128 		JBrowse link
G Dqx1 DEAQ-box RNA dependent ATPase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955424:11,262,502...11,271,680
Ensembl chrNW_004955424:11,262,502...11,271,680 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955493:2,083,272...2,113,403
Ensembl chrNW_004955493:2,090,940...2,113,843 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More... NCBI chrNW_004955419:28,683,896...28,692,006
Ensembl chrNW_004955419:28,683,896...28,693,395 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955413:29,837,134...29,911,313
Ensembl chrNW_004955413:29,837,134...29,912,222 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25558065 NCBI chrNW_004955415:1,307,553...1,535,435
Ensembl chrNW_004955415:1,309,077...1,537,052 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955407:10,692,082...10,959,236
Ensembl chrNW_004955407:10,692,303...10,963,489 		JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955455:11,416,222...11,474,791
Ensembl chrNW_004955455:11,416,237...11,474,207 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955415:14,513,183...14,514,140 JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955409:3,128,718...3,179,083
Ensembl chrNW_004955409:3,128,684...3,179,083 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955454:6,978,317...7,079,490
Ensembl chrNW_004955454:6,981,338...7,079,486 		JBrowse link
G Lgi4 leucine rich repeat LGI family member 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955468:4,441,808...4,456,884
Ensembl chrNW_004955468:4,445,155...4,453,610 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:1,191,338...1,238,227
Ensembl chrNW_004955422:1,191,338...1,238,227 		JBrowse link
G Madd MAP kinase activating death domain ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:902,969...940,201
Ensembl chrNW_004955422:902,969...940,201 		JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955435:16,735,598...16,974,005
Ensembl chrNW_004955435:16,735,598...16,972,204 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I OMIM
ClinVar		 PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chrNW_004955419:16,387,770...16,484,266
Ensembl chrNW_004955419:16,387,770...16,484,266 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955413:27,463,931...27,472,273
Ensembl chrNW_004955413:27,461,998...27,472,273 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chrNW_004955404:9,603,567...9,894,688
Ensembl chrNW_004955404:9,603,562...9,895,817 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 More... NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:940,310...954,170
Ensembl chrNW_004955422:940,310...949,049 		JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:989,605...995,140 JBrowse link
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chrNW_004955402:1,534,619...1,873,143
Ensembl chrNW_004955402:1,650,726...1,871,876 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955406:24,726,483...24,742,590 JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955500:1,897,899...1,990,791
Ensembl chrNW_004955500:1,897,912...1,990,875 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:837,934...843,161
Ensembl chrNW_004955422:837,573...845,341 		JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar Annotator: match by term: RAPSN-Related Disorders		 ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289 		JBrowse link
G Ror2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955515:313,612...554,751
Ensembl chrNW_004955515:313,604...553,774 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 More... NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955416:712,506...1,260,111
Ensembl chrNW_004955416:713,373...1,259,885 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955478:7,861,585...7,906,192
Ensembl chrNW_004955478:7,861,585...7,906,192 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chrNW_004955402:30,380,346...30,738,869
Ensembl chrNW_004955402:30,380,346...30,734,144 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:845,076...852,772
Ensembl chrNW_004955422:845,678...852,772 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955457:1,543,946...2,492,686 JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004955422:873,735...886,560
Ensembl chrNW_004955422:873,735...886,560 		JBrowse link
G Svep1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chrNW_004955419:16,589,811...16,773,425
Ensembl chrNW_004955419:16,589,811...16,777,001 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955405:34,526,420...34,556,740
Ensembl chrNW_004955405:34,535,306...34,554,835 		JBrowse link
G Unc50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955470:5,050,982...5,059,890 JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004955486:1,515,630...1,772,107
Ensembl chrNW_004955486:1,513,712...1,767,956 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004955440:10,755,658...10,881,044
Ensembl chrNW_004955440:10,756,014...10,795,491 		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:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289 		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 Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chrNW_004955423:27,043,621...27,233,710
Ensembl chrNW_004955423:27,044,341...27,233,710 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 OMIM
ClinVar		 PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 More... NCBI chrNW_004955514:2,166,263...2,190,211
Ensembl chrNW_004955514:2,166,079...2,190,128 		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:25741868 PMID:30543681 NCBI chrNW_004955467:10,749,910...10,780,423
Ensembl chrNW_004955467:10,749,910...10,780,423 		JBrowse link
G Rabep1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chrNW_004955467:10,613,671...10,748,122
Ensembl chrNW_004955467:10,613,861...10,747,255 		JBrowse link
fetal alcohol spectrum disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chrNW_004955425:13,522,233...13,851,286 JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:15007105 RGD:12904641 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Bpifa1 BPI fold containing family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15513904 NCBI chrNW_004955422:28,063,077...28,069,939 JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:26074427 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 sexual_dimorphism ISO associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) RGD PMID:29251811 RGD:401965484 NCBI chrNW_004955478:10,380,185...10,390,838
Ensembl chrNW_004955478:10,379,287...10,404,825 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:Pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chrNW_004955422:28,380,595...28,427,012
Ensembl chrNW_004955422:28,380,591...28,421,301 		JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:Hypermethylation:promoter
mRNA:decreased expression: pituitary gland (rat)		 RGD PMID:26509893 PMID:28710248 RGD:11344152 RGD:401960105 NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chrNW_004955437:396,736...411,144
Ensembl chrNW_004955437:396,742...411,144 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO mRNA:increased expression:posterior hypothalamic region (rat) RGD PMID:18514412 RGD:402528884 NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:22037411 PMID:23763370 RGD:13210751 RGD:13432044 NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145 		JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chrNW_004955526:2,739,099...2,759,640
Ensembl chrNW_004955526:2,728,377...2,759,707 		JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO protein:increased expression:placenta (rat) RGD PMID:26342748 RGD:401965481 NCBI chrNW_004955484:9,206,681...9,212,356
Ensembl chrNW_004955484:9,206,681...9,212,356 		JBrowse link
G Igf1 insulin like growth factor 1 ISO mRNA:decreased expression:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO protein:decreased activity:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chrNW_004955424:1,953,623...1,961,164
Ensembl chrNW_004955424:1,953,623...1,961,164 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25511929 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 sexual_dimorphism ISO associated with adrenalectomy, chronic stress, female; mRNA:increased expression:prefrontal cortex (rat)
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)		 RGD PMID:29251811 PMID:30367959 RGD:401965484 RGD:401966864 NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 sexual_dimorphism ISO associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) RGD PMID:29251811 RGD:401965484 NCBI chrNW_004955471:3,059,210...3,397,894
Ensembl chrNW_004955471:3,061,735...3,395,520 		JBrowse link
G Oprk1 opioid receptor kappa 1 ISO DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex RGD PMID:29678771 RGD:401851055 NCBI chrNW_004955454:12,741,577...12,751,282
Ensembl chrNW_004955454:12,744,765...12,752,226 		JBrowse link
G Oprl1 opioid related nociceptin receptor 1 ISO mRNA:decreased expression:ventral tegmental area RGD PMID:29678771 RGD:401851055 NCBI chrNW_004955528:161,673...184,515
Ensembl chrNW_004955528:161,673...167,937 		JBrowse link
G Pdyn prodynorphin ISO DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515 		JBrowse link
G Pnoc prepronociceptin ISO mRNA:increased expression:nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chrNW_004955403:50,735,567...50,755,892
Ensembl chrNW_004955403:50,735,390...50,755,902 		JBrowse link
G Prl prolactin ISO mRNA,protein:increased expression:pituitary gland, blood plasma (rat)
mRNA, protein:increased expression:pituitary gland, blood plasma (rat)		 RGD PMID:26509893 PMID:28710248 RGD:11344152 RGD:401960105 NCBI chrNW_004955483:4,495,257...4,503,377 JBrowse link
G Pten phosphatase and tensin homolog ISO Protein:increased expression, increased activity:cerebellum (rat) RGD PMID:12700235 RGD:12801493 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829 		JBrowse link
G Rps6ka1 ribosomal protein S6 kinase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chrNW_004955452:5,905,561...5,938,096
Ensembl chrNW_004955452:5,904,762...5,939,091 		JBrowse link
G Setd7 SET domain containing 7, histone lysine methyltransferase ISO mRNA:decreased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chrNW_004955428:4,131,431...4,178,250
Ensembl chrNW_004955428:4,131,103...4,178,250 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711 		JBrowse link
fetal alcohol syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO protein:increased activation:neuron, cerebellum RGD PMID:17109064 RGD:2298867 NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451 		JBrowse link
fetal encasement syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: Cocoon syndrome OMIM
ClinVar		 PMID:20961246 NCBI chrNW_004955507:6,066,026...6,102,066
Ensembl chrNW_004955507:6,067,203...6,102,001 		JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chrNW_004955537:2,340,282...2,360,925 JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chrNW_004955402:31,320,897...31,343,774
Ensembl chrNW_004955402:31,320,591...31,343,829 		JBrowse link
G Slc29a1 solute carrier family 29 member 1 (Augustine blood group) ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chrNW_004955437:9,850,279...9,862,412
Ensembl chrNW_004955437:9,855,434...9,861,929 		JBrowse link
Fetal Growth Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO mRNA:increased expression:placenta RGD PMID:16225763 RGD:2306659 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		JBrowse link
G Adipor1 adiponectin receptor 1 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352 		JBrowse link
G Adipor2 adiponectin receptor 2 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chrNW_004955454:4,243,898...4,327,255
Ensembl chrNW_004955454:4,243,898...4,327,308 		JBrowse link
G Agt angiotensinogen ISO mRNA,protein:increased expression:kidney,urine:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17537837 PMID:20530295 PMID:26270574 RGD:11538508 RGD:13432363 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO RGD PMID:21303825 RGD:5129179 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255 		JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:21303825 RGD:5129179 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248 		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 chrNW_004955507:1,892,087...1,946,526
Ensembl chrNW_004955507:1,892,061...1,946,703 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO protein:increased expression:serum (human) RGD PMID:25724728 RGD:14696679 NCBI chrNW_004955513:5,183,472...5,194,253
Ensembl chrNW_004955513:5,183,472...5,194,253 		JBrowse link
G Apoe apolipoprotein E ISO mRNA:increased expression:adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chrNW_004955478:5,612,258...5,626,061
Ensembl chrNW_004955478:5,610,164...5,626,020 		JBrowse link
G Arg1 arginase 1 ISO RNA:increased expression:thoracic aorta: RGD PMID:29741931 RGD:13792602 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO protein:increased expression:retroperitoneal fat pad (rat) RGD PMID:26633942 RGD:13703049 NCBI chrNW_004955402:31,652,226...31,662,114
Ensembl chrNW_004955402:31,651,960...31,662,762 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO protein:decreased expression:liver (rat) RGD PMID:26342040 RGD:13782135 NCBI chrNW_004955458:4,188,167...4,195,575
Ensembl chrNW_004955458:4,186,461...4,195,494 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244 		JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:22710965 RGD:9068402 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chrNW_004955430:3,450,151...3,796,983
Ensembl chrNW_004955430:3,268,953...3,794,592 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:3973436 RGD:2303532 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO mRNA:decreased expression:distal epiphyseal plate of femur (rat) RGD PMID:22995397 RGD:8661261 NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23667712 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO RGD PMID:3973436 RGD:2303532 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246 		JBrowse link
G Cth cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chrNW_004955423:21,542,587...21,567,935
Ensembl chrNW_004955423:21,542,179...21,567,786 		JBrowse link
G Ddx23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868 PMID:34050707 NCBI chrNW_004955500:7,685,954...7,698,880
Ensembl chrNW_004955500:7,685,954...7,695,765 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776119 NCBI chrNW_004955627:37,886...43,730
Ensembl chrNW_004955627:38,128...43,728 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA,protein:decreased expression:hippocampus:
mRNA:increased expression:adrenal gland:
mRNA:decreased expression:kidney:		 RGD PMID:12869365 PMID:16380407 PMID:24717552 RGD:9588242 RGD:9588619 RGD:9590296 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chrNW_004955422:28,380,595...28,427,012
Ensembl chrNW_004955422:28,380,591...28,421,301 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO RGD PMID:12487923 RGD:7771581 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381 		JBrowse link
G Dusp5 dual specificity phosphatase 5 ISO RGD PMID:16940436 RGD:2317872 NCBI chrNW_004955485:914,250...927,640
Ensembl chrNW_004955485:915,353...927,460 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Intrauterine growth restriction ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO mRNA:decreased expression:placenta RGD PMID:20008130 RGD:7488901 NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871 		JBrowse link
G Esrrg estrogen related receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:35220427 NCBI chrNW_004955406:1,260,240...1,784,652
Ensembl chrNW_004955406:1,560,485...1,788,250 		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 chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Faslg Fas ligand severity ISO protein:increased expression:amniotic fluid:
associated with protein:increased expression:serum:		 RGD PMID:16169656 PMID:23582102 RGD:12903972 RGD:12904025 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:decreased expression:placenta
mRNA:decreased expression:chorionic villus 		RGD PMID:25054679 RGD:329955538 NCBI chrNW_004955433:11,424,069...11,834,955
Ensembl chrNW_004955433:11,424,176...11,813,771 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO mRNA, protein:decreased expression:liver (rat)
mRNA:increased expression:liver		 RGD PMID:15448092 PMID:23744881 RGD:14695550 RGD:2315963 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812 		JBrowse link
G Ghsr growth hormone secretagogue receptor disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chrNW_004955420:2,483,173...2,486,414
Ensembl chrNW_004955420:2,478,877...2,487,215 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19500843 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chrNW_004955408:7,912,223...8,226,241
Ensembl chrNW_004955408:7,912,592...8,223,570 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:20423831 RGD:13210763 NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO mRNA:decreased expression RGD PMID:11124150 RGD:1599884 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869 		JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:adrenal gland:
protein:decreased expression, decreased activity:hippocampus:		 RGD PMID:16380407 PMID:18464933 PMID:24717552 RGD:2311214 RGD:9588242 RGD:9590296 NCBI chrNW_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864 		JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chrNW_004955526:2,739,099...2,759,640
Ensembl chrNW_004955526:2,728,377...2,759,707 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO DNA:altered methylation:prompter: RGD PMID:20126273 RGD:12904699 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chrNW_004955484:9,206,681...9,212,356
Ensembl chrNW_004955484:9,206,681...9,212,356 		JBrowse link
G Igf1 insulin like growth factor 1 treatment
onset		 ISO human protein in a rat model
protein:decreased expression:placenta labyrinth (rat)
mRNA:decreased expression:liver		 RGD PMID:9284279 PMID:15506645 PMID:19088829 PMID:24239160 RGD:12904720 RGD:12910460 RGD:1600258 RGD:2306715 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
G Igf1r insulin like growth factor 1 receptor onset ISO protein:decreased expression:placenta labyrinth (rat)
protein:increased expression:liver, lung (rat)
CTD Direct Evidence: marker/mechanism
DNA:point mutation:exon:p.R108Q, p.K115N (human)		 RGD
CTD		 PMID:12536576 PMID:14657428 PMID:24239160 RGD:12904720 RGD:12904724 RGD:1624299 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Igf2 insulin like growth factor 2 ISO mRNA:altered expresssion:liver,placenta:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:1408464 PMID:12087403 PMID:16040806 RGD:14985247 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO mRNA:increased expresssion:fetus: RGD PMID:1408464 RGD:14985247 NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO protein:increased expression:Amniotic fluid:
protein:increased expression:brain
mRNA:increased expression:placenta:
DNA:hypermethylation:promoter:
protein:decreased expression:serum:		 RGD PMID:15506645 PMID:16923367 PMID:19217707 PMID:19591553 PMID:21823995 More... RGD:10402581 RGD:12743583 RGD:12743585 RGD:12743590 RGD:12743599 RGD:1600258 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO mRNA,protein:decreased expression:growth plate: RGD PMID:22995397 RGD:8661261 NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO RGD PMID:20720385 RGD:7257699 NCBI chrNW_004955404:2,531,484...2,555,383
Ensembl chrNW_004955404:2,531,484...2,555,689 		JBrowse link
G Lep leptin ISO RGD PMID:21353474 RGD:5128507 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472 		JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO mRNA:increased expression:placenta RGD PMID:16225763 PMID:17706398 PMID:18442069 RGD:11576311 RGD:11576317 RGD:2306659 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488 		JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO mRNA:decreased expression:cerebrum (rat) RGD PMID:15563574 RGD:2317395 NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16380407 RGD:9588242 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17367869 PMID:28157488 RGD:13204803 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP: :401A>G(human)
DNA:SNP:cds:1958G>A(human)		 RGD PMID:18771981 PMID:22378735 PMID:25118499 RGD:12910955 RGD:12910958 RGD:12914148 NCBI chrNW_004955466:5,422,141...5,485,773
Ensembl chrNW_004955466:5,420,702...5,485,773 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chrNW_004955545:1,657,728...1,662,112 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:19287349 RGD:7349369 NCBI chrNW_004955476:11,108,826...11,135,697
Ensembl chrNW_004955476:11,108,826...11,135,697 		JBrowse link
G Muc4 mucin 4, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chrNW_004955420:12,228,801...12,274,840 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment ISO protein:decreased expression:placenta RGD PMID:23910525 PMID:25171874 RGD:10412716 RGD:26884462 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO associated with hyperinsulinemia; protein:decreased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO associated with hyperinsulinemia; protein:increased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with hyperinsulinemia; protein:decreased expression:placenta
CTD Direct Evidence: marker/mechanism
RNA, protein:increased expression:thoracic aorta:		 RGD
CTD		 PMID:19709742 PMID:22421449 PMID:23667712 PMID:29741931 RGD:13792602 RGD:5132592 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 PMID:20388836 RGD:2308941 RGD:4892120 NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221 		JBrowse link
G Orc1 origin recognition complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chrNW_004955464:6,761,046...6,787,144
Ensembl chrNW_004955464:6,764,992...6,787,066 		JBrowse link
G Otc ornithine transcarbamylase ISO mRNA:altered expression:liver (rat) RGD PMID:8929856 RGD:4144077 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO mRNA:decreased expression:liver: RGD PMID:12538794 RGD:10448276 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chrNW_004955460:8,328,400...8,346,755
Ensembl chrNW_004955460:8,326,891...8,346,550 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO mRNA:decreased expression:pancreatic islet
mRNA:decreased expression:pancreas (rat)		 RGD PMID:12606515 PMID:18464933 RGD:2311214 RGD:2311220 NCBI chrNW_004955497:7,281,886...7,307,969 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO mRNA:decreased expression:lung (rat) RGD PMID:21425435 RGD:8552971 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18433551 RGD:10059649 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO protein:decreased expression:placenta RGD PMID:25171874 RGD:26884462 NCBI chrNW_004955406:13,717,267...13,728,216
Ensembl chrNW_004955406:13,717,267...13,728,216 		JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO mRNA, protein:increased expression:placenta (rat) RGD PMID:15990166 RGD:10043194 NCBI chrNW_004955423:21,096,926...21,164,435 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 treatment ISO with postnatal growth restriction RGD PMID:19491300 RGD:12743586 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Rbp1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chrNW_004955508:6,046,738...6,072,202
Ensembl chrNW_004955508:6,046,316...6,072,288 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17537837 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286 		JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chrNW_004955432:9,957,521...9,972,622
Ensembl chrNW_004955432:9,957,677...9,962,389 		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 chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO RGD PMID:18464933 RGD:2311214 NCBI chrNW_004955450:2,804,551...2,870,450
Ensembl chrNW_004955450:2,808,130...2,870,450 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO protein:increased expression:placenta
mRNA, protein:increased expression:liver		 RGD PMID:9886959 PMID:11738800 RGD:12879480 RGD:730192 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA, protein:decreased expression:liver RGD PMID:9886959 RGD:12879480 NCBI chrNW_004955420:1,101,769...1,129,672
Ensembl chrNW_004955420:1,101,769...1,129,715 		JBrowse link
G Slc38a2 solute carrier family 38 member 2 ISO mRNA, protein:decreased expression:placenta RGD PMID:21812961 RGD:9999212 NCBI chrNW_004955500:5,517,323...5,530,055
Ensembl chrNW_004955500:5,516,039...5,531,758 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21893188 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:19017816 RGD:2308805 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046 		JBrowse link
G Star steroidogenic acute regulatory protein ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chrNW_004955463:13,760,089...13,765,245
Ensembl chrNW_004955463:13,760,089...13,765,244 		JBrowse link
G Tff3 trefoil factor 3 ISO RGD PMID:19287349 RGD:7349369 NCBI chrNW_004955407:39,398,534...39,401,085
Ensembl chrNW_004955407:39,398,074...39,401,248 		JBrowse link
G Unc13a unc-13 homolog A ISO RGD PMID:18787382 RGD:5686390 NCBI chrNW_004955524:725,353...769,745 JBrowse link
G Vdr vitamin D receptor ISO mRNA,protein:decreased expression:placenta: RGD PMID:25716068 RGD:11058690 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048 		JBrowse link
Fetal Hypoxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone ISO protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chrNW_004955444:12,989,210...12,991,300 JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chrNW_004955478:10,380,185...10,390,838
Ensembl chrNW_004955478:10,379,287...10,404,825 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO protein:decreased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chrNW_004955410:31,830,333...31,874,384
Ensembl chrNW_004955410:31,828,506...31,875,100 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:23427086 RGD:10395301 NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO protein:increased expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:17310378 RGD:1642145 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566 		JBrowse link
Fetal Inflammatory Response Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO associated with Premature Birth; RGD PMID:24832219 RGD:12801490 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
Fetal Macrosomia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf4a hepatocyte nuclear factor 4 alpha ISO DNA:mutations: : RGD PMID:17407387 PMID:19435144 RGD:12904698 RGD:12904767 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281 		JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845 		JBrowse link
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) RGD PMID:10600655 RGD:2308786 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766 		JBrowse link
Fetal Nutrition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chrNW_004955432:11,127,961...11,164,145
Ensembl chrNW_004955432:11,128,112...11,163,302 		JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22340208 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chrNW_004955468:2,715,728...2,734,174
Ensembl chrNW_004955468:2,714,419...2,734,830 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chrNW_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chrNW_004955440:10,755,658...10,881,044
Ensembl chrNW_004955440:10,756,014...10,795,491 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102007967 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383 		JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... NCBI chrNW_004955520:401,733...418,279 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:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chrNW_004955435:17,173,975...17,179,986 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 PMID:20301779 More... NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589 		JBrowse link
Hydrops Fetalis 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: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004955492:8,644,696...8,647,412
Ensembl chrNW_004955492:8,644,146...8,647,523 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004955442:12,752,468...12,775,081
Ensembl chrNW_004955442:12,752,008...12,775,081 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759 		JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chrNW_004955402:43,551,810...43,819,731
Ensembl chrNW_004955402:43,555,924...43,819,706 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004955445:11,399,151...11,405,069
Ensembl chrNW_004955445:11,399,151...11,405,069 		JBrowse link
G CUNH1orf105 chromosome unknown C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741913 PMID:26036949 NCBI chrNW_004955406:12,883,547...12,919,467
Ensembl chrNW_004955406:12,883,078...12,921,221 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004955464:4,533,928...4,557,893
Ensembl chrNW_004955464:4,533,928...4,558,133 		JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004955520:418,041...735,810 JBrowse link
G Dnah9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chrNW_004955467:5,357,500...5,677,144
Ensembl chrNW_004955467:5,357,500...5,677,755 		JBrowse link
G Ehbp1l1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004955422:19,670,778...19,689,008 JBrowse link
G Fcrl4 Fc receptor like 4 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741914 NCBI chrNW_004955468:9,478,180...9,503,127 JBrowse link
G Fen1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004955511:5,918,667...5,922,506
Ensembl chrNW_004955511:5,918,667...5,922,506 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More... NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:25741914 PMID:26036949 NCBI chrNW_004955417:27,465,730...27,493,752
Ensembl chrNW_004955417:27,465,701...27,494,790 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004955469:12,650,191...12,865,779
Ensembl chrNW_004955469:12,649,071...12,866,010 		JBrowse link
G Gusb glucuronidase beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643 		JBrowse link
G Kif19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004955553:1,219,462...1,247,161
Ensembl chrNW_004955553:1,218,659...1,248,879 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522 		JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004955445:7,470,030...7,472,323
Ensembl chrNW_004955445:7,470,888...7,472,267 		JBrowse link
G Mybphl myosin binding protein H like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004955435:12,705,467...12,725,320
Ensembl chrNW_004955435:12,705,467...12,725,320 		JBrowse link
G Myo18a myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004955481:4,020,274...4,115,014
Ensembl chrNW_004955481:4,028,706...4,113,878 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 PMID:31130284 NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004955511:5,927,103...5,949,289
Ensembl chrNW_004955511:5,927,698...5,942,242 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:25741868 PMID:25741916 PMID:26036949 More... NCBI chrNW_004955440:17,060,303...17,259,558
Ensembl chrNW_004955440:17,060,498...17,259,558 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chrNW_004955437:378,708...383,076
Ensembl chrNW_004955437:378,708...383,085 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004955408:29,416,393...29,547,444
Ensembl chrNW_004955408:29,413,595...29,542,768 		JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More... NCBI chrNW_004955541:2,618,167...2,655,349
Ensembl chrNW_004955541:2,618,438...2,643,771 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741913 PMID:26036949 NCBI chrNW_004955406:12,891,187...12,893,935
Ensembl chrNW_004955406:12,891,187...12,893,935 		JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004955511:5,546,212...5,552,368
Ensembl chrNW_004955511:5,545,989...5,557,792 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289 		JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More... NCBI chrNW_004955545:2,089,530...2,099,404
Ensembl chrNW_004955545:2,089,536...2,099,404 		JBrowse link
G Rock2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004955487:5,856,190...5,972,408
Ensembl chrNW_004955487:5,859,204...5,972,401 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004955416:712,506...1,260,111
Ensembl chrNW_004955416:713,373...1,259,885 		JBrowse link
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chrNW_004955485:430,493...517,767
Ensembl chrNW_004955485:430,493...517,126 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chrNW_004955481:6,867,175...6,917,548
Ensembl chrNW_004955481:6,867,175...6,917,548 		JBrowse link
G Svopl SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004955494:4,252,086...4,353,472
Ensembl chrNW_004955494:4,252,452...4,303,187 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741915 PMID:26036949 PMID:28749478 NCBI chrNW_004955431:5,472,209...5,495,937
Ensembl chrNW_004955431:5,472,287...5,495,995 		JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chrNW_004955442:12,627,530...12,654,159
Ensembl chrNW_004955442:12,627,530...12,654,159 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chrNW_004955486:1,515,630...1,772,107
Ensembl chrNW_004955486:1,513,712...1,767,956 		JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chrNW_004955420:26,342,129...26,446,959
Ensembl chrNW_004955420:26,343,649...26,441,736 		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 | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies OMIM
ClinVar		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chrNW_004955422:14,576,971...14,578,868 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: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ClinVar
OMIM		 PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 More... NCBI chrNW_004955482:373,467...418,000
Ensembl chrNW_004955482:373,555...417,266 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chrNW_004955432:20,790,404...20,869,521
Ensembl chrNW_004955432:20,808,499...20,871,886 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:26036949 PMID:28749478 PMID:30055085 More... NCBI chrNW_004955431:5,472,209...5,495,937
Ensembl chrNW_004955431:5,472,287...5,495,995 		JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004955403:11,016,753...11,118,494
Ensembl chrNW_004955403:11,080,874...11,118,494 		JBrowse link
meconium aspiration syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO mRNA:increased expression:lung RGD PMID:14605247 RGD:11039054 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Agtr2 angiotensin II receptor type 2 treatment ISO RGD PMID:14605247 RGD:11039054 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248 		JBrowse link
G Atf2 activating transcription factor 2 ISO MouseDO NCBI chrNW_004955449:332,563...411,218
Ensembl chrNW_004955449:338,193...411,218 		JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO protein:increased expression:broncho-alveolar lavage fluid, meconium: RGD PMID:21567110 RGD:5144123 NCBI chrNW_004955599:688,414...690,644 JBrowse link
Megaduodenum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Megacystis ClinVar PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 More... NCBI chrNW_004955424:11,779,805...11,802,446
Ensembl chrNW_004955424:11,779,597...11,802,446 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Fetal megacystis ClinVar PMID:25741868 NCBI chrNW_004955541:1,341,715...1,345,397
Ensembl chrNW_004955541:1,317,114...1,346,590 		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:25741868 PMID:28492532 NCBI chrNW_004955407:42,735,078...42,835,851
Ensembl chrNW_004955407:42,735,188...42,835,465 		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: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chrNW_004955459:8,382,671...8,628,048
Ensembl chrNW_004955459:8,408,160...8,629,344 		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: PCNT-related condition OMIM
ClinVar		 PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955407:42,735,078...42,835,851
Ensembl chrNW_004955407:42,735,188...42,835,465 		JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chrNW_004955453:3,433,915...3,440,534
Ensembl chrNW_004955453:3,433,341...3,440,269 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chrNW_004955453:3,425,603...3,432,695
Ensembl chrNW_004955453:3,425,603...3,432,695 		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 OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412 		JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25741905 PMID:25795793 PMID:28492532 PMID:30368668 More... NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028 		JBrowse link
Perlman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,202,540...4,294,548
Ensembl chrNW_004955453:4,203,941...4,294,548 		JBrowse link
G Atg16l1 autophagy related 16 like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:2,884,497...2,917,581
Ensembl chrNW_004955453:2,880,928...2,917,581 		JBrowse link
G B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,178,544...4,180,738
Ensembl chrNW_004955453:4,179,547...4,180,737 		JBrowse link
G Cab39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,582,530...4,670,978
Ensembl chrNW_004955453:4,582,530...4,671,157 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,433,915...3,440,534
Ensembl chrNW_004955453:3,433,341...3,440,269 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,425,603...3,432,695
Ensembl chrNW_004955453:3,425,603...3,432,695 		JBrowse link
G Cops7b COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,967,241...3,991,802
Ensembl chrNW_004955453:3,967,241...3,986,314 		JBrowse link
G Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:25099282 PMID:28492532 NCBI chrNW_004955414:26,347,508...26,373,726
Ensembl chrNW_004955414:26,347,508...26,373,785 		JBrowse link
G Dgkd diacylglycerol kinase delta ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:2,740,922...2,802,669
Ensembl chrNW_004955453:2,742,842...2,835,811 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:25741868 NCBI chrNW_004955404:33,897,681...33,924,069
Ensembl chrNW_004955404:33,897,237...33,924,069 		JBrowse link
G Dis3l2 DIS3 like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Perlman syndrome OMIM
ClinVar		 PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chrNW_004955453:3,558,744...3,851,222
Ensembl chrNW_004955453:3,559,067...3,830,064 		JBrowse link
G Dnajb3 DnaJ heat shock protein family (Hsp40) member B3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:2,399,155...2,400,158 JBrowse link
G Efhd1 EF-hand domain family member D1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,344,919...3,378,157 JBrowse link
G Eif4e2 eukaryotic translation initiation factor 4E family member 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,395,483...3,424,649
Ensembl chrNW_004955453:3,395,483...3,424,649 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,201,593...3,301,541
Ensembl chrNW_004955453:3,203,358...3,301,547 		JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,470,602...4,520,036 JBrowse link
G Hjurp Holliday junction recognition protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:2,323,018...2,335,090
Ensembl chrNW_004955453:2,322,446...2,334,588 		JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,352,278...4,367,807
Ensembl chrNW_004955453:4,351,668...4,367,807 		JBrowse link
G Itm2c integral membrane protein 2C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,546,736...4,557,649
Ensembl chrNW_004955453:4,543,476...4,557,757 		JBrowse link
G Kcnj13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,259,924...3,269,394
Ensembl chrNW_004955453:3,249,602...3,269,394 		JBrowse link
G LOC106149796 chromosome unknown open reading frame, human C2orf72 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,408,122...4,419,182 JBrowse link
G Mroh2a maestro heat like repeat family member 2A ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:2,337,900...2,382,891
Ensembl chrNW_004955453:2,338,039...2,381,717 		JBrowse link
G Ncl nucleolin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,154,627...4,164,253
Ensembl chrNW_004955453:4,154,627...4,164,253 		JBrowse link
G Neu2 neuraminidase 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,054,626...3,063,070
Ensembl chrNW_004955453:3,052,297...3,061,791 		JBrowse link
G Ngef neuronal guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,082,826...3,186,039
Ensembl chrNW_004955453:3,082,628...3,186,039 		JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,118,532...4,126,143
Ensembl chrNW_004955453:4,120,110...4,124,927 		JBrowse link
G Nppc natriuretic peptide C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,884,580...3,888,494
Ensembl chrNW_004955453:3,884,560...3,888,850 		JBrowse link
G Pde6d phosphodiesterase 6D ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,992,160...4,024,695
Ensembl chrNW_004955453:3,992,160...4,024,695 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,440,871...3,446,090
Ensembl chrNW_004955453:3,441,109...3,446,090 		JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,314,177...4,397,972
Ensembl chrNW_004955453:4,314,177...4,397,975 		JBrowse link
G Ptma prothymosin alpha ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,036,503...4,037,788 JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:2,845,561...2,878,342
Ensembl chrNW_004955453:2,844,925...2,878,846 		JBrowse link
G Snorc secondary ossification center associated regulator of chondrocyte maturation ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:3,187,624...3,192,605
Ensembl chrNW_004955453:3,187,672...3,191,662 		JBrowse link
G Sp100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,774,739...4,856,238
Ensembl chrNW_004955453:4,773,030...4,853,814 		JBrowse link
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,915,541...4,939,438 JBrowse link
G Sp140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,864,812...4,911,699 JBrowse link
G Spata3 spermatogenesis associated 3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,435,819...4,453,138 JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:2,130,606...2,158,603
Ensembl chrNW_004955453:2,129,725...2,158,715 		JBrowse link
G Tex44 testis expressed 44 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:4,108,596...4,110,610 JBrowse link
G Trpm8 transient receptor potential cation channel subfamily M member 8 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:2,185,534...2,265,261
Ensembl chrNW_004955453:2,185,534...2,265,261 		JBrowse link
G Usp40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004955453:2,661,233...2,739,742
Ensembl chrNW_004955453:2,661,213...2,739,146 		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 term: PANCREATIC AND CEREBELLAR AGENESIS OMIM
ClinVar		 PMID:10507728 PMID:15543146 PMID:18591390 PMID:20065546 PMID:21749365 More... NCBI chrNW_004955429:5,807,804...5,809,522
Ensembl chrNW_004955429:5,808,124...5,809,522 		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 OMIM
ClinVar		 PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 More... NCBI chrNW_004955497:432,595...497,335
Ensembl chrNW_004955497:430,461...477,065 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 4 ClinVar PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 More... NCBI chrNW_004955497:282,559...429,999
Ensembl chrNW_004955497:282,653...430,371 		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: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		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 chrNW_004955437:467,018...473,084
Ensembl chrNW_004955437:466,690...473,084 		JBrowse link
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 More... NCBI chrNW_004955437:473,192...482,811
Ensembl chrNW_004955437:473,192...482,811 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 More... NCBI chrNW_004955418:16,989,400...17,068,479
Ensembl chrNW_004955418:16,989,400...17,069,441 		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:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 More... NCBI chrNW_004955494:1,924,026...2,041,914
Ensembl chrNW_004955494:1,924,026...2,021,778 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 OMIM
ClinVar		 PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 More... NCBI chrNW_004955418:16,989,400...17,068,479
Ensembl chrNW_004955418:16,989,400...17,069,441 		JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 More... NCBI chrNW_004955437:473,192...482,811
Ensembl chrNW_004955437:473,192...482,811 		JBrowse link
Wiedemann-Rautenstrauch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome OMIM
ClinVar		 PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 More... NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 More... NCBI chrNW_004955506:1,231,874...1,236,550
Ensembl chrNW_004955506:1,231,863...1,236,550 		JBrowse link
X-linked Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpkow G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Holoprosencephaly with fetal akinesia/hypokinesia sequence ClinVar NCBI chrNW_004955543:625,247...633,065 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        Fetal Diseases 324
          Diabetic Embryopathy 1
          Echogenic Bowel 0
          Fetal Growth Retardation + 184
          Fetal Hypoxia 6
          Fetal Inflammatory Response Syndrome 1
          Fetal Macrosomia + 46
          Fetal Nutrition Disorders 6
          Megaduodenum 2
          Multiple Pterygium Syndrome, Lethal Type + 3
          Nuchal Cord 0
          Pyelectasis 0
          chorioamnionitis + 9
          fetal alcohol spectrum disorder + 32
          fetal encasement syndrome 1
          fetal erythroblastosis + 60
          meconium aspiration syndrome 4
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Urogenital Diseases 4392
        Female Urogenital Diseases and Pregnancy Complications 2183
          Pregnancy Complications 674
            Fetal Diseases 324
              Diabetic Embryopathy 1
              Echogenic Bowel 0
              Fetal Growth Retardation + 184
              Fetal Hypoxia 6
              Fetal Inflammatory Response Syndrome 1
              Fetal Macrosomia + 46
              Fetal Nutrition Disorders 6
              Megaduodenum 2
              Multiple Pterygium Syndrome, Lethal Type + 3
              Nuchal Cord 0
              Pyelectasis 0
              chorioamnionitis + 9
              fetal alcohol spectrum disorder + 32
              fetal encasement syndrome 1
              fetal erythroblastosis + 60
              meconium aspiration syndrome 4
paths to the root