|
G |
Il10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:26723902 |
RGD:14975265 |
NCBI chr13:45,024,921...45,029,586
|
|
|
G |
Tp63 |
tumor protein p63 |
|
ISO |
ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum |
ClinVar |
PMID:25741868 |
|
NCBI chr11:88,343,647...88,554,543
|
|
|
G |
Tp63 |
tumor protein p63 |
|
ISO ISS |
OMIM:106260 ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome DNA:missense mutations:exon:multiple CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD RGD |
PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:16740912 PMID:17576681 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:24309930 PMID:25741868 PMID:28492532 PMID:11159940 More...
|
RGD:11568643 |
NCBI chr11:88,343,647...88,554,543
|
|
|
G |
Hfe |
homeostatic iron regulator |
|
ISO |
DNA:missense mutation: :p.H63D (human) |
RGD |
PMID:28950260 |
RGD:14746964 |
NCBI chr17:41,841,302...41,849,359
|
|
G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
protein:increased expression:muccal mucosa: |
RGD |
PMID:20580281 |
RGD:12910477 |
NCBI chr 9:64,073,610...64,084,332
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
DNA:SNP:promoter:-1082G>A (rs1800896) (human) |
RGD |
PMID:27266194 |
RGD:14975145 |
NCBI chr13:45,024,921...45,029,586
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
severity |
ISO |
DNA:missense mutation:cds:677C>T (rs1801133) (human) |
RGD |
PMID:23665953 |
RGD:10449402 |
NCBI chr 5:163,748,346...163,768,141
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
DNA:SNP:promoter:-509T>C (human) |
RGD |
PMID:27266194 |
RGD:14975145 |
NCBI chr 1:90,324,312...90,340,627
|
|
|
G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 |
|
NCBI chr 2:227,839,058...228,113,560
|
|
|
G |
Atp7a |
ATPase copper transporting alpha |
|
ISO |
ClinVar Annotator: match by term: Au-Kline syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr X:75,159,635...75,267,094
|
|
G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:11,842,307...11,968,266
|
|
G |
Hnrnpk |
heterogeneous nuclear ribonucleoprotein K |
|
ISO |
ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition | ClinVar Annotator: match by term: Okamoto syndrome |
OMIM ClinVar |
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28492532 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 PMID:39033378 More...
|
|
NCBI chr17:6,269,302...6,280,429
|
|
G |
Med13l |
mediator complex subunit 13L |
|
ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:37,807,596...38,004,886
|
|
G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Okamoto syndrome |
ClinVar |
PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:10878807 PMID:11331612 PMID:11331613 PMID:12000816 PMID:12097293 PMID:12393546 PMID:12414898 PMID:12844285 PMID:12944410 PMID:15574766 PMID:15642680 PMID:16452184 PMID:16585181 PMID:17700531 PMID:17898043 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19602254 PMID:19906784 PMID:23772956 PMID:25741868 PMID:26845104 PMID:26846855 PMID:27517496 PMID:28235946 PMID:28492532 PMID:28873162 PMID:30890701 PMID:31980715 PMID:34628056 PMID:35668420 More...
|
|
NCBI chr 4:146,772,483...146,779,376
|
|
|
G |
Bche |
butyrylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16884476 |
|
NCBI chr 2:160,607,289...160,699,760
|
|
G |
Foxe1 |
forkhead box E1 |
|
ISO ISS |
ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM:241850 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 PMID:21177256 PMID:24219130 PMID:25381600 PMID:25741868 PMID:28444304 PMID:28492532 PMID:32428920 PMID:35963604 More...
|
|
NCBI chr 5:60,630,027...60,632,835
|
|
|
G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE |
OMIM CTD ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
|
|
NCBI chr11:50,591,926...50,614,169
|
|
|
G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 |
OMIM ClinVar |
PMID:25691407 |
|
NCBI chr 1:252,908,748...252,944,273
|
|
|
G |
Med25 |
mediator complex subunit 25 |
|
ISO |
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome |
OMIM ClinVar |
PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:32816121 PMID:37091313 More...
|
|
NCBI chr 1:95,359,961...95,375,827
|
|
|
G |
Hoxc13 |
homeobox C13 |
|
ISO |
Ectodermal dysplasia-9 |
OMIA |
PMID:28011715 |
|
NCBI chr 7:134,058,640...134,065,479
|
|
G |
Plekha5 |
pleckstrin homology domain containing A5 |
|
ISO |
ClinVar Annotator: match by term: Bilateral cleft lip |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:173,333,891...173,503,546
|
|
G |
Sox3 |
SRY-box transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Bilateral cleft lip |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
|
NCBI chr X:139,308,608...139,310,687
|
|
G |
Tmco1 |
transmembrane and coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Bilateral cleft lip |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
|
NCBI chr13:81,993,172...82,016,496
|
|
|
G |
Cdh1 |
cadherin 1 |
|
ISO |
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 |
OMIM ClinVar |
PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 PMID:11332401 PMID:11598162 PMID:11747475 PMID:11948460 PMID:12588804 PMID:12800196 PMID:14500541 PMID:15235021 PMID:16061854 PMID:16501831 PMID:16787116 PMID:16801346 PMID:16924464 PMID:17221870 PMID:17522512 PMID:17545690 PMID:18442100 PMID:19139070 PMID:19268661 PMID:19269290 PMID:19725995 PMID:20233471 PMID:20373070 PMID:20719348 PMID:20921021 PMID:21106365 PMID:21271559 PMID:21424370 PMID:22470475 PMID:22703879 PMID:22723466 PMID:22850631 PMID:23197654 PMID:23264079 PMID:23709761 PMID:24033266 PMID:24204729 PMID:24326041 PMID:24493355 PMID:24690483 PMID:24728327 PMID:24755471 PMID:25067988 PMID:25123297 PMID:25186627 PMID:25231023 PMID:25593300 PMID:25637381 PMID:25741868 PMID:25882375 PMID:25980754 PMID:26072394 PMID:26123647 PMID:26182300 PMID:26206375 PMID:26467025 PMID:26483394 PMID:26580448 PMID:26681312 PMID:26759166 PMID:26845104 PMID:26893459 PMID:27146957 PMID:27153395 PMID:27227907 PMID:27443514 PMID:27566442 PMID:27582386 PMID:27616075 PMID:27621404 PMID:27930734 PMID:27978560 PMID:28135145 PMID:28301459 PMID:28492532 PMID:28608266 PMID:28640387 PMID:28688938 PMID:28767289 PMID:28873162 PMID:28944238 PMID:28961279 PMID:28993866 PMID:29025585 PMID:29348693 PMID:29470806 PMID:29492670 PMID:29522266 PMID:29577179 PMID:29589180 PMID:29641532 PMID:29752822 PMID:30089731 PMID:30287823 PMID:30306255 PMID:30311375 PMID:30374176 PMID:30426508 PMID:30661051 PMID:31159747 PMID:31514334 PMID:31589614 PMID:31742824 PMID:31871109 PMID:32260281 PMID:32269045 PMID:32283892 PMID:32566746 PMID:32658311 PMID:32842532 PMID:33193653 PMID:33471991 PMID:33619332 PMID:33980423 PMID:34326862 PMID:34471991 PMID:35089076 PMID:36271359 PMID:36436516 PMID:36474027 PMID:36605468 PMID:36988593 More...
|
|
NCBI chr19:51,402,178...51,471,572
|
|
|
G |
Ctnnd1 |
catenin delta 1 |
|
ISO |
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 | ClinVar Annotator: match by term: CTNND1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28301459 PMID:28492532 PMID:29805042 PMID:32196547 PMID:37589029 More...
|
|
NCBI chr 3:90,090,025...90,141,247
|
|
|
G |
Ric1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
|
ISO |
ClinVar Annotator: match by term: Catifa syndrome | ClinVar Annotator: match by term: RIC1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27878435 PMID:31932796 |
|
NCBI chr 1:227,285,510...227,384,553
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20436469 |
|
NCBI chr 2:212,849,470...212,986,730
|
|
G |
Adamts20 |
ADAM metallopeptidase with thrombospondin type 1 motif, 20 |
|
ISO |
Cleft lip with or without cleft palate, ADAMTS20-related |
OMIA |
PMID:13875838 PMID:25798845 PMID:28738009 PMID:28887848 PMID:34838248 |
|
NCBI chr 7:125,396,227...125,528,020
|
|
G |
Arhgap29 |
Rho GTPase activating protein 29 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:210,060,036...210,132,572
|
|
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
|
|
G |
Bmp4 |
bone morphogenetic protein 4 |
susceptibility |
ISO |
DNA:polymorphism:cds:p.V152A(human) DNA:SNP: : rs17563 (p.V152A)(human) ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant |
ClinVar RGD |
PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 PMID:25741868 PMID:28492532 PMID:18771417 PMID:23227324 More...
|
RGD:13442495, RGD:13442497 |
NCBI chr15:22,098,191...22,113,145
|
|
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:30311375 PMID:36436516 PMID:15831593 More...
|
RGD:1599548 |
NCBI chr19:51,402,178...51,471,572
|
|
G |
Ctnnd1 |
catenin delta 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:25741868 PMID:29805042 |
|
NCBI chr 3:90,090,025...90,141,247
|
|
G |
Esrp2 |
epithelial splicing regulatory protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
|
NCBI chr19:34,034,559...34,041,726
|
|
G |
Fgf1 |
fibroblast growth factor 1 |
|
ISO |
DNA:SNP: :rs34010 (human) |
RGD |
PMID:24613087 |
RGD:11567264 |
NCBI chr18:30,937,670...31,023,786
|
|
G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 2:50,801,171...50,878,218
|
|
G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 2:122,164,454...122,218,796
|
|
G |
Fgf3 |
fibroblast growth factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 1:200,001,162...200,005,539
|
|
G |
Fgf7 |
fibroblast growth factor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 3:133,734,557...133,786,678
|
|
G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 1:244,584,477...244,590,578
|
|
G |
Fgf9 |
fibroblast growth factor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr15:32,208,993...32,254,952
|
|
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 chr16:73,194,631...73,249,855
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 1:194,175,703...194,280,914
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr14:81,211,800...81,227,215
|
|
G |
Gdf6 |
growth differentiation factor 6 |
|
ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 5:27,793,561...27,809,884
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO ISS |
van der Woude syndrome, OMIM:119300 ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:17041601 PMID:18836445 PMID:20436469 PMID:25741868 PMID:28492532 PMID:12219090 More...
|
RGD:1600214 |
NCBI chr13:104,672,179...104,691,386
|
|
G |
Kif7 |
kinesin family member 7 |
|
ISO |
DNA:SNPs:introns:rs4932238,rs4932240(human) |
RGD |
PMID:26602496 |
RGD:11553833 |
NCBI chr 1:143,041,206...143,067,873
|
|
G |
Mafb |
MAF bZIP transcription factor B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20436469 |
|
NCBI chr 3:169,417,890...169,419,810
|
|
G |
Msx1 |
msh homeobox 1 |
|
ISO |
DNA:mutations, SNPs:multiple (human) |
RGD |
PMID:12807959 |
RGD:5132609 |
NCBI chr14:77,185,802...77,189,735
|
|
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
|
|
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 5:163,748,346...163,768,141
|
|
G |
Mthfs |
methenyltetrahydrofolate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 8:89,729,498...89,801,998
|
|
G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr17:62,911,705...62,996,544
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859337 |
|
NCBI chr 7:95,483,105...95,488,031
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 |
RGD |
PMID:10932188 |
RGD:1599795 |
NCBI chr 8:44,101,776...44,164,863
|
|
G |
Nog |
noggin |
susceptibility |
ISO |
DNA:SNP: :rs227731(human) DNA:SNP: : rs227727 (human) |
RGD |
PMID:25339627 PMID:25704602 |
RGD:12801482, RGD:11251786 |
NCBI chr10:74,625,874...74,627,501
|
|
G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 4:11,686,088...11,706,604
|
|
G |
Ntn1 |
netrin 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate |
ClinVar |
|
|
NCBI chr10:52,899,933...53,098,591
|
|
G |
Plekha5 |
pleckstrin homology domain containing A5 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
|
NCBI chr 4:173,333,891...173,503,546
|
|
G |
Plekha7 |
pleckstrin homology domain containing A7 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
|
NCBI chr 1:170,364,524...170,547,843
|
|
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
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16405370 |
|
NCBI chr17:1,548,449...1,613,461
|
|
G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip |
ClinVar |
PMID:25741868 |
|
NCBI chr17:12,124,749...12,300,044
|
|
G |
Sdc2 |
syndecan 2 |
|
ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 7:64,127,185...64,239,885
|
|
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
|
|
G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17576140 |
|
NCBI chr15:82,692,291...82,697,408
|
|
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
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G |
Tcn2 |
transcobalamin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16470748 |
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NCBI chr14:78,813,343...78,828,549
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G |
Tp63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant |
CTD ClinVar |
PMID:16688749 PMID:25741868 |
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NCBI chr11:88,343,647...88,554,543
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G |
Tyms |
thymidylate synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 9:120,760,057...120,776,149
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G |
Zfp462 |
zinc finger protein 462 |
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ISO |
ClinVar Annotator: match by term: Cleft lip |
ClinVar |
PMID:25741868 |
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NCBI chr 5:74,465,383...74,606,020
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G |
Hyal2 |
hyaluronidase 2 |
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ISO |
ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:108,241,895...108,246,853
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 |
ClinVar |
PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 PMID:27798044 PMID:28492532 More...
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NCBI chr11:88,343,647...88,554,543
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur 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:25913853 PMID:28492532 PMID:32554531 More...
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NCBI chr 8:44,101,776...44,164,863
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G |
Amer1 |
APC membrane recruitment protein 1 |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 |
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NCBI chr X:60,300,595...60,316,480
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G |
Bhmt2 |
betaine-homocysteine S-methyltransferase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 2:24,895,525...24,912,475
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G |
Bnc2 |
basonuclin zinc finger protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19706529 |
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NCBI chr 5:103,724,934...104,061,890
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:insertion |
CTD RGD |
PMID:9787075 PMID:9787075 |
RGD:11576291 |
NCBI chr X:11,572,328...11,915,831
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G |
Cbfb |
core-binding factor subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17022082 |
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NCBI chr19:49,955,133...50,002,661
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G |
Cdc42 |
cell division cycle 42 |
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ISS |
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MouseDO |
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NCBI chr 5:154,838,478...154,876,629
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10346820 |
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NCBI chr 1:252,908,748...252,944,273
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G |
Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
DNA:SNPs, haplotypes: :multiple DNA:SNPs, haplotypes: :rs3129208 (human) |
RGD |
PMID:20672350 PMID:22112025 |
RGD:12436724, RGD:12904711 |
NCBI chr20:4,786,932...4,816,598
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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 7:130,977,561...131,006,627
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G |
Dlg1 |
discs large MAGUK scaffold protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11238884 |
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NCBI chr11:82,416,853...82,607,797
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G |
Dnah11 |
dynein, axonemal, heavy chain 11 |
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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
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G |
Egf |
epidermal growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11399798 |
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NCBI chr 2:220,893,660...220,976,331
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G |
Fgf10 |
fibroblast growth factor 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 2:50,801,171...50,878,218
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G |
Fgf2 |
fibroblast growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 2:122,164,454...122,218,796
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G |
Fgf3 |
fibroblast growth factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 1:200,001,162...200,005,539
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G |
Fgf7 |
fibroblast growth factor 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 3:133,734,557...133,786,678
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G |
Fgf8 |
fibroblast growth factor 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 1:244,584,477...244,590,578
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G |
Fgf9 |
fibroblast growth factor 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr15:32,208,993...32,254,952
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr16:73,194,631...73,249,855
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 PMID:29526646 |
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NCBI chr 1:194,175,703...194,280,914
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr14:81,211,800...81,227,215
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15917206 PMID:16538226 PMID:20979190 PMID:22465605 PMID:25741868 PMID:27193221 PMID:28492532 PMID:30089473 PMID:31942422 More...
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NCBI chr X:157,159,051...157,185,559
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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
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G |
Fzd4 |
frizzled class receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
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NCBI chr 1:143,279,934...143,288,799
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G |
Gata6 |
GATA binding protein 6 |
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ISO |
protein:decreased expression:secondary palatal shelf (mouse) |
RGD |
PMID:27391658 |
RGD:13208933 |
NCBI chr18:2,460,909...2,492,322
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G |
Gdf6 |
growth differentiation factor 6 |
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ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 5:27,793,561...27,809,884
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO |
|
RGD |
PMID:18816854 |
RGD:12738224 |
NCBI chr17:54,134,064...54,405,198
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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:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 More...
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NCBI chr 5:171,357,778...171,424,489
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G |
Golgb1 |
golgin B1 |
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ISS |
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MouseDO |
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NCBI chr11:77,348,573...77,406,165
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G |
Grhl3 |
grainyhead-like transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: nonsyndromic cleft palate |
ClinVar |
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NCBI chr 5:147,774,161...147,806,291
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G |
Inpp1 |
inositol polyphosphate-1-phosphatase |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
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NCBI chr 9:56,161,816...56,209,774
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 PMID:28492532 PMID:29186038 PMID:33749171 PMID:34188062 More...
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NCBI chr 3:29,614,868...29,627,542
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G |
Irf6 |
interferon regulatory factor 6 |
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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
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G |
Kif7 |
kinesin family member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21552264 |
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NCBI chr 1:143,041,206...143,067,873
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G |
Meg3 |
maternally expressed 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33812962 |
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NCBI chr 6:128,491,808...128,524,010
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G |
Meis2 |
Meis homeobox 2 |
|
ISO |
DNA:mutations:cds:multiples ClinVar Annotator: match by term: Cleft palate |
ClinVar RGD |
PMID:25741868 PMID:30291340 |
RGD:155598678 |
NCBI chr 3:102,742,904...102,944,833
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G |
Mnt |
MAX network transcriptional repressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15028671 |
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NCBI chr10:59,699,208...59,714,848
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G |
Msx1 |
msh homeobox 1 |
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ISO |
DNA:mutations, SNPs:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12163415 PMID:12701100 PMID:15301380 PMID:12807959 |
RGD:5132609 |
NCBI chr14:77,185,802...77,189,735
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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
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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
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr17:62,911,705...62,996,544
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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 7:95,483,105...95,488,031
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G |
Myo15a |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 |
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NCBI chr10:45,776,907...45,835,473
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G |
Myo19 |
myosin XIX |
|
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
|
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 |
RGD |
PMID:10932188 |
RGD:1599795 |
NCBI chr 8:44,101,776...44,164,863
|
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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
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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 6:110,675,107...110,715,586
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 4:11,686,088...11,706,604
|
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G |
Pax9 |
paired box 9 |
|
ISO |
|
RGD |
PMID:17097601 |
RGD:12801424 |
NCBI chr 6:74,186,749...74,203,508
|
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: nonsyndromic cleft palate |
CTD ClinVar |
PMID:18264099 PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 More...
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NCBI chr14:33,360,027...33,408,604
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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 |
|
NCBI chr10:83,387,113...83,399,357
|
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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 |
|
NCBI chr10:69,746,996...69,782,656
|
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G |
Pitx2 |
paired-like homeodomain 2 |
|
ISO |
|
RGD |
PMID:12975342 |
RGD:12910559 |
NCBI chr 2:220,391,417...220,411,588
|
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G |
Prmt1 |
protein arginine methyltransferase 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:104,595,339...104,605,552
|
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G |
Ptch1 |
patched 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16405370 |
|
NCBI chr17:1,548,449...1,613,461
|
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G |
Rarg |
retinoic acid receptor, gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21807577 |
|
NCBI chr 7:133,367,833...133,390,301
|
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G |
Rere |
arginine-glutamic acid dipeptide repeats |
|
ISO |
|
RGD |
PMID:33772547 |
RGD:329849004 |
NCBI chr 5:160,765,855...161,097,678
|
|
G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
susceptibility |
ISO |
DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) |
RGD |
PMID:22490406 |
RGD:11535950 |
NCBI chr17:12,124,749...12,300,044
|
|
G |
Ryk |
receptor-like tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10932185 |
|
NCBI chr 8:112,298,158...112,370,912
|
|
G |
Satb2 |
SATB homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft palate |
CTD ClinVar |
PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 PMID:28492532 PMID:29023086 More...
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|
NCBI chr 9:58,348,027...58,534,256
|
|
G |
Sdc2 |
syndecan 2 |
|
ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 7:64,127,185...64,239,885
|
|
G |
Shh |
sonic hedgehog signaling molecule |
|
ISO |
|
RGD |
PMID:17097601 |
RGD:12801424 |
NCBI chr 4:6,954,017...6,963,170
|
|
G |
Shox2 |
SHOX homeobox 2 |
|
ISO |
|
RGD |
PMID:16141225 |
RGD:12859081 |
NCBI chr 2:153,524,324...153,537,571
|
|
G |
Sim2 |
SIM bHLH transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12203729 |
|
NCBI chr11:33,414,218...33,453,663
|
|
G |
Six2 |
SIX homeobox 2 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 6:8,974,859...8,981,345
|
|
G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr20:11,584,410...11,602,429
|
|
G |
Smarca4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:22426308 PMID:25741868 PMID:28973083 PMID:33461977 |
|
NCBI chr 8:28,438,370...28,535,071
|
|
G |
Sox3 |
SRY-box transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
|
NCBI chr X:139,308,608...139,310,687
|
|
G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
|
ISS |
|
MouseDO |
|
|
NCBI chr20:13,337,983...13,443,665
|
|
G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17576140 |
|
NCBI chr15:82,692,291...82,697,408
|
|
G |
Sumo1 |
small ubiquitin-like modifier 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16990542 |
|
NCBI chr 9:61,078,790...61,108,697
|
|
G |
Tbx1 |
T-box transcription factor 1 |
|
ISO |
|
RGD |
PMID:30121012 PMID:25556186 |
RGD:155631306, RGD:155641231 |
NCBI chr11:82,409,275...82,419,058
|
|
G |
Tbx22 |
T-box transcription factor 22 |
|
ISO |
cleft palate with ankyloglossia, OMIM:303400 |
RGD |
PMID:12374769 |
RGD:724722 |
NCBI chr X:76,796,398...76,847,447
|
|
G |
Tenm4 |
teneurin transmembrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
|
|
NCBI chr 1:149,895,097...151,263,315
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450421 |
|
NCBI chr 1:90,324,312...90,340,627
|
|
G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450421 |
|
NCBI chr13:98,160,075...98,261,771
|
|
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 6:111,435,170...111,457,646
|
|
G |
Tmco1 |
transmembrane and coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
|
NCBI chr13:81,993,172...82,016,496
|
|
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 chr10:46,301,336...46,322,460
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G |
Tp63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11462173 |
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NCBI chr11:88,343,647...88,554,543
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G |
Tyms |
thymidylate synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 9:120,760,057...120,776,149
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G |
Tbx22 |
T-box transcription factor 22 |
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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:76,796,398...76,847,447
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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 | ClinVar Annotator: match by term: MEIS2-related disorder CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 PMID:27225850 PMID:28492532 PMID:30055086 PMID:30291340 PMID:30735726 PMID:32345733 PMID:33526774 More...
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NCBI chr 3:102,742,904...102,944,833
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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
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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 PMID:27094131 PMID:28492532 PMID:29559475 More...
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NCBI chr 5:148,782,976...148,838,319
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G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Cleft soft palate |
ClinVar |
PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 PMID:29178448 PMID:32612477 More...
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NCBI chr 8:93,084,548...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 8:124,672,677...124,761,741
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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 | ClinVar Annotator: match by term: TUBB-related condition |
OMIM ClinVar |
PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 PMID:29706646 PMID:30738969 PMID:35183200 More...
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NCBI chr20:2,917,577...2,921,726
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G |
Mapre2 |
microtubule-associated protein, RP/EB family, member 2 |
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ISO |
ClinVar Annotator: match by term: MAPRE2-related condition | ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 |
OMIM ClinVar |
PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:28492532 PMID:31903734 More...
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NCBI chr18:15,028,675...15,169,553
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome |
OMIM ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 PMID:27714920 PMID:27843126 PMID:28492532 PMID:30285720 PMID:30988732 PMID:31680123 PMID:36474027 PMID:39033378 More...
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NCBI chr18:56,468,449...56,844,984
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G |
Tp63 |
tumor protein p63 |
susceptibility |
ISO ISS |
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 OMIM:604292 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 MouseDO CTD OMIM RGD |
PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:20556892 PMID:21078104 PMID:21204238 PMID:21211247 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24309930 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:31050217 PMID:32476291 PMID:10535733 PMID:26470833 PMID:12161593 PMID:11903230 More...
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RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 |
NCBI chr11:88,343,647...88,554,543
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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:9536098 PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12939657 PMID:16691622 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:20556892 PMID:21078104 PMID:21204238 PMID:21211247 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24309930 PMID:24734328 PMID:25741868 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:31050217 PMID:32476291 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 chr11:88,343,647...88,554,543
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G |
Alx1 |
ALX homeobox 1 |
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ISO ISS |
ClinVar Annotator: match by term: ALX1-related condition | ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM:613456 |
OMIM ClinVar MouseDO |
PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 |
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NCBI chr 7:38,157,626...38,177,220
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome |
OMIM ClinVar |
PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30006928 PMID:32174975 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 More...
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NCBI chr X:66,404,807...66,427,775
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate |
OMIM ClinVar |
PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 PMID:16764984 PMID:19504604 PMID:20536592 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24204987 PMID:24888332 PMID:25064402 PMID:25326635 PMID:25741868 PMID:26931467 PMID:28492532 PMID:31474318 PMID:31748124 PMID:33983622 More...
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NCBI chr16:73,194,631...73,249,855
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G |
Arhgap29 |
Rho GTPase activating protein 29 |
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ISO |
ClinVar Annotator: match by term: Isolated cleft palate |
ClinVar |
PMID:25741868 |
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NCBI chr 2:210,060,036...210,132,572
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G |
Grhl3 |
grainyhead-like transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Isolated cleft palate |
ClinVar |
PMID:25741868 PMID:27018475 PMID:28492532 |
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NCBI chr 5:147,774,161...147,806,291
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
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ISO |
ClinVar Annotator: match by term: Isolated cleft palate |
ClinVar |
PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 |
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NCBI chr14:33,360,027...33,408,604
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G |
Satb2 |
SATB homeobox 2 |
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ISS ISO |
OMIM:119540 ClinVar Annotator: match by term: Isolated cleft palate |
MouseDO ClinVar |
PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 PMID:28151491 PMID:28211976 PMID:28492532 PMID:29023086 PMID:32581362 More...
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NCBI chr 9:58,348,027...58,534,256
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
ClinVar Annotator: match by term: Kapur-Toriello syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:22,098,191...22,113,145
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G |
Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:11297324 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
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NCBI chr 7:130,977,561...131,006,627
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G |
Camk2a |
calcium/calmodulin-dependent protein kinase II alpha |
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ISO |
ClinVar Annotator: match by term: Larsen syndrome, dominant type |
ClinVar |
PMID:25741868 |
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NCBI chr18:56,648,779...56,711,505
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G |
Chst3 |
carbohydrate sulfotransferase 3 |
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ISO |
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:28,114,386...28,152,046
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Larsen syndrome |
ClinVar |
PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10777366 PMID:11055896 PMID:11754059 PMID:12707965 PMID:16912704 PMID:18198189 PMID:19088846 PMID:22045636 PMID:23149434 PMID:23165795 PMID:24715719 PMID:25614871 PMID:25741868 PMID:26380986 PMID:28492532 PMID:29620724 PMID:35726512 More...
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NCBI chr14:81,211,800...81,227,215
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G |
Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 PMID:17576681 PMID:18322662 PMID:19085972 PMID:20301736 PMID:21620354 PMID:22190451 PMID:24123776 PMID:25741868 PMID:26380986 PMID:26491051 PMID:27048506 PMID:28229453 PMID:28492532 PMID:29566257 PMID:30544257 PMID:30712878 PMID:31836586 More...
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NCBI chr15:16,961,999...17,095,059
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G |
Il10 |
interleukin 10 |
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ISO |
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RGD |
PMID:26723902 |
RGD:14975265 |
NCBI chr13:45,024,921...45,029,586
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
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RGD |
PMID:17238970 |
RGD:8662391 |
NCBI chr20:7,150,820...7,161,373
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G |
Tp53 |
tumor protein p53 |
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ISO |
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RGD |
PMID:17238970 |
RGD:8662391 |
NCBI chr10:54,798,871...54,810,300
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G |
RT1-CE16 |
RT1 class I, locus CE16 |
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ISO |
protein:increased expression:peripheral blood (human) |
RGD |
PMID:32045706 |
RGD:329961316 |
NCBI chr20:3,261,656...3,265,548
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G |
Hoxa1 |
homeobox A1 |
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ISO |
ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate |
ClinVar |
PMID:25741868 |
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NCBI chr 4:81,255,814...81,258,587
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G |
Hoxa2 |
homeobox A2 |
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ISO |
ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868 |
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NCBI chr 4:81,262,668...81,266,970
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G |
Tubb5 |
tubulin, beta 5 class I |
|
ISO |
ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome |
ClinVar |
PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 PMID:29706646 PMID:30738969 PMID:35183200 More...
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NCBI chr20:2,917,577...2,921,726
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G |
Atp6v0a4 |
ATPase H+ transporting V0 subunit a4 |
|
ISO |
ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:67,727,145...67,809,092
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G |
Insr |
insulin receptor |
|
ISO |
ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia |
ClinVar |
PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 PMID:25741868 PMID:27896077 PMID:28492532 More...
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NCBI chr12:5,991,135...6,129,275
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G |
Stac3 |
SH3 and cysteine rich domain 3 |
|
ISO |
ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 PMID:28411587 PMID:28492532 PMID:28777491 PMID:30168660 PMID:31219695 PMID:32492370 More...
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NCBI chr 7:63,343,078...63,350,590
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G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oblique facial clefts | ClinVar Annotator: match by term: Oculomaxillofacial dysostosis |
OMIM CTD ClinVar |
PMID:21703590 PMID:25741868 PMID:28492532 |
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NCBI chr20:13,337,983...13,443,665
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G |
Mid1 |
midline 1 |
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ISO ISS |
ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I OMIM:300000 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 PMID:17221865 PMID:18360914 PMID:18949047 PMID:20671548 PMID:21326312 PMID:23757202 PMID:25207814 PMID:25304119 PMID:25741868 PMID:25874572 PMID:27749392 PMID:28492532 PMID:29456483 PMID:32926417 More...
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NCBI chr X:24,116,674...24,491,205
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G |
Edn1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16391412 |
|
NCBI chr17:22,660,799...22,666,687
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
associated with Behcet Syndrome;protein:increased expression:muccal mucosa: |
RGD |
PMID:20580281 |
RGD:12910477 |
NCBI chr 9:64,073,610...64,084,332
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G |
Lep |
leptin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16391412 |
|
NCBI chr 4:58,626,529...58,640,663
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G |
Stat4 |
signal transducer and activator of transcription 4 |
|
ISO |
associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) |
RGD |
PMID:21719445 |
RGD:5147916 |
NCBI chr 9:49,472,660...49,588,540
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G |
Acss2 |
acyl-CoA synthetase short-chain family member 2 |
|
ISO |
DNA:missense mutation: :p.V496A (rs59088485) (human) ClinVar Annotator: match by term: Nonsyndromic cleft lip palate |
ClinVar RGD |
PMID:25741868 PMID:27229527 PMID:28543373 PMID:27229527 |
RGD:13831307, RGD:13831309 |
NCBI chr 3:144,003,808...144,047,452
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G |
Axin2 |
axin 2 |
|
ISO |
DNA:SNP:cds:rs2240308(p.P50S)(human) |
RGD |
PMID:19119171 |
RGD:151356509 |
NCBI chr10:94,393,379...94,426,579
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G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft |
ClinVar |
PMID:25741868 |
|
NCBI chr15:22,098,191...22,113,145
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G |
Cdh1 |
cadherin 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft |
ClinVar |
PMID:2449335 PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 PMID:24033266 PMID:24493355 PMID:24728327 PMID:25593300 PMID:25637381 PMID:25741868 PMID:25980754 PMID:26072394 PMID:26123647 PMID:26467025 PMID:26483394 PMID:26759166 PMID:27146957 PMID:27153395 PMID:27443514 PMID:27616075 PMID:27930734 PMID:27978560 PMID:28135145 PMID:28492532 PMID:28640387 PMID:28944238 PMID:29348693 PMID:29589180 PMID:30311375 PMID:32260281 PMID:36436516 More...
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NCBI chr19:51,402,178...51,471,572
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G |
Cep70 |
centrosomal protein 70 |
|
ISO |
ClinVar Annotator: match by term: Median cleft lip and palate |
ClinVar |
PMID:19254375 PMID:25741868 PMID:31680349 |
|
NCBI chr 8:99,810,270...99,863,279
|
|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Orofacial clefting |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,159,051...157,185,559
|
|
G |
Fst |
follistatin |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft |
ClinVar |
PMID:31215115 |
|
NCBI chr 2:47,856,345...47,863,670
|
|
G |
Gdf11 |
growth differentiation factor 11 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft |
ClinVar |
PMID:31215115 |
|
NCBI chr 7:1,311,732...1,325,211
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
no_association |
ISO |
DNA:deletion: : (human) |
RGD |
PMID:11471167 |
RGD:12792251 |
NCBI chr 2:198,338,005...198,346,007
|
|
G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion:cds: (human) |
RGD |
PMID:11505167 |
RGD:12792210 |
NCBI chr20:12,856,068...12,873,020
|
|
G |
Hkdc1 |
hexokinase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate |
ClinVar |
PMID:25741868 PMID:27229527 |
|
NCBI chr20:30,878,037...30,917,044
|
|
G |
Loxhd1 |
lipoxygenase homology PLAT domains 1 |
susceptibility |
ISO |
DNA:SNP:exon:rs1450425 (human) |
RGD |
PMID:27242896 |
RGD:13204730 |
NCBI chr18:70,817,962...70,970,606
|
|
G |
Lrp6 |
LDL receptor related protein 6 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft |
ClinVar |
PMID:22813217 PMID:23806086 PMID:26963285 |
|
NCBI chr 4:167,269,856...167,400,364
|
|
G |
Meis2 |
Meis homeobox 2 |
|
ISO |
DNA:mutations, haplotype insufficiency: : |
RGD |
PMID:24678003 |
RGD:155598680 |
NCBI chr 3:102,742,904...102,944,833
|
|
G |
Msx1 |
msh homeobox 1 |
|
ISS |
OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 |
MouseDO |
|
|
NCBI chr14:77,185,802...77,189,735
|
|
G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
DNA:SNPs DNA:SNPs: :rs3752462, rs2009930 (human) DNA:SNP, haplotype: :rs7078 (human) DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human) |
RGD |
PMID:18716610 PMID:17337617 PMID:19320731 PMID:19891592 |
RGD:12798509, RGD:12798514, RGD:12798512, RGD:12798511 |
NCBI chr 7:111,224,291...111,304,963
|
|
G |
Ndst1 |
N-deacetylase and N-sulfotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip/palate |
ClinVar |
PMID:25741868 |
|
NCBI chr18:54,136,887...54,199,545
|
|
G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
|
ISO |
DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human) ClinVar Annotator: match by term: Nonsyndromic cleft lip palate |
ClinVar RGD |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25133751 PMID:25741868 PMID:27229527 PMID:27535533 PMID:28492532 PMID:32483926 PMID:34426522 PMID:27229527 More...
|
RGD:13831309 |
NCBI chr17:73,329,461...73,346,359
|
|
G |
Smarce1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
|
ISO |
ClinVar Annotator: match by term: Facial cleft |
ClinVar |
PMID:25741868 |
|
NCBI chr10:84,655,468...84,678,259
|
|
G |
Tbx22 |
T-box transcription factor 22 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft |
ClinVar |
PMID:25741868 |
|
NCBI chr X:76,796,398...76,847,447
|
|
G |
Tfap2a |
transcription factor AP-2 alpha |
|
ISS |
OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 |
MouseDO |
|
|
NCBI chr17:24,230,064...24,253,219
|
|
G |
Vwa8 |
von Willebrand factor A domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate |
ClinVar |
PMID:25741868 PMID:27229527 |
|
NCBI chr15:54,252,703...54,576,871
|
|
|
G |
Adamtsl1 |
ADAMTS-like 1 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:99,964,406...100,919,786
|
|
G |
Cdh11 |
cadherin 11 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr19:2,148,447...2,305,754
|
|
G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:24664531 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 7:130,977,561...131,006,627
|
|
G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:50,801,171...50,878,218
|
|
G |
Mafb |
MAF bZIP transcription factor B |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:169,417,890...169,419,810
|
|
G |
Nectin2 |
nectin cell adhesion molecule 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21637507 |
|
NCBI chr 1:79,372,123...79,407,379
|
|
G |
Nipbl |
NIPBL, cohesin loading factor |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:57,399,443...57,586,770
|
|
G |
Ntn1 |
netrin 1 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:52,899,933...53,098,591
|
|
G |
Pvr |
PVR cell adhesion molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21637507 |
|
NCBI chr 1:79,561,294...79,576,700
|
|
G |
Runx2 |
RUNX family transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:23,661,278...23,990,248
|
|
G |
Ryk |
receptor-like tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
|
|
NCBI chr 8:112,298,158...112,370,912
|
|
G |
Taf1b |
TATA-box binding protein associated factor, RNA polymerase I subunit B |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:41,116,980...41,194,593
|
|
G |
Ttn |
titin |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:18414213 PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:26701604 PMID:28492532 More...
|
|
NCBI chr 3:82,059,648...82,332,130
|
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 10 |
ClinVar |
PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676 |
|
NCBI chr13:104,672,179...104,691,386
|
|
G |
Sumo1 |
small ubiquitin-like modifier 1 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 10 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 |
|
NCBI chr 9:61,078,790...61,108,697
|
|
|
G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 | ClinVar Annotator: match by term: Orofacial cleft 11 |
OMIM CTD ClinVar |
PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 PMID:19557432 PMID:19685083 PMID:21340693 PMID:22052794 PMID:22978696 PMID:23227324 PMID:23841782 PMID:24429398 PMID:25741868 PMID:28492532 PMID:30568244 PMID:31053785 More...
|
|
NCBI chr15:22,098,191...22,113,145
|
|
|
G |
Dlx4 |
distal-less homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: DLX4-related condition | ClinVar Annotator: match by term: Orofacial cleft 15 |
OMIM ClinVar |
PMID:25741868 PMID:25954033 PMID:28492532 |
|
NCBI chr10:80,085,037...80,090,434
|
|
|
G |
Msx1 |
msh homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Orofacial cleft 5 |
OMIM CTD ClinVar |
PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr14:77,185,802...77,189,735
|
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to |
OMIM ClinVar |
PMID:9536098 PMID:12219090 PMID:12920575 PMID:14618417 PMID:15317890 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:16199547 PMID:16211254 PMID:16998136 PMID:17551329 PMID:17576681 PMID:18209213 PMID:18506368 PMID:18617879 PMID:19036739 PMID:19282774 PMID:19449419 PMID:19536562 PMID:19623037 PMID:19734457 PMID:19842205 PMID:20184620 PMID:20301581 PMID:21045959 PMID:21468557 PMID:21739575 PMID:22440537 PMID:22488974 PMID:23154523 PMID:23394314 PMID:23713753 PMID:23949966 PMID:24936515 PMID:25326635 PMID:25547932 PMID:25548624 PMID:25579819 PMID:25741868 PMID:25784454 PMID:26346622 PMID:28361103 PMID:28492532 PMID:28945736 PMID:29115498 PMID:29453417 PMID:30982524 PMID:31468312 PMID:31901040 PMID:32108996 PMID:32558391 PMID:36901693 More...
|
|
NCBI chr13:104,672,179...104,691,386
|
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 7 |
ClinVar |
PMID:10932188 PMID:11559849 PMID:32554531 |
|
NCBI chr 8:44,101,776...44,164,863
|
|
|
G |
Tp63 |
tumor protein p63 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 8 |
OMIM ClinVar |
PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 PMID:27798044 PMID:28492532 PMID:29500247 More...
|
|
NCBI chr11:88,343,647...88,554,543
|
|
|
G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 PMID:32238909 PMID:36474027 More...
|
|
NCBI chr18:58,393,759...58,726,709
|
|
|
G |
B3glct |
beta 3-glucosyltransferase |
|
ISO ISS |
OMIM:261540 ClinVar Annotator: match by term: Peters plus syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 PMID:18798333 PMID:19796186 PMID:20301637 PMID:23161355 PMID:23213277 PMID:23889335 PMID:25741868 PMID:26684045 PMID:28492532 PMID:32204707 More...
|
|
NCBI chr12:5,255,521...5,346,807
|
|
G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
ClinVar Annotator: match by term: Peters plus syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29584859 |
|
NCBI chr 1:244,584,477...244,590,578
|
|
|
G |
Cast |
calpastatin |
|
ISO |
ClinVar Annotator: match by term: CAST-related condition | ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads |
OMIM ClinVar |
PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:5,707,633...5,817,213
|
|
G |
Erap1 |
endoplasmic reticulum aminopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: CAST-related condition | ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads |
ClinVar |
PMID:3527073 PMID:25683118 PMID:28492532 |
|
NCBI chr 2:5,666,337...5,705,256
|
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO ISS |
ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12219090 PMID:12920575 PMID:14757865 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:19036739 PMID:19282774 PMID:19449419 PMID:19734457 PMID:20803643 PMID:21045959 PMID:22440537 PMID:22488974 PMID:23949966 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:25741868 PMID:28492532 PMID:29453417 PMID:31468312 More...
|
|
NCBI chr13:104,672,179...104,691,386
|
|
G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO ISS |
ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650 |
ClinVar MouseDO |
|
|
NCBI chr11:50,591,926...50,614,169
|
|
|
G |
Fam20c |
FAM20C, golgi associated secretory pathway kinase |
|
ISO |
ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia CTD Direct Evidence: marker/mechanism DNA:deletion, snps, missense mutations:multiple (human) |
OMIM ClinVar CTD RGD |
PMID:2020859 PMID:9536098 PMID:12868469 PMID:14564151 PMID:17576681 PMID:17924334 PMID:19250384 PMID:20825432 PMID:22582013 PMID:24033266 PMID:25026495 PMID:25741868 PMID:27862258 PMID:28492532 PMID:32093234 PMID:32299476 PMID:32337609 PMID:17924334 More...
|
RGD:11560486 |
NCBI chr12:20,940,654...20,999,072
|
|
|
G |
Tp63 |
tumor protein p63 |
|
ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate | ClinVar Annotator: match by term: Rapp-Hodgkin syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 PMID:12525544 PMID:12766194 PMID:12939657 PMID:15200513 PMID:15748593 PMID:15983386 PMID:16740912 PMID:17576681 PMID:17609671 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19903181 PMID:20543567 PMID:20556892 PMID:21078104 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24309930 PMID:25741868 PMID:28293528 PMID:28492532 PMID:29620206 PMID:29956718 PMID:32476291 More...
|
|
NCBI chr11:88,343,647...88,554,543
|
|
|
G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12239465 |
|
NCBI chr14:17,891,564...17,907,043
|
|
G |
Apcs |
amyloid P component, serum |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr13:85,373,219...85,374,195
|
|
G |
C1qa |
complement C1q A chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 5:154,417,086...154,419,933
|
|
G |
C1qc |
complement C1q C chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 5:154,410,845...154,414,208
|
|
G |
Cav1 |
caveolin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 4:46,606,538...46,639,616
|
|
G |
Celf2 |
CUGBP, Elav-like family member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr17:70,904,462...71,729,072
|
|
G |
Cfhr1 |
complement factor H-related 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr13:51,395,583...51,410,571
|
|
G |
Cfp |
complement factor properdin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr X:1,162,014...1,167,576
|
|
G |
Clu |
clusterin |
|
ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chr15:40,161,068...40,200,315
|
|
G |
Cops5 |
COP9 signalosome subunit 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 5:13,975,198...13,993,391
|
|
G |
Crp |
C-reactive protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr13:87,694,062...87,695,978
|
|
G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11321886 |
|
NCBI chr10:84,157,485...84,159,860
|
|
G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 8:129,517,576...129,544,661
|
|
G |
Cul1 |
cullin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 4:77,551,781...77,634,210
|
|
G |
Cul4a |
cullin 4A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr16:83,086,688...83,124,503
|
|
G |
Derl1 |
derlin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 7:89,404,413...89,427,095
|
|
G |
Elmo1 |
engulfment and cell motility 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr17:44,286,495...44,822,668
|
|
G |
Ep300 |
E1A binding protein p300 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 7:114,987,857...115,058,652
|
|
G |
Fbxo6 |
F-box protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 5:163,859,909...163,865,693
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
|
ISO |
|
RGD |
PMID:28689274 |
RGD:14700974 |
NCBI chr 2:198,338,005...198,346,007
|
|
G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
|
NCBI chr 7:55,789,180...55,793,216
|
|
G |
Lbp |
lipopolysaccharide binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 3:146,953,889...146,981,032
|
|
G |
Lrg1 |
leucine-rich alpha-2-glycoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
|
NCBI chr 9:947,516...949,773
|
|
G |
Mif |
macrophage migration inhibitory factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9372356 |
|
NCBI chr20:12,790,919...12,791,784
|
|
G |
Mir18a |
microRNA 18a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr15:92,180,765...92,180,860
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G |
Nedd4 |
NEDD4 E3 ubiquitin protein ligase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 8:82,264,751...82,349,642
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G |
Nfkbiz |
NFKB inhibitor zeta |
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ISS |
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MouseDO |
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NCBI chr11:58,251,720...58,279,767
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G |
Nos2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10620138 |
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NCBI chr10:64,313,335...64,349,221
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G |
Nucb1 |
nucleobindin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 1:105,104,793...105,135,730
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G |
Orm1 |
orosomucoid 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 5:81,788,509...81,791,661
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr13:94,839,484...94,871,295
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G |
Pml |
PML nuclear body scaffold |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 8:58,627,347...58,661,927
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G |
Pros1 |
protein S |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr11:13,676,310...13,757,858
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G |
Psmc5 |
proteasome 26S subunit, ATPase 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr10:91,187,763...91,193,697
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G |
Ptger3 |
prostaglandin E receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21966456 |
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NCBI chr 2:246,606,131...246,750,970
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G |
Ptgis |
prostaglandin I2 synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 3:155,928,564...155,964,228
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr15:54,780,858...54,911,989
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G |
Rbx1 |
ring-box 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 7:114,870,893...114,881,194
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism:cds:HLA-DQB1*0601 (human) |
RGD |
PMID:8841298 |
RGD:7483570 |
NCBI chr20:4,598,475...4,604,118
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G |
RT1-CE13 |
RT1 class I, locus CE13 |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese) DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) |
RGD |
PMID:19018717 PMID:23692434 |
RGD:7364874, RGD:7365090 |
NCBI chr20:3,314,491...3,322,815
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G |
RT1-CE16 |
RT1 class I, locus CE16 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to |
CTD OMIM ClinVar |
PMID:16538176 PMID:21428769 PMID:23588310 |
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NCBI chr20:3,261,656...3,265,548
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:blister: |
RGD |
PMID:9852250 |
RGD:7401184 |
NCBI chr20:3,626,685...3,629,303
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G |
Vcp |
valosin-containing protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25811541 |
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NCBI chr 5:62,005,984...62,025,387
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G |
Vwf |
von Willebrand factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34142820 |
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NCBI chr 4:160,042,900...160,177,757
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G |
Cat |
catalase |
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IEP |
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RGD |
PMID:10569634 |
RGD:5130878 |
NCBI chr 3:110,297,340...110,329,526
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G |
Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12085204 |
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NCBI chr10:84,157,485...84,159,860
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G |
Cyb5a |
cytochrome b5 type A |
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ISO |
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RGD |
PMID:10406239 |
RGD:11352692 |
NCBI chr18:78,213,067...78,245,677
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G |
Nbn |
nibrin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24594932 |
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NCBI chr 5:34,256,678...34,291,163
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24594932 |
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NCBI chr 1:89,268,721...89,296,619
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition |
OMIM ClinVar |
PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 |
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NCBI chr 8:5,095,705...5,166,808
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G |
C13h1orf74 |
similar to human chromosome 1 open reading frame 74 |
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ISO |
ClinVar Annotator: match by term: Van der Woude syndrome 1 |
ClinVar |
PMID:14618417 |
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NCBI chr13:107,221,285...107,224,063
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G |
Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
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ISO |
ClinVar Annotator: match by term: Van der Woude syndrome 1 |
ClinVar |
PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 |
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NCBI chr13:66,574,659...67,063,443
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G |
Grhl3 |
grainyhead-like transcription factor 3 |
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ISS ISO |
OMIM:119300 | OMIM:606713 ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 |
MouseDO ClinVar |
PMID:25741868 PMID:36901693 |
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NCBI chr 5:147,774,161...147,806,291
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G |
Irf6 |
interferon regulatory factor 6 |
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ISO ISS |
ClinVar Annotator: match by term: Lip pit syndrome | ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 OMIM:119300 | OMIM:606713 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12219090 PMID:12920575 PMID:14618417 PMID:14640121 PMID:14757865 PMID:15317890 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:16211254 PMID:16998136 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18506368 PMID:18617879 PMID:18813858 PMID:19036739 PMID:19282774 PMID:19449419 PMID:19623037 PMID:19734457 PMID:19842205 PMID:20184620 PMID:20301581 PMID:21045959 PMID:21468557 PMID:22440537 PMID:22488974 PMID:23154523 PMID:23949966 PMID:24936515 PMID:25326635 PMID:25547932 PMID:25548624 PMID:25741868 PMID:25784454 PMID:27243668 PMID:28492532 PMID:28945736 PMID:29115498 PMID:29453417 PMID:30689861 PMID:31468312 PMID:36901693 More...
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NCBI chr13:104,672,179...104,691,386
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G |
Cfap57 |
cilia and flagella associated protein 57 |
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ISO |
ClinVar Annotator: match by term: Van der Woude syndrome 2 |
ClinVar |
PMID:21574244 PMID:25741868 |
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NCBI chr 5:132,074,404...132,148,102
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G |
Grhl3 |
grainyhead-like transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GRHL3-related condition | ClinVar Annotator: match by term: Van der Woude syndrome 2 |
OMIM CTD ClinVar |
PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 PMID:24033266 PMID:24360809 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:147,774,161...147,806,291
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G |
Stpg1 |
sperm-tail PG-rich repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Van der Woude syndrome 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:147,717,084...147,769,792
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G |
Ehmt2 |
euchromatic histone lysine methyltransferase 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26418342 |
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NCBI chr20:3,924,263...3,941,238
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G |
Ripk3 |
receptor-interacting serine-threonine kinase 3 |
ameliorates |
ISO |
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RGD |
PMID:25326752 |
RGD:127229916 |
NCBI chr15:33,253,071...33,262,025
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G |
Stat2 |
signal transducer and activator of transcription 2 |
exacerbates |
ISO |
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RGD |
PMID:32759968 |
RGD:41789624 |
NCBI chr 7:702,565...718,349
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G |
Tbx22 |
T-box transcription factor 22 |
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ISO ISS |
OMIM:303400 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft palate X-linked | ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked |
OMIM MouseDO CTD ClinVar |
PMID:839509 PMID:14729838 PMID:16247549 PMID:17868388 PMID:22784330 PMID:25741868 PMID:28492532 More...
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NCBI chr X:76,796,398...76,847,447
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