RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Fetal Growth Retardation
Accession: DOID:9002231
browse the term
Definition: The failure of a FETUS to attain its expected FETAL GROWTH at any GESTATIONAL AGE.
Synonyms: exact_synonym: IUGR; Intrauterine Growth Retardation; intrauterine growth restriction
primary_id: MESH:D005317 ; RDO:0000316
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcb1a
ATP binding cassette subfamily B member 1A
IEP
mRNA:increased expression:placenta
RGD
PMID:16225763
RGD:2306659
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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Ace
angiotensin I converting enzyme
IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:24847689
RGD:12879387
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
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Adipoq
adiponectin, C1Q and collagen domain containing
treatment
IEP
RGD
PMID:23533720
RGD:8695947
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Adipor1
adiponectin receptor 1
treatment
IEP
RGD
PMID:23533720
RGD:8695947
NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
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Adipor2
adiponectin receptor 2
treatment
IEP
RGD
PMID:23533720
RGD:8695947
NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
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Agt
angiotensinogen
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:kidney,urine:
CTD
PMID:17537837 , PMID:20530295 , PMID:26270574
RGD:13432363 , RGD:11538508
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Agtr1a
angiotensin II receptor, type 1a
IEP
RGD
PMID:21303825
RGD:5129179
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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Agtr2
angiotensin II receptor, type 2
IEP
RGD
PMID:21303825
RGD:5129179
NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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Aldh18a1
aldehyde dehydrogenase 18 family, member A1
ISO
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
RGD
PMID:26320891
RGD:13434923
NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425 Ensembl chr 1:259,641,676...259,674,425
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Anapc2
anaphase promoting complex subunit 2
ISO
protein:increased expression:serum (human)
RGD
PMID:25724728
RGD:14696679
NCBI chr 3:2,490,496...2,502,247
Ensembl chr 3:2,490,518...2,502,248
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Apoe
apolipoprotein E
IEP
mRNA:increased expression:adrenal gland (rat)
RGD
PMID:19923365
RGD:4891147
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Apoh
apolipoprotein H
ISO
RGD
PMID:24642748
RGD:10054118
NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
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Arg1
arginase 1
IEP
RNA:increased expression:thoracic aorta:
RGD
PMID:29741931
RGD:13792602
NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
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Atp5f1a
ATP synthase F1 subunit alpha
IEP
protein:increased expression:retroperitoneal fat pad (rat)
RGD
PMID:26633942
RGD:13703049
NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
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Atp5f1b
ATP synthase F1 subunit beta
IEP
protein:decreased expression:liver (rat)
RGD
PMID:26342040
RGD:13782135
NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:22932950
RGD:10054114
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:22932950
RGD:10054114
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Bmp4
bone morphogenetic protein 4
IEP
RGD
PMID:22710965
RGD:9068402
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
IEP
RGD
PMID:3973436
RGD:2303532
NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
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Casp3
caspase 3
treatment
IEP
RGD
PMID:22932950
RGD:10054114
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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Col2a1
collagen type II alpha 1 chain
IEP
mRNA:decreased expression:distal epiphyseal plate of femur (rat)
RGD
PMID:22995397
RGD:8661261
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Comt
catechol-O-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23667712
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
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Cps1
carbamoyl-phosphate synthase 1
IEP
RGD
PMID:3973436
RGD:2303532
NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
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Cth
cystathionine gamma-lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
IEP
mRNA:increased expression:adrenal gland, maternal (rat)
RGD
PMID:17881205
RGD:4832477
NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
IEP
protein:decreased expression:fetus, adrenal gland (rat)
RGD
PMID:19923365
RGD:4891147
NCBI chr 7:116,195,976...116,201,829
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
IEP
mRNA:increased expression:fetus, adrenal gland (rat)
RGD
PMID:19923365
RGD:4891147
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
IEP ISO
mRNA:increased expression:placenta
RGD
PMID:16225763 , PMID:17706398 , PMID:18442069
RGD:2306659 , RGD:11576317 , RGD:11576311
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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Des
desmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
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Dlk1
delta like non-canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27776119
NCBI chr 6:133,576,513...133,583,751
Ensembl chr 6:133,552,821...133,583,751
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Dnmt1
DNA methyltransferase 1
IEP
mRNA,protein:decreased expression:hippocampus: mRNA:increased expression:adrenal gland: mRNA:decreased expression:kidney:
RGD
PMID:16380407 , PMID:24717552 , PMID:12869365
RGD:9588242 , RGD:9590296 , RGD:9588619
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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Dnmt3b
DNA methyltransferase 3 beta
IEP
mRNA:increased expression:adrenal gland:
RGD
PMID:24717552
RGD:9590296
NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
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Dusp1
dual specificity phosphatase 1
IEP
RGD
PMID:12487923
RGD:7771581
NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
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Dusp5
dual specificity phosphatase 5
IEP
RGD
PMID:16940436
RGD:2317872
NCBI chr 1:274,245,184...274,258,595
Ensembl chr 1:274,245,184...274,258,595
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Intrauterine growth retardation
ClinVar
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
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Elk1
ETS transcription factor ELK1
ISO
mRNA:decreased expression:placenta
RGD
PMID:20008130
RGD:7488901
NCBI chr X:1,287,875...1,304,822
Ensembl chr X:1,297,099...1,304,822
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Fas
Fas cell surface death receptor
susceptibility
ISO
associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human) associated with protein:increased expression:serum:
RGD
PMID:15695771 , PMID:16169656
RGD:12903973 , RGD:12904025
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Faslg
Fas ligand
severity
ISO
protein:increased expression:amniotic fluid: associated with protein:increased expression:serum:
RGD
PMID:23582102 , PMID:16169656
RGD:12903972 , RGD:12904025
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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G6pc1
glucose-6-phosphatase catalytic subunit 1
IEP
mRNA:increased expression:liver mRNA, protein:decreased expression:liver (rat)
RGD
PMID:15448092 , PMID:23744881
RGD:2315963 , RGD:14695550
NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
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Ghrl
ghrelin and obestatin prepropeptide
disease_progression
IEP
RGD
PMID:20637157
RGD:12904883
NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
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Ghsr
growth hormone secretagogue receptor
disease_progression
IEP
RGD
PMID:20637157
RGD:12904883
NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
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Glud1
glutamate dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19500843
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
IEP
protein:decreased expression:cerebral cortical neuron (rat)
RGD
PMID:20398734
RGD:4107070
NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
IEP
protein:decreased expression:cerebral cortical neuron (rat)
RGD
PMID:20398734
RGD:4107070
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
treatment
IEP
RGD
PMID:20423831
RGD:13210763
NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion:: (human)
RGD
PMID:22310945 , PMID:19147266
RGD:10450795 , RGD:12792219
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion, haplotype:: (human) DNA:deletion:: (human)
RGD
PMID:22310945 , PMID:19147266
RGD:10450795 , RGD:12792219
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
IEP
mRNA:decreased expression
RGD
PMID:11124150
RGD:1599884
NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
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Hdac1
histone deacetylase 1
IDA IEP
mRNA:increased expression:adrenal gland: protein:decreased expression, decreased activity:hippocampus:
RGD
PMID:18464933 , PMID:24717552 , PMID:16380407
RGD:2311214 , RGD:9590296 , RGD:9588242
NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
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Hdac2
histone deacetylase 2
IEP
mRNA:increased expression:adrenal gland:
RGD
PMID:24717552
RGD:9590296
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
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Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
DNA:altered methylation:prompter:
RGD
PMID:20126273
RGD:12904699
NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IEP
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney
RGD
PMID:17272666
RGD:2308941
NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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Igf1
insulin-like growth factor 1
treatment onset
IEP ISO
mRNA:decreased expression:liver human protein in a rat model protein:decreased expression:placenta labyrinth (rat)
RGD
PMID:19088829 , PMID:9284279 , PMID:24239160 , PMID:15506645
RGD:2306715 , RGD:12910460 , RGD:12904720 , RGD:1600258
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Igf1r
insulin-like growth factor 1 receptor
onset
ISO IEP
DNA:point mutation:exon:p.R108Q, p.K115N (human) protein:increased expression:liver, lung (rat) protein:decreased expression:placenta labyrinth (rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:14657428 , PMID:14657428 , PMID:12536576 , PMID:24239160
RGD:1624299 , RGD:12904724 , RGD:12904720
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Igf2
insulin-like growth factor 2
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:altered expresssion:liver,placenta:
CTD
PMID:12087403 PMID:16040806 , PMID:1408464
RGD:14985247
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Igf2r
insulin-like growth factor 2 receptor
IEP
mRNA:increased expresssion:fetus:
RGD
PMID:1408464
RGD:14985247
NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
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Igfbp3
insulin-like growth factor binding protein 3
treatment
IEP ISO
protein:increased expression:brain protein:increased expression:Amniotic fluid: protein:decreased expression:serum: mRNA:increased expression:placenta: DNA:hypermethylation:promoter:
RGD
PMID:16923367 , PMID:19217707 , PMID:19591553 , PMID:21823995 , PMID:21924014 , PMID:15506645
RGD:10402581 , RGD:12743599 , RGD:12743590 , RGD:12743585 , RGD:12743583 , RGD:1600258
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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Il1a
interleukin 1 alpha
ISO
mRNA:increased expression:placenta
RGD
PMID:11005132
RGD:2311066
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Irs1
insulin receptor substrate 1
IEP
mRNA,protein:decreased expression:growth plate:
RGD
PMID:22995397
RGD:8661261
NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
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Irs2
insulin receptor substrate 2
IEP
RGD
PMID:20720385
RGD:7257699
NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
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Lep
leptin
IDA
RGD
PMID:21353474
RGD:5128507
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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Mdm2
MDM2 proto-oncogene
IEP
mRNA:decreased expression:cerebrum (rat)
RGD
PMID:15563574
RGD:2317395
NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
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Mecp2
methyl CpG binding protein 2
IEP
mRNA,protein:decreased expression:hippocampus:
RGD
PMID:16380407
RGD:9588242
NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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Mmp2
matrix metallopeptidase 2
ISO
DNA:SNP:promoter:-1306C>T (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488 , PMID:17367869
RGD:13204803
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility
ISO
DNA:SNP:cds:1958G>A(human) DNA:SNP: :401A>G(human)
RGD
PMID:22378735 , PMID:18771981 , PMID:25118499
RGD:12910955 , RGD:12914148 , RGD:12910958
NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
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Muc1
mucin 1, cell surface associated
IEP
RGD
PMID:19287349
RGD:7349369
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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Muc2
mucin 2, oligomeric mucus/gel-forming
IEP
RGD
PMID:19287349
RGD:7349369
NCBI chr 1:214,663,929...214,693,197
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Muc4
mucin 4, cell surface associated
IEP
RGD
PMID:19287349
RGD:7349369
NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
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Nfe2l2
nuclear factor, erythroid 2-like 2
treatment
IEP ISO
protein:decreased expression:placenta
RGD
PMID:23910525 , PMID:25171874 , PMID:25171874
RGD:10412716 , RGD:26884462 , RGD:26884462
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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Nos1
nitric oxide synthase 1
IEP
associated with hyperinsulinemia; protein:decreased expression:placenta
RGD
PMID:19709742
RGD:5132592
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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Nos2
nitric oxide synthase 2
IEP
associated with hyperinsulinemia; protein:increased expression:placenta
RGD
PMID:19709742
RGD:5132592
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
IEP ISO
associated with hyperinsulinemia; protein:decreased expression:placenta CTD Direct Evidence: marker/mechanism RNA, protein:increased expression:thoracic aorta:
CTD
PMID:22421449 PMID:23667712 , PMID:19709742 , PMID:29741931
RGD:5132592 , RGD:13792602
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IEP IDA
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney
RGD
PMID:17272666 , PMID:20388836
RGD:2308941 , RGD:4892120
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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Orc1
origin recognition complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21358633
NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445
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Otc
ornithine transcarbamylase
IEP
mRNA:altered expression:liver (rat)
RGD
PMID:8929856
RGD:4144077
NCBI chr X:13,524,804...13,601,074
Ensembl chr X:13,524,607...13,601,069
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Pck1
phosphoenolpyruvate carboxykinase 1
IEP
mRNA:decreased expression:liver:
RGD
PMID:12538794
RGD:10448276
NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
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Pdgfa
platelet derived growth factor subunit A
ISO
mRNA:increased expression:placenta
RGD
PMID:11005132
RGD:2311066
NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
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Pdgfb
platelet derived growth factor subunit B
ISO
mRNA:increased expression:placenta
RGD
PMID:11005132
RGD:2311066
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Pdx1
pancreatic and duodenal homeobox 1
IEP IDA
mRNA:decreased expression:pancreas (rat) mRNA:decreased expression:pancreatic islet
RGD
PMID:12606515 , PMID:18464933
RGD:2311220 , RGD:2311214
NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
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Pparg
peroxisome proliferator-activated receptor gamma
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:21425435
RGD:8552971
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
G
Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA, protein:increased expression:liver (rat)
RGD
PMID:18433551
RGD:10059649
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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Prdx6
peroxiredoxin 6
ISO IEP
protein:decreased expression:placenta
RGD
PMID:25171874 , PMID:25171874
RGD:26884462 , RGD:26884462
NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
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Ptger3
prostaglandin E receptor 3
IEP
mRNA, protein:increased expression:placenta (rat)
RGD
PMID:15990166
RGD:10043194
NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney
RGD
PMID:17272666
RGD:2308941
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
treatment
IEP
with postnatal growth restriction
RGD
PMID:19491300
RGD:12743586
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
G
Rbp1
retinol binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr 8:106,449,321...106,470,842
Ensembl chr 8:106,449,321...106,470,842
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17537837
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
G
Samd9
sterile alpha motif domain containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27182967
NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178
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Serpine1
serpin family E member 1
ISO
associated with Pre-Eclampsia;protein:increased expression:plasma,placenta:
RGD
PMID:8018914
RGD:13208595
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Sin3a
SIN3 transcription regulator family member A
IDA
RGD
PMID:18464933
RGD:2311214
NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
G
Slc2a1
solute carrier family 2 member 1
IEP
protein:increased expression:placenta mRNA, protein:increased expression:liver
RGD
PMID:11738800 , PMID:9886959
RGD:730192 , RGD:12879480
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Slc2a2
solute carrier family 2 member 2
IEP
mRNA, protein:decreased expression:liver
RGD
PMID:9886959
RGD:12879480
NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
G
Slc2a3
solute carrier family 2 member 3
IEP
protein:increased expression:placenta
RGD
PMID:11738800
RGD:730192
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856 Ensembl chr 4:155,408,233...155,631,856
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Slc38a2
solute carrier family 38, member 2
IEP
mRNA, protein:decreased expression:placenta
RGD
PMID:21812961
RGD:9999212
NCBI chr 7:138,088,654...138,100,869
Ensembl chr 7:138,088,649...138,100,841
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21893188
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
G
Srebf1
sterol regulatory element binding transcription factor 1
IEP
RGD
PMID:19017816
RGD:2308805
NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
G
Srebf1_v2
sterol regulatory element binding factor 1, variant 2
IEP
RGD
PMID:19017816
RGD:2308805
G
Star
steroidogenic acute regulatory protein
IEP
mRNA:increased expression:adrenal gland, maternal (rat)
RGD
PMID:17881205
RGD:4832477
NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
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Tff3
trefoil factor 3
IEP
RGD
PMID:19287349
RGD:7349369
NCBI chr20:9,850,800...9,855,481
Ensembl chr20:9,850,803...9,855,481
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Unc13a
unc-13 homolog A
IEP
RGD
PMID:18787382
RGD:5686390
NCBI chr16:20,056,398...20,103,951
Ensembl chr16:20,056,765...20,097,287
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Vdr
vitamin D receptor
ISO
mRNA,protein:decreased expression:placenta:
RGD
PMID:25716068
RGD:11058690
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Intrauterine growth retardation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Bowen-Conradi syndrome ClinVar Annotator: match by OMIM:211180
OMIM ClinVar
PMID:19463982 PMID:25741868
NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
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Acta1
actin, alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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Adssl1
adenylosuccinate synthase like 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 6:137,184,818...137,206,694
Ensembl chr 6:137,184,820...137,206,693
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Aldh5a1
aldehyde dehydrogenase 5 family, member A1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
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Asah1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
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Ascc1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:28749478 PMID:31680123
NCBI chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893
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Aspm
assembly factor for spindle microtubules
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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Aven
apoptosis and caspase activation inhibitor
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
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Chrnd
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
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Cntnap1
contactin associated protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
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Dok7
docking protein 7
ISO
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar
PMID:2261499 PMID:9536098 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:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28492532 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31880392
NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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Dqx1
DEAQ box RNA-dependent ATPase 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 4:113,890,201...113,899,355
Ensembl chr 4:113,890,509...113,899,347
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
G
Ears2
glutamyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
G
Fbln1
fibulin 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
G
Gbe1
1,4-alpha-glucan branching enzyme 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
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Gcn1
GCN1 activator of EIF2AK4
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr12:46,728,684...46,789,696
Ensembl chr12:46,728,699...46,789,726
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Gfra4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 3:123,573,394...123,582,431
Ensembl chr 3:123,578,997...123,581,518
G
Gldn
gliomedin
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
G
Iqsec3
IQ motif and Sec7 domain ArfGEF 3
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493
G
Lgi4
leucine-rich repeat LGI family, member 4
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
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Magi3
membrane associated guanylate kinase, WW and PDZ domain containing 3
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 2:206,499,467...206,699,105
Ensembl chr 2:206,499,463...206,699,105
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Musk
muscle associated receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar OMIM
PMID:9536098 PMID:15184594 PMID:15496425 PMID:17576681 PMID:18414213 PMID:21520333 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:29704306 PMID:30429133 PMID:30719842
NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
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Naga
alpha-N-acetylgalactosaminidase
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
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Nalcn
sodium leak channel, non-selective
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:27214504 PMID:31680123
NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123
NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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Prg4
proteoglycan 4
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
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Prickle1
prickle planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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Rapsn
receptor-associated protein of the synapse
ISO
ClinVar Annotator: match by OMIM:208150 ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 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:16931511 PMID:16945936 PMID:17190963 PMID:17576681 PMID:17594401 PMID:17686188 PMID:17878953 PMID:19620612 PMID:20157724 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:30124556 PMID:30266223 PMID:31680123 PMID:32070632
NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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RGD1307100
similar to RIKEN cDNA D630029K19
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
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Ror2
receptor tyrosine kinase-like orphan receptor 2
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123
NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
G
Ryr3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
G
Scn4a
sodium voltage-gated channel alpha subunit 4
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
G
Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
G
Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
G
Setbp1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123
NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
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Spag16
sperm associated antigen 16
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 9:77,027,626...77,833,476
Ensembl chr 9:77,320,726...77,833,281
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Tmpo
thymopoietin
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
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Unc50
unc-50 inner nuclear membrane RNA binding protein
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 9:44,024,994...44,032,896
Ensembl chr 9:44,025,020...44,032,888
G
Vps13d
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
G
Zeb2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
G
Rapsn
receptor-associated protein of the synapse
ISO
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2
OMIM ClinVar
PMID:14504330 PMID:18179903 PMID:18252226
NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
G
Dok7
docking protein 7
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 3
OMIM ClinVar
PMID:16917026 PMID:18161030 PMID:18626973 PMID:19261599 PMID:21850686 PMID:22661499 PMID:25741868 PMID:28492532 PMID:31880392
NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
G
Nup88
nucleoporin 88
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 4
OMIM ClinVar
PMID:25741868 PMID:30543681
NCBI chr10:57,581,828...57,606,171
Ensembl chr10:57,581,828...57,606,171
G
Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: GRACILE syndrome ClinVar Annotator: match by OMIM:603358
OMIM ClinVar
PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24236502 PMID:24655110 PMID:25326637 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:26489029 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:31435670
NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
G
Dclre1b
DNA cross-link repair 1B
ISO
ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome
ClinVar
PMID:28492532
NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
G
Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome
ClinVar
PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544
NCBI chr X:155,844,914...155,862,363
Ensembl chr X:155,844,857...155,862,475
G
Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785587
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
G
Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
ClinVar Annotator: match by term: IMAGE Syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:614732
OMIM ClinVar CTD
PMID:15769992 PMID:22634751 PMID:24098681 PMID:25057881 PMID:25262539 PMID:25614875 PMID:25741868 PMID:28492532 PMID:30374176
NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
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Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY
ClinVar OMIM
PMID:14760276 PMID:16835919 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30503519
NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
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Pcnt
pericentrin
ISO
ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism
ClinVar
PMID:18414213 PMID:28492532
NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
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Clasp1
cytoplasmic linker associated protein 1
ISO
ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia
ClinVar
PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 PMID:23794361 PMID:24865609 PMID:25741868 PMID:25741869 PMID:26522830 PMID:27040866 PMID:28492532 PMID:29165669 PMID:29265708 PMID:30368667 PMID:32628740
NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
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Pcnt
pericentrin
ISO
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2 ClinVar Annotator: match by OMIM:210720 DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human) DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)
OMIM ClinVar
PMID:12210304 PMID:15372530 PMID:18157127 PMID:18174396 PMID:18414213 PMID:19448849 PMID:19643772 PMID:19839044 PMID:19937158 PMID:21195721 PMID:21567919 PMID:23033978 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27323140 PMID:27900370 PMID:28492532 PMID:30922925 PMID:32818659 , PMID:18157127 , PMID:19643772 , PMID:18174396 , PMID:21567919
RGD:11537403 , RGD:11537402 , RGD:11537401 , RGD:11537400
NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
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Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome
OMIM ClinVar
PMID:614258 PMID:12605447 PMID:16007586 PMID:19938095 PMID:21855841 PMID:25741868 PMID:25898808 PMID:27612211 PMID:28459997 PMID:28492532 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 PMID:32214227 PMID:32860008
NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
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Phgdh
phosphoglycerate dehydrogenase
ISO
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 ClinVar Annotator: match by OMIM:256520
OMIM ClinVar
PMID:11034457 PMID:11055895 PMID:19235232 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
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Psat1
phosphoserine aminotransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
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Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis ClinVar Annotator: match by OMIM:609069 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10507728 PMID:15543146 PMID:19650412 PMID:20065546 PMID:21749365 PMID:25741868 PMID:25775927 PMID:28492532
NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: Seckel syndrome 4 DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human) ClinVar Annotator: match by OMIM:613676 ClinVar Annotator: match by null
OMIM ClinVar
PMID:18414213 PMID:20522431 PMID:20978018 PMID:24033266 PMID:24402816 PMID:25741868 PMID:26467025 PMID:26752647 PMID:28492532 , PMID:20522431 , PMID:23166506
RGD:11541118 , RGD:11541114
NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
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Rnf17
ring finger protein 17
ISO
ClinVar Annotator: match by term: Seckel syndrome 4
ClinVar
PMID:18414213 PMID:20522431 PMID:24402816 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:36,609,348...36,744,750
Ensembl chr15:36,609,296...36,744,762
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Igf2
insulin-like growth factor 2
ISO
ClinVar Annotator: match by term: Growth restriction, severe, with distinctive facies
OMIM ClinVar
PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Growth restriction, severe, with distinctive facies
ClinVar
PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067
NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
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Nelfe
negative elongation factor complex member E
ISO
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
ClinVar
NCBI chr20:4,530,328...4,536,085
Ensembl chr20:4,530,342...4,536,209
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Skiv2l
Ski2 like RNA helicase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD ClinVar
NCBI chr20:4,519,457...4,530,177
Ensembl chr20:4,519,474...4,530,126
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Ttc37
tetratricopeptide repeat domain 37
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD ClinVar
PMID:24033266
NCBI chr 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553
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Agk
acylglycerol kinase
ISO
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1
ClinVar
PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 PMID:25741868 PMID:26633545 PMID:28868593
NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
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Ttc37
tetratricopeptide repeat domain 37
ISO
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar Annotator: match by OMIM:222470
OMIM ClinVar
PMID:20176027 PMID:21120949 PMID:25326635 PMID:25741868 PMID:28492532
NCBI chr 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553
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Skiv2l
Ski2 like RNA helicase
ISO
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 ClinVar Annotator: match by OMIM:614602
OMIM ClinVar
PMID:22444670 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27431780 PMID:28492532 PMID:32313153 PMID:32963807
NCBI chr20:4,519,457...4,530,177
Ensembl chr20:4,519,474...4,530,126
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