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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Brca1 |
BRCA1, DNA repair associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17682004 |
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NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Chaf1a |
chromatin assembly factor 1 subunit A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17682004 |
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NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654
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Chaf1b |
chromatin assembly factor 1 subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17682004 |
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NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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Crp |
C-reactive protein |
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IEP |
protein:increased expression:serum |
RGD |
PMID:21625744 |
RGD:6482317 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Cyp26b1 |
cytochrome P450, family 26, subfamily b, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17682004 |
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NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
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Ddit4 |
DNA-damage-inducible transcript 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17682004 |
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NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105
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Dnaja1 |
DnaJ heat shock protein family (Hsp40) member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17682004 |
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NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
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Fancg |
FA complementation group G |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17682004 |
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NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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Fgfr1 |
Fibroblast growth factor receptor 1 |
treatment |
IEP |
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RGD |
PMID:14699553 |
RGD:10402103 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Gdf15 |
growth differentiation factor 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17682004 |
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NCBI chr16:18,805,312...18,807,893
Ensembl chr16:18,805,239...18,808,055
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Gss |
glutathione synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17682004 |
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NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17682004 |
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NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Ablepharon macrostomia syndrome |
OMIM ClinVar |
PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 PMID:21595001 PMID:25741868 PMID:26119818 More...
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NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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Il10 |
interleukin 10 |
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ISO |
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RGD |
PMID:26723902 |
RGD:14975265 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome |
OMIM ClinVar |
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 PMID:11929852 PMID:16114047 PMID:16724007 PMID:17041931 PMID:17431922 PMID:18603493 PMID:18626511 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:25741868 PMID:27469932 PMID:28492532 More...
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Brinp3 |
BMP/retinoic acid inducible neural specific 3 |
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ISO |
mRNA:increased expression:saliva |
RGD |
PMID:20383335 |
RGD:14398489 |
NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770
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Ccl2 |
C-C motif chemokine ligand 2 |
susceptibility |
ISO |
DNA:polymorphism,haplotype::2518A>G(human) |
RGD |
PMID:21264360 |
RGD:8661707 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2 |
C-C motif chemokine receptor 2 |
susceptibility |
ISO |
DNA:polymorphism,haplotype:cds:p.V64I(human) |
RGD |
PMID:21264360 |
RGD:8661707 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
DNA:SNP |
RGD |
PMID:15081423 |
RGD:5688299 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Crp |
C-reactive protein |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:16013223 |
RGD:9491835 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Ctsc |
cathepsin C |
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ISO |
ClinVar Annotator: match by term: Aggressive Periodontitis | ClinVar Annotator: match by term: Periodontitis, aggressive 1 |
OMIM ClinVar |
PMID:10581027 PMID:10662808 PMID:14974080 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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Gstm1 |
glutathione S-transferase mu 1 |
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ISO |
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RGD |
PMID:17524385 |
RGD:14700939 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1 |
glutathione S-transferase theta 1 |
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ISO |
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RGD |
PMID:17524385 |
RGD:14700939 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Il10 |
interleukin 10 |
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ISO |
DNA:SNP:promoter:-592C>A (rs1800872) (human) protien:decreased expression:plasma |
RGD |
PMID:28662328 PMID:28868949 |
RGD:14975139, RGD:14975264 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1r2 |
interleukin 1 receptor type 2 |
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ISO |
associated with Periodontitis; DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human) |
RGD |
PMID:18315432 PMID:24818754 |
RGD:8662884, RGD:8662885 |
NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
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Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:21730256 |
RGD:5147873 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il6 |
interleukin 6 |
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ISO |
DNA:SNP:promoter:-174G>C (human) |
RGD |
PMID:28662328 |
RGD:14975139 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Postn |
periostin |
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ISS |
OMIM:170650 | OMIM:608526 |
MouseDO |
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NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ppia |
peptidylprolyl isomerase A |
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ISO |
protein:increased expression:gingiva (human) |
RGD |
PMID:27176139 |
RGD:150429628 |
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Alpl |
alkaline phosphatase, biomineralization associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20630305 |
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NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
associated with Periodontitis; |
RGD |
PMID:21241302 |
RGD:8661687 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Il10 |
interleukin 10 |
treatment |
IEP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:26270535 |
RGD:11049527 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
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RGD |
PMID:14630900 |
RGD:10413909 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Tnf |
tumor necrosis factor |
treatment |
IEP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:26270535 |
RGD:11049527 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfsf11 |
TNF superfamily member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19249596 |
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NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
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Acp4 |
acid phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:27843125 |
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NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
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Amelx |
amelogenin, X-linked |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar RGD |
PMID:8406474 |
RGD:1300370 |
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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Arhgap6 |
Rho GTPase activating protein 6 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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Bnc2 |
basonuclin 2 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426
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Chchd2l3 |
coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 3 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 9:94,500,439...94,501,110 NCBI chr 9:94,500,629...94,501,122
Ensembl chr 9:94,500,432...94,501,128
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Dlx3 |
distal-less homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Congenital enamel hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Enam |
enamelin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta |
CTD ClinVar |
PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532 |
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NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Fam20c |
FAM20C, golgi associated secretory pathway kinase |
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ISO |
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) |
RGD |
PMID:22732358 PMID:25928877 |
RGD:11560487, RGD:11560491 |
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Fam83h |
family with sequence similarity 83, member H |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18484629 PMID:19407157 |
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NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Gpr68 |
G protein-coupled receptor 68 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:27693231 |
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NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25669657 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Psph |
phosphoserine phosphatase |
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ISO |
ClinVar Annotator: match by term: Congenital enamel hypoplasia |
ClinVar |
PMID:28492532 |
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NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
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Sp6 |
Sp6 transcription factor |
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IMP |
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RGD |
PMID:22676574 |
RGD:10047189 |
NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013
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Wdr72 |
WD repeat domain 72 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:24033266 |
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NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 |
OMIM ClinVar |
PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 PMID:22243262 PMID:23355523 PMID:23625376 PMID:25741868 PMID:26502894 PMID:28473773 PMID:28492532 PMID:28659819 More...
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NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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Wdr72 |
WD repeat domain 72 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 |
OMIM ClinVar |
PMID:19853237 PMID:20938048 PMID:25741868 PMID:30028003 |
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NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Odaph |
odontogenesis associated phosphoprotein |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 |
OMIM ClinVar |
PMID:22901946 |
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NCBI chr14:16,071,835...16,084,210
Ensembl chr14:16,073,058...16,080,129
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Slc24a4 |
solute carrier family 24 member 4 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 |
OMIM ClinVar |
PMID:23375655 PMID:24621671 |
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NCBI chr 6:121,278,746...121,419,811
Ensembl chr 6:121,280,031...121,414,949
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Lamb3 |
laminin subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A |
OMIM ClinVar |
PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9205497 PMID:9242513 PMID:9767254 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:15311214 PMID:15538630 PMID:15663509 PMID:16439963 PMID:16473856 PMID:16674655 PMID:17476356 PMID:21801158 PMID:23632796 PMID:23958762 PMID:25708563 PMID:25741868 PMID:27062385 PMID:27375110 PMID:28492532 PMID:28830826 PMID:30544381 More...
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NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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Dlx3 |
distal-less homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Enam |
enamelin |
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ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
ClinVar OMIM RGD |
PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:22414746 PMID:25741868 PMID:28334996 PMID:28492532 PMID:31478359 PMID:11487571 More...
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RGD:1598908 |
NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Enam |
enamelin |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C |
OMIM ClinVar |
PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:28492532 More...
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NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive |
ClinVar |
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NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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Wdr72 |
WD repeat domain 72 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Amelx |
amelogenin, X-linked |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth |
OMIM ClinVar |
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 More...
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NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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Arhgap6 |
Rho GTPase activating protein 6 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth |
ClinVar |
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 More...
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NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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Ambn |
ameloblastin |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F |
OMIM ClinVar |
PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 |
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NCBI chr14:19,601,761...19,614,382
Ensembl chr14:19,601,702...19,614,393
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Fam20a |
FAM20A, golgi associated secretory pathway pseudokinase |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G |
OMIM ClinVar |
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 More...
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NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G |
ClinVar |
PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 More...
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Itgb6 |
integrin subunit beta 6 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H |
OMIM ClinVar |
PMID:24305999 PMID:24319098 PMID:25741868 |
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NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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Acp4 |
acid phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J |
OMIM ClinVar |
PMID:27843125 PMID:28513613 |
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NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
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Klk4 |
kallikrein-related peptidase 4 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 |
OMIM ClinVar |
PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:28611678 |
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NCBI chr 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424
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Gpr68 |
G protein-coupled receptor 68 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 |
ClinVar OMIM |
PMID:27693231 |
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NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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Fam83h |
family with sequence similarity 83, member H |
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ISO |
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA |
OMIM ClinVar |
PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 PMID:25741868 PMID:28492532 PMID:33034243 More...
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NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Amtn |
amelotin |
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ISO |
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OMIM |
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NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181
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Relt |
RELT, TNF receptor |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c |
OMIM ClinVar |
PMID:28492532 PMID:30506946 PMID:32052416 |
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NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
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Dlx3 |
distal-less homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia DNA:missense mutations:exon:multiple CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:28492532 PMID:11159940 More...
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RGD:11568643 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Lgr5 |
leucine rich repeat containing G protein coupled receptor 5 |
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ISS |
OMIM:106280 |
MouseDO |
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NCBI chr 7:51,087,059...51,221,882
Ensembl chr 7:51,088,239...51,222,446
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Obsl1 |
obscurin like cytoskeletal adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Ankyloglossia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Tongue tie |
ClinVar |
PMID:16835904 PMID:24033266 PMID:25741868 |
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Axin2 |
axin 2 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic oligodontia |
ClinVar |
PMID:26406231 |
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NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Dkk1 |
dickkopf WNT signaling pathway inhibitor 1 |
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ISO |
DNA:SNP: :rs11001553 (human) |
RGD |
PMID:22984994 |
RGD:12738234 |
NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
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Eda |
ectodysplasin-A |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 PMID:26753551 PMID:27144394 PMID:28492532 More...
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NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Non-syndromic oligodontia |
ClinVar |
PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Gli3 |
GLI family zinc finger 3 |
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ISO |
DNA:SNP: :rs929387 (human) |
RGD |
PMID:22984994 |
RGD:12738234 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Irx5 |
iroquois homeobox 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22581230 |
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NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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Itpa |
inosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 |
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NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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Kdf1 |
keratinocyte differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
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NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19344874 PMID:25899461 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Mmp13 |
matrix metallopeptidase 13 |
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ISO |
DNA:SNP: :rs2252070 (human) |
RGD |
PMID:24351915 |
RGD:13204812 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
DNA:SNP: :rs17576 (human) |
RGD |
PMID:24351915 |
RGD:13204812 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Msx1 |
msh homeobox 1 |
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ISO |
autosomal dominant hypodontia, HYD1, OMIM:106600 CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:8696335 |
RGD:1600484 |
NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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G |
Pax9 |
paired box 9 |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:11827258 PMID:12605438 PMID:14607846 PMID:15615874 PMID:16236760 PMID:16479262 PMID:19429910 PMID:22581971 PMID:25741868 PMID:26571067 PMID:28492532 PMID:28847717 More...
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NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic oligodontia |
ClinVar |
PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
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ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Cd8a |
CD8a molecule |
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ISO |
mRNA:decreased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Foxp3 |
forkhead box P3 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Ifna1 |
interferon, alpha 1 |
treatment |
ISO |
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RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 5:103,095,767...103,098,260
Ensembl chr 5:103,097,356...103,097,925
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G |
Il10 |
interleukin 10 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il12b |
interleukin 12B |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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G |
Il2 |
interleukin 2 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il21 |
interleukin 21 |
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ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:31414711 |
RGD:127285371 |
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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G |
Il4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Klrk1 |
killer cell lectin like receptor K1 |
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ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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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 chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
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ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:69,614,744...69,622,570
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G |
Pdcd1 |
programmed cell death 1 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
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ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tlr2 |
toll-like receptor 2 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr3 |
toll-like receptor 3 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr7 |
toll-like receptor 7 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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G |
Tlr8 |
toll-like receptor 8 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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G |
Tlr9 |
toll-like receptor 9 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28166811 PMID:28492532 PMID:32499604 More...
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Hfe |
homeostatic iron regulator |
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ISO |
DNA:missense mutation: :p.H63D (human) |
RGD |
PMID:28950260 |
RGD:14746964 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
protein:increased expression:muccal mucosa: |
RGD |
PMID:20580281 |
RGD:12910477 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Il10 |
interleukin 10 |
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ISO |
DNA:SNP:promoter:-1082G>A (rs1800896) (human) |
RGD |
PMID:27266194 |
RGD:14975145 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Mthfr |
methylenetetrahydrofolate reductase |
severity |
ISO |
DNA:missense mutation:cds:677C>T (rs1801133) (human) |
RGD |
PMID:23665953 |
RGD:10449402 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
DNA:SNP:promoter:-509T>C (human) |
RGD |
PMID:27266194 |
RGD:14975145 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Fgf10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands | ClinVar Annotator: match by term: Salivary glands, absence of |
OMIM ClinVar |
PMID:15654336 PMID:16630169 PMID:17213838 PMID:25741868 PMID:28492532 |
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NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development |
OMIM ClinVar |
PMID:25741868 PMID:29432562 |
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NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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G |
Atp6v1b2 |
ATPase H+ transporting V1 subunit B2 |
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ISO |
ClinVar Annotator: match by term: DDOD SYNDROME | ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant |
OMIM ClinVar |
PMID:24913193 PMID:25741868 PMID:28396750 |
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NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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Dspp |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 DNA:missense mutations:cds:p.P17T, p.V18P (human) |
OMIM ClinVar RGD |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:11175790 More...
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RGD:12910984 |
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
Foxc1 |
forkhead box C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Hmgn2 |
high mobility group nucleosomal binding domain 2 |
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ISS |
OMIM:180500 |
MouseDO |
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NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
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G |
Pax6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 PMID:28611552 PMID:29100920 PMID:29506241 PMID:30457409 PMID:31529555 More...
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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G |
Bche |
butyrylcholinesterase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16884476 |
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NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Foxe1 |
forkhead box E1 |
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ISO |
ClinVar Annotator: match by term: Bamforth-Lazarus syndrome | ClinVar Annotator: match by term: Hypothyroidism, thyroidal, with spiky hair and cleft palate CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 PMID:21177256 PMID:25381600 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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G |
Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Barber-Say syndrome |
OMIM ClinVar |
PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 PMID:20799330 PMID:20830793 PMID:25741868 PMID:26119818 PMID:27092433 PMID:28680619 More...
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NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE |
OMIM ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
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NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 |
OMIM ClinVar |
PMID:25691407 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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G |
Med25 |
mediator complex subunit 25 |
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ISO |
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome |
OMIM ClinVar |
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 |
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NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) |
RGD |
PMID:22705826 |
RGD:8657073 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Ace |
angiotensin I converting enzyme |
susceptibility no_association |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:15961928 PMID:15045629 |
RGD:7829810, RGD:8142349 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21044750 |
RGD:8694430 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Ahr |
aryl hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25045206 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Apoa1 |
apolipoprotein A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12074830 |
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NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apob |
apolipoprotein B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12074830 |
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NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
Cat |
catalase |
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ISO |
protein:decreased activity:erythrocyte: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12074830 PMID:17206395 |
RGD:9068907 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
susceptibility |
ISO |
DNA:snp:promoter:g.-2518A>G (human) protein:increased expression:plasma (human) |
RGD |
PMID:19782713 PMID:12712358 |
RGD:8548882, RGD:8549488 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23291587 |
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NCBI chr 8:123,556,286...123,561,841
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
no_association |
ISO |
protein:increased expression:blood, T cell (human) DNA:frameshift mutation: :p.S185_T195del (rs333) (human) |
RGD |
PMID:15501397 PMID:15009175 PMID:17067435 |
RGD:4892106, RGD:8551827, RGD:8551814 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:22116092 |
RGD:8547820 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cfb |
complement factor B |
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ISO |
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RGD |
PMID:6900632 |
RGD:7411737 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Cpb2 |
carboxypeptidase B2 |
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ISO |
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RGD |
PMID:15668188 |
RGD:1598474 |
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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G |
Crp |
C-reactive protein |
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ISO |
protein:increased expression:plasma,erythrocyte: |
RGD |
PMID:12180795 |
RGD:9491757 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
DNA:SNPs: :1661A>G,49C>A(human) |
RGD |
PMID:19563524 |
RGD:7411682 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
DNA:SNPs: :4889A>G, 4887C>A (human) |
RGD |
PMID:15088300 |
RGD:8552789 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Edn1 |
endothelin 1 |
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ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:9132327 |
RGD:8661801 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Erap1 |
endoplasmic reticulum aminopeptidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23291587 |
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NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
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G |
F5 |
coagulation factor V |
no_association |
ISO |
DNA:mutation: :1691G>A (human) |
RGD |
PMID:15077257 |
RGD:7394769 |
NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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G |
Fas |
Fas cell surface death receptor |
severity |
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:9836498 |
RGD:8662438 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
DNA:SNP:exon:p.F158V (rs396991)(human) |
RGD |
PMID:19026120 |
RGD:5508432 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
mRNA:decreased expression:mononulcear cell: |
RGD |
PMID:18234118 |
RGD:7777175 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Icam1 |
intercellular adhesion molecule 1 |
susceptibility no_association |
ISO |
DNA:polymorphism: :p.K469E (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:p.R241G (human) |
CTD RGD |
PMID:8712863 PMID:12074830 PMID:12808331 PMID:11409120 PMID:10792421 |
RGD:8158115, RGD:8547575, RGD:8158123 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifng |
interferon gamma |
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ISO |
associated with Uveitis; protein:increased expression:aqueous humor: protein:increased expression:serum: |
RGD |
PMID:21334264 PMID:2154346 |
RGD:8142356, RGD:8142377 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
DNA:missense mutation:cds:1217A>T(D406V)(human) |
RGD |
PMID:20412081 |
RGD:12791269 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Il10 |
interleukin 10 |
disease_progression onset susceptibility treatment |
ISO |
DNA, protein:hypermethylation, decreased expression:promoter, serum DNA:SNP:promoter:-592A>C (rs1800872) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20622878 PMID:20622879 PMID:15980236 PMID:26654556 PMID:29719061 PMID:29294320 PMID:21506890 More...
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RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il17a |
interleukin 17A |
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ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:21455110 |
RGD:8698672 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
susceptibility no_association |
ISO |
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human) DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human) DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) |
RGD |
PMID:14727452 PMID:15234532 PMID:21532063 PMID:16273766 PMID:17055358 |
RGD:4889844, RGD:8655927, RGD:8655926, RGD:8655910, RGD:8655897 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il18r1 |
interleukin 18 receptor 1 |
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ISO |
ClinVar Annotator: match by term: Behcet disease |
ClinVar |
PMID:25741868 |
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NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
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G |
Il1b |
interleukin 1 beta |
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ISO |
protein:increased expression:serum |
RGD |
PMID:14600787 |
RGD:7401213 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
protein:increased expression:serum |
RGD |
PMID:14600787 |
RGD:7401213 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
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ISO |
DNA:polymorphism:promoter (human) |
RGD |
PMID:21640045 |
RGD:5147902 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il21r |
interleukin 21 receptor |
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ISO |
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RGD |
PMID:21724243 |
RGD:6892926 |
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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G |
Il23r |
interleukin 23 receptor |
susceptibility |
ISO |
DNA:SNP: :rs1884444(human) DNA:SNPs,haplotype::rs17375018, rs11209032(human); |
RGD |
PMID:22483685 PMID:20375120 |
RGD:8549550, RGD:8549565 |
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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G |
Il4 |
interleukin 4 |
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ISO |
DNA:polymorphisms:promoter:-33T>C (human) |
RGD |
PMID:21640045 |
RGD:5147902 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
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ISO |
protein:increased secretion:monocyte: |
RGD |
PMID:8164212 |
RGD:7829752 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Itga2 |
integrin subunit alpha 2 |
susceptibility |
ISO |
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RGD |
PMID:12412731 |
RGD:1582300 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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G |
Itgal |
integrin subunit alpha L |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8712863 |
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NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
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G |
Itgb2 |
integrin subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8712863 |
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NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Mbl2 |
mannose binding lectin 2 |
severity susceptibility |
ISO |
protein:decreased secretion:serum (human) DNA:polymorphisms:5' utr, exon:multiple (human) |
RGD |
PMID:15693089 PMID:15730518 |
RGD:1582155, RGD:1582154 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mefv |
MEFV innate immuity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Behcet disease |
ClinVar |
PMID:28814775 PMID:31411330 |
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NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Mir155 |
microRNA 155 |
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ISO |
miRNA:increased expression:peripheral blood mononuclear cell |
RGD |
PMID:30366049 PMID:27156371 |
RGD:21409751, RGD:25671481 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
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RGD |
PMID:17949555 |
RGD:8657044 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:plasma, platelets |
RGD |
PMID:22116092 PMID:17949555 |
RGD:8547820, RGD:8657044 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:15663505 |
RGD:8552650 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility no_association |
ISO |
DNA:snp, insertion:exons:p.R702W, p.L1007insC (human) ClinVar Annotator: match by term: Behcet disease DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) |
ClinVar RGD |
PMID:28492532 PMID:19748964 PMID:15515785 |
RGD:8158059, RGD:13204711 |
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Nos3 |
nitric oxide synthase 3 |
susceptibility no_association |
ISO |
DNA:snp:cds:p.E298D (human) DNA:duplication:intron:g.IVS4?-?+27 (human) DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) |
RGD |
PMID:11908569 PMID:21957880 PMID:15705632 PMID:16463158 |
RGD:7771576, RGD:7775050, RGD:7775048, RGD:7771577 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:15377545 |
RGD:8547573 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Proz |
protein Z, vitamin K-dependent plasma glycoprotein |
|
ISO |
|
RGD |
PMID:14507116 |
RGD:1580692 |
NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480
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G |
Pstpip1 |
proline-serine-threonine phosphatase-interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
no_association |
ISO |
DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) |
RGD |
PMID:17660222 PMID:22396730 |
RGD:6484733, RGD:7829745 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
RT1-A1 |
RT1 class Ia, locus A1 |
disease_progression |
ISO |
DNA:polymorphism:cds:HLA-B*15 (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:12622781 PMID:20622878 PMID:23396137 |
RGD:7364918 |
NCBI chr20:4,905,309...4,914,593
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphisms:cds:multiple (human) |
RGD |
PMID:23396137 |
RGD:7483565 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-CE13 |
RT1 class I, locus CE13 |
no_association disease_progression |
ISO |
DNA:polymorphisms:cds:HLA-B*51 (human) severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) DNA:polymorphisms:cds:HLA-B*15 (human) |
RGD |
PMID:16101830 PMID:11426025 PMID:12622781 |
RGD:7364873, RGD:7364939, RGD:7364918 |
NCBI chr20:3,314,984...3,318,037
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism: :DRB1*0802(human) |
RGD |
PMID:1358857 |
RGD:7365104 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
RT1-DMa |
RT1 class II, locus DMa |
no_association |
ISO |
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RGD |
PMID:10375868 |
RGD:1582700 |
NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
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G |
RT1-DMb |
RT1 class II, locus DMb |
no_association |
ISO |
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RGD |
PMID:10375868 |
RGD:1582700 |
NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340
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G |
RT1-M5 |
RT1 class Ib, locus M5 |
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ISO |
DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) |
RGD |
PMID:11426025 |
RGD:7364939 |
NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12074830 PMID:18341631 |
RGD:8547693 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Slc11a1 |
solute carrier family 11 member 1 |
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ISO |
DNA:polymorphism:intron (human) |
RGD |
PMID:18998137 |
RGD:5684936 |
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
protein:increased activity:serum (human) |
RGD |
PMID:12458889 |
RGD:1580846 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Stat3 |
signal transducer and activator of transcription 3 |
no_association |
ISO |
DNA:SNP: :rs2293152 (human) DNA:SNP: :rs744166, rs2293152 (human) |
RGD |
PMID:22205606 PMID:23127549 |
RGD:6483021, RGD:8694309 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Stat4 |
signal transducer and activator of transcription 4 |
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ISO |
DNA:SNP: :rs7574865 (human) DNA:SNPs: :rs897200, rs7572482, rs7574070 (human) |
RGD |
PMID:20438790 PMID:23001997 |
RGD:8661713, RGD:8661718 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
DNA:polymorphism:promoter:exon (human) |
RGD |
PMID:21640045 |
RGD:5147902 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tlr2 |
toll-like receptor 2 |
no_association susceptibility |
ISO |
protein,mRNA:increased expression:peripheral blood mononuclear cell mRNA:increased expression:intestine: DNA:polymorphism: :12408G>A(human) DNA:SNPs: : rs2289318,rs3804099(human) |
RGD |
PMID:23908180 PMID:18336589 PMID:19796535 PMID:24255044 |
RGD:8552883, RGD:8552915, RGD:8552888, RGD:8552885 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr3 |
toll-like receptor 3 |
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ISO |
protein,mRNA:increased expression:peripheral blood mononuclear cell |
RGD |
PMID:23908180 |
RGD:8552883 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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G |
Tlr4 |
toll-like receptor 4 |
no_association susceptibility |
ISO |
mRNA:increased expression:mononulcear cell: mRNA:increased expression:intestine: DNA:polymorphism: :1896A>G,11196C>T(human) DNA:SNP:3'UTR: rs7037117(human) |
RGD |
PMID:18234118 PMID:18336589 PMID:19796535 PMID:18408113 |
RGD:7777175, RGD:8552915, RGD:8552888, RGD:7777176 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnf |
tumor necrosis factor |
no_association |
ISO |
DNA:SNP:promoter:-308G>A (human) DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) associated with Uveitis;protein:increased expression:aqueous humor: protein:increased expression:serum |
RGD |
PMID:20601837 PMID:12770792 PMID:15875188 PMID:12632436 PMID:21334264 PMID:14600787 More...
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RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
protein:increased expression:serum ClinVar Annotator: match by term: Behcet disease |
ClinVar RGD |
PMID:28492532 PMID:28814775 PMID:14600787 |
RGD:7401213 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Vdr |
vitamin D receptor |
no_association |
ISO |
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human) |
RGD |
PMID:21820934 PMID:21820934 |
RGD:8158077, RGD:8158077 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:serum |
RGD |
PMID:15257411 |
RGD:8655578 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Vim |
vimentin |
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ISO |
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RGD |
PMID:3780056 |
RGD:6480476 |
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
Vwf |
von Willebrand factor |
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ISO |
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RGD |
PMID:15849757 |
RGD:1580642 |
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
Ppia |
peptidylprolyl isomerase A |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:32149981 |
RGD:150429625 |
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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G |
Plekha5 |
pleckstrin homology domain containing A5 |
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ISO |
ClinVar Annotator: match by term: Bilateral cleft lip |
ClinVar |
PMID:25741868 |
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NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546
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G |
Cdh1 |
cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 |
OMIM ClinVar |
PMID:8033105 PMID:11747475 PMID:15235021 PMID:20373070 PMID:23709761 PMID:24033266 PMID:24728327 PMID:25067988 PMID:25123297 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26123647 PMID:26467025 PMID:27566442 PMID:27978560 PMID:28135145 PMID:28166811 PMID:28301459 PMID:28492532 PMID:28608266 PMID:28640387 PMID:28961279 PMID:29470806 PMID:29641532 PMID:29752822 PMID:30287823 PMID:31871109 PMID:32260281 PMID:32566746 More...
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NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Ctnnd1 |
catenin delta 1 |
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ISO |
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28301459 PMID:29805042 |
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NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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G |
Dsg3 |
desmoglein 3 |
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ISO |
ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa |
OMIM ClinVar |
PMID:30528827 |
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NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome |
OMIM ClinVar |
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 PMID:19344874 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025 PMID:30887145 More...
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Bruxism |
ClinVar |
PMID:15737703 PMID:25741868 |
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Lrp1 |
LDL receptor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Keratosis pilaris |
ClinVar |
PMID:25741868 PMID:26142438 PMID:28381441 |
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NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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G |
Mymk |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences |
OMIM ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
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NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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G |
Ric1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
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ISO |
ClinVar Annotator: match by term: Catifa syndrome |
OMIM ClinVar |
PMID:25741868 PMID:27878435 PMID:31932796 |
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NCBI chr 1:227,285,510...227,384,553
Ensembl chr 1:227,285,210...227,382,863
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G |
Eya1 |
EYA transcriptional coactivator and phosphatase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15493068 |
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NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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G |
Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
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ISO |
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome |
OMIM ClinVar |
PMID:25561519 PMID:25741868 PMID:28492532 |
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NCBI chr 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
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G |
Brinp3 |
BMP/retinoic acid inducible neural specific 3 |
susceptibility |
ISO |
DNA:SNP: :rs1935881(human) |
RGD |
PMID:25887438 |
RGD:14398485 |
NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
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RGD |
PMID:20059422 |
RGD:8661721 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
disease_progression |
ISO |
protein:increased expression:gingival crevicular fluid, gingvia |
RGD |
PMID:20151806 |
RGD:6483776 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:20059422 |
RGD:8661721 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
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ISO |
mRNA:increased expression:gingival tissues (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20731768 PMID:21382035 |
RGD:6480655 |
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
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ISO |
mRNA:increased expression:gingival tissues (human) |
RGD |
PMID:21382035 |
RGD:6480655 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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G |
Dsc1 |
desmocollin 1 |
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ISO |
mRNA:decreased expression:gingival tissues (human) |
RGD |
PMID:21382035 |
RGD:6480655 |
NCBI chr18:11,499,936...11,556,801
Ensembl chr18:11,502,003...11,528,494
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G |
Dsg1 |
desmoglein 1 |
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ISO |
mRNA:decreased expression:gingival tissues (human) |
RGD |
PMID:21382035 |
RGD:6480655 |
NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
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G |
Esr1 |
estrogen receptor 1 |
no_association |
ISO |
DNA:polymorphism |
RGD |
PMID:15324358 PMID:15324358 |
RGD:10045837, RGD:10045837 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Gstm1 |
glutathione S-transferase mu 1 |
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ISO |
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RGD |
PMID:17524385 |
RGD:14700939 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Il10 |
interleukin 10 |
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ISO |
DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) |
RGD |
PMID:31055876 |
RGD:14975127 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
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ISO |
mRNA:increased expression:gingiva |
RGD |
PMID:25808546 |
RGD:39938855 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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G |
Il33 |
interleukin 33 |
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ISO |
mRNA,protein:increased expression:gingiva |
RGD |
PMID:25808546 |
RGD:39938855 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Itgb2 |
integrin subunit beta 2 |
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ISO |
mRNA:increased expression:gingival tissues (human) |
RGD |
PMID:21382035 |
RGD:6480655 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Mir155 |
microRNA 155 |
treatment |
ISO |
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RGD |
PMID:29517812 |
RGD:21403685 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mmp1 |
matrix metallopeptidase 1 |
no_association severity |
ISO |
mRNA:increased expression:gingiva (human) DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:22401717 PMID:15312099 PMID:12622858 |
RGD:7206856, RGD:7207046, RGD:7207045 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
ISO IDA |
mRNA:increased expression:gingival tissues (human) associated with Atherosclerosis |
RGD |
PMID:21382035 PMID:24820783 |
RGD:6480655, RGD:13207324 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
IDA |
associated with Atherosclerosis |
RGD |
PMID:24820783 |
RGD:13207324 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Nes |
nestin |
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ISO |
mRNA:decreased expression:gingival tissues (human) |
RGD |
PMID:21382035 |
RGD:6480655 |
NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
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G |
Rac2 |
Rac family small GTPase 2 |
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ISO |
mRNA:increased expression:gingival tissues (human) |
RGD |
PMID:21382035 |
RGD:6480655 |
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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G |
Ripk3 |
receptor-interacting serine-threonine kinase 3 |
|
ISO |
protein:increased expression,'increased phosphorylation:gingiva (human) |
RGD |
PMID:30814594 |
RGD:127229937 |
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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G |
Tlr2 |
toll-like receptor 2 |
severity |
ISO |
protein:increased expression:gingiva: |
RGD |
PMID:21848608 |
RGD:7794852 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr3 |
toll-like receptor 3 |
severity |
ISO |
protein:increased expression:gingiva: |
RGD |
PMID:21848608 |
RGD:7794852 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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G |
Tlr4 |
toll-like receptor 4 |
severity |
ISO |
protein:increased expression:gingiva: |
RGD |
PMID:21848608 |
RGD:7794852 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr9 |
toll-like receptor 9 |
severity |
ISO |
protein:increased expression:gingiva: |
RGD |
PMID:21848608 |
RGD:7794852 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnfsf11 |
TNF superfamily member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20731768 |
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NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
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G |
Vdr |
vitamin D receptor |
susceptibility |
ISO |
DNA:SNP:exon:rs731236(human) |
RGD |
PMID:14572874 |
RGD:14402032 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20436469 |
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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G |
Adamts20 |
ADAM metallopeptidase with thrombospondin type 1 motif, 20 |
|
ISO |
Cleft lip with or without cleft palate |
OMIA |
PMID:13875838 PMID:19115787 PMID:25798845 PMID:28738009 PMID:31682628 |
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NCBI chr 7:125,396,227...125,528,020
Ensembl chr 7:125,397,734...125,527,777
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G |
Arhgap29 |
Rho GTPase activating protein 29 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate |
ClinVar |
PMID:25741868 |
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NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028
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G |
Bhmt2 |
betaine-homocysteine S-methyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475
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G |
Bmp4 |
bone morphogenetic protein 4 |
susceptibility |
ISO |
DNA:polymorphism:cds:p.V152A(human) ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant DNA:SNP: : rs17563 (p.V152A)(human) |
ClinVar RGD |
PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 PMID:25741868 PMID:28492532 PMID:18771417 PMID:23227324 More...
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RGD:13442495, RGD:13442497 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Cdh1 |
cadherin 1 |
susceptibility |
ISO |
DNA:splice-site mutation: :531+2T>A (human) ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar RGD |
PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 PMID:15831593 More...
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RGD:1599548 |
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Ctnnd1 |
catenin delta 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:25741868 PMID:29805042 |
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NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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G |
Esrp2 |
epithelial splicing regulatory protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
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NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726
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G |
Fgf1 |
fibroblast growth factor 1 |
|
ISO |
DNA:SNP: :rs34010 (human) |
RGD |
PMID:24613087 |
RGD:11567264 |
NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
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G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Fgf3 |
fibroblast growth factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
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G |
Fgf7 |
fibroblast growth factor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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G |
Fgf9 |
fibroblast growth factor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs13317 (human) |
CTD RGD |
PMID:17963255 PMID:24613087 |
RGD:11567264 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Gdf6 |
growth differentiation factor 6 |
|
ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
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G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
van der Woude syndrome, OMIM:119300 ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:17041601 PMID:18836445 PMID:20436469 PMID:28492532 PMID:12219090 |
RGD:1600214 |
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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G |
Kif7 |
kinesin family member 7 |
|
ISO |
DNA:SNPs:introns:rs4932238,rs4932240(human) |
RGD |
PMID:26602496 |
RGD:11553833 |
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Mafb |
MAF bZIP transcription factor B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20436469 |
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NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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G |
Msx1 |
msh homeobox 1 |
|
ISO |
DNA:mutations, SNPs:multiple (human) |
RGD |
PMID:12807959 |
RGD:5132609 |
NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
susceptibility no_association |
ISO |
DNA:SNP:cds:1958G>A(human) |
RGD |
PMID:25129243 PMID:18261183 |
RGD:12910961, RGD:12910962 |
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :c.677C>T(human) |
CTD RGD |
PMID:16470725 PMID:27387868 |
RGD:11565179 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mthfs |
methenyltetrahydrofolate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859337 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 |
RGD |
PMID:10932188 |
RGD:1599795 |
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Nog |
noggin |
susceptibility |
ISO |
DNA:SNP: :rs227731(human) DNA:SNP: : rs227727 (human) |
RGD |
PMID:25339627 PMID:25704602 |
RGD:12801482, RGD:11251786 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Ntn1 |
netrin 1 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate |
ClinVar |
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NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326
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G |
Plekha5 |
pleckstrin homology domain containing A5 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
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NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546
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G |
Plekha7 |
pleckstrin homology domain containing A7 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
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NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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G |
Pomt1 |
protein-O-mannosyltransferase 1 |
|
ISO |
associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon |
RGD |
PMID:18640039 |
RGD:11532685 |
NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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G |
Ptch1 |
patched 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16405370 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Sdc2 |
syndecan 2 |
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ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081
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G |
Slc19a1 |
solute carrier family 19 member 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP: :80G>A(human) |
CTD RGD |
PMID:21254359 PMID:18797703 |
RGD:11565176 |
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17576140 |
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NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
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G |
Sumo1 |
small ubiquitin-like modifier 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant |
CTD ClinVar |
PMID:16990542 |
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NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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G |
Tcn2 |
transcobalamin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16470748 |
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NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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G |
Tp63 |
tumor protein p63 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant |
CTD ClinVar |
PMID:16688749 |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Tyms |
thymidylate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Amer1 |
APC membrane recruitment protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 |
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NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
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G |
Bhmt2 |
betaine-homocysteine S-methyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475
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G |
Bnc2 |
basonuclin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19706529 |
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NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:insertion |
CTD RGD |
PMID:9787075 PMID:9787075 |
RGD:11576291 |
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Cbfb |
core-binding factor subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17022082 |
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NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10346820 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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G |
Col11a2 |
collagen type XI alpha 2 chain |
|
ISO |
DNA:SNPs, haplotypes: :multiple DNA:SNPs, haplotypes: :rs3129208 (human) |
RGD |
PMID:20672350 PMID:22112025 |
RGD:12436724, RGD:12904711 |
NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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G |
Col2a1 |
collagen type II alpha 1 chain |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP,haplotype:intron:rs1793949(human) |
CTD RGD |
PMID:15562585 PMID:20672350 |
RGD:12436724 |
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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G |
Dlg1 |
discs large MAGUK scaffold protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11238884 |
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NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689
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G |
Dnah11 |
dynein, axonemal, heavy chain 11 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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G |
Egf |
epidermal growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11399798 |
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NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
|
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G |
Fgf3 |
fibroblast growth factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
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G |
Fgf7 |
fibroblast growth factor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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G |
Fgf9 |
fibroblast growth factor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 PMID:29526646 |
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:11704759 PMID:11992261 PMID:12612583 PMID:15917206 PMID:16538226 PMID:20979190 PMID:22465605 PMID:25741868 PMID:31942422 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Flnb |
filamin B |
susceptibility |
ISO |
DNA:SNPs:: |
RGD |
PMID:20634891 |
RGD:12791026 |
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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G |
Fzd4 |
frizzled class receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
|
NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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G |
Gata6 |
GATA binding protein 6 |
|
ISO |
protein:decreased expression:secondary palatal shelf (mouse) |
RGD |
PMID:27391658 |
RGD:13208933 |
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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G |
Gdf6 |
growth differentiation factor 6 |
|
ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
|
RGD |
PMID:18816854 |
RGD:12738224 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
|
|
G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 More...
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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|
G |
Golgb1 |
golgin B1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
|
|
G |
Inpp1 |
inositol polyphosphate-1-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
|
|
NCBI chr 9:48,688,037...48,717,793
Ensembl chr 9:48,669,901...48,717,793
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
van der Woude syndrome, OMIM:119300 DNA:SNPs, haplotype: :rs9430018, rs17389541 (human) ClinVar Annotator: match by term: Cleft palate CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:12920575 PMID:17041601 PMID:25741868 PMID:12219090 PMID:20672350 |
RGD:1600214, RGD:12436724 |
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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|
G |
Kif7 |
kinesin family member 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21552264 |
|
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
|
|
G |
Mnt |
MAX network transcriptional repressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15028671 |
|
NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
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G |
Msx1 |
msh homeobox 1 |
|
ISO |
DNA:mutations, SNPs:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12163415 PMID:12701100 PMID:15301380 PMID:12807959 |
RGD:5132609 |
NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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|
G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
susceptibility |
ISO |
DNA:SNP:cds:1958 G>A (rs2236225)(human) |
RGD |
PMID:18661527 |
RGD:12914151 |
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
|
|
G |
Mthfs |
methenyltetrahydrofolate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
|
|
G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859337 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 |
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NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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G |
Myo19 |
myosin XIX |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 |
RGD |
PMID:10932188 |
RGD:1599795 |
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27694961 |
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NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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G |
Nek9 |
NIMA-related kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
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NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
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G |
Nfia |
nuclear factor I/A |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
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NCBI chr 5:112,436,655...112,781,878
Ensembl chr 5:112,436,644...112,775,885
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Pax9 |
paired box 9 |
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ISO |
|
RGD |
PMID:17097601 |
RGD:12801424 |
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18264099 |
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NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:30345601 |
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NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
|
RGD |
PMID:12975342 |
RGD:12910559 |
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Ptch1 |
patched 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16405370 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Rarg |
retinoic acid receptor, gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21807577 |
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NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
susceptibility |
ISO |
DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) |
RGD |
PMID:22490406 |
RGD:11535950 |
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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G |
Ryk |
receptor-like tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10932185 |
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NCBI chr 8:103,419,348...103,492,083
Ensembl chr 8:103,419,275...103,491,698
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G |
Satb2 |
SATB homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft palate | ClinVar Annotator: match by term: nonsyndromic cleft palate |
CTD ClinVar |
PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 PMID:28492532 PMID:29023086 PMID:32581362 More...
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NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
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G |
Sdc2 |
syndecan 2 |
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ISO |
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RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:17097601 |
RGD:12801424 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Shox2 |
short stature homeobox 2 |
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ISO |
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RGD |
PMID:16141225 |
RGD:12859081 |
NCBI chr 2:151,217,049...151,227,180
Ensembl chr 2:151,217,552...151,227,143
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G |
Sim2 |
SIM bHLH transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12203729 |
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NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
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G |
Slc19a1 |
solute carrier family 19 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:28973083 |
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17576140 |
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NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
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G |
Sumo1 |
small ubiquitin-like modifier 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16990542 |
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NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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G |
Tbx22 |
T-box transcription factor 22 |
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ISO |
cleft palate with ankyloglossia, OMIM:303400 ClinVar Annotator: match by term: Cleft palate |
ClinVar RGD |
PMID:25741868 PMID:12374769 |
RGD:724722 |
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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G |
Tenm4 |
teneurin transmembrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
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NCBI chr 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450421 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450421 |
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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G |
Tgfb3 |
transforming growth factor, beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7493022 PMID:26971374 PMID:17097601 |
RGD:12801424 |
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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G |
Tmco1 |
transmembrane and coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 |
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NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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G |
Tnfrsf13b |
TNF receptor superfamily member 13B |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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G |
Tp63 |
tumor protein p63 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11462173 |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Tyms |
thymidylate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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G |
Tbx22 |
T-box transcription factor 22 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate with ankyloglossia |
ClinVar |
PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 |
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NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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G |
Meis2 |
Meis homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25741868 PMID:27225850 PMID:28492532 PMID:30055086 PMID:30291340 More...
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NCBI chr 3:102,742,905...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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G |
Lrrc32 |
leucine rich repeat containing 32 |
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ISO |
ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:30976112 |
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NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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G |
Kdm1a |
lysine demethylase 1A |
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ISO |
ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies |
OMIM ClinVar |
PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 |
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NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISS |
OMIM:119550 |
MouseDO |
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Cleft soft palate |
ClinVar |
PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 PMID:29178448 More...
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NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISS |
OMIM:119570 |
MouseDO |
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Runx2 |
RUNX family transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only |
ClinVar |
PMID:10545612 |
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NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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G |
Lonp1 |
lon peptidase 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: CODAS syndrome |
OMIM ClinVar |
PMID:1887855 PMID:5574826 PMID:25574826 PMID:25741868 PMID:25741869 PMID:25808063 PMID:27878435 PMID:28492532 More...
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NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
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G |
Fgf3 |
fibroblast growth factor 3 |
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ISO |
ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) |
OMIM ClinVar |
PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 PMID:25741868 PMID:28492532 PMID:31336982 PMID:33187236 More...
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NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
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G |
Tubb6 |
tubulin, beta 6 class V |
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ISO |
ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction |
ClinVar OMIM |
PMID:29016863 |
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NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 More...
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Giant tongue |
ClinVar |
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9472650 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19530960 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:28950804 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29998006 PMID:30114658 PMID:30348537 PMID:30485432 PMID:30723313 PMID:30775324 PMID:30898145 PMID:31382864 PMID:31745289 More...
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NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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G |
Tubb5 |
tubulin, beta 5 class I |
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ISO |
ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 |
OMIM ClinVar |
PMID:12239728 PMID:23324645 PMID:25741868 PMID:26637975 |
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NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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G |
Mapre2 |
microtubule-associated protein, RP/EB family, member 2 |
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ISO |
ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 |
OMIM ClinVar |
PMID:19182162 PMID:21262397 PMID:26637975 |
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NCBI chr18:15,028,675...15,169,553
Ensembl chr18:15,029,041...15,168,044
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G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies |
OMIM ClinVar |
PMID:21741611 PMID:25741868 PMID:34906502 |
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NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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G |
Il1b |
interleukin 1 beta |
|
ISO |
DNA:SNP: :rs1143627C>T (human) |
RGD |
PMID:30803280 |
RGD:14975276 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
RT1-Bb |
RT1 class II, locus Bb |
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ISO |
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RGD |
PMID:29594988 |
RGD:14928324 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Cftr |
CF transmembrane conductance regulator |
|
IMP |
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RGD |
PMID:31942562 |
RGD:126928119 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Cftrem1Ang |
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang |
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IMP |
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RGD |
PMID:31942562 |
RGD:126928119 |
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G |
Cftrem2Ang |
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang |
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IMP |
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RGD |
PMID:31942562 |
RGD:126928119 |
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G |
Dnm1l |
dynamin 1-like |
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IEP |
mRNA, protein:increased expression:frontal cortex (rat) |
RGD |
PMID:23007560 |
RGD:12738230 |
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Fis1 |
fission, mitochondrial 1 |
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IEP |
mRNA, protein:increased expression:kidney (rat) |
RGD |
PMID:24958380 |
RGD:12437081 |
NCBI chr12:19,708,558...19,723,392
Ensembl chr12:19,708,558...19,723,377
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G |
Mfn1 |
mitofusin 1 |
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IEP |
mRNA, protein:decreased expression:frontal cortex (rat) |
RGD |
PMID:23007560 |
RGD:12738230 |
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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G |
Dspp |
dentin sialophosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Denticles | ClinVar Annotator: match by term: Pulpal dysplasia |
ClinVar |
PMID:12354781 PMID:18456718 PMID:25741868 PMID:26788535 PMID:28492532 |
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NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
Cd86 |
CD86 molecule |
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IEP |
mRNA:increased expression:thalamus (rat) mRNA:increased expression:periodontal ligament (rat) |
RGD |
PMID:20171363 PMID:20113783 |
RGD:4892246, RGD:4892210 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
|
IEP |
protein:increased expression:neuron: |
RGD |
PMID:17645513 |
RGD:9686147 |
NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
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G |
Hcn2 |
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 |
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IEP |
protein:increased expression:neuron: |
RGD |
PMID:17645513 |
RGD:9686147 |
NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
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G |
Hcn3 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 |
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IEP |
protein:increased expression:neuron: |
RGD |
PMID:17645513 |
RGD:9686147 |
NCBI chr 2:174,551,866...174,567,459
Ensembl chr 2:174,551,680...174,565,966
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G |
Optn |
optineurin |
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IEP |
mRNA:increased expression:dental pulp (rat) |
RGD |
PMID:16109995 |
RGD:7775038 |
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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G |
S100b |
S100 calcium binding protein B |
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IEP |
protein:increased expression:brain, astrocyte |
RGD |
PMID:20043976 |
RGD:5508788 |
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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G |
Dspp |
dentin sialophosphoprotein |
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ISO ISS |
mRNA:decreased expression:incisor, molar (mouse) ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN OMIM:125400 | OMIM:125420 |
ClinVar MouseDO RGD |
PMID:25741868 PMID:28492532 PMID:11116156 |
RGD:734904 |
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
Smoc2 |
SPARC related modular calcium binding 2 |
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ISS |
OMIM:125400 | OMIM:125420 |
MouseDO |
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NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
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G |
Ssuh2 |
ssu-2 homolog |
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ISS |
OMIM:125400 | OMIM:125420 |
MouseDO |
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NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
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G |
Smoc2 |
SPARC related modular calcium binding 2 |
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ISO |
ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth |
OMIM ClinVar |
PMID:22152679 PMID:23317772 PMID:25741868 |
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NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
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G |
Dspp |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human) ClinVar Annotator: match by term: Dentinogenesis imperfecta |
ClinVar RGD |
PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:24668929 PMID:25741868 PMID:25944380 PMID:27509835 PMID:28492532 PMID:29807018 PMID:11286811 More...
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RGD:11571615 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Dentinogenesis imperfecta |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:11317364 PMID:17078022 PMID:19344236 PMID:23227268 PMID:25944380 PMID:26788535 PMID:27510842 PMID:28492532 PMID:30152103 PMID:30886339 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Dspp |
dentin sialophosphoprotein |
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ISO |
mRNA:decreased expression:incisor, molar (mouse) ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin DNA:snp:intron:g.87612175G>A (human) |
ClinVar OMIM RGD |
PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:18456718 PMID:19131317 PMID:22392858 PMID:25741868 PMID:27993330 PMID:28492532 PMID:11116156 PMID:11175790 More...
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RGD:734904, RGD:12910984 |
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
Dspp |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human) |
OMIM ClinVar RGD |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 PMID:15690376 More...
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RGD:12911015 |
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
Satb1 |
SATB homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies |
OMIM ClinVar |
PMID:25741868 PMID:33513338 |
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NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis |
OMIM ClinVar |
PMID:15941723 PMID:16628197 PMID:16774985 PMID:16917092 PMID:20716751 PMID:20940358 PMID:21606396 PMID:22795705 PMID:22949226 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25525159 PMID:25741868 PMID:26187847 PMID:26332594 PMID:26604139 PMID:26833927 PMID:27000522 PMID:27532257 PMID:28166811 PMID:28492532 PMID:28527814 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Gordon syndrome |
OMIM ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:30285720 PMID:31680123 More...
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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G |
Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Dentoleukoencephalopathy |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 More...
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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G |
Eda |
ectodysplasin-A |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar OMIM RGD |
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26345974 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:30117778 PMID:31306530 PMID:31796081 PMID:31924237 PMID:8696334 More...
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RGD:1598881 |
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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G |
Eda2r |
ectodysplasin A2 receptor |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar |
PMID:22889853 |
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NCBI chr X:62,224,763...62,269,344
Ensembl chr X:62,228,229...62,269,268
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G |
Ccdc138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant |
ClinVar OMIM RGD |
PMID:9536098 PMID:10431241 PMID:11035039 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28492532 PMID:28981473 PMID:33205897 PMID:10431241 More...
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RGD:1598883 |
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Edaradd |
EDAR-associated death domain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
CTD ClinVar |
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 |
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant |
ClinVar |
PMID:9536098 PMID:10431241 PMID:11035039 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28492532 PMID:28981473 PMID:33205897 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Ccdc138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
OMIM ClinVar |
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:22032522 PMID:23401279 PMID:24033266 PMID:24641098 PMID:25741868 PMID:28265457 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Edaradd |
EDAR-associated death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:22032522 PMID:23401279 PMID:24033266 PMID:24641098 PMID:25741868 PMID:28265457 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Edaradd |
EDAR-associated death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
OMIM ClinVar |
PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25640679 PMID:25741868 PMID:28492532 More...
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Edaradd |
EDAR-associated death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
OMIM ClinVar |
PMID:9245989 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26991760 PMID:28492532 More...
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Kdf1 |
keratinocyte differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type |
ClinVar OMIM |
PMID:27838789 |
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NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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G |
Cst6 |
cystatin E/M |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type |
OMIM ClinVar |
PMID:25741868 PMID:30425301 |
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NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 DNA:mutation:splicing site: |
OMIM ClinVar RGD |
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:29077208 PMID:16333836 More...
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RGD:12791265 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Nfkbia |
NFKB inhibitor alpha |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
OMIM ClinVar |
PMID:14523047 PMID:15337789 PMID:17931563 PMID:18412279 PMID:23708964 PMID:23864385 PMID:23870671 PMID:24033266 PMID:25741868 PMID:26888281 PMID:27577878 PMID:28166811 PMID:28417298 PMID:28492532 PMID:29948576 More...
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NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Tp63 |
tumor protein p63 |
susceptibility |
ISO |
DNA:frameshift mutation, missense mutations: :multiple ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.Q16X (human) DNA:missense mutations:exon:p.R280C, p.R304Q (human) DNA:missense mutation:exon:p.R279H (835G>A) |
ClinVar CTD OMIM RGD |
PMID:8737655 PMID:9028452 PMID:9443880 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:17041931 PMID:17431922 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30655312 PMID:10535733 PMID:26470833 PMID:12161593 PMID:11903230 More...
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RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Csf1 |
colony stimulating factor 1 |
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IAGP |
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RGD |
PMID:12379742 |
RGD:628338 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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G |
Csf1tl |
colony stimulating factor 1; tooth less mutant |
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IAGP |
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RGD |
PMID:12379742 |
RGD:628338 |
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G |
Tp63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome DNA:missense mutation:exon:p.A346G (c.1037C>G) (human) DNA:frameshift mutation, missense mutations:exon:multiple DNA:missense mutations: :multiple DNA:missense mutation:exon:p.R280C (955C>T) (human) DNA:missense mutation:exon:p.R318H (mouse) |
CTD ClinVar RGD |
PMID:8737655 PMID:9443880 PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12939657 PMID:16691622 PMID:17041931 PMID:17431922 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:25983622 PMID:11462173 PMID:19903181 PMID:15324320 PMID:23775923 More...
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RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
OMIM ClinVar |
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 PMID:27663155 PMID:27745832 PMID:33268848 More...
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
ClinVar |
PMID:27745832 |
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NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
ClinVar |
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:27663155 PMID:27745832 More...
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
OMIM ClinVar |
PMID:25741868 PMID:27745832 PMID:28492532 |
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NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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Kcnk4 |
potassium two pore domain channel subfamily K member 4 |
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ISO |
ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30290154 |
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NCBI chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925
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Adcyap1 |
adenylate cyclase activating polypeptide 1 |
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IEP |
mRNA:increased expression:facial VII nucleus |
RGD |
PMID:19427307 |
RGD:2325258 |
NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
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Atf2 |
activating transcription factor 2 |
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IEP |
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RGD |
PMID:9813301 |
RGD:10047413 |
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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Ccr3 |
C-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:19922414 |
RGD:6892922 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Cd59 |
CD59 molecule |
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IEP |
mRNA, protein:increased expression:facial VII nucleus |
RGD |
PMID:9846834 |
RGD:1600495 |
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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Csf1 |
colony stimulating factor 1 |
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IEP |
protein:increased expression:facial VII nerve, microglial cell |
RGD |
PMID:20831658 |
RGD:5131509 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Ctss |
cathepsin S |
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ISO |
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RGD |
PMID:17539023 |
RGD:5686912 |
NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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Gfra1 |
GDNF family receptor alpha 1 |
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IEP |
mRNA:increased expression:facial VII nucleus |
RGD |
PMID:9582449 |
RGD:6218984 |
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
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Hgf |
hepatocyte growth factor |
treatment |
IDA |
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RGD |
PMID:21562589 |
RGD:8548634 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Mt3 |
metallothionein 3 |
treatment |
IDA |
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RGD |
PMID:14625437 |
RGD:9685806 |
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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Ndufa5 |
NADH:ubiquinone oxidoreductase subunit A5 |
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IEP |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:8875451 |
RGD:2302319 |
NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
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Ret |
ret proto-oncogene |
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IEP |
mRNA:increased expression:facial VII nucleus |
RGD |
PMID:9582449 |
RGD:6218984 |
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus |
RGD |
PMID:23817985 |
RGD:8547852 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:4327920 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Furrowed tongue |
ClinVar |
PMID:25741868 |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Alx1 |
ALX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Frontonasal dysplasia 3 |
OMIM ClinVar |
PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 |
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NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
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Antxr1 |
ANTXR cell adhesion molecule 1 |
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ISO |
DNA:missense mutations:cds:c.505C>T,c.262C>T (human) ClinVar Annotator: match by term: Gapo syndrome |
ClinVar OMIM RGD |
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 PMID:25741868 PMID:28492532 PMID:23602711 More...
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RGD:9684854 |
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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Abca5 |
ATP binding cassette subfamily A member 5 |
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ISO |
ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis |
OMIM ClinVar |
PMID:24831815 PMID:25741868 |
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NCBI chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976
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Fpr1 |
formyl peptide receptor 1 |
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ISO |
ClinVar Annotator: match by term: Gingival disease |
ClinVar |
PMID:28492532 |
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NCBI chr 1:58,745,019...58,756,776
Ensembl chr 1:58,747,246...58,756,559
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Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO ISS |
OMIM:135300 | OMIM:605544 | OMIM:609955 | OMIM:611010 ClinVar Annotator: match by term: Gingival fibromatosis |
MouseDO ClinVar RGD |
PMID:25741868 PMID:11868160 |
RGD:1580011 |
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Zfp862 |
zinc finger protein 862 |
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ISO |
ClinVar Annotator: match by term: Gingival fibromatosis |
ClinVar |
PMID:25741868 |
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NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995
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Rest |
RE1-silencing transcription factor |
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ISO |
ClinVar Annotator: match by term: Fibromatosis, gingival, 1 |
ClinVar |
PMID:28492532 PMID:28686854 |
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NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
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Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1 |
OMIM ClinVar |
PMID:11868160 PMID:14551916 PMID:16267129 PMID:17143282 PMID:17143285 PMID:17586837 PMID:18651097 PMID:18678287 PMID:18854871 PMID:18925667 PMID:18972187 PMID:19020799 PMID:19077116 PMID:19352411 PMID:19953625 PMID:20133692 PMID:20186801 PMID:20305546 PMID:20493809 PMID:20607846 PMID:20673819 PMID:20683980 PMID:21041952 PMID:21274610 PMID:21340158 PMID:21387466 PMID:21784453 PMID:22190897 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22494877 PMID:22585553 PMID:22589294 PMID:23487764 PMID:23665959 PMID:23673306 PMID:23885229 PMID:24033266 PMID:24037001 PMID:24451042 PMID:24458522 PMID:24522193 PMID:24803665 PMID:25073238 PMID:25337068 PMID:25712082 PMID:25741868 PMID:25802880 PMID:25862627 PMID:25864170 PMID:26214590 PMID:26297936 PMID:26467025 PMID:26580448 PMID:26686981 PMID:26918529 PMID:27153395 PMID:27236105 PMID:27304678 PMID:27763634 PMID:28166811 PMID:28378436 PMID:28492532 PMID:28957739 PMID:29037749 PMID:29402968 PMID:29493581 PMID:29625050 PMID:29696744 PMID:29752777 PMID:30266093 PMID:30784236 PMID:34008892 More...
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NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Rest |
RE1-silencing transcription factor |
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ISO |
ClinVar Annotator: match by term: Fibromatosis, gingival, 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28686854 PMID:33719663 |
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NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
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Fgf7 |
fibroblast growth factor 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11023675 |
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NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8708960 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Antxr2 |
ANTXR cell adhesion molecule 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12973667 PMID:14508707 |
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NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
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