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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
|
IEP |
mRNA:increased expression:placenta |
RGD |
PMID:16225763 |
RGD:2306659 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Ace |
angiotensin I converting enzyme |
|
IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:24847689 |
RGD:12879387 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Acta2 |
actin alpha 2, smooth muscle |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
|
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
treatment |
IEP |
|
RGD |
PMID:23533720 |
RGD:8695947 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Adipor1 |
adiponectin receptor 1 |
treatment |
IEP |
|
RGD |
PMID:23533720 |
RGD:8695947 |
NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
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G |
Adipor2 |
adiponectin receptor 2 |
treatment |
IEP |
|
RGD |
PMID:23533720 |
RGD:8695947 |
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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G |
Agt |
angiotensinogen |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:kidney,urine: |
CTD RGD |
PMID:17537837 PMID:26270574 PMID:20530295 |
RGD:11538508, RGD:13432363 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
|
IEP |
|
RGD |
PMID:21303825 |
RGD:5129179 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Agtr2 |
angiotensin II receptor, type 2 |
|
IEP |
|
RGD |
PMID:21303825 |
RGD:5129179 |
NCBI chr X:112,119,673...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
|
ISO |
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) |
RGD |
PMID:26320891 |
RGD:13434923 |
NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
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G |
Anapc2 |
anaphase promoting complex subunit 2 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:25724728 |
RGD:14696679 |
NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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G |
Apoe |
apolipoprotein E |
|
IEP |
mRNA:increased expression:adrenal gland (rat) |
RGD |
PMID:19923365 |
RGD:4891147 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Apoh |
apolipoprotein H |
|
ISO |
|
RGD |
PMID:24642748 |
RGD:10054118 |
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
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G |
Arg1 |
arginase 1 |
|
IEP |
RNA:increased expression:thoracic aorta: |
RGD |
PMID:29741931 |
RGD:13792602 |
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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G |
Atp5f1a |
ATP synthase F1 subunit alpha |
|
IEP |
protein:increased expression:retroperitoneal fat pad (rat) |
RGD |
PMID:26633942 |
RGD:13703049 |
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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G |
Atp5f1b |
ATP synthase F1 subunit beta |
|
IEP |
protein:decreased expression:liver (rat) |
RGD |
PMID:26342040 |
RGD:13782135 |
NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:22932950 |
RGD:10054114 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:22932950 |
RGD:10054114 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bmp4 |
bone morphogenetic protein 4 |
|
IEP |
|
RGD |
PMID:22710965 |
RGD:9068402 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
IEP |
protein:decreased expression:pancreas (rat) |
RGD |
PMID:20873977 |
RGD:152985538 |
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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G |
Cacna1d |
calcium voltage-gated channel subunit alpha1 D |
|
IEP |
protein:decreased expression:pancreas (rat) |
RGD |
PMID:20873977 |
RGD:152985538 |
NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
IEP |
|
RGD |
PMID:3973436 |
RGD:2303532 |
NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
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G |
Casp3 |
caspase 3 |
treatment |
IEP |
|
RGD |
PMID:22932950 |
RGD:10054114 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Col2a1 |
collagen type II alpha 1 chain |
|
IEP |
mRNA:decreased expression:distal epiphyseal plate of femur (rat) |
RGD |
PMID:22995397 |
RGD:8661261 |
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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G |
Comt |
catechol-O-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23667712 |
|
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
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IEP |
|
RGD |
PMID:3973436 |
RGD:2303532 |
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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G |
Cth |
cystathionine gamma-lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
|
NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
|
IEP |
mRNA:increased expression:adrenal gland, maternal (rat) |
RGD |
PMID:17881205 |
RGD:4832477 |
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Cyp11b1 |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
|
IEP |
protein:decreased expression:fetus, adrenal gland (rat) |
RGD |
PMID:19923365 |
RGD:4891147 |
NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
|
IEP |
mRNA:increased expression:fetus, adrenal gland (rat) |
RGD |
PMID:19923365 |
RGD:4891147 |
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
IEP ISO |
mRNA:increased expression:placenta |
RGD |
PMID:16225763 PMID:18442069 PMID:17706398 |
RGD:2306659, RGD:11576311, RGD:11576317 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Ddx23 |
DEAD-box helicase 23 |
|
ISO |
ClinVar Annotator: match by term: Intrauterine growth retardation |
ClinVar |
PMID:25741868 PMID:34050707 |
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NCBI chr 7:129,797,620...129,814,909
Ensembl chr 7:129,797,614...129,814,949
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G |
Des |
desmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
|
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27776119 |
|
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
IEP |
mRNA,protein:decreased expression:hippocampus: mRNA:decreased expression:kidney: mRNA:increased expression:adrenal gland: |
RGD |
PMID:16380407 PMID:12869365 PMID:24717552 |
RGD:9588242, RGD:9588619, RGD:9590296 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
|
IEP |
mRNA:increased expression:adrenal gland: |
RGD |
PMID:24717552 |
RGD:9590296 |
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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G |
Dusp1 |
dual specificity phosphatase 1 |
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IEP |
|
RGD |
PMID:12487923 |
RGD:7771581 |
NCBI chr10:16,680,489...16,683,276
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G |
Dusp5 |
dual specificity phosphatase 5 |
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IEP |
|
RGD |
PMID:16940436 |
RGD:2317872 |
NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818
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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 PMID:29068549 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Elk1 |
ETS transcription factor ELK1 |
|
ISO |
mRNA:decreased expression:placenta |
RGD |
PMID:20008130 |
RGD:7488901 |
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
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G |
Esrrg |
estrogen-related receptor gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35220427 |
|
NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397
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G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human) associated with protein:increased expression:serum: |
RGD |
PMID:15695771 PMID:16169656 |
RGD:12903973, RGD:12904025 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
severity |
ISO |
protein:increased expression:amniotic fluid: associated with protein:increased expression:serum: |
RGD |
PMID:23582102 PMID:16169656 |
RGD:12903972, RGD:12904025 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
G6pc1 |
glucose-6-phosphatase catalytic subunit 1 |
|
IEP |
mRNA:increased expression:liver mRNA, protein:decreased expression:liver (rat) |
RGD |
PMID:15448092 PMID:23744881 |
RGD:2315963, RGD:14695550 |
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
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G |
Ghrl |
ghrelin and obestatin prepropeptide |
disease_progression |
IEP |
|
RGD |
PMID:20637157 |
RGD:12904883 |
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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G |
Ghsr |
growth hormone secretagogue receptor |
disease_progression |
IEP |
|
RGD |
PMID:20637157 |
RGD:12904883 |
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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G |
Glud1 |
glutamate dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19500843 |
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NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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G |
Gria1 |
glutamate ionotropic receptor AMPA type subunit 1 |
|
IEP |
protein:decreased expression:cerebral cortical neuron (rat) |
RGD |
PMID:20398734 |
RGD:4107070 |
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
IEP |
protein:decreased expression:cerebral cortical neuron (rat) |
RGD |
PMID:20398734 |
RGD:4107070 |
NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
treatment |
IEP |
|
RGD |
PMID:20423831 |
RGD:13210763 |
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion:: (human) |
RGD |
PMID:22310945 PMID:19147266 |
RGD:10450795, RGD:12792219 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion, haplotype:: (human) DNA:deletion:: (human) |
RGD |
PMID:22310945 PMID:19147266 |
RGD:10450795, RGD:12792219 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Hadha |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
|
IEP |
mRNA:decreased expression |
RGD |
PMID:11124150 |
RGD:1599884 |
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
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G |
Hdac1 |
histone deacetylase 1 |
|
IDA IEP |
mRNA:increased expression:adrenal gland: protein:decreased expression, decreased activity:hippocampus: |
RGD |
PMID:18464933 PMID:24717552 PMID:16380407 |
RGD:2311214, RGD:9590296, RGD:9588242 |
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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G |
Hdac2 |
histone deacetylase 2 |
|
IEP |
mRNA:increased expression:adrenal gland: |
RGD |
PMID:24717552 |
RGD:9590296 |
NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Hnf4a |
hepatocyte nuclear factor 4, alpha |
|
ISO |
DNA:altered methylation:prompter: |
RGD |
PMID:20126273 |
RGD:12904699 |
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
IEP |
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17272666 |
RGD:2308941 |
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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G |
Igf1 |
insulin-like growth factor 1 |
treatment onset |
IEP ISO |
mRNA:decreased expression:liver protein:decreased expression:placenta labyrinth (rat) human protein in a rat model |
RGD |
PMID:19088829 PMID:15506645 PMID:24239160 PMID:9284279 |
RGD:2306715, RGD:1600258, RGD:12904720, RGD:12910460 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
onset |
ISO IEP |
DNA:point mutation:exon:p.R108Q, p.K115N (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:placenta labyrinth (rat) protein:increased expression:liver, lung (rat) |
CTD RGD |
PMID:14657428 PMID:14657428 PMID:24239160 PMID:12536576 |
RGD:1624299, RGD:12904720, RGD:12904724 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Igf2 |
insulin-like growth factor 2 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:altered expresssion:liver,placenta: |
CTD RGD |
PMID:12087403 PMID:16040806 PMID:1408464 |
RGD:14985247 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Igf2r |
insulin-like growth factor 2 receptor |
|
IEP |
mRNA:increased expresssion:fetus: |
RGD |
PMID:1408464 |
RGD:14985247 |
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
treatment |
IEP ISO |
protein:increased expression:brain DNA:hypermethylation:promoter: mRNA:increased expression:placenta: protein:decreased expression:serum: protein:increased expression:Amniotic fluid: |
RGD |
PMID:16923367 PMID:15506645 PMID:21924014 PMID:21823995 PMID:19591553 PMID:19217707 More...
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RGD:10402581, RGD:1600258, RGD:12743583, RGD:12743585, RGD:12743590, RGD:12743599 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:11005132 |
RGD:2311066 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Irs1 |
insulin receptor substrate 1 |
|
IEP |
mRNA,protein:decreased expression:growth plate: |
RGD |
PMID:22995397 |
RGD:8661261 |
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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G |
Irs2 |
insulin receptor substrate 2 |
|
IEP |
|
RGD |
PMID:20720385 |
RGD:7257699 |
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
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G |
Lep |
leptin |
|
IDA |
|
RGD |
PMID:21353474 |
RGD:5128507 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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|
G |
Mdm2 |
MDM2 proto-oncogene |
|
IEP |
mRNA:decreased expression:cerebrum (rat) |
RGD |
PMID:15563574 |
RGD:2317395 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
IEP |
mRNA,protein:decreased expression:hippocampus: |
RGD |
PMID:16380407 |
RGD:9588242 |
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
DNA:SNP:promoter:-1306C>T (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28157488 PMID:17367869 |
RGD:13204803 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
susceptibility |
ISO |
DNA:SNP:cds:1958G>A(human) DNA:SNP: :401A>G(human) |
RGD |
PMID:22378735 PMID:18771981 PMID:25118499 |
RGD:12910955, RGD:12914148, RGD:12910958 |
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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G |
Muc1 |
mucin 1, cell surface associated |
|
IEP |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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IEP |
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RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Muc4 |
mucin 4, cell surface associated |
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IEP |
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RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr11:68,008,245...68,053,229
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Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
IEP ISO |
protein:decreased expression:placenta |
RGD |
PMID:23910525 PMID:25171874 PMID:25171874 |
RGD:10412716, RGD:26884462, RGD:26884462 |
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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Nos1 |
nitric oxide synthase 1 |
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IEP |
associated with hyperinsulinemia; protein:decreased expression:placenta |
RGD |
PMID:19709742 |
RGD:5132592 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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G |
Nos2 |
nitric oxide synthase 2 |
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IEP |
associated with hyperinsulinemia; protein:increased expression:placenta |
RGD |
PMID:19709742 |
RGD:5132592 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
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IEP ISO |
associated with hyperinsulinemia; protein:decreased expression:placenta RNA, protein:increased expression:thoracic aorta: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22421449 PMID:23667712 PMID:19709742 PMID:29741931 |
RGD:5132592, RGD:13792602 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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IEP IDA |
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17272666 PMID:20388836 |
RGD:2308941, RGD:4892120 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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G |
Orc1 |
origin recognition complex, subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21358633 |
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NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
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G |
Otc |
ornithine transcarbamylase |
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IEP |
mRNA:altered expression:liver (rat) |
RGD |
PMID:8929856 |
RGD:4144077 |
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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G |
Pck1 |
phosphoenolpyruvate carboxykinase 1 |
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IEP |
mRNA:decreased expression:liver: |
RGD |
PMID:12538794 |
RGD:10448276 |
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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G |
Pdgfa |
platelet derived growth factor subunit A |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:11005132 |
RGD:2311066 |
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
mRNA:increased expression:placenta |
RGD |
PMID:11005132 |
RGD:2311066 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdx1 |
pancreatic and duodenal homeobox 1 |
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IEP IDA |
mRNA:decreased expression:pancreas (rat) mRNA:decreased expression:pancreatic islet |
RGD |
PMID:12606515 PMID:18464933 |
RGD:2311220, RGD:2311214 |
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
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IEP |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:21425435 |
RGD:8552971 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
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IEP |
mRNA, protein:increased expression:liver (rat) |
RGD |
PMID:18433551 |
RGD:10059649 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Prdx6 |
peroxiredoxin 6 |
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ISO IEP |
protein:decreased expression:placenta |
RGD |
PMID:25171874 PMID:25171874 |
RGD:26884462, RGD:26884462 |
NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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G |
Ptger3 |
prostaglandin E receptor 3 |
|
IEP |
mRNA, protein:increased expression:placenta (rat) |
RGD |
PMID:15990166 |
RGD:10043194 |
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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IEP |
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17272666 |
RGD:2308941 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
treatment |
IEP |
with postnatal growth restriction |
RGD |
PMID:19491300 |
RGD:12743586 |
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Rbp1 |
retinol binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
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NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743
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G |
Ren |
renin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17537837 |
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NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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G |
Samd9 |
sterile alpha motif domain containing 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27182967 |
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NCBI chr 4:31,164,639...31,184,325
Ensembl chr 4:31,164,510...31,184,322
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: |
RGD |
PMID:8018914 |
RGD:13208595 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Sin3a |
SIN3 transcription regulator family member A |
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IDA |
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RGD |
PMID:18464933 |
RGD:2311214 |
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
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G |
Slc2a1 |
solute carrier family 2 member 1 |
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IEP |
protein:increased expression:placenta mRNA, protein:increased expression:liver |
RGD |
PMID:11738800 PMID:9886959 |
RGD:730192, RGD:12879480 |
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Slc2a2 |
solute carrier family 2 member 2 |
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IEP |
mRNA, protein:decreased expression:liver |
RGD |
PMID:9886959 |
RGD:12879480 |
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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G |
Slc2a3 |
solute carrier family 2 member 3 |
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IEP |
protein:increased expression:placenta |
RGD |
PMID:11738800 |
RGD:730192 |
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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G |
Slc38a2 |
solute carrier family 38, member 2 |
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IEP |
mRNA, protein:decreased expression:placenta |
RGD |
PMID:21812961 |
RGD:9999212 |
NCBI chr 7:127,851,267...127,863,482
Ensembl chr 7:127,851,267...127,863,436
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21893188 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
IEP |
|
RGD |
PMID:19017816 |
RGD:2308805 |
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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G |
Srebf1_v2 |
sterol regulatory element binding factor 1, variant 2 |
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IEP |
|
RGD |
PMID:19017816 |
RGD:2308805 |
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G |
Star |
steroidogenic acute regulatory protein |
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IEP |
mRNA:increased expression:adrenal gland, maternal (rat) |
RGD |
PMID:17881205 |
RGD:4832477 |
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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G |
Tff3 |
trefoil factor 3 |
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IEP |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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G |
Unc13a |
unc-13 homolog A |
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IEP |
|
RGD |
PMID:18787382 |
RGD:5686390 |
NCBI chr16:18,336,229...18,381,811
Ensembl chr16:18,336,229...18,381,872
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G |
Vdr |
vitamin D receptor |
|
ISO |
mRNA,protein:decreased expression:placenta: |
RGD |
PMID:25716068 |
RGD:11058690 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Xdh |
xanthine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Intrauterine growth restriction |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Bowen-Conradi syndrome |
OMIM ClinVar |
PMID:19463982 PMID:25741868 PMID:28492532 |
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NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:2261499 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 PMID:18165682 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:25033858 PMID:25237101 PMID:25326637 PMID:25557462 PMID:25741868 PMID:26467025 PMID:26583494 PMID:27391121 PMID:28492532 PMID:29054425 More...
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NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 PMID:22326364 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
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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 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 More...
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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G |
Acp2 |
acid phosphatase 2, lysosomal |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
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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 |
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NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
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G |
Aldh5a1 |
aldehyde dehydrogenase 5 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
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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 |
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NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455
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G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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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 |
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NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
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G |
Aspm |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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G |
Aven |
apoptosis and caspase activation inhibitor |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
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G |
Bltp1 |
bridge-like lipid transfer protein family member 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
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G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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G |
Cntnap1 |
contactin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
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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 |
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NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274
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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 chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
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G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18414213 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20603078 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:22884442 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25557462 PMID:25625551 PMID:25741868 PMID:25849006 PMID:26436962 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28024842 PMID:28492532 PMID:28508085 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31618753 PMID:31880392 PMID:32331917 PMID:33146414 More...
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NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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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 chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590
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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 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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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 chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
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G |
Exosc3 |
exosome component 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:22544365 PMID:23883322 PMID:25741868 PMID:28053271 PMID:28492532 PMID:30221345 More...
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NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
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G |
Fbln1 |
fibulin 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25558065 |
|
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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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 chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
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G |
Gcn1 |
GCN1 activator of EIF2AK4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555
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G |
Gfra4 |
GDNF family receptor alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
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G |
Gldn |
gliomedin |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
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G |
Iqsec3 |
IQ motif and Sec7 domain ArfGEF 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310
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G |
Lgi4 |
leucine-rich repeat LGI family, member 4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
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G |
Lrp4 |
LDL receptor related protein 4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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G |
Madd |
MAP-kinase activating death domain |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
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G |
Magi3 |
membrane associated guanylate kinase, WW and PDZ domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735
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G |
Musk |
muscle associated receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
OMIM ClinVar |
PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20371544 PMID:23326516 PMID:24122059 PMID:24183479 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25640679 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:28518170 PMID:29663639 PMID:30429133 PMID:30719842 PMID:31750350 PMID:31974414 PMID:32253145 PMID:32732226 More...
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NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
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G |
Mybpc3 |
myosin binding protein C3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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G |
Naga |
alpha-N-acetylgalactosaminidase |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
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G |
Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:27214504 PMID:31680123 |
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NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
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G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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G |
Pacsin3 |
protein kinase C and casein kinase substrate in neurons 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123 More...
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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G |
Prg4 |
proteoglycan 4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
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G |
Prickle1 |
prickle planar cell polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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G |
Psmc3 |
proteasome 26S subunit, ATPase 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
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G |
Rapsn |
receptor-associated protein of the synapse |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders |
ClinVar |
PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16199547 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17576681 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:19620612 PMID:20157724 PMID:20301347 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:22678886 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:27966543 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:29478601 PMID:30124556 PMID:30266093 PMID:30266223 PMID:31127727 PMID:31680123 PMID:31965297 PMID:32070632 PMID:32528171 PMID:33255631 PMID:33502061 PMID:34106991 More...
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NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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G |
Ryr1 |
ryanodine receptor 1 |
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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 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 More...
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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G |
Ryr3 |
ryanodine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Setbp1 |
SET binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123 PMID:34782754 More...
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NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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G |
Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
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G |
Spag16 |
sperm associated antigen 16 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 9:71,333,005...72,252,772
Ensembl chr 9:71,332,992...72,252,708
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G |
Spi1 |
Spi-1 proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
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NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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G |
Svep1 |
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:72,811,200...72,988,813
Ensembl chr 5:72,811,410...72,988,525
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G |
Tmpo |
thymopoietin |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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G |
Txn1 |
thioredoxin 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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G |
Txndc8 |
thioredoxin domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:72,749,725...72,785,858
Ensembl chr 5:72,749,725...72,785,931
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G |
Unc50 |
unc-50 inner nuclear membrane RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 9:39,664,944...39,674,369
Ensembl chr 9:39,664,971...39,672,890
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G |
Vps13d |
vacuolar protein sorting 13 homolog D |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
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G |
Rapsn |
receptor-associated protein of the synapse |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 |
OMIM ClinVar |
PMID:2245297 PMID:12651869 PMID:14504330 PMID:15036330 PMID:15145336 PMID:15282317 PMID:18179903 PMID:18252226 PMID:19620612 PMID:21520333 PMID:22326364 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
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G |
Dock7 |
dedicator of cytokinesis 7 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
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G |
Dok7 |
docking protein 7 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 |
OMIM ClinVar |
PMID:2261499 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 PMID:18165682 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:25033858 PMID:25237101 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26583494 PMID:27391121 PMID:28492532 PMID:29054425 PMID:31880392 More...
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NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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G |
Nup88 |
nucleoporin 88 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 |
OMIM ClinVar |
PMID:25741868 PMID:30543681 |
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NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257
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G |
Rabep1 |
rabaptin, RAB GTPase binding effector protein 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 |
ClinVar |
PMID:25741868 |
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NCBI chr10:55,566,156...55,667,595
Ensembl chr10:55,566,185...55,665,973
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G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:33511646 More...
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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G |
Cux2 |
cut-like homeobox 2 |
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ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806
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G |
Trrap |
transformation/transcription domain-associated protein |
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ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674
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G |
Ap4b1 |
adaptor related protein complex 4 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
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G |
Dclre1b |
DNA cross-link repair 1B |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 PMID:35007328 |
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NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 PMID:20301779 PMID:28492532 PMID:31027506 More...
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) |
RGD |
PMID:23959892 |
RGD:152977765 |
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Syt6 |
synaptotagmin 6 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
CTD ClinVar |
PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 |
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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G |
Cdkn1c |
cyclin-dependent kinase inhibitor 1C |
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ISO |
ClinVar Annotator: match by term: IMAGe syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 PMID:24098681 PMID:24313804 PMID:24624461 PMID:25057881 PMID:25262539 PMID:25614875 PMID:25741868 PMID:28492532 PMID:28546232 PMID:30374176 PMID:31630891 PMID:31976094 PMID:33076988 PMID:34098225 More...
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NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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G |
Pole |
DNA polymerase epsilon, catalytic subunit |
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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 |
OMIM ClinVar |
PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 PMID:21129811 PMID:23230001 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:25948378 PMID:26467025 PMID:28492532 PMID:29056344 PMID:29754823 PMID:30503519 More...
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NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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G |
Pcnt |
pericentrin |
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ISO |
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism |
ClinVar |
PMID:18414213 PMID:28492532 |
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NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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G |
Clasp1 |
cytoplasmic linker associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 |
ClinVar |
PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:21990275 PMID:22581640 PMID:23794361 PMID:24865609 PMID:25741868 PMID:25741869 PMID:26419500 PMID:26522830 PMID:26641461 PMID:27040866 PMID:28492532 PMID:28623346 PMID:28669401 PMID:29165669 PMID:29263834 PMID:29265708 PMID:29391254 PMID:30214071 PMID:30368667 PMID:30455926 PMID:32109076 PMID:32581362 PMID:32595695 PMID:32628740 PMID:33059947 More...
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NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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Pkp2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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Pcnt |
pericentrin |
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ISO |
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human) DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 PMID:18157127 PMID:18174396 PMID:18414213 PMID:19448849 PMID:19643772 PMID:19839044 PMID:19937158 PMID:21195721 PMID:21567919 PMID:22821869 PMID:23033978 PMID:24033266 PMID:24928221 PMID:25326635 PMID:25363768 PMID:25741868 PMID:27124789 PMID:27323140 PMID:27900370 PMID:28492532 PMID:30214071 PMID:30922925 PMID:32267100 PMID:32818659 PMID:18157127 PMID:19643772 PMID:18174396 PMID:21567919 More...
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RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400 |
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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Phgdh |
phosphoglycerate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 |
OMIM ClinVar |
PMID:11034457 PMID:11055895 PMID:14645240 PMID:16199547 PMID:19235232 PMID:20196394 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:26960553 PMID:28492532 PMID:29018476 PMID:32404165 PMID:33758422 More...
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NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944
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Psat1 |
phosphoserine aminotransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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Ptf1a |
pancreas associated transcription factor 1a |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS |
OMIM CTD ClinVar |
PMID:10507728 PMID:15543146 PMID:18591390 PMID:19650412 PMID:20065546 PMID:21749365 PMID:25741868 PMID:25775927 PMID:28492532 More...
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NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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Cenpj |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Seckel syndrome 4 DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human) |
OMIM ClinVar RGD |
PMID:18414213 PMID:20301772 PMID:20522431 PMID:20978018 PMID:24033266 PMID:24402816 PMID:25741868 PMID:26467025 PMID:26752647 PMID:28492532 PMID:20522431 PMID:23166506 More...
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RGD:11541118, RGD:11541114 |
NCBI chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Rnf17 |
ring finger protein 17 |
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ISO |
ClinVar Annotator: match by term: Seckel syndrome 4 |
ClinVar |
PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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Igf2 |
insulin-like growth factor 2 |
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ISO |
ClinVar Annotator: match by term: Silver-Russell syndrome 3 |
OMIM ClinVar |
PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067 |
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NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Ins1 |
insulin 1 |
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ISO |
ClinVar Annotator: match by term: Silver-Russell syndrome 3 |
ClinVar |
PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067 |
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NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Nelfe |
negative elongation factor complex member E |
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ISO |
ClinVar Annotator: match by term: Trichohepatoenteric syndrome |
ClinVar |
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NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355
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Skic2 |
SKI2 subunit of superkiller complex |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trichohepatoenteric syndrome |
CTD ClinVar |
PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 PMID:28496993 PMID:29527791 PMID:31681265 PMID:33098347 PMID:33249554 PMID:35607352 More...
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NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
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Skic3 |
SKI3 subunit of superkiller complex |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trichohepatoenteric syndrome |
CTD ClinVar |
PMID:24033266 |
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NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
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Agk |
acylglycerol kinase |
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ISO |
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 |
ClinVar |
PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 PMID:25741868 PMID:26633545 PMID:28492532 PMID:28868593 More...
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NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934
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Skic3 |
SKI3 subunit of superkiller complex |
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ISO |
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 |
OMIM ClinVar |
PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 PMID:25714577 PMID:25741868 PMID:28292286 PMID:28492532 PMID:28750028 PMID:29527791 PMID:34093558 More...
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NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
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Skic2 |
SKI2 subunit of superkiller complex |
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ISO |
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 |
OMIM ClinVar |
PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27050310 PMID:27431780 PMID:28492532 PMID:28496993 PMID:29527791 PMID:31681265 PMID:32313153 PMID:32963807 PMID:33098347 PMID:33249554 PMID:35607352 More...
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NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome |
ClinVar |
PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | 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 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22855961 PMID:23355746 PMID:23965854 PMID:25339210 PMID:25741868 PMID:25898808 PMID:27029625 PMID:27612211 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 PMID:31940116 PMID:32214227 PMID:32373668 PMID:32582862 PMID:32597037 PMID:32860008 PMID:33491183 More...
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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G |
Pycr1 |
pyrroline-5-carboxylate reductase 1 |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome |
ClinVar |
PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 PMID:21834030 PMID:23963297 PMID:24035636 PMID:25741868 PMID:28492532 PMID:30450527 PMID:32860008 More...
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NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549
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