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: | Female Urogenital Diseases |
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Accession: | DOID:9002739
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browse the term
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Definition: | Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). |
Synonyms: | exact_synonym: | Female Genitourinary Disease; Female Genitourinary Diseases; Female Urogenital Disease |
| primary_id: | MESH:D052776; RDO:0005654 |
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GViewer not supported for the selected species.
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AMH |
anti-Mullerian hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr 6:2,047,756...2,051,073
Ensembl chr 6:2,048,319...2,050,958
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AMHR2 |
anti-Mullerian hormone receptor type 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr11:49,524,864...49,534,774
Ensembl chr11:49,525,641...49,534,712
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BMPR1A |
bone morphogenetic protein receptor type 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr 9:44,944,463...45,108,832
Ensembl chr 9:44,941,460...45,027,275
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EMX2 |
empty spiracles homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr 9:110,347,043...110,353,647
Ensembl chr 9:110,347,379...110,353,643
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ESR1 |
estrogen receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
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HOXA10 |
homeobox A10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr21:31,189,240...31,198,244
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HOXA11 |
homeobox A11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr21:31,180,232...31,187,709
Ensembl chr21:31,183,682...31,186,010
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HOXA13 |
homeobox A13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr21:31,168,239...31,175,960
Ensembl chr21:31,168,793...31,173,056
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IGF1 |
insulin like growth factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
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LHX1 |
LIM homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr16:30,843,062...30,850,182
Ensembl chr16:30,842,652...30,849,465
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LIF |
LIF interleukin 6 family cytokine |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr19:13,121,261...13,127,663
Ensembl chr19:13,121,297...13,127,679
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LOC103216393 |
paired box protein Pax-2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr 9:93,763,975...93,847,180
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MSX2 |
msh homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16513791 |
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NCBI chr23:76,873,499...76,879,935
Ensembl chr23:76,873,669...76,879,553
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TIMP1 |
TIMP metallopeptidase inhibitor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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TP63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr15:83,861,489...84,126,675
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WNT4 |
Wnt family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr20:110,517,391...110,543,802
Ensembl chr20:110,517,564...110,541,203
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WNT5A |
Wnt family member 5A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr22:16,809,454...16,836,815
Ensembl chr22:16,809,451...16,825,048
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WNT7A |
Wnt family member 7A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chr22:49,805,415...49,863,115
Ensembl chr22:49,805,463...49,862,830
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FANCL |
FA complementation group L |
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ISO |
OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 |
MouseDO |
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NCBI chr14:48,725,447...48,803,892
Ensembl chr14:48,725,541...48,805,356
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FSHR |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:58,013,405...58,211,528
Ensembl chr14:58,013,742...58,212,755
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MRPS22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29566152 |
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NCBI chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532
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NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19246354 |
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NCBI chr12:13,640,453...13,666,748
Ensembl chr12:13,640,473...13,666,863
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SRY |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 1 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr X:927,143...928,924
Ensembl chr X:927,692...928,303
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SOX9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 2 |
ClinVar |
PMID:21208124 PMID:22051515 |
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NCBI chr16:49,519,749...49,523,967
Ensembl chr16:49,518,185...49,523,898
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ABCB1 |
ATP binding cassette subfamily B member 1 |
treatment |
ISO |
DNA:SNP: : rs10276036(human) DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human) |
RGD |
PMID:23372834 PMID:24517233 |
RGD:11098698 RGD:39456119 |
NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274
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ARHGAP44 |
Rho GTPase activating protein 44 |
disease_progression |
ISO |
DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human) DNA:SNP:intron: (rs2072255) (human) |
RGD |
PMID:21107268 PMID:28069446 |
RGD:401901288 RGD:401901289 |
NCBI chr16:12,125,543...12,328,203
Ensembl chr16:12,125,574...12,330,501
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BST2 |
bone marrow stromal cell antigen 2 |
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ISO |
DNA:SNPs: : |
RGD |
PMID:26885809 |
RGD:14398494 |
NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060
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CCR5 |
C-C motif chemokine receptor 5 |
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ISO |
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to |
ClinVar |
PMID:9742978 PMID:12610055 PMID:12815099 PMID:25741868 |
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NCBI chr22:7,803,794...7,818,112
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CD209 |
CD209 molecule |
disease_progression |
ISO |
associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) |
RGD |
PMID:17530998 |
RGD:39939010 |
NCBI chr 6:7,219,576...7,235,755
Ensembl chr 6:7,228,378...7,235,208
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CD4 |
CD4 molecule |
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ISO |
associated with drug dependence; protein:increased expression:temporal lobe (human) |
RGD |
PMID:16873198 |
RGD:407420271 |
NCBI chr11:6,824,797...6,856,440
Ensembl chr11:6,825,245...6,853,852
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CD40LG |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:9499800 |
RGD:11344976 |
NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639
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CD68 |
CD68 molecule |
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ISO |
associated with drug dependence; protein:increased expression:temporal lobe (human) |
RGD |
PMID:16873198 |
RGD:407420271 |
NCBI chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042
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CD8A |
CD8 subunit alpha |
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ISO |
associated with drug dependence; protein:increased expression:temporal lobe (human) |
RGD |
PMID:16873198 |
RGD:407420271 |
NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885
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ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
DNA:polymorphism:exon:p.K751Q(human) |
RGD |
PMID:20127180 |
RGD:5688740 |
NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
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IDO1 |
indoleamine 2,3-dioxygenase 1 |
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ISO |
associated with pulmonary tuberculosis;protein:increased expression:blood (human) |
RGD |
PMID:32369456 |
RGD:39939073 |
NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505
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IFNG |
interferon gamma |
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ISO |
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to |
ClinVar |
PMID:12854077 |
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NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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IGF2 |
insulin like growth factor 2 |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:11232005 |
RGD:5509969 |
NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388
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IL2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9861562 |
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NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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NCR1 |
natural cytotoxicity triggering receptor 1 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) |
RGD |
PMID:27382604 |
RGD:40818276 |
NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961
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NCR3 |
natural cytotoxicity triggering receptor 3 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) |
RGD |
PMID:27382604 |
RGD:40818276 |
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TNF |
tumor necrosis factor |
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ISO |
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RGD |
PMID:8548330 |
RGD:12904035 |
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TNFRSF1A |
TNF receptor superfamily member 1A |
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ISO |
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RGD |
PMID:8548330 |
RGD:12904035 |
NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902
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TNFRSF1B |
TNF receptor superfamily member 1B |
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ISO |
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RGD |
PMID:8548330 |
RGD:12904035 |
NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497
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BMPR1B |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES |
OMIM ClinVar |
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 PMID:35034853 More...
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KDR |
kinase insert domain receptor |
treatment severity |
ISO |
mRNA, protein:increased expression:endometrium |
RGD |
PMID:31596310 |
RGD:126925216 |
NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771
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VEGFA |
vascular endothelial growth factor A |
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ISO |
mRNA, protein:increased expression:endometrium |
RGD |
PMID:31596310 |
RGD:126925216 |
NCBI chr17:28,377,959...28,394,508
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ADRB2 |
adrenoceptor beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
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NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401
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EPO |
erythropoietin |
treatment |
ISO |
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RGD |
PMID:20818790 |
RGD:10395393 |
NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908
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GC |
GC vitamin D binding protein |
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ISO |
associated with HIV Infections;protein:increased expression:cerebrospinal fluid: |
RGD |
PMID:17929958 |
RGD:5509882 |
NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265
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IL1B |
interleukin 1 beta |
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ISO |
protein:increased expression:neocortex |
RGD |
PMID:17678975 |
RGD:1626641 |
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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INSR |
insulin receptor |
severity |
ISO |
protein:increased expression:cerebrospinal fluid, plasma |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592
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IRS1 |
insulin receptor substrate 1 |
severity |
ISO |
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chr10:112,748,283...112,812,368
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NEFL |
neurofilament light chain |
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ISO |
protein:increased expression:CSF (human) associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) |
RGD |
PMID:27400930 PMID:30105502 |
RGD:127284876 RGD:127284885 |
NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222
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NPY |
neuropeptide Y |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:8815163 |
RGD:10431910 |
NCBI chr21:34,068,533...34,076,205
Ensembl chr21:34,068,530...34,075,127
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OPRM1 |
opioid receptor mu 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
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NCBI chr13:81,568,295...81,650,005
Ensembl chr13:81,568,732...81,625,088
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PDGFB |
platelet derived growth factor subunit B |
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ISO |
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RGD |
PMID:21368226 |
RGD:6482787 |
NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395
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SLC6A4 |
solute carrier family 6 member 4 |
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ISO |
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RGD |
PMID:25404050 |
RGD:38676266 |
NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616
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AGTR1 |
angiotensin II receptor type 1 |
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ISO |
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RGD |
PMID:2 |
RGD:1303381 |
NCBI chr15:41,957,826...42,002,776
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AGTR2 |
angiotensin II receptor type 2 |
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ISO |
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RGD |
PMID:2 |
RGD:1303381 |
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EGF |
epidermal growth factor |
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ISO |
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RGD |
PMID:19357719 |
RGD:6906909 |
NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516
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MTOR |
mechanistic target of rapamycin kinase |
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ISO |
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RGD |
PMID:23678040 |
RGD:7245474 |
NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020
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MYH9 |
myosin heavy chain 9 |
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ISO |
protein:decreased expression:glomerulus |
RGD |
PMID:22313957 |
RGD:6903274 |
NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671
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NOTCH4 |
notch receptor 4 |
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ISO |
protein: increased expression: kidney |
RGD |
PMID:20706108 |
RGD:6480788 |
NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365
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NPHS1 |
NPHS1 adhesion molecule, nephrin |
treatment |
ISO |
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RGD |
PMID:17229913 PMID:19188342 |
RGD:38596324 RGD:38599164 |
NCBI chr 6:30,736,869...30,763,054
Ensembl chr 6:30,736,966...30,762,929
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BCL2 |
BCL2 apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
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NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
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CD4 |
CD4 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9546790 |
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NCBI chr11:6,824,797...6,856,440
Ensembl chr11:6,825,245...6,853,852
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TNFRSF8 |
TNF receptor superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9379333 |
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NCBI chr20:119,656,183...119,736,151
Ensembl chr20:119,657,614...119,715,078
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ABHD2 |
abhydrolase domain containing 2, acylglycerol lipase |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr29:7,631,436...7,742,209
Ensembl chr29:7,631,412...7,740,394
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ADAMTSL3 |
ADAMTS like 3 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr29:1,592,205...1,974,406
Ensembl chr29:1,592,300...1,972,722
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ADARB2 |
adenosine deaminase RNA specific B2 (inactive) |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 9:1,136,461...1,644,196
Ensembl chr 9:1,137,037...1,301,657
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AHCTF1 |
AT-hook containing transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr25:83,889,934...83,978,965
Ensembl chr25:83,892,508...83,978,935
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AMELX |
amelogenin X-linked |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr X:9,927,740...9,934,104
Ensembl chr X:9,741,594...9,745,776 Ensembl chr X:9,741,594...9,745,776
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AMFR |
autocrine motility factor receptor |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 5:42,276,672...42,334,508
Ensembl chr 5:42,275,584...42,334,207
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ANKRD24 |
ankyrin repeat domain 24 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:3,932,677...3,972,476
Ensembl chr 6:3,949,211...3,972,176
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ANOS1 |
anosmin 1 |
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ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:27657687 PMID:28492532 PMID:32870266 |
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NCBI chr X:7,012,410...7,223,223
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AP3B2 |
adaptor related protein complex 3 subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr29:2,943,836...2,994,655
Ensembl chr29:2,943,919...2,994,700
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APBA3 |
amyloid beta precursor protein binding family A member 3 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:3,505,907...3,517,464
Ensembl chr 6:3,506,044...3,517,462
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APC |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
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ARHGAP6 |
Rho GTPase activating protein 6 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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ARSA |
arylsulfatase A |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr19:33,102,803...33,105,958
Ensembl chr19:33,100,117...33,105,926
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ASMTL |
acetylserotonin O-methyltransferase like |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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ATCAY |
ATCAY kinesin light chain interacting caytaxin |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:3,643,754...3,678,864
Ensembl chr 6:3,643,793...3,675,263
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ATP10B |
ATPase phospholipid transporting 10B (putative) |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr23:62,931,458...63,143,624
Ensembl chr23:62,931,078...63,051,383
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AVEN |
apoptosis and caspase activation inhibitor |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr26:48,868,244...49,048,037
Ensembl chr26:48,868,475...49,050,258
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AXL |
AXL receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32870266 |
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NCBI chr 6:35,537,718...35,580,143
Ensembl chr 6:35,537,773...35,580,716
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BCAP29 |
B cell receptor associated protein 29 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr21:76,501,128...76,539,491
Ensembl chr21:76,501,663...76,543,758
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G |
BMP15 |
bone morphogenetic protein 15 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr X:47,713,434...47,722,818
Ensembl chr X:47,713,957...47,719,777
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G |
BMP4 |
bone morphogenetic protein 4 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225
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G |
BNC1 |
basonuclin zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr29:2,331,958...2,360,832
Ensembl chr29:2,349,650...2,360,804
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G |
BTBD1 |
BTB domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr29:2,580,373...2,636,988
Ensembl chr29:2,580,441...2,637,084
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G |
CAPZA1 |
capping actin protein of muscle Z-line subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr20:20,968,348...21,017,256
Ensembl chr20:20,969,828...20,991,971
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CCDC148 |
coiled-coil domain containing 148 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr10:43,581,311...43,859,345
Ensembl chr10:43,582,307...43,768,387
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G |
CCSER1 |
coiled-coil serine rich protein 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 7:38,480,586...39,877,457
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G |
CDK13 |
cyclin dependent kinase 13 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr21:18,551,273...18,688,889
Ensembl chr21:18,553,446...18,688,525
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G |
CHAF1A |
chromatin assembly factor 1 subunit A |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:4,134,405...4,174,281
Ensembl chr 6:4,137,738...4,174,988
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:18414213 PMID:21158681 PMID:22539353 PMID:24033266 PMID:25077900 PMID:25741868 PMID:28492532 PMID:32870266 More...
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NCBI chr 8:56,654,939...56,782,803
Ensembl chr 8:56,657,826...56,785,804
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G |
CNTLN |
centlein |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr12:62,157,153...62,511,938
Ensembl chr12:62,156,609...62,511,412
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G |
CPB2 |
carboxypeptidase B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16167916 |
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NCBI chr 3:24,108,854...24,161,669
Ensembl chr 3:24,109,416...24,161,408
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G |
CPEB1 |
cytoplasmic polyadenylation element binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr29:3,005,891...3,106,732
Ensembl chr29:3,006,532...3,106,793
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G |
CREB3L3 |
cAMP responsive element binding protein 3 like 3 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:3,905,774...3,922,623
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G |
CUNH15orf40 |
chromosome unknown C15orf40 homolog |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr29:2,641,930...2,652,387
Ensembl chr29:2,642,542...2,649,741
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G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18645707 |
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NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180
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G |
CYP19A1 |
cytochrome P450 family 19 subfamily A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8265607 |
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NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277
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G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211
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G |
DAPK3 |
death associated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:3,713,179...3,729,223
Ensembl chr 6:3,712,170...3,727,929
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G |
DCC |
DCC netrin 1 receptor |
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ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:24808016 PMID:25741868 PMID:32870266 |
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NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697
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G |
DDX1 |
DEAD-box helicase 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr14:92,007,446...92,045,414
Ensembl chr14:92,007,036...92,045,190
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G |
DENND6A |
DENN domain containing 6A |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr22:18,925,960...18,993,689
Ensembl chr22:18,924,829...18,993,575
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G |
DIAPH2 |
diaphanous related formin 2 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr X:85,130,928...86,035,944
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G |
DLC1 |
DLC1 Rho GTPase activating protein |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 8:11,211,230...11,632,278
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G |
DMXL2 |
Dmx like 2 |
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ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:28492532 PMID:32870266 |
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NCBI chr26:31,750,419...31,922,022
Ensembl chr26:31,750,403...31,922,208
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G |
DUSP19 |
dual specificity phosphatase 19 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr10:68,582,797...68,607,249
Ensembl chr10:68,583,314...68,610,537
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G |
DUSP22 |
dual specificity phosphatase 22 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr17:71,798,515...71,855,642
Ensembl chr17:71,799,014...71,855,601
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G |
EBI3 |
Epstein-Barr virus induced 3 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:3,975,805...3,985,389
Ensembl chr 6:3,976,228...3,984,962
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G |
EEF2 |
eukaryotic translation elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:3,733,056...3,742,526
Ensembl chr 6:3,732,425...3,742,826
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G |
ERI1 |
exoribonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 8:9,936,951...10,055,407
Ensembl chr 8:10,023,909...10,055,405
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G |
FAM120B |
family with sequence similarity 120 member B |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr13:97,827,304...97,912,176
Ensembl chr13:97,829,758...97,912,116
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G |
FEZF1 |
FEZ family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
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NCBI chr21:91,099,660...91,110,242
Ensembl chr21:91,100,346...91,102,767
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
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NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
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G |
FHIT |
fragile histidine triad diadenosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr22:21,006,010...22,474,056
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G |
FLRT3 |
fibronectin leucine rich transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
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NCBI chr 2:43,252,181...43,267,981
Ensembl chr 2:43,255,347...43,257,296
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G |
FSD1 |
fibronectin type III and SPRY domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:4,042,375...4,059,579
Ensembl chr 6:4,042,500...4,059,600
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G |
FSD2 |
fibronectin type III and SPRY domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr29:2,848,391...2,898,644
Ensembl chr29:2,867,030...2,897,780
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G |
FSHB |
follicle stimulating hormone subunit beta |
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ISO |
follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8220432 |
RGD:1601221 |
NCBI chr 1:34,943,544...34,947,796
Ensembl chr 1:34,943,568...34,946,863
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G |
FSHR |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 |
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NCBI chr14:58,013,405...58,211,528
Ensembl chr14:58,013,742...58,212,755
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G |
FZD6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 8:98,154,173...98,187,864
Ensembl chr 8:98,154,196...98,188,069
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G |
GABRB2 |
gamma-aminobutyric acid type A receptor subunit beta2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr23:63,636,094...63,894,587
Ensembl chr23:63,637,109...63,893,370
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G |
GADL1 |
glutamate decarboxylase like 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr15:75,237,681...75,407,007
Ensembl chr15:75,237,675...75,405,706
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G |
GNRH1 |
gonadotropin releasing hormone 1 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
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NCBI chr 8:23,543,717...23,550,728
Ensembl chr 8:23,542,806...23,547,771
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G |
GNRHR |
gonadotropin releasing hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10523035 PMID:10690855 PMID:12364481 PMID:12574221 PMID:16968799 PMID:22724017 PMID:22745237 PMID:23155690 PMID:24732674 PMID:25741868 PMID:26207952 PMID:28492532 PMID:28611058 PMID:29182666 PMID:32870266 PMID:33223529 More...
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NCBI chr 7:1,205,294...1,225,105
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G |
GPBP1L1 |
GC-rich promoter binding protein 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr20:87,138,049...87,172,752
Ensembl chr20:87,140,045...87,173,424
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G |
GPR37L1 |
G protein-coupled receptor 37 like 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr25:27,276,393...27,283,231
Ensembl chr25:27,277,360...27,283,350
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G |
GTF2H2 |
general transcription factor IIH subunit 2 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 4:65,650,735...65,682,004
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G |
GXYLT1 |
glucoside xylosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr11:38,320,163...38,377,157
Ensembl chr11:38,321,991...38,377,166
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G |
HESX1 |
HESX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 PMID:32870266 More...
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NCBI chr22:18,517,067...18,546,882
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G |
HOMER2 |
homer scaffold protein 2 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr29:2,667,718...2,810,238
Ensembl chr29:2,706,134...2,803,372
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G |
IPP |
intracisternal A particle-promoted polypeptide |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr20:87,060,486...87,100,653
Ensembl chr20:87,061,075...87,099,415
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G |
KBTBD12 |
kelch repeat and BTB domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr22:53,058,678...53,128,987
Ensembl chr22:53,062,102...53,128,978
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G |
KL |
klotho |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:32870266 |
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NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596
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G |
KLB |
klotho beta |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
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NCBI chr27:10,860,301...10,933,480
Ensembl chr27:10,861,760...10,903,400
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G |
LHX3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
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NCBI chr12:1,997,437...2,007,473
Ensembl chr12:2,000,638...2,006,430
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G |
LOC103223791 |
T-cell surface glycoprotein CD1e, membrane-associated |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr20:5,573,905...5,588,338
Ensembl chr20:5,572,822...5,577,064
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G |
LOC103230910 |
histone-lysine N-methyltransferase SMYD3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr25:82,794,748...83,531,942
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G |
LOC103234298 |
zinc finger protein 675 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:21,193,513...21,219,564
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G |
LOC103246654 |
NADPH--cytochrome P450 reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14758361 |
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NCBI chr28:10,145,070...10,230,836
Ensembl chr28:10,197,503...10,230,468
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G |
LRG1 |
leucine rich alpha-2-glycoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr 6:4,272,231...4,275,060
Ensembl chr 6:4,272,214...4,274,460
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G |
LRIG2 |
leucine rich repeats and immunoglobulin like domains 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr20:20,523,713...20,575,577
Ensembl chr20:20,524,352...20,574,224
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G |
MACROD2 |
mono-ADP ribosylhydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
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NCBI chr 2:42,891,656...44,973,129
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G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,848,441...3,881,367
Ensembl chr 6:3,848,401...3,881,412
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G |
MAST2 |
microtubule associated serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr20:86,752,553...87,006,712
Ensembl chr20:86,752,703...87,006,697
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G |
MATK |
megakaryocyte-associated tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,533,363...3,542,034
Ensembl chr 6:3,533,236...3,542,011
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G |
MGLL |
monoglyceride lipase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr22:53,092,970...53,354,316
Ensembl chr22:53,218,672...53,354,448
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G |
MOV10 |
Mov10 RNA helicase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr20:20,939,052...20,966,843
Ensembl chr20:20,939,300...20,965,140
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G |
MPND |
MPN domain containing |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:4,072,007...4,090,524
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|
G |
MRPL54 |
mitochondrial ribosomal protein L54 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,518,333...3,523,178
Ensembl chr 6:3,518,028...3,523,186
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|
G |
MSL3 |
MSL complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr X:10,259,700...10,292,097
Ensembl chr X:10,259,711...10,277,817
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr14:91,685,376...91,692,091
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G |
NAIP |
NLR family apoptosis inhibitory protein |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 4:65,693,044...65,742,527
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G |
NBAS |
NBAS subunit of NRZ tethering complex |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr14:92,045,416...92,475,079
Ensembl chr14:92,078,045...92,474,944
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G |
NCAM2 |
neural cell adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 2:71,075,834...71,622,707
Ensembl chr 2:71,076,654...71,442,031
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G |
NCKAP5 |
NCK associated protein 5 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr10:16,942,009...18,232,033
Ensembl chr10:16,942,071...17,684,017
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|
G |
NKX2-6 |
NK2 homeobox 6 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 8:21,820,940...21,827,124
Ensembl chr 8:21,821,711...21,825,801
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|
G |
NKX3-1 |
NK3 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 8:21,792,069...21,797,258
Ensembl chr 8:21,791,422...21,796,319
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|
G |
NMRK2 |
nicotinamide riboside kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,685,337...3,697,868
Ensembl chr 6:3,688,166...3,697,960
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|
G |
NUP35 |
nucleoporin 35 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr10:68,648,503...68,685,143
Ensembl chr10:68,648,151...68,685,379
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|
G |
OCLN |
occludin |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 4:65,581,943...65,641,516
Ensembl chr 4:65,582,460...65,644,787
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|
G |
OTUD4 |
OTU deubiquitinase 4 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:32870266 |
|
NCBI chr 7:91,709,184...91,756,437
Ensembl chr 7:91,708,767...91,756,793
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|
G |
P2RY8 |
P2Y receptor family member 8 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
|
|
G |
PCSK5 |
proprotein convertase subtilisin/kexin type 5 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr12:86,907,173...87,367,935
Ensembl chr12:87,042,557...87,367,033
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|
G |
PIAS4 |
protein inhibitor of activated STAT 4 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,768,100...3,797,377
|
|
G |
PLIN4 |
perilipin 4 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:4,232,908...4,247,248
Ensembl chr 6:4,229,480...4,246,905
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|
G |
PLIN5 |
perilipin 5 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:4,251,316...4,262,656
Ensembl chr 6:4,251,751...4,261,126
|
|
G |
PNPLA4 |
patatin like phospholipase domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr X:6,247,971...6,396,168
Ensembl chr X:6,363,541...6,394,704
|
|
G |
PNPLA6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:28492532 PMID:32870266 |
|
NCBI chr 6:7,030,802...7,056,664
Ensembl chr 6:7,032,445...7,056,661
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|
G |
POLR3B |
RNA polymerase III subunit B |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:22855961 PMID:25133958 PMID:25741868 PMID:27029625 PMID:27512013 PMID:28492532 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
|
|
NCBI chr11:101,577,134...101,719,214
Ensembl chr11:101,585,900...101,713,126
|
|
G |
PPM1J |
protein phosphatase, Mg2+/Mn2+ dependent 1J |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr20:20,924,437...20,929,923
Ensembl chr20:20,924,571...20,929,749
|
|
G |
PRKAA1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 4:39,516,307...39,553,627
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|
G |
PRL |
prolactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6777091 |
|
NCBI chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631
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|
G |
PROK2 |
prokineticin 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chr22:32,721,188...32,739,348
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|
G |
PROKR2 |
prokineticin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 PMID:22745195 PMID:24830383 PMID:25741868 PMID:28492532 PMID:29161432 PMID:30773290 PMID:31093944 PMID:32870266 More...
|
|
NCBI chr 2:32,791,214...32,801,637
Ensembl chr 2:32,793,305...32,801,054
|
|
G |
PROP1 |
PROP paired-like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:28492532 PMID:32870266 PMID:36407308 PMID:38096238 |
|
NCBI chr23:79,704,746...79,710,013
Ensembl chr23:79,705,287...79,708,566
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|
G |
PSMB1 |
proteasome 20S subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr13:97,682,501...97,701,339
Ensembl chr13:97,682,369...97,701,799
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|
G |
PTCHD1 |
patched domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr X:21,810,530...21,874,109
Ensembl chr X:21,810,956...21,870,417
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|
G |
PUDP |
pseudouridine 5'-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr X:5,209,256...5,603,342
Ensembl chr X:5,490,918...5,602,382
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|
G |
RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:32870266 |
|
NCBI chr10:19,295,294...19,401,595
Ensembl chr10:19,295,351...19,402,212
|
|
G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32870266 |
|
NCBI chr25:9,293,791...9,411,950
Ensembl chr25:9,293,838...9,415,319
|
|
G |
RAMAC |
RNA guanine-7 methyltransferase activating subunit |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr29:2,652,843...2,667,718
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|
G |
RAX2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,524,725...3,528,361
Ensembl chr 6:3,526,250...3,527,354
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|
G |
RHOC |
ras homolog family member C |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr20:20,932,533...20,938,703
Ensembl chr20:20,936,018...20,938,284
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|
G |
RREB1 |
ras responsive element binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr17:64,938,831...65,084,975
Ensembl chr17:64,938,800...65,009,057
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|
G |
SEMA3A |
semaphorin 3A |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:22927827 PMID:25741868 PMID:28492532 PMID:32870266 |
|
NCBI chr21:64,723,860...64,942,705
Ensembl chr21:64,784,039...64,939,682
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|
G |
SEMA3E |
semaphorin 3E |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32870266 |
|
NCBI chr21:65,255,610...65,529,021
Ensembl chr21:65,415,373...65,533,090
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|
G |
SEMA6B |
semaphorin 6B |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:4,276,548...4,304,738
|
|
G |
SERF1A |
small EDRK-rich factor 1A |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
Ensembl chr 4:65,802,600...65,809,714
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|
G |
SH3GL1 |
SH3 domain containing GRB2 like 1, endophilin A2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:4,090,800...4,130,566
Ensembl chr 6:4,091,359...4,130,578
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|
G |
SH3GL3 |
SH3 domain containing GRB2 like 3, endophilin A3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr29:2,009,833...2,177,843
Ensembl chr29:2,009,776...2,177,747
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|
G |
SHANK3 |
SH3 and multiple ankyrin repeat domains 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr19:33,155,695...33,209,679
Ensembl chr19:33,155,770...33,208,224
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|
G |
SHD |
Src homology 2 domain containing transforming protein D |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:4,021,013...4,030,904
Ensembl chr 6:4,022,494...4,030,812
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|
G |
SIRT6 |
sirtuin 6 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,924,230...3,932,583
Ensembl chr 6:3,924,230...3,932,590
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G |
SLC16A1 |
solute carrier family 16 member 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr20:20,694,222...20,741,542
Ensembl chr20:20,727,199...20,739,979
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G |
SLC5A5 |
solute carrier family 5 member 5 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:16,346,361...16,367,833
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|
G |
SLMAP |
sarcolemma associated protein |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr22:19,054,322...19,231,037
Ensembl chr22:19,054,673...19,232,336
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G |
SOX2 |
SRY-box transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:28492532 PMID:32870266 |
|
NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826
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|
G |
SPRY4 |
sprouty RTK signaling antagonist 4 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:23643382 PMID:24033266 PMID:28492532 PMID:32870266 |
|
NCBI chr23:44,931,967...44,946,838
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|
G |
STAP2 |
signal transducing adaptor family member 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:4,059,794...4,065,594
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G |
STS |
steroid sulfatase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr X:5,601,746...5,813,916
Ensembl chr X:5,709,410...5,812,224
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G |
SYCE1 |
synaptonemal complex central element protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr26:53,416,791...53,429,688
Ensembl chr26:53,418,202...53,428,756
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|
G |
TACR3 |
tachykinin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chr 7:51,662,248...51,764,058
Ensembl chr 7:51,665,147...51,762,390
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|
G |
TAFA3 |
TAFA chemokine like family member 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr20:20,912,338...20,920,525
Ensembl chr20:20,915,648...20,917,564
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|
G |
TBP |
TATA-box binding protein |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr13:97,661,905...97,678,640
Ensembl chr13:97,660,864...97,681,497
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G |
TJP3 |
tight junction protein 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,474,639...3,505,801
Ensembl chr 6:3,481,060...3,505,678
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|
G |
TM6SF1 |
transmembrane 6 superfamily member 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr29:2,508,945...2,538,820
Ensembl chr29:2,506,017...2,538,932
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G |
TMEM69 |
transmembrane protein 69 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr20:87,105,289...87,111,450
Ensembl chr20:87,105,508...87,108,728
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|
G |
TMIGD2 |
transmembrane and immunoglobulin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:4,032,790...4,040,261
Ensembl chr 6:4,032,715...4,039,987
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|
G |
TP63 |
tumor protein p63 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr15:83,861,489...84,126,675
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|
G |
TSHZ2 |
teashirt zinc finger homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 2:10,534,064...10,755,420
Ensembl chr 2:10,751,240...10,754,329
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G |
UBXN6 |
UBX domain protein 6 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:4,175,858...4,188,687
Ensembl chr 6:4,175,108...4,188,649
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|
G |
VLDLR |
very low density lipoprotein receptor |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr12:76,900,551...76,933,601
Ensembl chr12:76,899,189...76,933,584
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G |
WDR11 |
WD repeat domain 11 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chr 9:113,631,153...113,687,575
Ensembl chr 9:113,631,401...113,687,574
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|
G |
WDR37 |
WD repeat domain 37 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 9:1,011,478...1,085,569
Ensembl chr 9:1,011,726...1,082,773
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|
G |
WHAMM |
WASP homolog associated with actin, golgi membranes and microtubules |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr29:2,819,140...2,843,292
Ensembl chr29:2,819,367...2,843,144
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|
G |
XPO1 |
exportin 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723
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|
G |
YAF2 |
YY1 associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr11:38,391,203...38,469,679
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|
G |
YJU2 |
YJU2 splicing factor homolog |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,995,769...4,013,288
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|
G |
ZBTB7A |
zinc finger and BTB domain containing 7A |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,802,171...3,824,552
Ensembl chr 6:3,801,046...3,812,884
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|
G |
ZFR2 |
zinc finger RNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:3,560,845...3,626,581
Ensembl chr 6:3,560,961...3,591,183
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|
G |
ZNF124 |
zinc finger protein 124 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr25:84,190,729...84,213,552
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|
G |
ZNF217 |
zinc finger protein 217 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr 2:10,427,584...10,455,308
Ensembl chr 2:10,439,082...10,450,670
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|
G |
ZNF669 |
zinc finger protein 669 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
|
|
G |
ZNF670 |
zinc finger protein 670 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chr25:84,082,881...84,117,947
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|
G |
ZNF695 |
zinc finger protein 695 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chr25:84,034,879...84,061,676
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G |
CCL20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chr10:113,815,099...113,836,562
Ensembl chr10:113,832,573...113,835,736
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G |
CD8A |
CD8 subunit alpha |
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ISO |
mRNA:decreased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
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G |
FOXP3 |
forkhead box P3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:46,349,890...46,365,133
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G |
IL10 |
interleukin 10 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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G |
IL12B |
interleukin 12B |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:40400714 RGD:7829774 |
NCBI chr23:61,714,293...61,731,835
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G |
IL2 |
interleukin 2 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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G |
IL21 |
interleukin 21 |
|
ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:31414711 |
RGD:127285371 |
NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025
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G |
IL4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:40400714 RGD:7829774 |
NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
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G |
IL6 |
interleukin 6 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
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G |
MAPK8 |
mitogen-activated protein kinase 8 |
treatment |
ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425
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G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166
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G |
NCR1 |
natural cytotoxicity triggering receptor 1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961
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G |
PDCD1 |
programmed cell death 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
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G |
PTPN6 |
protein tyrosine phosphatase non-receptor type 6 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr11:6,977,480...6,994,525
Ensembl chr11:6,984,710...6,994,545
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G |
SERPINF1 |
serpin family F member 1 |
disease_progression |
ISO |
mRNA, protein:decreased expression:skin of body (human) |
RGD |
PMID:23569025 |
RGD:27226706 |
NCBI chr16:1,408,453...1,424,197
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|
G |
TGFB1 |
transforming growth factor beta 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
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G |
TLR2 |
toll like receptor 2 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795
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G |
TLR3 |
toll like receptor 3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232
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G |
TLR4 |
toll like receptor 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515
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G |
TLR7 |
toll like receptor 7 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:11,348,520...11,372,132
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G |
TLR8 |
toll like receptor 8 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:11,387,933...11,405,056
Ensembl chr X:11,400,907...11,404,029
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G |
TNF |
tumor necrosis factor |
|
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
|
|
G |
TNFRSF18 |
TNF receptor superfamily member 18 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251
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|
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G |
LOC103230356 |
uncharacterized LOC103230356 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18628394 |
|
NCBI chr25:29,230,358...29,380,617
Ensembl chr25:29,233,558...29,379,922
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|
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G |
PLS3 |
plastin 3 |
|
ISO |
ClinVar Annotator: match by term: Hernia, anterior diaphragmatic |
OMIM ClinVar |
PMID:25741868 PMID:37751738 |
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|
|
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G |
BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26181198 |
|
NCBI chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622
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G |
CFAP251 |
cilia and flagella associated protein 251 |
|
ISO |
ClinVar Annotator: match by term: asthenozoospermia |
ClinVar |
PMID:30122541 |
|
NCBI chr11:117,280,921...117,356,668
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|
G |
FAM83F |
family with sequence similarity 83 member F |
|
ISO |
ClinVar Annotator: match by term: asthenozoospermia |
ClinVar |
PMID:25741868 |
|
NCBI chr19:22,572,387...22,606,348
Ensembl chr19:22,572,483...22,605,897
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|
G |
PLAU |
plasminogen activator, urokinase |
|
ISO |
mRNA, protein:decreased expression:testes, epididymis (rat) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18998460 |
RGD:7241809 |
NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286
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|
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G |
ADGRG2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation |
ClinVar |
PMID:25741868 PMID:27476656 |
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NCBI chr X:17,428,416...17,573,497
Ensembl chr X:17,427,532...17,468,812
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G |
CFTR |
CF transmembrane conductance regulator |
|
ISO |
ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation |
OMIM ClinVar |
PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1284466 PMID:1284477 PMID:1284534 PMID:1284538 PMID:1284540 PMID:1284639 PMID:1347644 PMID:1370365 PMID:1370875 PMID:1371265 PMID:1373935 PMID:1376016 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1380689 PMID:1380943 PMID:1381146 PMID:1381442 PMID:1381723 PMID:1382316 PMID:1384321 PMID:1384328 PMID:1518030 PMID:1536179 PMID:1537190 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1682496 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1710600 PMID:1712898 PMID:1715308 PMID:1721624 PMID:1723032 PMID:1723056 PMID:1756602 PMID:1757965 PMID:1757966 PMID:1903761 PMID:1937486 PMID:1997384 PMID:1998343 PMID:1999830 PMID:2045102 PMID:2135388 PMID:2210767 PMID:2210768 PMID:2210769 PMID:2220803 PMID:2233932 PMID:2233965 PMID:2236053 PMID:2267887 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2397487 PMID:2441227 PMID:2475911 PMID:2565038 PMID:2570460 PMID:3716676 PMID:5371902 PMID:6840743 PMID:7472820 PMID:7475569 PMID:7493947 PMID:7504969 PMID:7505690 PMID:7505694 PMID:7505767 PMID:7506096 PMID:7506605 PMID:7508414 PMID:7509310 PMID:7509564 PMID:7509683 PMID:7509684 PMID:7512860 PMID:7512993 PMID:7513293 PMID:7513889 PMID:7515303 PMID:7516234 PMID:7517264 PMID:7517267 PMID:7517268 PMID:7518829 PMID:7520798 PMID:7521710 PMID:7521937 PMID:7522211 PMID:7522329 PMID:7522901 PMID:7525450 PMID:7525963 PMID:7526685 PMID:7526928 PMID:7529319 PMID:7529962 PMID:7532150 PMID:7533604 PMID:7534040 PMID:7534226 PMID:7534748 PMID:7535742 PMID:7536669 PMID:7537147 PMID:7537148 PMID:7537150 PMID:7538127 PMID:7539080 PMID:7539342 PMID:7540133 PMID:7541274 PMID:7541510 PMID:7542347 PMID:7542778 PMID:7543317 PMID:7543385 PMID:7544319 PMID:7544320 PMID:7544788 PMID:7545856 PMID:7545869 PMID:7550227 PMID:7550243 PMID:7551394 PMID:7560099 PMID:7573058 PMID:7581407 PMID:7586569 PMID:7599637 PMID:7668304 PMID:7680378 PMID:7680525 PMID:7680769 PMID:7681034 PMID:7681035 PMID:7682196 PMID:7683628 PMID:7683952 PMID:7684641 PMID:7684644 PMID:7684646 PMID:7686423 PMID:7686577 PMID:7686820 PMID:7687986 PMID:7689008 PMID:7689009 PMID:7689013 PMID:7689897 PMID:7689902 PMID:7691344 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7693946 PMID:7739684 PMID:7789957 PMID:7868128 PMID:8092189 PMID:8100293 PMID:8163293 PMID:8213163 PMID:8343799 PMID:8406518 PMID:8421472 PMID:8477260 PMID:8522333 PMID:8528204 PMID:8530001 PMID:8533846 PMID:8535440 PMID:8556303 PMID:8605891 PMID:8644755 PMID:8659542 PMID:8662892 PMID:8663008 PMID:8680406 PMID:8698344 PMID:8702904 PMID:8707304 PMID:8707306 PMID:8723695 PMID:8740923 PMID:8741733 PMID:8825494 PMID:8825927 PMID:8829633 PMID:8829643 PMID:8834261 PMID:8844211 PMID:8844213 PMID:8863168 PMID:8880589 PMID:8886242 PMID:8889582 PMID:8910333 PMID:8947061 PMID:8956039 PMID:9003498 PMID:9003508 PMID:9039981 PMID:9043501 PMID:9056552 PMID:9067754 PMID:9067761 PMID:9084934 PMID:9099843 PMID:9101293 PMID:9135274 PMID:9150159 PMID:9164051 PMID:9235853 PMID:9239681 PMID:9254853 PMID:9254864 PMID:9259194 PMID:9259197 PMID:9271620 PMID:9272157 PMID:9272738 PMID:9305991 PMID:9321772 PMID:9374552 PMID:9375855 PMID:9383031 PMID:9401006 PMID:9401110 PMID:9435322 PMID:9439669 PMID:9452048 PMID:9452054 PMID:9475107 PMID:9482579 PMID:9493456 PMID:9499426 PMID:9507391 PMID:9512029 PMID:9521595 PMID:9536098 PMID:9550361 PMID:9550362 PMID:9557894 PMID:9598638 PMID:9618063 PMID:9620832 PMID:9630075 PMID:9683582 PMID:9719631 PMID:9725922 PMID:9736775 PMID:9736778 PMID:9788722 PMID:9799593 PMID:9804160 PMID:9806422 PMID:9822639 PMID:9881185 PMID:9915972 PMID:9920885 PMID:9921909 PMID:9950364 PMID:9950763 PMID:10077727 PMID:10094564 PMID:10103316 PMID:10200050 PMID:10204861 PMID:10206682 PMID:10225950 PMID:10341008 PMID:10351951 PMID:10362539 PMID:10376575 PMID:10386624 PMID:10388469 PMID:10401194 PMID:10425036 PMID:10439967 PMID:10445602 PMID:10453741 PMID:10480369 PMID:10556281 PMID:10562297 PMID:10571949 PMID:10571955 PMID:10601093 PMID:10612827 PMID:10636451 PMID:10639207 PMID:10652351 PMID:10653141 PMID:10653145 PMID:10668931 PMID:10671057 PMID:10719683 PMID:10746558 PMID:10755189 PMID:10762539 PMID:10764788 PMID:10777364 PMID:10782933 PMID:10790220 PMID:10790222 PMID:10794365 PMID:10798368 PMID:10801389 PMID:10812063 PMID:10819640 PMID:10834512 PMID:10836331 PMID:10875853 PMID:10875876 PMID:10909845 PMID:10913957 PMID:10922395 PMID:10923036 PMID:10925568 PMID:10950058 PMID:10963013 PMID:10970190 PMID:10993719 PMID:11005149 PMID:11038458 PMID:11055897 PMID:11069835 PMID:11101688 PMID:11118444 PMID:11137998 PMID:11158459 PMID:11168024 PMID:11180668 PMID:11186891 PMID:11242048 PMID:11278813 PMID:11280952 PMID:11303517 PMID:11336401 PMID:11354633 PMID:11379874 PMID:11388756 PMID:11427889 PMID:11446424 PMID:11448786 PMID:11466205 PMID:11484207 PMID:11491162 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11547256 PMID:11597353 PMID:11668613 PMID:11729110 PMID:11732487 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11781704 PMID:11788090 PMID:11788611 PMID:11796434 PMID:11796591 PMID:11810271 PMID:11883825 PMID:11888281 PMID:11924117 PMID:11933191 PMID:11938353 PMID:11938439 PMID:12000363 PMID:12007216 PMID:12070257 PMID:12070264 PMID:12080183 PMID:12120234 PMID:12124706 PMID:12127423 PMID:12133923 PMID:12167682 PMID:12172395 PMID:12200467 PMID:12357328 PMID:12394343 PMID:12397022 PMID:12400067 PMID:12414835 PMID:12437773 PMID:12439892 PMID:12452372 PMID:12454843 PMID:12503104 PMID:12544470 PMID:12578973 PMID:12624947 PMID:12651858 PMID:12719375 PMID:12732620 PMID:12752573 PMID:12759680 PMID:12767731 PMID:12815607 PMID:12825076 PMID:12843327 PMID:12843337 PMID:12865275 PMID:12874665 PMID:12900515 PMID:12919146 PMID:12938099 PMID:12940920 PMID:12955726 PMID:14526128 PMID:14551163 PMID:14586256 PMID:14618962 PMID:14623323 PMID:14685259 PMID:14685937 PMID:14963811 PMID:14993601 PMID:14998948 PMID:15017334 PMID:15024729 PMID:15025720 PMID:15040442 PMID:15070876 PMID:15074370 PMID:15084222 PMID:15084988 PMID:15088804 PMID:15097853 PMID:15121783 PMID:15126740 PMID:15141088 PMID:15151509 PMID:15176679 PMID:15181619 PMID:15241793 PMID:15246977 PMID:15287992 PMID:15300780 PMID:15333598 PMID:15354332 PMID:15357566 PMID:15357568 PMID:15365999 PMID:15367919 PMID:15367921 PMID:15371902 PMID:15371903 PMID:15371907 PMID:15371908 PMID:15463888 PMID:15463898 PMID:15463907 PMID:15480987 PMID:15482777 PMID:15486385 PMID:15502086 PMID:15504721 PMID:15509635 PMID:15520400 PMID:15536480 PMID:15537723 PMID:15614862 PMID:15638824 PMID:15640323 PMID:15666307 PMID:15698945 PMID:15698946 PMID:15705292 PMID:15727251 PMID:15738290 PMID:15744523 PMID:15758663 PMID:15775704 PMID:15775760 PMID:15776432 PMID:15784035 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15948195 PMID:15952991 PMID:15987793 PMID:15994263 PMID:16020494 PMID:16049310 PMID:16051530 PMID:16075239 PMID:16126774 PMID:16128988 PMID:16132229 PMID:16134171 PMID:16137181 PMID:16189704 PMID:16196493 PMID:16199547 PMID:16202790 PMID:16240056 PMID:16251901 PMID:16263954 PMID:16266832 PMID:16272798 PMID:16275171 PMID:16283068 PMID:16283887 PMID:16339147 PMID:16362824 PMID:16417523 PMID:16429425 PMID:16436643 PMID:16436646 PMID:16442101 PMID:16443646 PMID:16478680 PMID:16488363 PMID:16499810 PMID:16596947 PMID:16617247 PMID:16778407 PMID:16778595 PMID:16784904 PMID:16786510 PMID:16801189 PMID:16840743 PMID:16931591 PMID:16963320 PMID:16980811 PMID:17003641 PMID:17015492 PMID:17035430 PMID:17048214 PMID:17076271 PMID:17098482 PMID:17098864 PMID:17127107 PMID:17175965 PMID:17206681 PMID:17234733 PMID:17244607 PMID:17272608 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17347447 PMID:17348320 PMID:17353351 PMID:17380060 PMID:17407485 PMID:17407489 PMID:17413420 PMID:17440499 PMID:17449517 PMID:17475917 PMID:17481968 PMID:17489851 PMID:17495464 PMID:17507277 PMID:17516627 PMID:17560176 PMID:17572159 PMID:17576681 PMID:17594398 PMID:17617039 PMID:17627383 PMID:17662673 PMID:17663888 PMID:17719933 PMID:17850636 PMID:17890437 PMID:17901983 PMID:17949679 PMID:17968991 PMID:17975025 PMID:18078365 PMID:18167357 PMID:18178635 PMID:18180206 PMID:18230692 PMID:18234567 PMID:18279436 PMID:18301294 PMID:18306312 PMID:18373402 PMID:18394117 PMID:18421494 PMID:18449561 PMID:18456578 PMID:18467194 PMID:18493878 PMID:18500736 PMID:18507830 PMID:18556774 PMID:18567645 PMID:18597042 PMID:18639722 PMID:18685558 PMID:18687795 PMID:18703181 PMID:18716917 PMID:18778819 PMID:18782298 PMID:18796364 PMID:18951463 PMID:19014055 PMID:19014821 PMID:19092437 PMID:19166122 PMID:19176844 PMID:19181743 PMID:19181854 PMID:19202204 PMID:19212293 PMID:19227414 PMID:19265749 PMID:19318035 PMID:19318346 PMID:19324992 PMID:19359498 PMID:19372188 PMID:19406970 PMID:19447078 PMID:19459534 PMID:19491324 PMID:19540513 PMID:19550280 PMID:19625452 PMID:19652440 PMID:19707853 PMID:19710401 PMID:19715466 PMID:19724303 PMID:19734299 PMID:19810821 PMID:19812525 PMID:19823873 PMID:19833837 PMID:19837664 PMID:19843100 PMID:19845690 PMID:19846789 PMID:19878303 PMID:19880712 PMID:19885835 PMID:19897426 PMID:19910374 PMID:19910674 PMID:19914431 PMID:19914443 PMID:19925455 PMID:20021716 PMID:20052365 PMID:20059485 PMID:20100616 PMID:20116881 PMID:20163773 PMID:20167849 PMID:20186691 PMID:20217271 PMID:20233062 PMID:20301295 PMID:20301428 PMID:20381036 PMID:20416310 PMID:20435887 PMID:20448091 PMID:20460946 PMID:20510657 PMID:20522854 PMID:20538955 PMID:20551465 PMID:20580320 PMID:20595578 PMID:20619026 PMID:20628052 PMID:20651897 PMID:20659818 PMID:20667826 PMID:20687163 PMID:20691141 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20717170 PMID:20722470 PMID:20797923 PMID:20837875 PMID:20846557 PMID:20849526 PMID:20865572 PMID:20880762 PMID:20923678 PMID:20932301 PMID:20932506 PMID:20949073 PMID:20974851 PMID:20976528 PMID:20977904 PMID:21083385 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21184098 PMID:21198395 PMID:21228398 PMID:21296036 PMID:21354377 PMID:21411740 PMID:21416780 PMID:21429822 PMID:21474639 PMID:21483833 PMID:21486785 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PMID:25741868 PMID:25741869 PMID:25755212 PMID:25763566 PMID:25781545 PMID:25797027 PMID:25799511 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25900089 PMID:25905921 PMID:25910067 PMID:25940043 PMID:25963003 PMID:25981758 PMID:26003066 PMID:26006199 PMID:26014425 PMID:26070913 PMID:26075213 PMID:26087176 PMID:26095523 PMID:26098992 PMID:26135562 PMID:26146130 PMID:26149808 PMID:26160248 PMID:26182300 PMID:26199320 PMID:26208274 PMID:26277102 PMID:26282188 PMID:26324139 PMID:26348465 PMID:26354092 PMID:26364555 PMID:26429520 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26471113 PMID:26474553 PMID:26493493 PMID:26494713 PMID:26500004 PMID:26526220 PMID:26553470 PMID:26568242 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26631874 PMID:26648081 PMID:26651825 PMID:26683699 PMID:26708955 PMID:26755536 PMID:26795017 PMID:26800689 PMID:26823392 PMID:26826884 PMID:26846474 PMID:26847993 PMID:26856987 PMID:26900683 PMID:26911355 PMID:26946416 PMID:26948992 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27026144 PMID:27081564 PMID:27086061 PMID:27131402 PMID:27143075 PMID:27145507 PMID:27158673 PMID:27171515 PMID:27174726 PMID:27209008 PMID:27214204 PMID:27222777 PMID:27264265 PMID:27298017 PMID:27334259 PMID:27347467 PMID:27364092 PMID:27447098 PMID:27449771 PMID:27469177 PMID:27577878 PMID:27625827 PMID:27659740 PMID:27660821 PMID:27665964 PMID:27673710 PMID:27707539 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27805836 PMID:27812499 PMID:27837951 PMID:27870577 PMID:27895116 PMID:27898234 PMID:27917292 PMID:28027573 PMID:28040058 PMID:28129809 PMID:28152038 PMID:28163942 PMID:28185838 PMID:28194692 PMID:28196530 PMID:28261631 PMID:28325531 PMID:28366727 PMID:28371569 PMID:28392015 PMID:28408918 PMID:28419121 PMID:28440306 PMID:28456595 PMID:28465863 PMID:28492530 PMID:28492532 PMID:28502372 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28608624 PMID:28611235 PMID:28617084 PMID:28646244 PMID:28651844 PMID:28655774 PMID:28711222 PMID:28736296 PMID:28771972 PMID:28785019 PMID:28800122 PMID:28801929 PMID:28830496 PMID:28863137 PMID:28930490 PMID:28944235 PMID:28947035 PMID:28968805 PMID:29040544 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29133775 PMID:29168366 PMID:29173301 PMID:29174009 PMID:29178639 PMID:29208182 PMID:29216686 PMID:29261177 PMID:29271547 PMID:29279204 PMID:29292091 PMID:29298718 PMID:29318594 PMID:29327948 PMID:29360847 PMID:29431110 PMID:29451946 PMID:29484681 PMID:29497617 PMID:29503250 PMID:29504914 PMID:29520692 PMID:29581173 PMID:29589582 PMID:29590070 PMID:29614238 PMID:29668297 PMID:29669919 PMID:29685811 PMID:29750258 PMID:29754320 PMID:29779145 PMID:29805046 PMID:29807875 PMID:29859674 PMID:29884450 PMID:29924856 PMID:29936070 PMID:29944384 PMID:29983195 PMID:29997923 PMID:30019023 PMID:30022950 PMID:30030066 PMID:30046002 PMID:30081288 PMID:30089726 PMID:30134826 PMID:30146269 PMID:30230364 PMID:30232781 PMID:30244528 PMID:30279124 PMID:30293248 PMID:30297908 PMID:30348612 PMID:30389601 PMID:30420730 PMID:30444886 PMID:30487145 PMID:30488522 PMID:30540547 PMID:30548586 PMID:30561903 PMID:30592194 PMID:30600599 PMID:30602999 PMID:30606298 PMID:30609409 PMID:30698611 PMID:30726326 PMID:30758641 PMID:30760291 PMID:30763667 PMID:30811104 PMID:30842938 PMID:30845638 PMID:30851139 PMID:30873022 PMID:30888834 PMID:30930780 PMID:30938940 PMID:30992994 PMID:30993151 PMID:30996306 PMID:31005549 PMID:31016917 PMID:31019283 PMID:31028937 PMID:31029283 PMID:31036917 PMID:31118044 PMID:31126253 PMID:31130284 PMID:31180159 PMID:31187952 PMID:31199594 PMID:31213628 PMID:31245908 PMID:31268981 PMID:31310009 PMID:31328366 PMID:31331863 PMID:31350925 PMID:31447099 PMID:31450232 PMID:31508243 PMID:31523618 PMID:31589614 PMID:31655510 PMID:31665830 PMID:31672438 PMID:31674704 PMID:31682332 PMID:31740593 PMID:31759907 PMID:31776420 PMID:31788264 PMID:31788424 PMID:31808782 PMID:31845523 PMID:31872980 PMID:31883651 PMID:31900120 PMID:31916691 PMID:31978131 PMID:31980526 PMID:31990467 PMID:32003480 PMID:32020786 PMID:32113160 PMID:32126153 PMID:32150665 PMID:32172930 PMID:32204475 PMID:32220772 PMID:32265312 PMID:32281737 PMID:32357917 PMID:32414100 PMID:32429104 PMID:32483343 PMID:32484936 PMID:32512765 PMID:32539862 PMID:32628927 PMID:32630527 PMID:32662942 PMID:32674983 PMID:32687833 PMID:32734384 PMID:32761997 PMID:32773111 PMID:32777524 PMID:32784480 PMID:32819855 PMID:32906206 PMID:32934006 PMID:32935393 PMID:33020115 PMID:33083013 PMID:33097431 PMID:33118704 PMID:33144682 PMID:33195651 PMID:33260873 PMID:33270637 PMID:33296276 PMID:33322690 PMID:33341408 PMID:33365035 PMID:33374015 PMID:33375403 PMID:33393655 PMID:33424627 PMID:33468668 PMID:33470563 PMID:33495079 PMID:33512069 PMID:33567498 PMID:33572515 PMID:33574797 PMID:33613790 PMID:33686728 PMID:33713579 PMID:33771570 PMID:33781744 PMID:33836782 PMID:33855558 PMID:33883100 PMID:33922413 PMID:33946859 PMID:33972190 PMID:34086689 PMID:34099697 PMID:34134972 PMID:34140271 PMID:34145097 PMID:34163370 PMID:34190021 PMID:34196078 PMID:34405919 PMID:34426522 PMID:34442373 PMID:34525262 PMID:34583889 PMID:34740355 PMID:34764021 PMID:34782259 PMID:34814176 PMID:34860163 PMID:34888852 PMID:34949556 PMID:34974990 PMID:34996830 PMID:35008443 PMID:35109852 PMID:35273129 PMID:35313924 PMID:35418593 PMID:35451201 PMID:35527187 PMID:35585144 PMID:35626323 PMID:35652053 PMID:35698092 PMID:35816621 PMID:35858753 PMID:35913788 PMID:35934641 PMID:35997436 PMID:36207272 PMID:36249513 PMID:36264955 PMID:36272381 PMID:36319933 PMID:36372909 PMID:36409994 PMID:36437957 PMID:36458240 PMID:36567205 PMID:36604502 PMID:36670555 PMID:36717774 PMID:36751320 PMID:36828084 PMID:36969284 PMID:37006619 PMID:37274793 PMID:38388235 PMID:63921865 More...
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NCBI chr21:86,154,313...86,332,436
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G |
ALPK1 |
alpha kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:60,096,755...60,233,569
Ensembl chr 7:60,202,204...60,236,743
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|
G |
ANK2 |
ankyrin 2 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519
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|
G |
AP1AR |
adaptor related protein complex 1 associated regulatory protein |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:60,029,576...60,069,199
Ensembl chr 7:60,052,140...60,071,815
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G |
FAM241A |
family with sequence similarity 241 member A |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:59,953,872...59,983,789
Ensembl chr 7:59,953,976...59,984,360
|
|
G |
LARP7 |
La ribonucleoprotein 7, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080
|
|
G |
NEUROG2 |
neurogenin 2 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:60,296,442...60,299,093
Ensembl chr 7:60,297,586...60,298,404
|
|
G |
PITX2 |
paired like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
OMIM ClinVar |
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31185933 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
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NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318
|
|
G |
PRDM5 |
PR/SET domain 5 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
|
NCBI chr 7:67,985,387...68,207,113
Ensembl chr 7:67,987,359...68,206,893
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|
G |
TIFA |
TRAF interacting protein with forkhead associated domain |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:60,074,764...60,085,029
Ensembl chr 7:60,076,999...60,077,556
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|
G |
ZGRF1 |
zinc finger GRF-type containing 1 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:60,322,709...60,407,026
Ensembl chr 7:60,322,750...60,403,124
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|
|
G |
ALB |
albumin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:27289041 |
|
NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407
|
|
G |
BCL2 |
BCL2 apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20610805 |
|
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
|
|
G |
BRDT |
bromodomain testis associated |
susceptibility |
ISO |
DNA:SNP: :rs3088232(human) protein:decreased expression:testis: |
RGD |
PMID:22016351 PMID:22035730 |
RGD:9586359 RGD:9586360 |
NCBI chr20:41,229,493...41,293,899
Ensembl chr20:41,229,643...41,280,341
|
|
G |
BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
|
RGD |
PMID:25934999 |
RGD:11085488 |
NCBI chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622
|
|
G |
CFTR |
CF transmembrane conductance regulator |
|
ISO |
ClinVar Annotator: match by term: Obstructive azoospermia |
ClinVar |
PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1381146 PMID:1381723 PMID:1384321 PMID:1384326 PMID:1536179 PMID:1673094 PMID:1695717 PMID:1715308 PMID:1723032 PMID:1756602 PMID:1937486 PMID:1977306 PMID:1997384 PMID:2210767 PMID:2220803 PMID:2233932 PMID:2236053 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2475911 PMID:2570460 PMID:7506096 PMID:7508183 PMID:7508414 PMID:7509564 PMID:7509683 PMID:7512860 PMID:7517267 PMID:7522329 PMID:7524913 PMID:7529319 PMID:7533604 PMID:7537148 PMID:7539342 PMID:7540133 PMID:7544320 PMID:7544788 PMID:7560099 PMID:7573058 PMID:7586569 PMID:7599637 PMID:7680769 PMID:7682884 PMID:7683628 PMID:7684641 PMID:7684646 PMID:7686336 PMID:7689013 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7739684 PMID:7789957 PMID:8092189 PMID:8421472 PMID:8556303 PMID:8605891 PMID:8659542 PMID:8662892 PMID:8698344 PMID:8702904 PMID:8740923 PMID:8825927 PMID:8844211 PMID:8886242 PMID:8956039 PMID:8968585 PMID:9108869 PMID:9135274 PMID:9235853 PMID:9259194 PMID:9259197 PMID:9272157 PMID:9272738 PMID:9435322 PMID:9439669 PMID:9459534 PMID:9493456 PMID:9536098 PMID:9550361 PMID:9557894 PMID:9618063 PMID:9725922 PMID:9788722 PMID:9804160 PMID:9921909 PMID:9950763 PMID:10103316 PMID:10341008 PMID:10425036 PMID:10556281 PMID:10571949 PMID:10601093 PMID:10653141 PMID:10668931 PMID:10746558 PMID:10782933 PMID:10801389 PMID:10812063 PMID:10869121 PMID:10875853 PMID:10909845 PMID:10923036 PMID:10950058 PMID:10963013 PMID:11069835 PMID:11168024 PMID:11180668 PMID:11186891 PMID:11242048 PMID:11280952 PMID:11303517 PMID:11354633 PMID:11484207 PMID:11491164 PMID:11504857 PMID:11547256 PMID:11729110 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11788090 PMID:11883825 PMID:11924117 PMID:12007216 PMID:12014388 PMID:12124706 PMID:12133923 PMID:12167682 PMID:12400067 PMID:12767731 PMID:12955726 PMID:14618962 PMID:14685937 PMID:14963811 PMID:14993601 PMID:15070876 PMID:15097853 PMID:15141088 PMID:15246977 PMID:15365999 PMID:15367919 PMID:15371902 PMID:15482777 PMID:15486385 PMID:15536480 PMID:15618592 PMID:15619635 PMID:15640323 PMID:15727251 PMID:15775704 PMID:15857421 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15952991 PMID:15987793 PMID:16020494 PMID:16049310 PMID:16075239 PMID:16126774 PMID:16134171 PMID:16189704 PMID:16263954 PMID:16266832 PMID:16283887 PMID:16429425 PMID:16436643 PMID:16478680 PMID:16481891 PMID:16484308 PMID:16778595 PMID:16801189 PMID:16840743 PMID:17003641 PMID:17015492 PMID:17035430 PMID:17048214 PMID:17175965 PMID:17206681 PMID:17314234 PMID:17329263 PMID:17407485 PMID:17413420 PMID:17489851 PMID:17572159 PMID:17576681 PMID:17594397 PMID:17594398 PMID:17617039 PMID:17627383 PMID:17662673 PMID:17681820 PMID:17719933 PMID:18078365 PMID:18178635 PMID:18180206 PMID:18234567 PMID:18301294 PMID:18394117 PMID:18456578 PMID:18467194 PMID:18501000 PMID:18507830 PMID:18567645 PMID:18685558 PMID:18687795 PMID:18778819 PMID:18796364 PMID:18951463 PMID:19014055 PMID:19092437 PMID:19092444 PMID:19176844 PMID:19202204 PMID:19212293 PMID:19227414 PMID:19318035 PMID:19406970 PMID:19459534 PMID:19707853 PMID:19812525 PMID:19833837 PMID:19837664 PMID:19843100 PMID:19878303 PMID:19880712 PMID:19885835 PMID:19897426 PMID:19925455 PMID:20021716 PMID:20059485 PMID:20116881 PMID:20301295 PMID:20301428 PMID:20460946 PMID:20580320 PMID:20595578 PMID:20619026 PMID:20628052 PMID:20667826 PMID:20687163 PMID:20691141 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20717170 PMID:20797923 PMID:20837875 PMID:20849526 PMID:20923678 PMID:20977904 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21198395 PMID:21228398 PMID:21296036 PMID:21411740 PMID:21416780 PMID:21486785 PMID:21507732 PMID:21520337 PMID:21538969 PMID:21594800 PMID:21658649 PMID:21679131 PMID:21804385 PMID:21907281 PMID:21965669 PMID:21976147 PMID:21983488 PMID:22020151 PMID:22156145 PMID:22310382 PMID:22332135 PMID:22366207 PMID:22369017 PMID:22390181 PMID:22427236 PMID:22449949 PMID:22569626 PMID:22572128 PMID:22591852 PMID:22658665 PMID:22664493 PMID:22680785 PMID:22842702 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22999299 PMID:23067305 PMID:23082198 PMID:23104983 PMID:23168765 PMID:23361109 PMID:23378603 PMID:23379606 PMID:23381846 PMID:23420618 PMID:23436935 PMID:23613805 PMID:23656801 PMID:23716676 PMID:23721890 PMID:23751316 PMID:23781395 PMID:23810505 PMID:23846440 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23907436 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24082139 PMID:24106596 PMID:24375076 PMID:24418186 PMID:24419263 PMID:24433235 PMID:24435787 PMID:24440181 PMID:24451227 PMID:24559724 PMID:24586523 PMID:24631642 PMID:24696795 PMID:24727426 PMID:24958810 PMID:24973281 PMID:25033378 PMID:25042876 PMID:25087612 PMID:25148434 PMID:25251442 PMID:25287046 PMID:25304080 PMID:25330774 PMID:25583415 PMID:25608981 PMID:25636364 PMID:25697321 PMID:25698453 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25763566 PMID:25797027 PMID:25799511 PMID:25824995 PMID:25826586 PMID:25910067 PMID:25981758 PMID:26006199 PMID:26014425 PMID:26070913 PMID:26095523 PMID:26149808 PMID:26277102 PMID:26324139 PMID:26467025 PMID:26526220 PMID:26538069 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26648081 PMID:26708955 PMID:26755536 PMID:26800689 PMID:26846474 PMID:26900683 PMID:26911355 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27086061 PMID:27171515 PMID:27209008 PMID:27214204 PMID:27298017 PMID:27334259 PMID:27364092 PMID:27447098 PMID:27469177 PMID:27577878 PMID:27659740 PMID:27660821 PMID:27673710 PMID:27738188 PMID:27805836 PMID:27898234 PMID:28129809 PMID:28325531 PMID:28419121 PMID:28456595 PMID:28492530 PMID:28492532 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28617084 PMID:28655774 PMID:28736296 PMID:28801929 PMID:28930490 PMID:28968805 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29261177 PMID:29327948 PMID:29431110 PMID:29451946 PMID:29504914 PMID:29589582 PMID:29614238 PMID:29668297 PMID:29805046 PMID:29936070 PMID:29944384 PMID:30030066 PMID:30046002 PMID:30089726 PMID:30279124 PMID:30487145 PMID:30561903 PMID:30600599 PMID:30602999 PMID:30609409 PMID:30888834 PMID:30930780 PMID:30938940 PMID:31019283 PMID:31028937 PMID:31036917 PMID:31126253 PMID:31130284 PMID:31187952 PMID:31199594 PMID:31213628 PMID:31310009 PMID:31447099 PMID:31523618 PMID:31589614 PMID:31655510 PMID:31776420 PMID:31788424 PMID:31808782 PMID:31980526 PMID:32414100 PMID:32429104 PMID:32761997 PMID:32935393 PMID:33020115 PMID:33083013 PMID:33118704 PMID:33144682 PMID:33270637 PMID:33365035 PMID:33374015 PMID:33572515 PMID:33574797 PMID:33713579 PMID:33972190 PMID:34190021 PMID:34196078 PMID:34405919 PMID:34426522 PMID:34782259 PMID:34996830 PMID:35690514 PMID:36272381 More...
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NCBI chr21:86,154,313...86,332,436
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G |
CUNH14orf39 |
chromosome unknown C14orf39 homolog |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
PMID:33508233 |
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NCBI chr24:37,596,061...37,707,136
Ensembl chr24:37,626,089...37,676,361
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G |
DDX25 |
DEAD-box helicase 25 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr 1:117,035,171...117,053,726
Ensembl chr 1:117,035,310...117,053,494
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G |
DMC1 |
DNA meiotic recombinase 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr19:21,179,495...21,230,078
Ensembl chr19:21,180,194...21,228,120
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G |
EPAS1 |
endothelial PAS domain protein 1 |
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ISO |
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RGD |
PMID:14608355 |
RGD:734934 |
NCBI chr14:60,823,110...60,912,804
Ensembl chr14:60,822,815...60,912,785
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G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
susceptibility |
ISO |
DNA:snp:3' utr:c.8092C>A (human) |
RGD |
PMID:18616887 |
RGD:13207429 |
NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967
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G |
FAHD1 |
fumarylacetoacetate hydrolase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr 5:1,731,150...1,732,086
Ensembl chr 5:1,731,239...1,731,913
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G |
FANCM |
FA complementation group M |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 PMID:24003026 PMID:25741868 PMID:26130695 PMID:26467025 PMID:28492532 PMID:28591191 PMID:28702895 PMID:28837162 PMID:29287190 PMID:30075111 PMID:30426508 PMID:30927251 PMID:31700994 PMID:31991861 PMID:32235514 PMID:33036707 PMID:33118316 PMID:33471991 PMID:34117267 More...
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NCBI chr24:22,255,750...22,327,191
Ensembl chr24:22,256,236...22,329,609
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G |
GCNA |
germ cell nuclear acidic peptidase |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
PMID:35172124 |
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NCBI chr X:61,395,585...61,428,773
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G |
GOPC |
golgi associated PDZ and coiled-coil motif containing |
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ISO |
OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 |
MouseDO |
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NCBI chr13:56,229,780...56,270,829
Ensembl chr13:56,229,810...56,272,830
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G |
HENMT1 |
HEN methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr20:24,920,224...24,936,429
Ensembl chr20:24,921,611...24,936,419
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G |
HSD17B10 |
hydroxysteroid 17-beta dehydrogenase 10 |
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ISO |
mRNA:increased expression:testis |
RGD |
PMID:9851691 |
RGD:13792783 |
NCBI chr X:49,568,206...49,571,356
Ensembl chr X:49,567,267...49,571,292
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G |
KASH5 |
KASH domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr 6:42,561,606...42,599,442
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G |
LOC103224451 |
helicase for meiosis 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr20:41,837,289...41,957,302
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G |
MCM8 |
minichromosome maintenance 8 homologous recombination repair factor |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr 2:32,137,983...32,181,187
Ensembl chr 2:32,138,173...32,181,179
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G |
MCMDC2 |
minichromosome maintenance domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr 8:62,742,176...62,790,994
Ensembl chr 8:62,745,855...62,790,143
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G |
MEIOB |
meiosis specific with OB-fold |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr 5:1,738,250...1,779,412
Ensembl chr 5:1,738,275...1,773,727
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G |
MOV10L1 |
Mov10 like RNA helicase 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr19:32,586,652...32,653,563
Ensembl chr19:32,587,008...32,653,886
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G |
MSH5 |
mutS homolog 5 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr17:40,260,979...40,283,872
Ensembl chr17:40,261,125...40,282,511
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G |
PDHA2 |
pyruvate dehydrogenase E1 subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
PMID:29581481 PMID:35172124 |
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NCBI chr 7:44,056,991...44,058,705
Ensembl chr 7:44,057,352...44,058,518
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G |
REC8 |
REC8 meiotic recombination protein |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr24:1,157,135...1,165,927
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G |
SYCP3 |
synaptonemal complex protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 |
CTD MouseDO |
PMID:14643120 |
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NCBI chr11:96,980,937...96,992,225
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G |
TDRD9 |
tudor domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr24:81,864,846...81,992,674
Ensembl chr24:81,866,235...81,992,093
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G |
TDRKH |
tudor and KH domain containing |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr20:11,895,882...11,916,981
Ensembl chr20:11,896,380...11,916,031
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G |
TERB1 |
telomere repeat binding bouquet formation protein 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chr 5:52,451,929...52,502,628
Ensembl chr 5:52,452,079...52,500,948
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G |
CLDN2 |
claudin 2 |
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ISO |
ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis |
OMIM ClinVar |
PMID:31320686 |
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NCBI chr X:94,752,552...94,762,247
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G |
MBL2 |
mannose binding lectin 2 |
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ISO |
DNA:SNP:cds: |
RGD |
PMID:17470593 |
RGD:8693700 |
NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
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G |
FOXL2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:21325395 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
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NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348
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G |
BIRC2 |
baculoviral IAP repeat containing 2 |
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ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 1:93,721,449...93,746,638
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G |
BIRC3 |
baculoviral IAP repeat containing 3 |
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ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 1:93,692,239...93,711,905
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G |
CASQ2 |
calsequestrin 2 |
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ISO |
ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 |
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NCBI chr20:17,937,089...18,008,433
Ensembl chr20:17,937,524...18,008,786
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G |
CDX2 |
caudal type homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Sirenomelia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:7,080,142...7,088,010
Ensembl chr 3:7,078,503...7,087,285
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G |
PCSK5 |
proprotein convertase subtilisin/kexin type 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18519639 |
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NCBI chr12:86,907,173...87,367,935
Ensembl chr12:87,042,557...87,367,033
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G |
RYR1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of sacrum |
ClinVar |
PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16244001 PMID:16835904 PMID:16917943 PMID:17081152 PMID:18505122 PMID:19648156 PMID:19919814 PMID:21118704 PMID:21514828 PMID:22696611 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25268394 PMID:25558065 PMID:25735680 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 PMID:30236257 PMID:31206373 PMID:31559918 More...
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NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788
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G |
VANGL1 |
VANGL planar cell polarity protein 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele |
ClinVar OMIM |
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 PMID:24407469 PMID:24452931 PMID:24838524 PMID:25068569 PMID:25208524 PMID:25741868 PMID:26196381 PMID:28492532 More...
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G |
ZBTB16 |
zinc finger and BTB domain containing 16 |
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ISO |
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RGD |
PMID:27727328 |
RGD:40924666 |
NCBI chr 1:105,446,067...105,648,771
Ensembl chr 1:105,449,994...105,643,344
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G |
SPINK1 |
serine peptidase inhibitor Kazal type 1 |
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ISO |
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RGD |
PMID:2258083 |
RGD:2300391 |
NCBI chr23:50,365,686...50,373,300
Ensembl chr23:50,365,269...50,372,814
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G |
TFF1 |
trefoil factor 1 |
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ISO |
mRNA, protein:increased expression:uterine cervix |
RGD |
PMID:10727981 |
RGD:2298570 |
NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795
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G |
TFRC |
transferrin receptor |
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ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:9739406 |
RGD:2292022 |
NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584
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G |
TP53 |
tumor protein p53 |
disease_progression |
ISO |
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RGD |
PMID:17354237 |
RGD:2298527 |
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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G |
ANG |
angiogenin |
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ISO |
protein:increased expression:serum |
RGD |
PMID:11299848 |
RGD:2325708 |
NCBI chr29:21,215,985...21,226,927
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G |
APEX1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
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ISO |
DNA:polymorphism: :p.D148E (human) |
RGD |
PMID:18503157 PMID:19292061 |
RGD:2315657 RGD:2315662 |
NCBI chr29:20,978,878...20,981,393
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G |
API5 |
apoptosis inhibitor 5 |
disease_progression |
ISO |
mRNA:increased expression |
RGD |
PMID:10780674 |
RGD:1643340 |
NCBI chr 1:22,029,723...22,064,553
Ensembl chr 1:22,034,317...22,064,541
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G |
BCL2L1 |
BCL2 like 1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:17311011 |
RGD:1643476 |
NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470
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|
G |
BIRC2 |
baculoviral IAP repeat containing 2 |
|
ISO |
mRNA:decreased expression:uterine cervix |
RGD |
PMID:16504151 |
RGD:1643527 |
NCBI chr 1:93,721,449...93,746,638
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G |
BRCA1 |
BRCA1 DNA repair associated |
disease_progression |
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:12773202 |
RGD:2298941 |
NCBI chr16:63,162,827...63,243,928
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G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Cervical cancer |
ClinVar |
PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 PMID:31214711 PMID:32566746 More...
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NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587
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G |
BSG |
basigin (Ok blood group) |
disease_progression |
ISO |
|
RGD |
PMID:18223224 |
RGD:2296028 |
NCBI chr 6:309,579...320,209
Ensembl chr 6:309,506...321,785
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G |
CASP3 |
caspase 3 |
|
ISO |
|
RGD |
PMID:18177927 |
RGD:2298948 |
NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899
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G |
CCNB1 |
cyclin B1 |
|
ISO |
mRNA, protein:increased expression:uterine cervix |
RGD |
PMID:16614707 |
RGD:2315938 |
NCBI chr 4:65,265,798...65,276,465
Ensembl chr 4:65,265,844...65,277,085
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G |
CD55 |
CD55 molecule (Cromer blood group) |
|
ISO |
|
RGD |
PMID:9358772 |
RGD:2293549 |
NCBI chr25:22,055,138...22,092,472
Ensembl chr25:22,073,629...22,092,173
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G |
CDC25A |
cell division cycle 25A |
|
ISO |
|
RGD |
PMID:18299147 |
RGD:2296067 |
NCBI chr22:9,534,114...9,564,927
Ensembl chr22:9,534,053...9,564,741
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G |
CDC25C |
cell division cycle 25C |
|
ISO |
|
RGD |
PMID:15289842 |
RGD:4105450 |
NCBI chr23:40,960,154...41,013,016
Ensembl chr23:40,960,572...41,006,984
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G |
CDH13 |
cadherin 13 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:17548682 |
RGD:2293543 |
NCBI chr 5:68,048,655...69,213,102
Ensembl chr 5:68,451,894...69,211,534
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G |
CDK1 |
cyclin dependent kinase 1 |
|
ISO |
|
RGD |
PMID:18299147 |
RGD:2296067 |
NCBI chr 9:70,475,736...70,492,947
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G |
EBAG9 |
estrogen receptor binding site associated antigen 9 |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:16112176 |
RGD:2289851 |
NCBI chr 8:104,240,197...104,266,768
Ensembl chr 8:104,251,418...104,264,703
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|
G |
ERBB4 |
erb-b2 receptor tyrosine kinase 4 |
|
ISO |
protein:increased expression: uterine cervix, cytoplasm |
RGD |
PMID:28042953 |
RGD:126790468 |
NCBI chr10:97,099,090...98,281,697
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G |
FANCA |
FA complementation group A |
no_association |
ISO |
DNA:SNP: :rs11649196 (human) DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human) |
RGD |
PMID:19012493 PMID:21543111 |
RGD:11344886 RGD:11344901 |
NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:36135330 PMID:36474027 More...
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NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
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G |
HNRNPC |
heterogeneous nuclear ribonucleoprotein C |
|
ISO |
protein:increased expression:cervical epithelium (human) |
RGD |
PMID:19319956 |
RGD:10054394 |
NCBI chr29:21,677,871...21,737,607
Ensembl chr29:21,678,559...21,731,430
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G |
HOXB13 |
homeobox B13 |
|
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:16803519 |
RGD:2314728 |
NCBI chr16:69,137,561...69,141,615
Ensembl chr16:69,137,585...69,139,382
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|
G |
HSPA8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
Protein: increased expression |
RGD |
PMID:21137014 |
RGD:6218976 |
NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562
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G |
IL10 |
interleukin 10 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:9541628 |
RGD:2317658 |
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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G |
IL1B |
interleukin 1 beta |
susceptibility |
ISO |
associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) |
RGD |
PMID:25893807 |
RGD:36174015 |
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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G |
KDM3A |
lysine demethylase 3A |
severity |
ISO |
human gene in a mouse model |
RGD |
PMID:23492365 |
RGD:9590219 |
NCBI chr14:20,668,215...20,721,854
Ensembl chr14:20,668,821...20,720,759
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|
G |
KMT2A |
lysine methyltransferase 2A |
|
ISO |
human gene in a mouse model |
RGD |
PMID:22926525 |
RGD:9588221 |
NCBI chr 1:109,819,748...109,912,763
Ensembl chr 1:109,853,758...109,908,113
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|
G |
KMT2E |
lysine methyltransferase 2E (inactive) |
|
ISO |
human gene in a mouse model |
RGD |
PMID:25172963 |
RGD:9588553 |
NCBI chr21:73,930,957...74,030,434
Ensembl chr21:73,930,932...74,029,673
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|
G |
LOC103224275 |
glutathione S-transferase Mu 1 |
susceptibility |
ISO |
|
RGD |
PMID:18177825 |
RGD:2293825 |
NCBI chr20:23,854,969...23,861,634
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G |
MACC1 |
MET transcriptional regulator MACC1 |
|
ISO |
mRNA:increased expression:cervical region (human) |
RGD |
PMID:33603486 |
RGD:152999025 |
NCBI chr21:38,015,409...38,091,907
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G |
MAP2K3 |
mitogen-activated protein kinase kinase 3 |
treatment |
ISO |
|
RGD |
PMID:20980434 |
RGD:7495806 |
NCBI chr16:19,396,377...19,427,617
Ensembl chr16:19,396,452...19,427,652
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|
G |
MAP2K6 |
mitogen-activated protein kinase kinase 6 |
|
ISO |
|
RGD |
PMID:20980434 |
RGD:7495806 |
NCBI chr16:52,045,398...52,188,416
Ensembl chr16:52,057,784...52,187,997
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|
G |
MDC1 |
mediator of DNA damage checkpoint 1 |
|
ISO |
mRNA, protein:increased expression:uterine cervix (human) |
RGD |
PMID:21853275 |
RGD:9589052 |
NCBI chr17:41,735,584...41,754,618
Ensembl chr17:41,739,419...41,755,141
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G |
MED4 |
mediator complex subunit 4 |
severity |
ISO |
mRNA:decreased expression:uterine cervix (human) |
RGD |
PMID:19911042 |
RGD:12880436 |
NCBI chr 3:25,990,203...26,009,472
Ensembl chr 3:25,990,159...26,009,438
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|
G |
MHC-DPB1 |
major histocompatibility complex, class II, DP beta 1 |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DPB1*1301 (human) |
RGD |
PMID:17349874 |
RGD:150429811 |
NCBI chr17:38,996,329...39,007,097
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G |
MMP1 |
matrix metallopeptidase 1 |
disease_progression |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:14550952 |
RGD:7207024 |
NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767
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|
G |
MMP13 |
matrix metallopeptidase 13 |
|
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:17243165 |
RGD:2306082 |
NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747
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|
G |
MTHFR |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:missense mutation:cds:g.1298A>C (human) |
RGD |
PMID:27771518 |
RGD:38501051 |
NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
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|
G |
NDUFS6 |
NADH:ubiquinone oxidoreductase subunit S6 |
disease_progression |
ISO |
DNA, mRNA:amplification, increased expression:uterine cervix |
RGD |
PMID:18559093 |
RGD:2302384 |
NCBI chr 4:1,643,810...1,658,651
Ensembl chr 4:1,643,822...1,658,858
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|
G |
NRAS |
NRAS proto-oncogene, GTPase |
|
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:14984964 |
RGD:2314838 |
NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
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G |
PGM3 |
phosphoglucomutase 3 |
|
ISO |
|
RGD |
PMID:508567 |
RGD:2299870 |
NCBI chr13:7,841,724...7,871,013
Ensembl chr13:7,844,765...7,871,002
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G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
disease_progression |
ISO |
protein:decreased expression:uterine cervix (human) |
RGD |
PMID:28631565 |
RGD:13432557 |
NCBI chr13:88,856,056...90,329,379
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G |
PTK2 |
protein tyrosine kinase 2 |
disease_progression |
ISO |
|
RGD |
PMID:16638855 |
RGD:2292556 |
NCBI chr 8:134,897,511...135,246,300
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
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|
G |
PTPN6 |
protein tyrosine phosphatase non-receptor type 6 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr11:6,977,480...6,994,525
Ensembl chr11:6,984,710...6,994,545
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G |
RASSF1 |
Ras association domain family member 1 |
|
ISO |
associated with Papillomavirus Infections;DNA:hypermethylation:promoter |
RGD |
PMID:18608185 |
RGD:2299861 |
NCBI chr22:11,716,969...11,728,646
Ensembl chr22:11,716,918...11,725,027
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G |
SF3B4 |
splicing factor 3b subunit 4 |
severity |
ISO |
mRNA, protein:increased expression:cervix (human) human cells in mouse model |
RGD |
PMID:35853859 |
RGD:155882439 |
|
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G |
SMAD2 |
SMAD family member 2 |
|
ISO |
DNA, mRNA:insertion, deletion, decreased expression:uterine cervix |
RGD |
PMID:12894231 |
RGD:2299968 |
NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606
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G |
SMAD4 |
SMAD family member 4 |
|
ISO |
mRNA:decreased expression:uterine cervix |
RGD |
PMID:12894231 |
RGD:2299968 |
NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478
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G |
SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
|
ISO |
mRNA:increased expression:cervix epithelium (human) |
RGD |
PMID:27581326 |
RGD:13441596 |
NCBI chr14:68,259,509...68,404,167
Ensembl chr14:68,259,360...68,399,895
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G |
SPAG5 |
sperm associated antigen 5 |
severity |
ISO |
mRNA, protein:increased expression:cervix (human) |
RGD |
PMID:35853859 |
RGD:155882439 |
NCBI chr16:22,347,213...22,370,531
Ensembl chr16:22,346,701...22,369,915
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G |
TAP1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:SNPs: : |
RGD |
PMID:12648582 PMID:18248301 |
RGD:6482260 RGD:6482272 |
NCBI chr17:39,252,000...39,260,195
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G |
TAP2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:SNPs: : |
RGD |
PMID:12648582 PMID:18248301 |
RGD:6482260 RGD:6482272 |
NCBI chr17:39,266,870...39,277,658
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G |
TIMP4 |
TIMP metallopeptidase inhibitor 4 |
disease_progression |
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:15816637 |
RGD:2290434 |
NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600
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G |
TNF |
tumor necrosis factor |
susceptibility |
ISO |
DNA:polymorphism:promoter:-308G>A (human) |
RGD |
PMID:19823053 |
RGD:2315116 |
|
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G |
TNFRSF10A |
TNF receptor superfamily member 10a |
|
ISO |
|
RGD |
PMID:16271751 |
RGD:2290493 |
NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673
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G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Cervical cancer |
ClinVar |
PMID:1349102 PMID:1849234 PMID:8001119 PMID:8843196 PMID:9407971 PMID:12509279 PMID:12826609 PMID:15982667 PMID:16754663 PMID:19913028 PMID:20516128 PMID:20538734 PMID:22110706 PMID:25131192 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30374176 PMID:30816478 More...
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NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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G |
TP73 |
tumor protein p73 |
susceptibility |
ISO |
DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) |
RGD |
PMID:30420492 |
RGD:151347580 |
NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
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G |
XRCC1 |
X-ray repair cross complementing 1 |
|
ISO |
DNA:polymorphism: :p.R194W |
RGD |
PMID:18851872 |
RGD:2302567 |
NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
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G |
ZFHX3 |
zinc finger homeobox 3 |
|
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:11812077 |
RGD:2315697 |
NCBI chr 5:55,912,325...56,174,010
Ensembl chr 5:55,907,983...56,085,112
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|
|
G |
STK11 |
serine/threonine kinase 11 |
disease_progression |
ISO |
DNA:mutations |
RGD |
PMID:12533684 |
RGD:2291947 |
NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136
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G |
ADAR |
adenosine deaminase RNA specific |
disease_progression |
ISO |
protein:increased expression:cervix squamous epithelium (human) |
RGD |
PMID:28109322 |
RGD:125097518 |
NCBI chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329
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G |
BAX |
BCL2 associated X, apoptosis regulator |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:17694953 |
RGD:1643352 |
NCBI chr 6:42,186,028...42,193,105
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G |
BIRC2 |
baculoviral IAP repeat containing 2 |
disease_progression |
ISO |
DNA, protein:amplification, increased expression:uterine cervix, nucleus |
RGD |
PMID:12208731 |
RGD:1643529 |
NCBI chr 1:93,721,449...93,746,638
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G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
severity |
ISO |
mRNA, protein:increased expression:uterine cervix, nucleus (human) |
RGD |
PMID:24708616 |
RGD:11252104 |
NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587
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|
G |
CCL22 |
C-C motif chemokine ligand 22 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
|
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G |
CCR4 |
C-C motif chemokine receptor 4 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr15:77,435,195...77,439,164
Ensembl chr15:77,437,265...77,438,347
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G |
CD82 |
CD82 molecule |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:15642213 |
RGD:2289399 |
NCBI chr 1:20,736,216...20,793,943
Ensembl chr 1:20,735,287...20,763,160
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G |
CSF1R |
colony stimulating factor 1 receptor |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18565574 |
RGD:2299119 |
NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304
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G |
FGF7 |
fibroblast growth factor 7 |
|
ISO |
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells |
RGD |
PMID:17306351 |
RGD:2289084 |
NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
no_association |
ISO |
DNA:missense mutation:cds: p.S249G (human) |
RGD |
PMID:11605053 |
RGD:38500202 |
NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
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G |
FOS |
Fos proto-oncogene, AP-1 transcription factor subunit |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:15514944 |
RGD:2293757 |
NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514
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G |
FOSL1 |
FOS like 1, AP-1 transcription factor subunit |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:15514944 |
RGD:2293757 |
NCBI chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918
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G |
FOXP3 |
forkhead box P3 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr X:46,349,890...46,365,133
|
|
G |
PDPN |
podoplanin |
disease_progression |
ISO |
|
RGD |
PMID:16528371 |
RGD:2292237 |
NCBI chr20:118,644,060...118,679,508
Ensembl chr20:118,644,051...118,679,311
|
|
G |
SMAD3 |
SMAD family member 3 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527
|
|
G |
TIMP2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:16619570 |
RGD:2290402 |
NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471
|
|
G |
TMBIM6 |
transmembrane BAX inhibitor motif containing 6 |
disease_progression |
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:15337562 |
RGD:2291959 |
NCBI chr11:45,976,689...46,001,021
Ensembl chr11:45,976,700...46,001,457
|
|
G |
TNFRSF4 |
TNF receptor superfamily member 4 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr20:130,231,064...130,234,525
Ensembl chr20:130,231,584...130,234,313
|
|
G |
TNFSF4 |
TNF superfamily member 4 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr25:55,714,291...55,998,009
Ensembl chr25:55,974,691...55,997,374
|
|
G |
TP53 |
tumor protein p53 |
disease_progression |
ISO |
|
RGD |
PMID:17969407 |
RGD:2298526 |
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
|
|
G |
TYMP |
thymidine phosphorylase |
disease_progression |
ISO |
|
RGD |
PMID:16803522 |
RGD:2293719 |
NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
|
|
|
G |
APEX1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
|
ISO |
DNA:SNPs (human) |
RGD |
PMID:19202550 |
RGD:2315691 |
NCBI chr29:20,978,878...20,981,393
|
|
G |
BAG1 |
BAG cochaperone 1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:10047462 |
RGD:2293889 |
NCBI chr12:47,006,177...47,016,177
|
|
G |
BAK1 |
BCL2 antagonist/killer 1 |
|
ISO |
DNA:missense mutations:exon:multiple (human) |
RGD |
PMID:12771926 |
RGD:2315701 |
NCBI chr17:38,492,776...38,502,534
Ensembl chr17:38,492,858...38,501,281
|
|
G |
CCND3 |
cyclin D3 |
|
ISO |
|
RGD |
PMID:14751136 |
RGD:2316013 |
NCBI chr17:30,107,236...30,228,449
Ensembl chr17:30,221,598...30,227,452
|
|
G |
CD9 |
CD9 molecule |
disease_progression |
ISO |
|
RGD |
PMID:14695144 |
RGD:2326206 |
NCBI chr11:6,236,449...6,275,904
Ensembl chr11:6,236,494...6,275,909
|
|
G |
EFEMP2 |
EGF containing fibulin extracellular matrix protein 2 |
exacerbates |
ISO |
mRNA, protein:increased expression:cervix epithelium (human) |
RGD |
PMID:24737201 |
RGD:42722607 |
NCBI chr 1:8,384,212...8,391,501
Ensembl chr 1:8,385,020...8,390,889
|
|
G |
ERAP1 |
endoplasmic reticulum aminopeptidase 1 |
|
ISO |
DNA:SNPs (human) |
RGD |
PMID:19202550 |
RGD:2315691 |
NCBI chr 4:90,591,198...90,642,331
Ensembl chr 4:90,600,690...90,637,563
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported |
RGD |
PMID:10471491 PMID:11114733 |
RGD:2289864 RGD:2289865 |
NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
|
|
G |
LOC103224275 |
glutathione S-transferase Mu 1 |
onset |
ISO |
associated with Papillomavirus Infections;DNA:deletion:cds (human) |
RGD |
PMID:10813720 |
RGD:7495819 |
NCBI chr20:23,854,969...23,861,634
|
|
G |
MGMT |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
DNA:polymorphisms:cds:p.I143V, p.K178R (human) |
RGD |
PMID:17234722 |
RGD:2317690 |
NCBI chr 9:122,089,768...122,376,320
|
|
G |
PTGS1 |
prostaglandin-endoperoxide synthase 1 |
disease_progression |
ISO |
|
RGD |
PMID:16803521 |
RGD:2300207 |
NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315
|
|
G |
PTK2 |
protein tyrosine kinase 2 |
|
ISO |
protein:increased tyrosine phosphorylation:cervix |
RGD |
PMID:14675348 |
RGD:2292568 |
NCBI chr 8:134,897,511...135,246,300
|
|
G |
SPARC |
secreted protein acidic and cysteine rich |
|
ISO |
DNA:hypermethylation |
RGD |
PMID:16434596 |
RGD:2300022 |
NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006
|
|
G |
TAP2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:SNP: :(rs4148876)(human) |
RGD |
PMID:17366619 |
RGD:6482264 |
NCBI chr17:39,266,870...39,277,658
|
|
G |
TK1 |
thymidine kinase 1 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:11474248 |
RGD:2317243 |
NCBI chr16:70,186,103...70,200,689
Ensembl chr16:70,186,767...70,200,610
|
|
G |
TSG101 |
tumor susceptibility 101 |
|
ISO |
mRNA:alternative forms:uterine cervix:multiple mRNA:alternative form:uterine cervix |
RGD |
PMID:10505033 PMID:10600297 |
RGD:2291851 RGD:2291852 |
NCBI chr 1:46,401,889...46,451,122
Ensembl chr 1:46,402,024...46,450,916
|
|
|
G |
ADAM9 |
ADAM metallopeptidase domain 9 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:19473694 |
RGD:2325246 |
NCBI chr 8:37,017,827...37,131,462
Ensembl chr 8:37,017,545...37,131,615
|
|
G |
BCL2 |
BCL2 apoptosis regulator |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18561741 |
RGD:2298889 |
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
ISO |
DNA:deletions:exon |
RGD |
PMID:10442317 |
RGD:2298942 |
NCBI chr16:63,162,827...63,243,928
|
|
G |
CADM1 |
cell adhesion molecule 1 |
severity |
ISO |
|
RGD |
PMID:17009984 |
RGD:2289089 |
NCBI chr 1:106,539,262...106,876,397
Ensembl chr 1:106,539,136...106,606,637
|
|
G |
CCND1 |
cyclin D1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18301453 |
RGD:2293574 |
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
|
|
G |
CCNE1 |
cyclin E1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18301453 |
RGD:2293574 |
NCBI chr 6:24,879,923...24,888,985
|
|
G |
CD274 |
CD274 molecule |
severity |
ISO |
associated with Papillomavirus Infections; protein:increased expression:dendritic cell |
RGD |
PMID:23521696 |
RGD:40822817 |
NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
|
|
G |
CD46 |
CD46 molecule |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:9358772 |
RGD:2293549 |
NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878
|
|
G |
CDK4 |
cyclin dependent kinase 4 |
disease_progression |
ISO |
associated with Papillomavirus Infections;protein:increased expression:cervix epithelium |
RGD |
PMID:18301453 |
RGD:2293574 |
NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
protein:increased expression:epithelial cell: |
RGD |
PMID:9546362 |
RGD:8662446 |
NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
|
|
G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
disease_progression |
ISO |
associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium |
RGD |
PMID:18301453 |
RGD:2293574 |
NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531
|
|
G |
CSF1R |
colony stimulating factor 1 receptor |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18565574 |
RGD:2299119 |
NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304
|
|
G |
CTNNA1 |
catenin alpha 1 |
disease_progression |
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:11161853 |
RGD:2289797 |
NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190
|
|
G |
DLG1 |
discs large MAGUK scaffold protein 1 |
|
ISO |
protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis |
RGD |
PMID:15221964 |
RGD:2306812 |
NCBI chr15:89,937,900...90,214,976
Ensembl chr15:90,055,964...90,215,652
|
|
G |
FASLG |
Fas ligand |
|
ISO |
associated with Papillomavirus Infections |
RGD |
PMID:17433060 |
RGD:2290052 |
NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
|
|
G |
HDAC1 |
histone deacetylase 1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:19147762 |
RGD:2306200 |
NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556
|
|
G |
HDAC2 |
histone deacetylase 2 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:19147762 |
RGD:2306200 |
NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742
|
|
G |
HDAC6 |
histone deacetylase 6 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:19147762 |
RGD:2306200 |
NCBI chr X:45,927,625...45,951,636
Ensembl chr X:45,928,092...45,952,929
|
|
G |
IGFBP3 |
insulin like growth factor binding protein 3 |
|
ISO |
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03) protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01) |
RGD |
PMID:14675666 PMID:17709267 |
RGD:2290004 RGD:2290021 |
NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205
|
|
G |
IL1B |
interleukin 1 beta |
susceptibility |
ISO |
associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) |
RGD |
PMID:25893807 |
RGD:36174015 |
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
|
|
G |
LOC103233229 |
cadherin-1 |
|
ISO |
DNA:hypermethylation:uterine cervix |
RGD |
PMID:17894941 |
RGD:2289490 |
NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541
|
|
G |
LOC103244924 |
cyclin-G1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:16845792 |
RGD:2316022 |
NCBI chr23:65,709,759...65,716,913
Ensembl chr23:65,709,786...65,714,711
|
|
G |
MGP |
matrix Gla protein |
|
ISO |
|
RGD |
PMID:17960611 |
RGD:2293584 |
NCBI chr11:14,776,668...14,780,796
Ensembl chr11:14,776,209...14,780,947
|
|
G |
MLH1 |
mutL homolog 1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:15807307 |
RGD:2293515 |
NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:16619570 |
RGD:2290402 |
NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
|
|
G |
MSH2 |
mutS homolog 2 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:15807307 |
RGD:2293515 |
NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
|
|
G |
MTHFR |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17303386 |
|
NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
|
|
G |
PDCD1 |
programmed cell death 1 |
severity |
ISO |
associated with Papillomavirus Infections; protein:increased expression:T cell |
RGD |
PMID:23521696 |
RGD:40822817 |
NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
|
|
G |
PHB1 |
prohibitin 1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:16426920 |
RGD:2292398 |
NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754
|
|
G |
POU4F1 |
POU class 4 homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20190800 |
|
NCBI chr 3:57,667,248...57,673,071
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:17672936 |
RGD:2298701 |
NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
disease_progression |
ISO |
protein:increased expression:uterine cervix, epithelial cell |
RGD |
PMID:18565574 |
RGD:2299119 |
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
|
|
G |
RB1 |
RB transcriptional corepressor 1 |
|
ISO |
associated with Adenocarcinoma |
RGD |
PMID:18234283 |
RGD:2299896 |
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
|
|
G |
RELA |
RELA proto-oncogene, NF-kB subunit |
disease_progression |
ISO |
protein:altered localization, increased expression:nucleus, uterine cervix |
RGD |
PMID:16850495 |
RGD:2298759 |
NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
|
|
G |
SKP2 |
S-phase kinase associated protein 2 |
severity |
ISO |
associated with Papillomavirus Infections |
RGD |
PMID:19094580 |
RGD:2315036 |
NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632
|
|
G |
SRSF1 |
serine and arginine rich splicing factor 1 |
disease_progression |
ISO |
associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) |
RGD |
PMID:19718710 |
RGD:11039410 |
NCBI chr16:35,392,573...35,396,815
Ensembl chr16:35,392,873...35,394,982
|
|
G |
STAT3 |
signal transducer and activator of transcription 3 |
disease_progression |
ISO |
protein:increased serine phosphorylation:cervix epithelium protein:increased expression:nucleus |
RGD |
PMID:16005944 PMID:17110342 |
RGD:2291916 RGD:2298536 |
NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
|
|
G |
TERT |
telomerase reverse transcriptase |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:17644806 |
RGD:2291985 |
NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
|
|
G |
THRB |
thyroid hormone receptor beta |
|
ISO |
DNA:loss of heterozygosity (human) |
RGD |
PMID:11483913 |
RGD:2315099 |
NCBI chr15:68,797,410...69,161,256
Ensembl chr15:68,802,078...68,902,292
|
|
G |
TOP2A |
DNA topoisomerase II alpha |
|
ISO |
|
RGD |
PMID:19051821 |
RGD:2315126 |
NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701
|
|
G |
TP63 |
tumor protein p63 |
disease_progression |
ISO |
|
RGD |
PMID:16804722 |
RGD:2315435 |
NCBI chr15:83,861,489...84,126,675
|
|
G |
TP73 |
tumor protein p73 |
disease_progression |
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:11870517 |
RGD:2290589 |
NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
|
|
G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:19723043 |
RGD:2315456 |
NCBI chr17:28,377,959...28,394,508
|
|
G |
XIAP |
X-linked inhibitor of apoptosis |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18325467 |
RGD:2315850 |
|
|
|
G |
CCR5 |
C-C motif chemokine receptor 5 |
|
ISO |
|
RGD |
PMID:16118671 |
RGD:8549760 |
NCBI chr22:7,803,794...7,818,112
|
|
G |
CD40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:20102413 |
RGD:5132268 |
NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
|
|
G |
FOXP3 |
forkhead box P3 |
treatment |
ISO |
|
RGD |
PMID:30832593 |
RGD:38455984 |
NCBI chr X:46,349,890...46,365,133
|
|
G |
ICAM1 |
intercellular adhesion molecule 1 |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:19728926 |
RGD:4145507 |
NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263
|
|
G |
IDO1 |
indoleamine 2,3-dioxygenase 1 |
treatment |
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:30832593 PMID:31249813 |
RGD:38455984 RGD:39938856 |
NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505
|
|
G |
IFNG |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19203382 |
|
NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
|
|
G |
IL13 |
interleukin 13 |
|
ISO |
|
RGD |
PMID:21573182 |
RGD:5684365 |
NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869
|
|
G |
IL17A |
interleukin 17A |
|
ISO |
associated with Bronchial Hyprractivity; mRNA:increased expression:lung |
RGD |
PMID:19812198 PMID:20228193 |
RGD:4888528 RGD:4889101 |
NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
|
|
G |
TGFB1 |
transforming growth factor beta 1 |
treatment |
ISO |
|
RGD |
PMID:30832593 |
RGD:38455984 |
NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19203382 |
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G |
CD274 |
CD274 molecule |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
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G |
PDCD1 |
programmed cell death 1 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
severity |
ISO |
|
RGD |
PMID:29893841 |
RGD:40890270 |
NCBI chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504
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G |
AGER |
advanced glycosylation end-product specific receptor |
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ISO |
|
RGD |
PMID:22578261 |
RGD:6767308 |
NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127
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G |
IL1A |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21493953 |
|
NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
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G |
IL6 |
interleukin 6 |
|
ISO |
protein:increased expression:plasma protein:increased expression: cervicovaginal fluid : associated with Premature Birth;protein:increased expression:tracheal aspirate fluid: |
RGD |
PMID:15547537 PMID:25011638 PMID:25687566 |
RGD:12791291 RGD:12792243 RGD:5128667 |
NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
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G |
LTA |
lymphotoxin alpha |
severity |
ISO |
associated with Premature Birth;DNA:SNP:promoter:250G>A (human) |
RGD |
PMID:15128916 |
RGD:12904055 |
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|
G |
MBL2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.G54D(human) |
RGD |
PMID:15723707 |
RGD:12910932 |
NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
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G |
MMP9 |
matrix metallopeptidase 9 |
severity |
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:12712078 |
RGD:13204828 |
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
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G |
TGFB1 |
transforming growth factor beta 1 |
severity |
ISO |
protein:increased expression:amniotic fluid |
RGD |
PMID:19332995 |
RGD:4145137 |
NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
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G |
TNF |
tumor necrosis factor |
severity no_association |
ISO |
associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human) associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human) |
RGD |
PMID:15128916 |
RGD:12904055 |
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G |
TREM1 |
triggering receptor expressed on myeloid cells 1 |
|
ISO |
associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: |
RGD |
PMID:19591072 |
RGD:127229904 |
NCBI chr17:30,873,647...30,885,292
Ensembl chr17:30,873,666...30,886,967
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G |
FGF8 |
fibroblast growth factor 8 |
|
ISO |
protein:increased expression:testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629
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|
G |
IGF2 |
insulin like growth factor 2 |
disease_progression |
ISO |
protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR |
RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388
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|
G |
INSR |
insulin receptor |
disease_progression |
ISO |
protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR |
RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592
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G |
PDGFB |
platelet derived growth factor subunit B |
|
ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395
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G |
PDGFRB |
platelet derived growth factor receptor beta |
|
ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234
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G |
TIMP3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
DNA, protein:hypermethylation, decreased expression:promoter, placenta |
RGD |
PMID:15507671 |
RGD:2290418 |
NCBI chr19:15,621,609...15,684,118
Ensembl chr19:15,622,431...15,680,449
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G |
ADGRG2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr X:17,428,416...17,573,497
Ensembl chr X:17,427,532...17,468,812
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G |
CFTR |
CF transmembrane conductance regulator |
|
ISO |
ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens |
ClinVar |
PMID:1381723 PMID:2344617 PMID:7506096 PMID:7539342 PMID:7573058 PMID:7684641 PMID:7684646 PMID:7691356 PMID:7739684 PMID:8530001 PMID:8556303 PMID:8662892 PMID:9435322 PMID:10103316 PMID:10556281 PMID:10668931 PMID:10762539 PMID:10923036 PMID:11069835 PMID:11101688 PMID:11354633 PMID:11491164 PMID:11729110 PMID:12167682 PMID:12815607 PMID:12955726 PMID:14685937 PMID:14993601 PMID:15070876 PMID:15371902 PMID:15905293 PMID:16020494 PMID:16189704 PMID:16263954 PMID:16778595 PMID:16840743 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17489851 PMID:18456578 PMID:18507830 PMID:18567645 PMID:18685558 PMID:18951463 PMID:19092437 PMID:20301428 PMID:20460946 PMID:20667826 PMID:20691141 PMID:20837875 PMID:20880762 PMID:21228398 PMID:21520337 PMID:21658649 PMID:22842702 PMID:22992668 PMID:23810505 PMID:23891399 PMID:23974870 PMID:24033266 PMID:25087612 PMID:25251442 PMID:25741868 PMID:26014425 PMID:26467025 PMID:26708955 PMID:27171515 PMID:27447098 PMID:27469177 PMID:28492532 PMID:28603918 PMID:28800122 PMID:29318594 PMID:30022950 PMID:30873022 PMID:31036917 PMID:31268981 PMID:31328366 PMID:32628927 PMID:32630527 PMID:32934006 PMID:33374015 PMID:34196078 More...
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NCBI chr21:86,154,313...86,332,436
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G |
AGTR2 |
angiotensin II receptor type 2 |
|
ISO |
|
RGD |
PMID:22113494 |
RGD:6903875 |
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G |
ATP7A |
ATPase copper transporting alpha |
|
ISO |
mRNA, protein:decreased expression:diaphragm (rat) |
RGD |
PMID:25319798 |
RGD:11341670 |
NCBI chr X:66,843,519...66,985,655
Ensembl chr X:66,843,558...66,985,709
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G |
BMP4 |
bone morphogenetic protein 4 |
|
ISO |
mRNA:decreased expression:heart: |
RGD |
PMID:18280291 |
RGD:9068407 |
NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225
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G |
CBL |
Cbl proto-oncogene |
|
ISO |
mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: |
RGD |
PMID:23143077 |
RGD:11038813 |
NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481
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G |
CCL2 |
C-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30418988 |
|
NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
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G |
CCN2 |
cellular communication network factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20939759 PMID:21258935 |
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NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651
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G |
DES |
desmin |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17325244 PMID:17626518 PMID:20474083 PMID:21842594 PMID:22215463 PMID:23143191 PMID:23168288 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:25214167 PMID:25736269 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr10:105,312,348...105,320,869
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|
G |
ELN |
elastin |
|
ISO |
mRNA,protein:increased expression:lung: |
RGD |
PMID:12194112 |
RGD:9585688 |
NCBI chr28:8,999,164...9,048,703
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|
G |
EP300 |
E1A binding protein p300 |
|
ISO |
mRNA:decreased expression:lung |
RGD |
PMID:24488106 |
RGD:9588310 |
NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979
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G |
EPO |
erythropoietin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27880037 |
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NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908
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G |
FBN1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25736269 |
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NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217
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|
G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33443296 |
|
NCBI chr27:47,752,316...47,766,771
Ensembl chr27:47,750,626...47,755,929
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G |
FOXC2 |
forkhead box C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27663689 |
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NCBI chr 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134
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G |
FOXF1 |
forkhead box F1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27663689 |
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NCBI chr 5:71,898,473...71,902,624
Ensembl chr 5:71,898,786...71,903,661
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G |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:26,545,048...26,992,346
Ensembl chr 7:26,700,869...26,954,352
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G |
FREM1 |
FRAS1 related extracellular matrix 1 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:28492532 |
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NCBI chr12:64,681,181...64,849,266
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G |
FREM2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30143558 |
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NCBI chr 3:17,121,063...17,310,149
Ensembl chr 3:17,129,126...17,300,363
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G |
GATA4 |
GATA binding protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism OMIM:142340 | OMIM:222400 | OMIM:610187 |
CTD MouseDO |
PMID:23426975 |
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NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562
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|
G |
GATA6 |
GATA binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH |
ClinVar |
PMID:22158542 PMID:24385578 PMID:25741868 |
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NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746
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G |
GLI3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
|
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NCBI chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238
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G |
HTR2A |
5-hydroxytryptamine receptor 2A |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:24888825 |
RGD:401901089 |
NCBI chr 3:24,820,029...24,884,472
Ensembl chr 3:24,820,035...24,883,432
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G |
IGF1 |
insulin like growth factor 1 |
|
ISO |
mRNA:decreased expression:heart (rat) |
RGD |
PMID:11409163 |
RGD:12904929 |
NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
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G |
IGF1R |
insulin like growth factor 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20620343 PMID:21433279 |
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NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930
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G |
IGF2 |
insulin like growth factor 2 |
treatment |
ISO |
|
RGD |
PMID:24352370 |
RGD:10402563 |
NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388
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G |
IGF2R |
insulin like growth factor 2 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20620343 PMID:21433279 |
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NCBI chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116
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G |
IGFBP3 |
insulin like growth factor binding protein 3 |
|
ISO |
|
RGD |
PMID:19844724 |
RGD:10402761 |
NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205
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G |
IGFBP5 |
insulin like growth factor binding protein 5 |
|
ISO |
|
RGD |
PMID:19844724 |
RGD:10402761 |
NCBI chr10:102,510,939...102,531,710
Ensembl chr10:102,510,897...102,531,724
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G |
INSR |
insulin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21433279 |
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NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592
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G |
KCNQ5 |
potassium voltage-gated channel subfamily Q member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28189443 |
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NCBI chr17:1,932,962...2,495,926
Ensembl chr17:1,930,803...2,128,570
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G |
KIF7 |
kinesin family member 7 |
|
ISO |
mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; OMIM:142340 | OMIM:222400 | OMIM:610187 |
RGD MouseDO |
PMID:25921351 |
RGD:11553839 |
NCBI chr29:8,172,294...8,193,775
Ensembl chr29:8,170,883...8,191,323
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G |
LCN2 |
lipocalin 2 |
|
ISO |
mRNA:decreased expression:lung protein:decreased expression:amniotic fluid |
RGD |
PMID:27592368 |
RGD:126790533 |
NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870
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G |
LOC103231480 |
myosin-7 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 PMID:22260945 PMID:23549607 PMID:23690394 PMID:24033266 PMID:25125180 PMID:25524337 PMID:25611685 PMID:25741868 PMID:25935763 PMID:27247418 PMID:27532257 PMID:27600940 PMID:28067235 PMID:28492532 PMID:28606303 PMID:30105547 PMID:30745532 PMID:32013205 More...
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NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771
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G |
LOC103239432 |
myoblast determination protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258934 |
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NCBI chr 1:47,250,927...47,254,572
Ensembl chr 1:47,251,551...47,253,284
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G |
LRP1 |
LDL receptor related protein 1 |
|
ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
|
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NCBI chr11:53,039,147...53,125,041
Ensembl chr11:53,039,364...53,125,776
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:28492532 PMID:29469822 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 More...
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NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439
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G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 PMID:32934698 More...
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NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093
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G |
MN1 |
MN1 proto-oncogene, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:25741868 PMID:31834374 |
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NCBI chr19:10,652,940...10,706,989
Ensembl chr19:10,652,939...10,706,762
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G |
MYO15A |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 |
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NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009
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G |
MYRF |
myelin regulatory factor |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:25741868 PMID:30532227 |
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NCBI chr 1:12,066,277...12,103,091
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G |
NDST1 |
N-deacetylase and N-sulfotransferase 1 |
|
ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
|
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NCBI chr23:53,109,806...53,159,880
Ensembl chr23:53,123,222...53,155,016
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G |
NOS3 |
nitric oxide synthase 3 |
|
ISO |
protein:decreased expression:pulmonary artery (rat) |
RGD |
PMID:29216632 |
RGD:13504720 |
NCBI chr21:119,174,829...119,196,840
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G |
NR2F2 |
nuclear receptor subfamily 2 group F member 2 |
|
ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
|
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NCBI chr29:14,889,526...14,901,848
Ensembl chr29:14,891,737...14,903,813
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G |
PAX3 |
paired box 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29407415 More...
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NCBI chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478
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G |
PDGFRA |
platelet derived growth factor receptor alpha |
|
ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
|
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NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422
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|
G |
PGAP3 |
post-GPI attachment to proteins phospholipase 3 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:25741868 PMID:30345601 |
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NCBI chr16:66,478,426...66,495,631
Ensembl chr16:66,478,679...66,495,929
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|
G |
PIM1 |
Pim-1 proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25812446 |
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NCBI chr17:34,968,661...34,973,920
Ensembl chr17:34,968,429...34,973,760
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PLS3 |
plastin 3 |
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ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:25741868 PMID:37751738 |
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RHOA |
ras homolog family member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25783350 |
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NCBI chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704
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ROBO4 |
roundabout guidance receptor 4 |
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ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
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NCBI chr 1:116,027,516...116,041,771
Ensembl chr 1:116,026,834...116,041,422
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SFTPB |
surfactant protein B |
treatment |
ISO |
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RGD |
PMID:11051153 |
RGD:151667435 |
NCBI chr14:21,487,424...21,497,491
Ensembl chr14:21,488,387...21,499,850
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SLC6A4 |
solute carrier family 6 member 4 |
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ISO |
protein:increased expression:lung |
RGD |
PMID:24888825 |
RGD:401901089 |
NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616
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SLIT2 |
slit guidance ligand 2 |
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ISO |
mRNA:increased expression:lung |
RGD |
PMID:19944214 |
RGD:243048459 |
NCBI chr27:29,650,589...30,020,105
Ensembl chr27:29,650,337...29,803,612
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SLIT3 |
slit guidance ligand 3 |
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ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 mRNA:increased expression:lung |
MouseDO RGD |
PMID:19944214 |
RGD:243048459 |
NCBI chr23:70,890,096...71,524,002
Ensembl chr23:70,885,737...71,106,703
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SOD1 |
superoxide dismutase 1 |
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ISO |
mRNA:decreased expression:lung |
RGD |
PMID:26534761 |
RGD:11035301 |
NCBI chr 2:60,461,219...60,472,999
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SOD2 |
superoxide dismutase 2 |
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ISO |
mRNA:decreased expression:lung |
RGD |
PMID:26534761 |
RGD:11035301 |
NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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G |
SOX7 |
SRY-box transcription factor 7 |
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ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
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NCBI chr 8:8,368,632...8,375,529
Ensembl chr 8:8,368,912...8,375,530
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STAT3 |
signal transducer and activator of transcription 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25812446 |
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NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
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TNF |
tumor necrosis factor |
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ISO |
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RGD |
PMID:10541330 |
RGD:12904053 |
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VEGFA |
vascular endothelial growth factor A |
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ISO |
protein:decreased expression:lung: |
RGD |
PMID:15879288 |
RGD:7421593 |
NCBI chr17:28,377,959...28,394,508
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WNT11 |
Wnt family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25783350 |
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NCBI chr 1:67,393,975...67,427,247
Ensembl chr 1:67,399,074...67,418,509
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WT1 |
WT1 transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism OMIM:142340 | OMIM:222400 | OMIM:610187 |
CTD MouseDO |
PMID:21072664 |
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NCBI chr 1:32,750,300...32,801,832
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ZFPM2 |
zinc finger protein, FOG family member 2 |
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ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
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NCBI chr 8:100,138,867...100,620,355
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CCL2 |
C-C motif chemokine ligand 2 |
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ISO |
ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV |
ClinVar |
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 PMID:25741868 More...
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NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
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M1AP |
meiosis 1 associated protein |
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ISO |
ClinVar Annotator: match by term: Cryptozoospermia |
ClinVar |
PMID:25741868 PMID:32673564 |
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NCBI chr14:32,630,651...32,719,884
Ensembl chr14:32,637,838...32,719,061
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SYCP2 |
synaptonemal complex protein 2 |
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ISO |
ClinVar Annotator: match by term: Cryptozoospermia |
ClinVar |
PMID:25741868 PMID:31866047 |
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NCBI chr 2:4,214,713...4,283,451
Ensembl chr 2:4,226,063...4,282,751
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TRIM71 |
tripartite motif containing 71 |
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ISO |
ClinVar Annotator: match by term: Cryptozoospermia |
ClinVar |
PMID:25741868 |
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NCBI chr15:77,319,064...77,396,036
Ensembl chr15:77,319,148...77,390,066
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CATSPER2 |
cation channel sperm associated 2 |
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ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:19344877 PMID:24033266 PMID:25741868 |
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NCBI chr26:39,300,273...39,325,846
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LOC103245735 |
stereocilin |
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ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 PMID:25741868 PMID:26467025 PMID:29425068 More...
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NCBI chr26:39,376,441...39,397,613
Ensembl chr26:39,378,318...39,401,072
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LOC103246095 |
creatine kinase U-type, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr26:39,397,797...39,401,046
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PDIA3 |
protein disulfide isomerase family A member 3 |
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ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr26:39,273,982...39,300,170
Ensembl chr26:39,272,997...39,349,966
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PPIP5K1 |
diphosphoinositol pentakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:25741868 |
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FOXO3 |
forkhead box O3 |
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ISO |
OMIM:166950 |
MouseDO |
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NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725
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AGT |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16292651 |
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NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324
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AGTR1 |
angiotensin II receptor type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16292651 |
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NCBI chr15:41,957,82 | |