RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | Pregnancy Complications |
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Accession: | DOID:9004702
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browse the term
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Definition: | Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases. |
Synonyms: | exact_synonym: | Pregnancy Complication; pregnancy disorder |
| primary_id: | MESH:D011248 |
| xref: | EFO:0009682 |
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Clec4m |
C-type lectin domain family 4 member M |
susceptibility |
IAGP |
associated with hepatitis B; DNA:: |
RGD |
PMID:22338216 |
RGD:39938980 |
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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Epo |
erythropoietin |
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ISO |
associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid |
RGD |
PMID:15502930 |
RGD:2313897 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Faah |
fatty acid amide hydrolase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16886060 |
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NCBI chr 5:129,479,774...129,499,018
Ensembl chr 5:129,479,824...129,498,677
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Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11932298 |
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NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Jak2 |
Janus kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19636672 |
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NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Klrk1 |
killer cell lectin like receptor K1 |
treatment |
ISO |
associated with Animal Toxoplasmosis |
RGD |
PMID:28438315 |
RGD:39128164 |
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Ncoa2 |
nuclear receptor coactivator 2 |
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IEP |
mRNA:decreased expression:uterus (rat) |
RGD |
PMID:20660062 |
RGD:5688349 |
NCBI chr 5:5,835,642...6,069,693
Ensembl chr 5:5,835,706...6,067,451
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Nfkbia |
NFKB inhibitor alpha |
susceptibility |
ISO |
associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) |
RGD |
PMID:25792174 |
RGD:11342310 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Serpine1 |
serpin family E member 1 |
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ISO |
DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:10909993 |
RGD:13208506 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
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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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Fas |
Fas cell surface death receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10716473 |
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NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10716473 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Prl |
prolactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18926768 |
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NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10716473 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ephb4 |
EPH receptor B4 |
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ISO |
ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT | ClinVar Annotator: match by term: Lymphatic malformation 7 |
OMIM ClinVar |
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 PMID:30578106 PMID:32267001 PMID:33240318 More...
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NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Mdfic |
MyoD family inhibitor domain containing |
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ISS |
OMIM:617300 |
MouseDO |
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NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Slc12a9 |
solute carrier family 12, member 9 |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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Ager |
advanced glycosylation end product-specific receptor |
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ISO |
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RGD |
PMID:22578261 |
RGD:6767308 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Fas |
Fas cell surface death receptor |
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ISO |
protein:increased expression:villous trophoblast |
RGD |
PMID:12700199 |
RGD:12904022 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21493953 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il6 |
interleukin 6 |
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ISO |
protein:increased expression:plasma protein:increased expression: cervicovaginal fluid : associated with Premature Birth;protein:increased expression:tracheal aspirate fluid: |
RGD |
PMID:15547537 PMID:25687566 PMID:25011638 |
RGD:5128667, RGD:12792243, RGD:12791291 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Lta |
lymphotoxin alpha |
severity |
ISO |
associated with Premature Birth;DNA:SNP:promoter:250G>A (human) |
RGD |
PMID:15128916 |
RGD:12904055 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.G54D(human) |
RGD |
PMID:15723707 |
RGD:12910932 |
NCBI chr 1:228,016,439...228,024,736
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Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:12712078 |
RGD:13204828 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Tgfb1 |
transforming growth factor, beta 1 |
severity |
ISO |
protein:increased expression:amniotic fluid |
RGD |
PMID:19332995 |
RGD:4145137 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf |
tumor necrosis factor |
no_association severity |
ISO |
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human) associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human) |
RGD |
PMID:15128916 PMID:15128916 |
RGD:12904055, RGD:12904055 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trem1 |
triggering receptor expressed on myeloid cells 1 |
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ISO |
associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: |
RGD |
PMID:19591072 |
RGD:127229904 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Fgf8 |
fibroblast growth factor 8 |
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ISO |
testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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Igf2 |
insulin-like growth factor 2 |
disease_progression |
ISO |
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RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Insr |
insulin receptor |
disease_progression |
ISO |
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RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, placenta |
RGD |
PMID:15507671 |
RGD:2290418 |
NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
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Rnf135 |
ring finger protein 135 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
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NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
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ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema |
ClinVar |
PMID:25741868 |
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NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH |
OMIM ClinVar |
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29952828 More...
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NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Fadd |
Fas associated via death domain |
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ISO |
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RGD |
PMID:26419589 |
RGD:13792560 |
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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Il6 |
interleukin 6 |
treatment |
IDA |
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RGD |
PMID:27106269 |
RGD:11062145 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Crisp3 |
cysteine-rich secretory protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19282327 |
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NCBI chr 9:20,432,051...20,472,663
Ensembl chr 9:20,450,908...20,472,658
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Cdk2 |
cyclin dependent kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cxcl12 |
C-X-C motif chemokine ligand 12 |
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ISO |
associated with Diabetes Mellitus, Insulin-Dependent |
RGD |
PMID:18384776 |
RGD:2306554 |
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Foxo3 |
forkhead box O3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Gpx4 |
glutathione peroxidase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12566075 |
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NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Grk2 |
G protein-coupled receptor kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17008600 |
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NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Igf2 |
insulin-like growth factor 2 |
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IDA |
DNA:methylation: : |
RGD |
PMID:18778817 |
RGD:5509951 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il18 |
interleukin 18 |
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IEP |
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RGD |
PMID:21920610 |
RGD:8655947 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Lcmt1 |
leucine carboxyl methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17724024 |
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NCBI chr 1:177,904,119...177,960,111
Ensembl chr 1:177,904,139...177,960,112
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Lif |
LIF, interleukin 6 family cytokine |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23409146 |
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NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
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Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
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ISO |
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RGD |
PMID:22972987 |
RGD:155663421 |
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mir105 |
microRNA 105 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chr X:150,438,529...150,438,601
Ensembl chr X:150,438,529...150,438,601
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Nlrp5 |
NLR family, pyrin domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Preimplantation embryonic lethality |
ClinVar |
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NCBI chr 1:67,778,037...67,810,946
Ensembl chr 1:67,777,948...68,023,736
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Parg |
poly (ADP-ribose) glycohydrolase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15591342 |
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NCBI chr16:7,436,429...7,544,276
Ensembl chr16:7,436,476...7,544,273
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Sall1 |
spalt-like transcription factor 1 |
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ISO |
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RGD |
PMID:11688560 |
RGD:155641230 |
NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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Sall4 |
spalt-like transcription factor 4 |
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ISO |
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RGD |
PMID:16790473 |
RGD:155631313 |
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Slc31a1 |
solute carrier family 31 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11391004 |
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NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
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Tab2 |
TGF-beta activated kinase 1/MAP3K7 binding protein 2 |
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ISO |
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RGD |
PMID:22972987 |
RGD:155663421 |
NCBI chr 1:2,375,026...2,424,759
Ensembl chr 1:2,375,490...2,424,756
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Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
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RGD |
PMID:22972987 |
RGD:155663421 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Ube2n |
ubiquitin-conjugating enzyme E2N |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16738225 |
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NCBI chr 7:30,154,330...30,184,373
Ensembl chr 7:30,154,616...30,184,355
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Cep128 |
centrosomal protein 128 |
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ISO |
ClinVar Annotator: match by term: Familial gestational hyperthyroidism |
ClinVar |
PMID:24728327 PMID:25741868 |
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NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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Tshr |
thyroid stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Familial gestational hyperthyroidism CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:7528344 PMID:8636266 PMID:8964822 PMID:9329388 PMID:9360555 PMID:12050212 PMID:24033266 PMID:24728327 PMID:25741868 More...
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NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Dok7 |
docking protein 7 |
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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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Rapsn |
receptor-associated protein of the synapse |
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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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Ryr1 |
ryanodine receptor 1 |
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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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Acp2 |
acid phosphatase 2, lysosomal |
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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 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680
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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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Adss1 |
adenylosuccinate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
|
|
G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI 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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
|
|
G |
Cntnap1 |
contactin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
|
|
G |
Cstpp1 |
centriolar satellite-associated tubulin polyglutamylase complex regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI 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 |
|
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
|
|
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...
|
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310
|
|
G |
Lgi4 |
leucine-rich repeat LGI family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI 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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
G |
Madd |
MAP-kinase activating death domain |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
|
|
G |
Nalcn |
sodium leak channel, non-selective |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:27214504 PMID:31680123 |
|
NCBI 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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI 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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
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|
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G |
Rapsn |
receptor-associated protein of the synapse |
|
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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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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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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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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Ank3 |
ankyrin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29109170 |
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NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
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Apoe |
apolipoprotein E |
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ISO |
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RGD |
PMID:15007105 |
RGD:12904641 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Bpifa1 |
BPI fold containing family A, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15513904 |
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NCBI chr 3:142,627,810...142,633,553
Ensembl chr 3:142,627,810...142,633,552
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G |
Cat |
catalase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26074427 |
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NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
treatment |
IMP IEP |
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RGD |
PMID:22037411 PMID:23763370 |
RGD:13210751, RGD:13432044 |
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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Igf1 |
insulin-like growth factor 1 |
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IEP |
mRNA:decreased expression:cerebellum (rat) |
RGD |
PMID:16909201 |
RGD:12904886 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r |
insulin-like growth factor 1 receptor |
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IEP |
protein:decreased activity:cerebellum (rat) |
RGD |
PMID:16909201 |
RGD:12904886 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Nos1 |
nitric oxide synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25511929 |
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NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Pten |
phosphatase and tensin homolog |
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IEP |
Protein:increased expression, increased activity:cerebellum (rat) |
RGD |
PMID:12700235 |
RGD:12801493 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Rps6ka1 |
ribosomal protein S6 kinase A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29109170 |
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NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272
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G |
Rhoa |
ras homolog family member A |
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IEP |
protein:increased activation:neuron, cerebellum |
RGD |
PMID:17109064 |
RGD:2298867 |
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Ace |
angiotensin I converting enzyme |
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ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:11085286 |
RGD:11038921 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Atr |
ATR serine/threonine kinase |
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ISO |
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RGD |
PMID:15282542 |
RGD:150340675 |
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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F5 |
coagulation factor V |
no_association |
ISO |
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RGD |
PMID:14706682 |
RGD:1580130 |
NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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G |
Grhl3 |
grainyhead-like transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6635991 |
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NCBI chr 5:147,774,160...147,806,338
Ensembl chr 5:147,774,160...147,806,160
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
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RGD |
PMID:20393889 |
RGD:12910472 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Lpar1 |
lysophosphatidic acid receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11087877 |
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NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29255069 |
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NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
Oxt |
oxytocin/neurophysin I prepropeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:5067144 |
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NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11023856 |
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NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Rdh10 |
retinol dehydrogenase 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793605 |
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NCBI chr 5:3,186,671...3,215,572
Ensembl chr 5:3,188,445...3,215,572
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G |
Tfpi |
tissue factor pathway inhibitor |
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ISO |
associated with Hemorrhage; |
RGD |
PMID:9242522 |
RGD:11060259 |
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
associated with Endotoxemia; human protein in rat model |
RGD |
PMID:21187445 |
RGD:5131261 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10195895 PMID:10195896 PMID:10346820 PMID:20961246 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Nos2 |
nitric oxide synthase 2 |
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ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:19283362 |
RGD:2313217 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Prkcb |
protein kinase C, beta |
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IEP |
associated with Diabetes Mellitus, Experimental;protein:increased expression |
RGD |
PMID:15496608 |
RGD:1625524 |
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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G |
Prss8 |
serine protease 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22705055 |
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NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
ClinVar Annotator: match by term: Cocoon syndrome |
OMIM ClinVar |
PMID:20961246 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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G |
Ermap |
erythroblast membrane associated protein (Scianna blood group) |
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ISO |
ClinVar Annotator: match by term: Radin blood group |
ClinVar |
PMID:12393480 |
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NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847
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G |
Fcgr2a |
Fc gamma receptor 2A |
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ISO |
DNA:polymorphism: : |
RGD |
PMID:19129718 |
RGD:11100009 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Polr1c |
RNA polymerase I and III subunit C |
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ISO |
ClinVar Annotator: match by term: Fetal Erythroblastosis |
ClinVar |
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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G |
Slc14a1 |
solute carrier family 14 member 1 (Kidd blood group) |
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ISO |
ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM |
ClinVar |
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NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146
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Slc29a1 |
solute carrier family 29 member 1 |
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ISO |
ClinVar Annotator: match by term: Fetal Erythroblastosis |
ClinVar |
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NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
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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 |
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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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Adipor1 |
adiponectin receptor 1 |
treatment |
IEP |
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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 |
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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 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:kidney,urine: |
CTD RGD |
PMID:17537837 PMID:20530295 PMID:26270574 |
RGD:13432363, RGD:11538508 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a |
angiotensin II receptor, type 1a |
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IEP |
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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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Agtr2 |
angiotensin II receptor, type 2 |
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IEP |
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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 |
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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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Anapc2 |
anaphase promoting complex subunit 2 |
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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 |
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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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Apoh |
apolipoprotein H |
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ISO |
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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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Arg1 |
arginase 1 |
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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 |
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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 |
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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 |
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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 |
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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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Bmp4 |
bone morphogenetic protein 4 |
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IEP |
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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 |
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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 |
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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 |
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IEP |
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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 |
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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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Col2a1 |
collagen type II alpha 1 chain |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23667712 |
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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28157488 |
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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 |
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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 |
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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 |
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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:17706398 PMID:18442069 |
RGD:2306659, RGD:11576317, RGD:11576311 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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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 |
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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 |
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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 |
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IEP |
mRNA,protein:decreased expression:hippocampus: mRNA:increased expression:adrenal gland: mRNA:decreased expression:kidney: |
RGD |
PMID:16380407 PMID:24717552 PMID:12869365 |
RGD:9588242, RGD:9590296, RGD:9588619 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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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 human protein in a rat model protein:decreased expression:placenta labyrinth (rat) |
RGD |
PMID:19088829 PMID:9284279 PMID:24239160 PMID:15506645 |
RGD:2306715, RGD:12910460, RGD:12904720, RGD:1600258 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
onset |
ISO IEP |
DNA:point mutation:exon:p.R108Q, p.K115N (human) protein:increased expression:liver, lung (rat) protein:decreased expression:placenta labyrinth (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14657428 PMID:14657428 PMID:12536576 PMID:24239160 |
RGD:1624299, RGD:12904724, RGD:12904720 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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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 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 More...
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RGD:10402581, RGD:12743599, RGD:12743590, RGD:12743585, RGD:12743583, RGD:1600258 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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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 |
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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 |
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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 |
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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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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
IEP |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Muc4 |
mucin 4, cell surface associated |
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IEP |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr11:68,008,245...68,053,229
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
IEP ISO |
protein:decreased expression:placenta |
RGD |
PMID:23910525 PMID:25171874 PMID:25171874 |
RGD:10412716, RGD:26884462, RGD:26884462 |
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
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 |
|
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 |
|
IEP ISO |
associated with hyperinsulinemia; protein:decreased expression:placenta CTD Direct Evidence: marker/mechanism RNA, protein:increased expression:thoracic aorta: |
CTD RGD |
PMID:22421449 PMID:23667712 PMID:19709742 PMID:29741931 |
RGD:5132592, RGD:13792602 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
IEP IDA |
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17272666 PMID:20388836 |
RGD:2308941, RGD:4892120 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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G |
Orc1 |
origin recognition complex, subunit 1 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
IDA |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
IEP |
|
RGD |
PMID:19017816 |
RGD:2308805 |
|
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G |
Star |
steroidogenic acute regulatory protein |
|
IEP |
mRNA:increased expression:adrenal gland, maternal (rat) |
RGD |
PMID:17881205 |
RGD:4832477 |
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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G |
Tff3 |
trefoil factor 3 |
|
IEP |
|
RGD |
PMID:19287349 |
RGD:7349369 |
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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G |
Unc13a |
unc-13 homolog A |
|
IEP |
|
RGD |
PMID:18787382 |
RGD:5686390 |
NCBI chr16:18,336,229...18,381,811
Ensembl chr16:18,336,229...18,381,872
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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 |
|
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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|
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G |
Crh |
corticotropin releasing hormone |
|
IEP |
protein:increased expression:paraventricular nucleus of hypothalamus (rat) |
RGD |
PMID:19409200 |
RGD:5491006 |
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
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IEP |
protein:increased expression:paraventricular nucleus of hypothalamus (rat) |
RGD |
PMID:19409200 |
RGD:5491006 |
NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
|
IEP |
protein:decreased expression:paraventricular nucleus of hypothalamus (rat) |
RGD |
PMID:19409200 |
RGD:5491006 |
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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G |
Egr1 |
early growth response 1 |
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IDA |
|
RGD |
PMID:23427086 |
RGD:10395301 |
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
IEP |
protein:altered expression:heart (rat) |
RGD |
PMID:21856922 |
RGD:7207283 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp13 |
matrix metallopeptidase 13 |
|
IEP |
protein:increased expression:heart (rat) |
RGD |
PMID:21856922 |
RGD:7207283 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Nos1 |
nitric oxide synthase 1 |
|
IEP |
|
RGD |
PMID:17310378 |
RGD:1642145 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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G |
Il6 |
interleukin 6 |
|
ISO |
associated with Premature Birth; |
RGD |
PMID:24832219 |
RGD:12801490 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Hnf4a |
hepatocyte nuclear factor 4, alpha |
|
ISO IEP |
DNA:mutations: : |
RGD |
PMID:17407387 PMID:19435144 |
RGD:12904698, RGD:12904767 |
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:17113804 |
RGD:12743591 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:17113804 |
RGD:12743591 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Lipc |
lipase C, hepatic type |
|
IEP |
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) |
RGD |
PMID:10600655 |
RGD:2308786 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
IEP |
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
|
IEP |
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Maoa |
monoamine oxidase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22340208 |
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NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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G |
Nphs1 |
NPHS1 adhesion molecule, nephrin |
|
IEP |
associated with maternal low protein diet; protein:decreased expression:kidney (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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G |
Nphs2 |
NPHS2 stomatin family member, podocin |
|
IEP |
associated with maternal low protein diet; protein:decreased expression:kidney (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
|
IEP |
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) |
RGD |
PMID:23977013 |
RGD:155882570 |
NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
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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 |
Prl |
prolactin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:3816235 |
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NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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G |
Prl |
prolactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20083845 |
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NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
treatment |
ISO IEP |
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15126557 PMID:19626510 PMID:23608331 |
RGD:2313236, RGD:8695950 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Ahsg |
alpha-2-HS-glycoprotein |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12153747 |
RGD:2313814 |
NCBI chr11:78,117,903...78,145,956
Ensembl chr11:78,117,918...78,145,999
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G |
Apod |
apolipoprotein D |
|
ISO |
|
RGD |
PMID:6828336 |
RGD:2311180 |
NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305
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G |
Ar |
androgen receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
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NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Bnip3l |
BCL2 interacting protein 3 like |
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IEP |
|
RGD |
PMID:26512955 |
RGD:11564338 |
NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803
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G |
C12h12orf43 |
similar to human chromosome 12 open reading frame 43 |
|
ISO |
ClinVar Annotator: match by term: Gestational diabetes |
ClinVar |
PMID:9562352 PMID:35299962 |
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NCBI chr12:41,672,114...41,677,722
Ensembl chr12:41,672,114...41,677,714
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
|
RGD |
PMID:18702087 |
RGD:2306986 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccn2 |
cellular communication network factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34175429 |
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NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Cdkal1 |
CDK5 regulatory subunit associated protein 1-like 1 |
|
ISO |
DNA:snp: :rs7756992,rs7754840(human) |
RGD |
PMID:19002430 |
RGD:2313946 |
NCBI chr17:34,718,680...34,769,614 NCBI chr17:34,852,238...35,271,276
Ensembl chr17:34,718,687...35,407,524
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
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NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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G |
Dcn |
decorin |
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ISO |
|
RGD |
PMID:16630654 |
RGD:2311413 |
NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
|
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Foxm1 |
forkhead box M1 |
|
ISO |
|
RGD |
PMID:19833884 |
RGD:2315927 |
NCBI chr 4:161,639,561...161,652,012
Ensembl chr 4:161,638,816...161,650,684
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G |
G6pc1 |
glucose-6-phosphatase catalytic subunit 1 |
|
ISO |
protein:increased activity:liver |
RGD |
PMID:12595588 |
RGD:2315965 |
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
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G |
Gad2 |
glutamate decarboxylase 2 |
|
ISO |
|
RGD |
PMID:18588707 |
RGD:2313295 |
NCBI chr17:84,763,630...84,826,155
Ensembl chr17:84,763,628...84,826,155
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G |
Gck |
glucokinase |
|
ISO |
DNA:SNP:promoter:A allele of -30G>A associated with GDM (p=0.008) (human) ClinVar Annotator: match by term: Gestational diabetes DNA:point mutation:exon:S131P |
ClinVar RGD |
PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 PMID:10525657 PMID:10754480 PMID:12442280 PMID:14517946 PMID:14517956 PMID:15102714 PMID:15305805 PMID:16731834 PMID:17186219 PMID:17389332 PMID:17937063 PMID:18056790 PMID:18414213 PMID:19790256 PMID:20337973 PMID:21395678 PMID:21831042 PMID:21921030 PMID:21978167 PMID:22028181 PMID:22065275 PMID:22493702 PMID:22820548 PMID:23771172 PMID:24033266 PMID:24568320 PMID:24578721 PMID:25082184 PMID:25306193 PMID:25494859 PMID:25555642 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29510678 PMID:29777474 PMID:30191644 PMID:32074423 PMID:36257325 PMID:16752173 PMID:8495817 More...
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RGD:2301873, RGD:1601293 |
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
|
ISO |
protein:increased activity:blood |
RGD |
PMID:18937705 |
RGD:2315598 |
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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G |
Gh1 |
growth hormone 1 |
|
ISO |
protein:increased expression: |
RGD |
PMID:3519044 |
RGD:2315681 |
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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G |
Gpx1 |
glutathione peroxidase 1 |
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IDA |
|
RGD |
PMID:22342560 |
RGD:11353780 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Hnf1a |
HNF1 homeobox A |
|
ISO |
DNA:SNP:CDS:slightly increased frequency of the L allele of the I27L polymorphism (p=0.048) (human) ClinVar Annotator: match by term: Gestational diabetes |
ClinVar RGD |
PMID:9562352 PMID:35299962 PMID:16752173 |
RGD:2301873 |
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
protein:decreased expression:placenta protein:increased expression:decidua, endothelial cell |
RGD |
PMID:19343356 PMID:17990298 |
RGD:2313469, RGD:2313476 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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IEP |
|
RGD |
PMID:22241286 |
RGD:10046048 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Il10 |
interleukin 10 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:18446686 |
RGD:2308947 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:extracellular space (human) |
RGD |
PMID:19408175 |
RGD:2307186 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Inhba |
inhibin subunit beta A |
|
ISO |
protein:increased expression:serum protein:decreased expression:serum |
RGD |
PMID:7852520 PMID:14663836 |
RGD:2313385, RGD:2313391 |
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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G |
Ins2 |
insulin 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:19269197 |
RGD:2311131 |
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Insr |
insulin receptor |
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ISO IEP |
mRNA, protein:increased expression:placenta (human) |
RGD |
PMID:19179458 PMID:22241286 |
RGD:2307336, RGD:10046048 |
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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G |
Lep |
leptin |
|
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20421132 PMID:19269197 |
RGD:2311131 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lepr |
leptin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20421132 |
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NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Mbl2 |
mannose binding lectin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15472209 |
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NCBI chr 1:228,016,439...228,024,736
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G |
Men1 |
menin 1 |
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ISO |
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RGD |
PMID:17975067 |
RGD:2317319 |
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISS |
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MouseDO |
|
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mir133a1 |
microRNA 133a-1 |
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IEP |
|
RGD |
PMID:26512955 |
RGD:11564338 |
NCBI chr18:1,885,082...1,885,168
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G |
Plat |
plasminogen activator, tissue type |
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ISO |
|
RGD |
PMID:17259140 |
RGD:2311668 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Retn |
resistin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:19408175 |
RGD:2307186 |
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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G |
Sirt3 |
sirtuin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23956348 |
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NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23956348 PMID:30738174 PMID:34175429 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Srrm1 |
serine and arginine repetitive matrix 1 |
|
ISO |
protein:increased glycation:placenta (human) |
RGD |
PMID:24308201 |
RGD:11038724 |
NCBI chr 5:147,559,515...147,591,895
Ensembl chr 5:147,559,514...147,591,849
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G |
Tcf7l2 |
transcription factor 7 like 2 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18984664 |
RGD:2312455 |
NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
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G |
Uts2 |
urotensin 2 |
susceptibility |
ISO |
DNA:polymorphism |
RGD |
PMID:17327028 |
RGD:2306802 |
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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G |
Pou5f1 |
POU class 5 homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18440631 |
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NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
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 |
|
ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
ClinVar |
PMID:25741868 |
|
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 |
|
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 |
Lbr |
lamin B receptor |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia DNA:mutations:cds:multiple (human) |
OMIM ClinVar RGD |
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:21327084 More...
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RGD:9588626 |
NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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G |
Anxa5 |
annexin A5 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
|
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NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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G |
Apoe |
apolipoprotein E |
|
ISO |
|
RGD |
PMID:19086990 |
RGD:11039490 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Asic5 |
acid sensing ion channel subunit family member 5 |
|
ISO |
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 |
ClinVar |
|
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NCBI chr 2:167,307,984...167,336,812
Ensembl chr 2:167,307,984...167,336,812
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G |
Cbx3 |
chromobox 3 |
|
ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
|
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NCBI chr 4:80,545,450...80,559,284
Ensembl chr 4:80,546,010...80,559,283
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G |
Ccdc68 |
coiled-coil domain containing 68 |
|
ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr18:63,541,828...63,584,122
Ensembl chr18:63,541,896...63,584,119
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G |
Ccnb3 |
cyclin B3 |
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ISO |
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 |
ClinVar |
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NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
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G |
Cdk2 |
cyclin dependent kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Cenph |
centromere protein H |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr 2:31,894,253...31,910,182
Ensembl chr 2:31,894,667...31,910,154
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G |
Creb5 |
cAMP responsive element binding protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30100398 |
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NCBI chr 4:82,393,091...82,794,320
Ensembl chr 4:82,393,730...82,790,325
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G |
F2 |
coagulation factor II |
susceptibility |
ISO |
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 |
ClinVar OMIM |
PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:15059842 PMID:15534175 PMID:16493002 PMID:16606808 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 PMID:28707429 PMID:30297698 PMID:34110897 PMID:34355501 More...
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NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F5 |
coagulation factor V |
susceptibility |
ISO |
ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO |
ClinVar OMIM |
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9459326 PMID:9518910 PMID:9734642 PMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:11018168 PMID:11110695 PMID:11686338 PMID:12070000 PMID:12421138 PMID:14996674 PMID:15534175 PMID:15638861 PMID:16493002 PMID:16931580 PMID:19652888 PMID:20051284 PMID:21116184 PMID:21774968 PMID:22704462 PMID:23382263 PMID:23677252 PMID:23900608 PMID:24033266 PMID:25741868 PMID:25977387 PMID:26251307 PMID:26990548 PMID:27797270 PMID:28492532 PMID:34355501 More...
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NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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G |
Foxo3 |
forkhead box O3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038060 |
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NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
Kcnq1 |
potassium voltage-gated channel subfamily Q member 1 |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 |
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NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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G |
Mthfr |
methylenetetrahydrofolate reductase |
no_association |
ISO |
DNA:SNPs: :677C>T, 1298A>C (human) DNA:SNP: :1298A>C (human) |
RGD |
PMID:22047507 PMID:22882325 PMID:19906129 |
RGD:10449404, RGD:10449415, RGD:10449411 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Pif1 |
PIF1 5'-to-3' DNA helicase |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr 8:66,110,641...66,120,202
Ensembl chr 8:66,111,072...66,120,200
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 |
ClinVar |
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NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Plk1 |
polo-like kinase 1 |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr 1:176,716,420...176,726,400
Ensembl chr 1:176,716,420...176,726,400
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G |
Rexo4 |
REX4 homolog, 3'-5' exonuclease |
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ISO |
ClinVar Annotator: match by term: Recurrent spontaneous abortion |
ClinVar |
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NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996
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G |
Sycp3 |
synaptonemal complex protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19110213 |
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NCBI chr 7:22,874,055...22,888,512
Ensembl chr 7:22,874,055...22,888,511
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G |
Thbd |
thrombomodulin |
susceptibility |
ISO |
DNA:SNP: :1418C>T (human) |
RGD |
PMID:23954867 |
RGD:11038683 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:12969811 |
RGD:10449045 |
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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G |
Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:blood platelet (human) |
RGD |
PMID:23241952 |
RGD:11522719 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
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RGD |
PMID:9158311 |
RGD:1580990 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO IEP |
DNA:SNP:promoter:-670A>G(rs1800682)(human) protein,mRNA:altered expression:placenta, liver: |
RGD |
PMID:30066360 PMID:28501275 |
RGD:14700669, RGD:14700673 |
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 |
susceptibility |
ISO IEP |
DNA:SNP:intron:124A>G(rs5030772)(human) protein:altered expression:blood, placenta, liver: |
RGD |
PMID:30066360 PMID:28501275 |
RGD:14700669, RGD:14700673 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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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 |
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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 |
Cga |
glycoprotein hormones, alpha polypeptide |
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ISO |
protein:increased expression:serum |
RGD |
PMID:2473429 |
RGD:2293636 |
NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
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G |
Eftud2 |
elongation factor Tu GTP binding domain containing 2 |
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ISO |
protein:increased expression:trophoblast, decidua: |
RGD |
PMID:32447180 |
RGD:155791666 |
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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G |
Khdc3 |
KH domain containing 3, subcortical maternal complex member |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydatidiform mole |
CTD ClinVar |
PMID:25741868 |
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NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248
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G |
Mlh1 |
mutL homolog 1 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell |
RGD |
PMID:15338238 |
RGD:2293517 |
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
protein:increased expression:syncytiotrophoblast cell |
RGD |
PMID:16884384 |
RGD:2290363 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Msh2 |
mutS homolog 2 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell |
RGD |
PMID:15338238 |
RGD:2293517 |
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hydatidiform mole |
ClinVar |
PMID:24033266 PMID:25741868 |
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NCBI chr 1:69,614,744...69,622,570
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Msh2 |
mutS homolog 2 |
|
ISO |
protein:decreased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:15338238 |
RGD:2293517 |
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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G |
Kir3dl1 |
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 |
|
ISO |
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 |
ClinVar |
PMID:19066229 PMID:21507883 PMID:24105752 |
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NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 |
ClinVar |
PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19309689 PMID:19650864 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22315435 PMID:22361007 PMID:22646272 PMID:23201303 PMID:23354651 PMID:24033266 PMID:24105752 PMID:25082979 PMID:25097207 PMID:25741868 PMID:26956250 PMID:28492532 More...
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NCBI chr 1:69,614,744...69,622,570
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G |
Khdc3 |
KH domain containing 3, subcortical maternal complex member |
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ISO |
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 |
OMIM ClinVar |
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 PMID:23232697 PMID:24033266 More...
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NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248
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G |
Mei1 |
meiotic double-stranded break formation protein 1 |
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ISO |
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 |
OMIM ClinVar |
PMID:25741868 PMID:30388401 |
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NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
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G |
C1h11orf80 |
similar to human chromosome 11 open reading frame 80 |
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ISO |
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 |
OMIM ClinVar |
PMID:25741868 PMID:30388401 |
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NCBI chr 1:201,902,564...201,989,945
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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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 |
Alb |
albumin |
disease_progression |
ISO |
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RGD |
PMID:17195148 |
RGD:11036098 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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G |
Ccbe1 |
collagen and calcium binding EGF domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19911200 |
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NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
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G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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G |
Ctsa |
cathepsin A |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
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G |
Dhcr24 |
24-dehydrocholesterol reductase |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
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G |
Dnah14 |
dynein axonemal heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr13:93,322,653...93,540,706
Ensembl chr13:93,322,711...93,538,646
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G |
Dnah9 |
dynein, axonemal, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 |
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NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
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G |
Ehbp1l1 |
EH domain binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
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G |
Fen1 |
flap structure-specific endonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003
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G |
Foxc2 |
forkhead box C2 |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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G |
Foxp3 |
forkhead box P3 |
|
ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 PMID:25741868 PMID:28492532 PMID:28778586 PMID:28783662 PMID:30293990 PMID:30443250 PMID:31130284 PMID:33637067 More...
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NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Fzd6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:26036949 |
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NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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G |
Galnt14 |
polypeptide N-acetylgalactosaminyltransferase 14 |
|
ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192
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G |
Gusb |
glucuronidase, beta |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 PMID:31130284 PMID:31497474 More...
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NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
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G |
Hba-a3 |
hemoglobin alpha, adult chain 3 |
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ISO |
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 PMID:20412082 PMID:20507641 PMID:20642338 PMID:23822871 PMID:24275569 PMID:24351118 PMID:24829075 PMID:25741868 PMID:26460264 PMID:26467025 PMID:27173219 PMID:27271331 More...
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NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:31222966 PMID:31775759 More...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kif19 |
kinesin family member 19 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr10:99,800,185...99,826,546
Ensembl chr10:99,799,400...99,826,546
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:24549645 PMID:25741868 |
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NCBI chr 4:178,185,418...178,218,484
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Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:31222966 PMID:31775759 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Lztr1 |
leucine zipper like post translational regulator 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 |
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NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Mocs3 |
molybdenum cofactor synthesis 3 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890
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Mybphl |
myosin binding protein H-like |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824
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Myo18a |
myosin XVIIIa |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr10:62,654,218...62,755,464
Ensembl chr10:62,654,281...62,755,468
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Myom1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 PMID:28492532 PMID:31130284 |
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NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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Myrf |
myelin regulatory factor |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Neb |
nebulin |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 PMID:28492532 More...
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NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
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Neu1 |
neuraminidase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
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NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 PMID:30655378 PMID:30887001 PMID:31091145 PMID:31624108 PMID:31680349 PMID:32981126 PMID:33027564 More...
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NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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Prpf19 |
pre-mRNA processing factor 19 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662
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Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16032767 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16566035 PMID:16990350 PMID:17020470 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18470943 PMID:18562489 PMID:18678287 PMID:19008228 PMID:19020799 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19835954 PMID:20651068 PMID:21106241 PMID:21365683 PMID:21597774 PMID:21784453 PMID:22371576 PMID:22420426 PMID:22681964 PMID:23321623 PMID:24033266 PMID:24183200 PMID:24628801 PMID:24718990 PMID:24803665 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27030275 PMID:27069254 PMID:27276561 PMID:28492532 PMID:30266093 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rapsn |
receptor-associated protein of the synapse |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:10449659 PMID:25741868 PMID:31680349 |
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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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RGD1309106 |
similar to hypothetical protein |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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Rit1 |
Ras-like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:23791108 PMID:24469055 PMID:25049390 PMID:25124994 PMID:25741868 PMID:26242988 PMID:26446362 PMID:26714497 PMID:26757980 PMID:27101134 PMID:28492532 More...
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NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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Rock2 |
Rho-associated coiled-coil containing protein kinase 2 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 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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Ryr3 |
ryanodine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 |
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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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Serpina11 |
serpin family A member 11 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670
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Sftpa1 |
surfactant protein A1 |
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ISO |
protein:decreased expression:lung |
RGD |
PMID:7590701 |
RGD:4143453 |
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Shoc2 |
SHOC2 leucine-rich repeat scaffold protein |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 |
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NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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Slc26a3 |
solute carrier family 26 member 3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 |
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NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
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Suz12 |
SUZ12 polycomb repressive complex 2 subunit |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Svopl |
SVOP like |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 4:66,697,550...66,751,699
Ensembl chr 4:66,698,177...66,758,978
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Thsd1 |
thrombospondin type 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Ubn1 |
ubinuclein 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010
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Vps13d |
vacuolar protein sorting 13 homolog D |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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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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Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia |
OMIM ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
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NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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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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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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Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Hdac3 |
histone deacetylase 3 |
severity |
ISO |
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RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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Il18 |
interleukin 18 |
severity |
ISO |
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RGD |
PMID:28697498 |
RGD:14696655 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23627780 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28851649 |
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NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 |
OMIM ClinVar |
PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:28492532 PMID:28924228 PMID:29238877 PMID:32650689 PMID:33223529 More...
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NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Abcb11 |
ATP binding cassette subfamily B member 11 |
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ISO |
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 |
ClinVar |
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:20232290 PMID:20583290 PMID:20683201 PMID:23022423 PMID:23279303 PMID:23750872 PMID:24231640 PMID:24339557 PMID:24402531 PMID:25741868 PMID:26126923 PMID:26858187 PMID:27050426 PMID:27153395 PMID:27426735 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:30091450 PMID:30934130 PMID:31745229 PMID:32309332 PMID:32581362 PMID:32808743 More...
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NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb4 |
ATP binding cassette subfamily B member 4 |
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ISO |
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 |
OMIM ClinVar |
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16199547 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19185004 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26900700 PMID:27256251 PMID:28039895 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:31000363 PMID:31130284 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32321542 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33390354 PMID:33915153 PMID:34016879 More...
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NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20194756 PMID:28167773 |
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NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Hspg2 |
heparan sulfate proteoglycan 2 |
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ISO |
ClinVar Annotator: match by term: Lethal Kniest-like syndrome |
ClinVar |
PMID:9536098 PMID:11279527 PMID:17576681 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29620724 PMID:29901129 PMID:30362252 PMID:34244600 PMID:34906502 More...
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NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Ldlrad2 |
low density lipoprotein receptor class A domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Lethal Kniest-like syndrome |
ClinVar |
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
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Mdfic |
MyoD family inhibitor domain containing |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 12 |
OMIM ClinVar |
PMID:35235341 |
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NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Thsd1 |
thrombospondin type 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 13 |
OMIM ClinVar |
PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 |
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NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Calcrl |
calcitonin receptor like receptor |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 8 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
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G |
C3 |
complement C3 |
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ISO |
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RGD |
PMID:8746955 |
RGD:7401278 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
associated with HIV Infections |
RGD |
PMID:16250882 |
RGD:5683897 |
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16041010 |
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NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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G |
Tlr4 |
toll-like receptor 4 |
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IEP |
mRNA,protein:increased expression:mammary gland: |
RGD |
PMID:21691936 |
RGD:7777124 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr9 |
toll-like receptor 9 |
resistance |
IEP |
mRNA:increased expression:mammary gland (rat) |
RGD |
PMID:17321466 |
RGD:5130197 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Pah |
phenylalanine hydroxylase |
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ISO |
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RGD |
PMID:14654659 |
RGD:1601526 |
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
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G |
Psph |
phosphoserine phosphatase |
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IEP |
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RGD |
PMID:7201630 |
RGD:2308873 |
NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
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G |
Agt |
angiotensinogen |
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IEP |
mRNA:increased expression:lung |
RGD |
PMID:14605247 |
RGD:11039054 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr2 |
angiotensin II receptor, type 2 |
treatment |
IMP |
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RGD |
PMID:14605247 |
RGD:11039054 |
NCBI chr X:112,119,673...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Atf2 |
activating transcription factor 2 |
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ISS |
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MouseDO |
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NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
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ISO |
protein:increased expression:broncho-alveolar lavage fluid, meconium |
RGD |
PMID:21567110 |
RGD:5144123 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Actg2 |
actin gamma 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Megacystis |
ClinVar |
PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:27007401 PMID:27481187 PMID:28422808 PMID:29781137 PMID:31769566 PMID:33294969 More...
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NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
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G |
Foxf1 |
forkhead box F1 |
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ISO |
ClinVar Annotator: match by term: Fetal megacystis |
ClinVar |
PMID:25741868 |
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NCBI chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738
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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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G |
Pkp2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: MOPD 1 |
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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G |
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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G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
OMIM ClinVar |
PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 PMID:9158151 PMID:9221765 PMID:9536098 PMID:10195214 PMID:14719537 PMID:15907919 PMID:16199547 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22406191 PMID:22728938 PMID:23037934 PMID:24121633 PMID:25348405 PMID:25450229 PMID:25741868 PMID:25741885 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:29395675 PMID:30177536 PMID:31680349 PMID:33216040 More...
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NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
OMIM ClinVar |
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18414213 PMID:19526372 PMID:21532570 PMID:23108489 PMID:24033266 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:29382405 PMID:29390429 PMID:30467950 PMID:31560172 PMID:32070632 PMID:32360402 PMID:32528171 More...
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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 |
Chrng |
cholinergic receptor nicotinic gamma subunit |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
OMIM ClinVar |
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30868735 PMID:31230720 PMID:32901917 PMID:33060286 PMID:34008892 PMID:34440395 More...
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NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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G |
Prss56 |
serine protease 56 |
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ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
ClinVar |
PMID:19526372 PMID:21532570 PMID:24033266 PMID:28492532 |
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NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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G |
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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G |
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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G |
Cftr |
CF transmembrane conductance regulator |
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ISO |
ClinVar Annotator: match by term: Fetal cystic hygroma |
ClinVar |
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
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NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Lztr1 |
leucine zipper like post translational regulator 1 |
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ISO |
ClinVar Annotator: match by term: Fetal cystic hygroma |
ClinVar |
PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31533111 PMID:31825158 More...
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NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Nuchal bleb, familial |
ClinVar |
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
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NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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G |
Agt |
angiotensinogen |
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ISO |
ClinVar Annotator: match by term: Anhydramnios |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
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ISO |
ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
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G |
Inf2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Oligohydramnios |
ClinVar |
PMID:25741868 |
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NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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G |
Pdgfa |
platelet derived growth factor subunit A |
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IEP |
mRNA, protein:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
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 |
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IEP |
mRNA, protein:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
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IEP |
mRNA:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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IEP |
mRNA:increased expression:lung |
RGD |
PMID:17519529 |
RGD:2292203 |
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Pdpn |
podoplanin |
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IEP |
mRNA, protein:decreased expression:lung |
RGD |
PMID:11839536 |
RGD:2292243 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO |
ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:20413436 PMID:21274727 PMID:25124979 PMID:25741868 PMID:26695994 PMID:27225849 PMID:28375157 PMID:28492532 PMID:30773290 PMID:32799815 PMID:33532864 PMID:35005812 More...
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NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios |
ClinVar |
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 PMID:35005812 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Tle6 |
TLE family member 6, subcortical maternal complex member |
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ISO |
ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 |
OMIM ClinVar |
PMID:25741868 PMID:26537248 PMID:36271123 |
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NCBI chr 7:8,107,050...8,118,639
Ensembl chr 7:8,107,207...8,118,639
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G |
Padi6 |
peptidyl arginine deiminase 6 |
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ISO |
ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 |
OMIM ClinVar |
PMID:25741868 PMID:27545678 PMID:34987164 |
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NCBI chr 5:153,022,089...153,037,376
Ensembl chr 5:153,021,965...153,037,414
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G |
Ednrb |
endothelin receptor type B |
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IAGP |
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RGD |
PMID:8570650 |
RGD:628515 |
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Fam20c |
FAM20C, golgi associated secretory pathway kinase |
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ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:25558065 |
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NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
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RGD |
PMID:12893777 |
RGD:11344906 |
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242822 |
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NCBI chr15:302,078...1,001,198
Ensembl chr15:302,214...1,001,198
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G |
Lamc3 |
laminin subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33639934 |
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NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697
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G |
Pomgnt2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
|
ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:22958903 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31130284 |
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NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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G |
Spdl1 |
spindle apparatus coiled-coil protein 1 |
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ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:25558065 |
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NCBI chr10:19,269,125...19,294,213
Ensembl chr10:19,269,127...19,294,127
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G |
Wdr81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: Neonatal death |
ClinVar |
PMID:25558065 PMID:25741868 PMID:28556411 |
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NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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G |
Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
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RGD |
PMID:25196150 |
RGD:155882481 |
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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G |
Alpg |
alkaline phosphatase, germ cell |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836
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G |
Alpi |
alkaline phosphatase, intestinal |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877
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G |
Alpp |
alkaline phosphatase, placental |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606
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G |
Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,802,791...86,928,860
Ensembl chr 9:86,802,868...86,928,860
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G |
Atg16l1 |
autophagy related 16-like 1 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
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G |
B3gnt7 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170
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G |
Cab39 |
calcium binding protein 39 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,463,008...86,524,545
Ensembl chr 9:86,463,095...86,524,544
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G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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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 |
Chrng |
cholinergic receptor nicotinic gamma subunit |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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G |
Cops7b |
COP9 signalosome subunit 7B |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967
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G |
Ctr9 |
CTR9 homolog, Paf1/RNA polymerase II complex component |
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ISO |
ClinVar Annotator: match by term: Predisposition to Wilms tumor |
ClinVar |
PMID:25099282 PMID:28492532 |
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NCBI chr 1:165,137,277...165,167,303
Ensembl chr 1:165,137,215...165,167,303
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G |
Dgkd |
diacylglycerol kinase, delta |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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G |
Dis3l2 |
DIS3-like 3'-5' exoribonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23486540 PMID:23576526 PMID:23594738 PMID:23613427 PMID:23756462 PMID:24141620 PMID:25640679 PMID:25670083 PMID:25741868 PMID:25741875 PMID:26689913 PMID:27153395 PMID:27431325 PMID:28328139 PMID:28492532 PMID:29625052 PMID:30344923 PMID:30359267 PMID:31350202 PMID:31942411 PMID:33332384 PMID:33719213 PMID:34130653 More...
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NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616
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G |
Dnajb3 |
DnaJ heat shock protein family (Hsp40) member B3 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,795,542...88,796,555
Ensembl chr 9:88,795,488...88,796,560
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G |
Ecel1 |
endothelin converting enzyme-like 1 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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G |
Efhd1 |
EF-hand domain family, member D1 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
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G |
Eif4e2 |
eukaryotic translation initiation factor 4E family member 2 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,886,078...87,901,058
Ensembl chr 9:87,878,085...87,914,482
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G |
Gigyf2 |
GRB10 interacting GYF protein 2 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
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G |
Gpr55 |
G protein-coupled receptor 55 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613
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G |
Hjurp |
Holliday junction recognition protein |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728
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G |
Htr2b |
5-hydroxytryptamine receptor 2B |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,735,793...86,756,640
Ensembl chr 9:86,742,102...86,755,108
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G |
Itm2c |
integral membrane protein 2C |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742
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G |
Kcnj13 |
potassium inwardly-rectifying channel, subfamily J, member 13 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
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G |
LOC100362216 |
hypothetical protein LOC100362216 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185
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G |
LOC120094883 |
small nucleolar RNA SNORD82 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586
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G |
LOC120094885 |
small nucleolar RNA SNORD20 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147
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G |
Mroh2a |
maestro heat-like repeat family member 2A |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607
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G |
Ncl |
nucleolin |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136
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G |
Neu2 |
neuraminidase 2 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,218,494...88,267,356
Ensembl chr 9:88,249,135...88,267,355
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G |
Ngef |
neuronal guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914
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G |
Nmur1 |
neuromedin U receptor 1 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684
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G |
Nppc |
natriuretic peptide C |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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G |
Pde6d |
phosphodiesterase 6D |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,192,991...87,237,926
Ensembl chr 9:87,192,983...87,237,969
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G |
Prss56 |
serine protease 56 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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G |
Psmd1 |
proteasome 26S subunit, non-ATPase 1 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
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G |
Ptma |
prothymosin alpha |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
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G |
Sag |
S-antigen visual arrestin |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
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G |
Snorc |
secondary ossification center associated regulator of chondrocyte maturation |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,140,419...88,145,891
Ensembl chr 9:88,140,419...88,145,891
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G |
Sp100 |
SP100 nuclear antigen |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034
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G |
Sp110 |
SP110 nuclear body protein |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
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G |
Sp140 |
SP140 nuclear body protein |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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G |
Spata3 |
spermatogenesis associated 3 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272
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G |
Spp2 |
secreted phosphoprotein 2 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688
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G |
Tex44 |
testis expressed 44 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102
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G |
Trpm8 |
transient receptor potential cation channel, subfamily M, member 8 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a2 |
UDP glucuronosyltransferase 1 family, polypeptide A2 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a3 |
UDP glycosyltransferase 1 family, polypeptide A3 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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