RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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FOXH1 |
forkhead box H1 |
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ISO |
OMIM:202650 |
MouseDO |
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NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319
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PRRX1 |
paired related homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Agnathia-otocephaly complex | ClinVar Annotator: match by term: PRRX1-related condition |
OMIM ClinVar |
PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 PMID:28492532 More...
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NCBI chr 7:28,065,570...28,138,734
Ensembl chr 7:28,068,711...28,138,787
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TRAPPC10 |
trafficking protein particle complex subunit 10 |
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ISO |
OMIM:202650 |
MouseDO |
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NCBI chr31:37,910,480...37,999,559
Ensembl chr31:37,910,322...37,997,188
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TP63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum |
ClinVar |
PMID:25741868 |
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NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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TP63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
OMIM ClinVar |
PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:16740912 PMID:17576681 PMID:19239083 PMID:19353588 PMID:19793345 PMID:21615690 PMID:24309930 PMID:25741868 PMID:28492532 More...
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NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 |
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NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
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ATP7A |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: Au-Kline syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:60,203,336...60,356,525
Ensembl chr X:60,203,270...60,352,869
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CREBBP |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
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HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
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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...
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NCBI chr 1:75,499,334...75,511,525
Ensembl chr 1:75,499,393...75,511,425
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MED13L |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512
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VHL |
von Hippel-Lindau tumor suppressor |
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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...
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NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
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ANKH |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
OMIM ClinVar |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31130284 More...
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NCBI chr 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464
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OTULIN |
OTU deubiquitinase with linear linkage specificity |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
ClinVar |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:28492532 PMID:31130284 More...
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NCBI chr34:119,307...159,419
Ensembl chr34:122,274...159,394
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GJA1 |
gap junction protein alpha 1 |
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ISO |
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 |
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NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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BCHE |
butyrylcholinesterase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16884476 |
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NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
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FOXE1 |
forkhead box E1 |
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ISO |
ClinVar Annotator: match by term: Bamforth-Lazarus syndrome |
OMIM ClinVar |
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 PMID:24219130 PMID:25381600 PMID:25741868 PMID:28444304 PMID:28492532 PMID:32428920 PMID:35963604 More...
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NCBI chr11:55,143,389...55,145,954
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RIPK4 |
receptor interacting serine/threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE |
OMIM ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
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NCBI chr31:36,168,172...36,196,600
Ensembl chr31:36,169,530...36,196,600
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CHUK |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 |
OMIM ClinVar |
PMID:25691407 |
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NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512
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MED25 |
mediator complex subunit 25 |
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ISO |
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome |
OMIM ClinVar |
PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:32816121 PMID:37091313 More...
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NCBI chr 1:106,723,737...106,740,077
Ensembl chr 1:106,727,141...106,740,032
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HOXC13 |
homeobox C13 |
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ISO |
Ectodermal dysplasia-9 |
OMIA |
PMID:28011715 |
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NCBI chr27:1,315,532...1,323,470
Ensembl chr27:1,273,131...1,323,370
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PLEKHA5 |
pleckstrin homology domain containing A5 |
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ISO |
ClinVar Annotator: match by term: Bilateral cleft lip |
ClinVar |
PMID:25741868 |
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NCBI chr27:27,777,104...28,023,875
Ensembl chr27:27,777,326...28,023,987
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SOX3 |
SRY-box transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Bilateral cleft lip |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr X:110,361,354...110,363,458
Ensembl chr X:110,362,124...110,363,458
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TMCO1 |
transmembrane and coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Bilateral cleft lip |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
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NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283
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COL1A1 |
collagen type I alpha 1 chain |
treatment |
ISO |
associated with Multiple Myeloma |
RGD |
PMID:21396799 |
RGD:11041182 |
NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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CDH1 |
cadherin 1 |
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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...
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NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
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CTNND1 |
catenin delta 1 |
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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...
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NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216
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KIF15 |
kinesin family member 15 |
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ISO |
ClinVar Annotator: match by term: Braddock-carey syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28150392 |
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NCBI chr20:43,454,025...43,532,361
Ensembl chr20:43,359,206...43,532,219
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MYMK |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE |
ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 PMID:32528171 PMID:32573669 More...
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NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007
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MYMK |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 |
OMIM ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 PMID:32528171 PMID:32573669 More...
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NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007
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MYMX |
myomixer, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 |
OMIM ClinVar |
PMID:35642635 |
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NCBI chr12:12,626,482...12,630,058
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KYNU |
kynureninase |
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ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME |
ClinVar |
PMID:25741868 PMID:31923704 PMID:33942433 |
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NCBI chr19:45,022,450...45,150,977
Ensembl chr19:45,022,072...45,149,339
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TGDS |
TDP-glucose 4,6-dehydratase |
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ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition |
OMIM ClinVar |
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 PMID:26366375 PMID:28422407 PMID:28492532 PMID:31769200 PMID:31833187 More...
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NCBI chr22:45,384,119...45,400,128
Ensembl chr22:45,384,412...45,400,314
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RIC1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
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ISO |
ClinVar Annotator: match by term: Catifa syndrome | ClinVar Annotator: match by term: RIC1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27878435 PMID:31932796 |
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NCBI chr 1:93,735,158...93,843,331
Ensembl chr 1:93,735,077...93,841,401
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CCM2 |
CCM2 scaffold protein |
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ISO |
ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
OMIM ClinVar |
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:17277691 PMID:17576681 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:19475721 PMID:20419355 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:29758562 PMID:30161288 PMID:31937560 PMID:32860008 PMID:35307828 More...
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NCBI chr16:10,347,801...10,392,560
Ensembl chr16:10,347,145...10,394,594
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NACAD |
NAC alpha domain containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
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NCBI chr16:10,393,993...10,394,424
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PDCD10 |
programmed cell death 10 |
onset exacerbates |
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 DNA:mutations:multiple (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 PMID:17041941 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 PMID:25640679 PMID:25741868 PMID:26246098 PMID:26896283 PMID:28492532 PMID:30161288 More...
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RGD:401827114 RGD:401827115 |
NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445
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SERPINI1 |
serpin family I member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 |
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NCBI chr34:32,553,876...32,624,708
Ensembl chr34:32,553,902...32,624,526
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SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
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ISO |
ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome | ClinVar Annotator: match by term: SNRPB-related condition |
OMIM ClinVar |
PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 PMID:28492532 More...
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NCBI chr24:18,673,975...18,683,315
Ensembl chr24:18,674,039...18,683,229
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ADD1 |
adducin 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
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ATP5ME |
ATP synthase membrane subunit e |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr X:108,285,208...108,285,423
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CPLX1 |
complexin 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 3:91,635,953...91,658,084
Ensembl chr 3:91,638,515...91,656,737
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CTBP1 |
C-terminal binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 3:91,385,733...91,400,252
Ensembl chr 3:91,379,049...91,400,656
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DGKQ |
diacylglycerol kinase theta |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 3:91,544,350...91,554,494
Ensembl chr 3:91,544,219...91,554,565
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DOK7 |
docking protein 7 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 3:60,873,298...60,897,047
Ensembl chr 3:60,869,206...60,897,318
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FAM193A |
family with sequence similarity 193 member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 3:61,543,738...61,674,729
Ensembl chr 3:61,544,354...61,644,322
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FAM53A |
family with sequence similarity 53 member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 3:62,410,101...62,441,189
Ensembl chr 3:62,424,613...62,447,948
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FGFR3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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FGFRL1 |
fibroblast growth factor receptor like 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 3:91,499,088...91,508,982
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GAK |
cyclin G associated kinase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 3:91,575,537...91,630,715
Ensembl chr 3:91,574,751...91,630,663
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GRK4 |
G protein-coupled receptor kinase 4 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,233,066...61,331,094
Ensembl chr 3:61,079,904...61,330,290
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G |
HAUS3 |
HAUS augmin like complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,946,289...61,961,589
Ensembl chr 3:61,946,838...61,960,473
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G |
HGFAC |
HGF activator |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:60,906,839...60,916,879
Ensembl chr 3:60,906,844...60,915,280
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|
G |
HTT |
huntingtin |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,076,934...61,221,462
Ensembl chr 3:61,079,904...61,330,290
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|
G |
IDUA |
alpha-L-iduronidase |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:91,517,225...91,534,593
Ensembl chr 3:91,522,035...91,534,593
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|
G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136
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|
G |
MAEA |
macrophage erythroblast attacher, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,679,084...62,718,154
Ensembl chr 3:62,682,538...62,718,071
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|
G |
MFSD10 |
major facilitator superfamily domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,352,047...61,357,393
Ensembl chr 3:61,352,109...61,355,997
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|
G |
MSANTD1 |
Myb/SANT DNA binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,058,993...61,076,816
Ensembl chr 3:61,064,335...61,075,072
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G |
MXD4 |
MAX dimerization protein 4 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,927,722...61,941,780
Ensembl chr 3:61,927,816...61,938,638
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|
G |
MYL5 |
myosin light chain 5 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:91,738,518...91,743,619
Ensembl chr 3:91,738,523...91,744,297
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|
G |
NAT8L |
N-acetyltransferase 8 like |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,107,060...62,113,807
Ensembl chr 3:62,108,003...62,113,737
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|
G |
NELFA |
negative elongation factor complex member A |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,147,948...62,164,039
Ensembl chr 3:62,147,948...62,164,112
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G |
NICOL1 |
NELL2 interacting cell ontogeny regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,119,568...62,121,981
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|
G |
NKX1-1 |
NK1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,634,654...62,638,111
Ensembl chr 3:62,634,783...62,638,111
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|
G |
NOP14 |
NOP14 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,330,987...61,350,596
Ensembl chr 3:61,330,981...61,350,596
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|
G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035
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|
G |
PCGF3 |
polycomb group ring finger 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:91,673,424...91,708,751
Ensembl chr 3:91,676,496...91,708,754
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|
G |
PDE6B |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372
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|
G |
PIGG |
phosphatidylinositol glycan anchor biosynthesis class G |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:91,811,681...91,849,530
Ensembl chr 3:91,812,875...91,849,446
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|
G |
POLN |
DNA polymerase nu |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,946,295...62,104,112
Ensembl chr 3:61,962,193...62,102,264
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|
G |
RGS12 |
regulator of G protein signaling 12 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:60,917,033...61,011,812
Ensembl chr 3:60,917,072...61,009,131
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|
G |
RIT1 |
Ras like without CAAX 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173
|
|
G |
RNF212 |
ring finger protein 212 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:91,453,856...91,483,674
Ensembl chr 3:91,453,367...91,474,547
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|
G |
RNF4 |
ring finger protein 4 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,721,752...61,759,797
Ensembl chr 3:61,723,124...61,759,730
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|
G |
SH3BP2 |
SH3 domain binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
OMIM ClinVar |
PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 PMID:16199547 PMID:16786512 PMID:17218256 PMID:17321449 PMID:17576681 PMID:18596838 PMID:19017279 PMID:19576004 PMID:20002873 PMID:20117257 PMID:21045962 PMID:21794028 PMID:22153076 PMID:22153077 PMID:22640988 PMID:22795151 PMID:23298620 PMID:24033266 PMID:24382142 PMID:24608212 PMID:24916406 PMID:25144740 PMID:25741868 PMID:26064398 PMID:27272835 PMID:28492532 PMID:28644570 PMID:28904407 PMID:30236129 PMID:34573280 More...
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|
NCBI chr 3:61,454,945...61,488,951
Ensembl chr 3:61,358,162...61,474,830
|
|
G |
SLBP |
stem-loop histone mRNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,386,982...62,401,541
Ensembl chr 3:62,386,977...62,400,891
|
|
G |
SLC26A1 |
solute carrier family 26 member 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115
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|
G |
SLC49A3 |
solute carrier family 49 member 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:91,732,589...91,738,161
Ensembl chr 3:91,731,437...91,737,753
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|
G |
SPON2 |
spondin 2 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:91,411,245...91,421,245
|
|
G |
TACC3 |
transforming acidic coiled-coil containing protein 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024
|
|
G |
TMEM129 |
transmembrane protein 129, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,381,240...62,386,381
Ensembl chr 3:62,381,411...62,385,349
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|
G |
TMEM175 |
transmembrane protein 175 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:91,554,001...91,576,845
Ensembl chr 3:91,553,778...91,670,930
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|
G |
TNIP2 |
TNFAIP3 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,511,676...61,535,480
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|
G |
UVSSA |
UV stimulated scaffold protein A |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:62,647,992...62,674,830
Ensembl chr 3:62,649,207...62,674,884
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|
G |
ZFYVE28 |
zinc finger FYVE-type containing 28 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:61,786,160...61,919,668
Ensembl chr 3:61,805,284...61,918,602
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|
|
G |
ABCA4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20436469 |
|
NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
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|
G |
ADAMTS20 |
ADAM metallopeptidase with thrombospondin type 1 motif 20 |
|
IAGP |
Cleft lip with or without cleft palate, ADAMTS20-related |
OMIA |
PMID:13875838 PMID:25798845 PMID:28738009 PMID:28887848 PMID:34838248 |
|
NCBI chr27:10,492,587...10,655,681
Ensembl chr27:10,492,301...10,675,655
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|
G |
ARHGAP29 |
Rho GTPase activating protein 29 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:54,964,666...55,027,471
Ensembl chr 6:54,959,542...55,024,104
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|
G |
BHMT2 |
betaine--homocysteine S-methyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 3:27,775,779...27,804,603
Ensembl chr 3:27,776,084...27,789,960
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|
G |
BMP4 |
bone morphogenetic protein 4 |
susceptibility |
ISO |
DNA:SNP: : rs17563 (p.V152A)(human) DNA:polymorphism:cds:p.V152A(human) ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant |
RGD ClinVar |
PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 PMID:25741868 PMID:28492532 More...
|
RGD:13442495 RGD:13442497 |
NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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|
G |
CDH1 |
cadherin 1 |
susceptibility |
ISO |
DNA:splice-site mutation: :531+2T>A (human) ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
RGD ClinVar |
PMID:15831593 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 PMID:30311375 PMID:36436516 More...
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RGD:1599548 |
NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
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|
G |
CTNND1 |
catenin delta 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:25741868 PMID:29805042 |
|
NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216
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|
G |
ESRP2 |
epithelial splicing regulatory protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
|
NCBI chr 5:81,287,330...81,297,533
Ensembl chr 5:81,287,425...81,295,353
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|
G |
FGF1 |
fibroblast growth factor 1 |
|
ISO |
DNA:SNP: :rs34010 (human) |
RGD |
PMID:24613087 |
RGD:11567264 |
NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619
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|
G |
FGF10 |
fibroblast growth factor 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
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G |
FGF2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
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G |
FGF3 |
fibroblast growth factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
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|
G |
FGF7 |
fibroblast growth factor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
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G |
FGF8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
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|
G |
FGF9 |
fibroblast growth factor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
DNA:SNP: :rs13317 (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:17963255 PMID:24613087 |
RGD:11567264 |
NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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G |
GDF6 |
growth differentiation factor 6 |
|
ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174 Ensembl chr29:40,676,851...40,694,174
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G |
IRF6 |
interferon regulatory factor 6 |
|
ISO |
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661
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G |
KIF7 |
kinesin family member 7 |
|
ISO |
DNA:SNPs:introns:rs4932238,rs4932240(human) |
RGD |
PMID:26602496 |
RGD:11553833 |
NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
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|
G |
MAFB |
MAF bZIP transcription factor B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20436469 |
|
NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948
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|
G |
MSX1 |
msh homeobox 1 |
|
ISO |
DNA:mutations, SNPs:multiple (human) |
RGD |
PMID:12807959 |
RGD:5132609 |
NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
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G |
MTHFD1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
no_association susceptibility |
ISO |
DNA:SNP:cds:1958G>A(human) |
RGD |
PMID:18261183 PMID:25129243 |
RGD:12910961 RGD:12910962 |
NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453
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G |
MTHFR |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:polymorphism: :c.677C>T(human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16470725 PMID:27387868 |
RGD:11565179 |
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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G |
MTHFS |
methenyltetrahydrofolate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 3:57,480,935...57,514,836
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|
G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
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|
G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859337 |
|
NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
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G |
NECTIN1 |
nectin cell adhesion molecule 1 |
|
ISO |
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X |
RGD |
PMID:10932188 |
RGD:1599795 |
NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060
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G |
NOG |
noggin |
susceptibility |
ISO |
DNA:SNP: :rs227731(human) DNA:SNP: : rs227727 (human) |
RGD |
PMID:25339627 PMID:25704602 |
RGD:11251786 RGD:12801482 |
NCBI chr 9:31,453,604...31,456,060
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G |
NOS3 |
nitric oxide synthase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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G |
NTN1 |
netrin 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate |
ClinVar |
|
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NCBI chr 5:33,654,723...33,825,832
Ensembl chr 5:33,637,142...33,825,899
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G |
PLEKHA5 |
pleckstrin homology domain containing A5 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
|
NCBI chr27:27,777,104...28,023,875
Ensembl chr27:27,777,326...28,023,987
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G |
PLEKHA7 |
pleckstrin homology domain containing A7 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
|
NCBI chr21:39,426,313...39,564,683
Ensembl chr21:39,427,401...39,645,585
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|
G |
POMT1 |
protein O-mannosyltransferase 1 |
|
ISO |
associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon |
RGD |
PMID:18640039 |
RGD:11532685 |
NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
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G |
PTCH1 |
patched 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16405370 |
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NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
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G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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ISO |
ClinVar Annotator: match by term: Cleft lip |
ClinVar |
PMID:25741868 |
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NCBI chr 1:95,209,122...95,280,956
Ensembl chr 1:95,088,745...95,280,151
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G |
SDC2 |
syndecan 2 |
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ISO |
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RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr29:40,939,498...41,026,694
Ensembl chr29:40,939,257...41,024,357
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G |
SLC19A1 |
solute carrier family 19 member 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP: :80G>A (human) |
CTD RGD |
PMID:18797703 PMID:21254359 |
RGD:11565176 |
NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
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G |
SPRY2 |
sprouty RTK signaling antagonist 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17576140 |
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NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878
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G |
SUMO1 |
small ubiquitin like modifier 1 |
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ISO |
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant |
ClinVar |
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NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754
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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 chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
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G |
TP63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant |
ClinVar |
PMID:25741868 |
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NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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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 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747
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G |
ZNF462 |
zinc finger protein 462 |
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ISO |
ClinVar Annotator: match by term: Cleft lip |
ClinVar |
PMID:25741868 |
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NCBI chr11:62,398,415...62,535,289
Ensembl chr11:62,450,060...62,535,121
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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 chr20:39,029,426...39,034,451
Ensembl chr20:39,031,735...39,034,130
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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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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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 |
OMIM ClinVar |
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 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060
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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:49,426,228...49,449,448
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G |
B9D2 |
B9 domain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450421 |
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NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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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 3:27,775,779...27,804,603
Ensembl chr 3:27,776,084...27,789,960
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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 chr11:36,511,581...36,950,111
Ensembl chr11:36,514,166...36,950,679
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G |
CASK |
calcium/calmodulin dependent serine protein kinase |
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ISO |
DNA:insertion CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:9787075 |
RGD:11576291 |
NCBI chr X:35,939,117...36,296,438
Ensembl chr X:35,940,647...36,297,014
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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 chr 5:82,253,496...82,313,765
Ensembl chr 5:82,255,617...82,313,168
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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 chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512
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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 chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
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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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
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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 chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547
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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 chr14:35,468,080...35,784,621
Ensembl chr14:35,468,154...35,784,806
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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 chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
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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 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
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G |
FGF2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
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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 chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
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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 chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
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G |
FGF8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
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G |
FGF9 |
fibroblast growth factor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 PMID:29526646 |
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NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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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:122,058,303...122,083,467
Ensembl chr X:122,061,455...122,083,203
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G |
FLNB |
filamin B |
susceptibility |
ISO |
DNA:SNPs:: |
RGD |
PMID:20634891 |
RGD:12791026 |
NCBI chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275
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G |
FZD4 |
frizzled class receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
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NCBI chr21:12,699,886...12,709,132
Ensembl chr21:12,699,774...12,724,923
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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 chr 7:65,932,114...65,962,574
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G |
GDF6 |
growth differentiation factor 6 |
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ISO |
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RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174 Ensembl chr29:40,676,851...40,694,174
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G |
GLI3 |
GLI family zinc finger 3 |
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ISO |
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RGD |
PMID:18816854 |
RGD:12738224 |
NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132
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G |
GNB1 |
G protein subunit beta 1 |
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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 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
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G |
GOLGB1 |
golgin B1 |
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ISO |
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MouseDO |
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NCBI chr33:24,927,631...25,025,187
Ensembl chr33:24,928,729...25,025,090
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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 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496
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G |
INPP1 |
inositol polyphosphate-1-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
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NCBI chr37:975,286...987,570
Ensembl chr37:976,559...985,772
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G |
INPP5E |
inositol polyphosphate-5-phosphatase E |
|
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 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191
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G |
IRF6 |
interferon regulatory factor 6 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:12920575 PMID:25741868 |
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NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661
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G |
KIF7 |
kinesin family member 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21552264 |
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NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
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G |
LOC403934 |
cell division cycle 42 |
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ISO |
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MouseDO |
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NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211
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G |
MEIS2 |
Meis homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 |
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NCBI chr30:4,422,451...4,627,277
Ensembl chr30:4,422,440...4,741,335
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G |
MNT |
MAX network transcriptional repressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15028671 |
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NCBI chr 9:46,466,879...46,482,467
Ensembl chr 9:46,469,426...46,482,705
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G |
MSX1 |
msh homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations, SNPs:multiple (human) |
CTD RGD |
PMID:12163415 PMID:12701100 PMID:12807959 PMID:15301380 |
RGD:5132609 |
NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
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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 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453
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G |
MTHFS |
methenyltetrahydrofolate synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 3:57,480,935...57,514,836
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G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
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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 chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
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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 chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
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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 chr 9:36,383,777...36,429,730
Ensembl chr 9:36,349,191...36,428,091
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G |
NECTIN1 |
nectin cell adhesion molecule 1 |
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ISO |
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X |
RGD |
PMID:10932188 |
RGD:1599795 |
NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060
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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 chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072
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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 8:48,180,203...48,218,430
Ensembl chr 8:48,183,071...48,257,646
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G |
NOS3 |
nitric oxide synthase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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G |
PAX9 |
paired box 9 |
|
ISO |
|
RGD |
PMID:17097601 |
RGD:12801424 |
NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099
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G |
PDGFRA |
platelet derived growth factor receptor alpha |
|
ISO |
ClinVar Annotator: match by term: nonsyndromic cleft palate |
ClinVar |
PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 |
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NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
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G |
PGAP3 |
post-GPI attachment to proteins phospholipase 3 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:30345601 |
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NCBI chr 9:22,793,854...22,806,321
Ensembl chr 9:22,793,792...22,806,321
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G |
PIGW |
phosphatidylinositol glycan anchor biosynthesis class W |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:36,419,807...36,424,596
Ensembl chr 9:36,421,216...36,424,218
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G |
PITX2 |
paired like homeodomain 2 |
|
ISO |
|
RGD |
PMID:12975342 |
RGD:12910559 |
NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
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G |
PRMT1 |
protein arginine methyltransferase 1 |
|
ISO |
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MouseDO |
|
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NCBI chr 1:106,849,864...106,859,896
Ensembl chr 1:106,849,864...106,874,075
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G |
PTCH1 |
patched 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16405370 |
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NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
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G |
RARG |
retinoic acid receptor gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21807577 |
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NCBI chr27:1,958,432...1,978,471
Ensembl chr27:1,958,204...1,978,476
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G |
RERE |
arginine-glutamic acid dipeptide repeats |
|
ISO |
|
RGD |
PMID:33772547 |
RGD:329849004 |
NCBI chr 5:61,868,288...62,249,009
Ensembl chr 5:61,868,685...62,215,973
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G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
susceptibility |
ISO |
DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) |
RGD |
PMID:22490406 |
RGD:11535950 |
NCBI chr 1:95,209,122...95,280,956
Ensembl chr 1:95,088,745...95,280,151
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G |
RYK |
receptor like tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10932185 |
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NCBI chr23:30,968,105...31,051,353
Ensembl chr23:30,968,231...31,051,605
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G |
SATB2 |
SATB homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:17377962 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 PMID:28492532 PMID:29023086 More...
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NCBI chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149
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G |
SDC2 |
syndecan 2 |
|
ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr29:40,939,498...41,026,694
Ensembl chr29:40,939,257...41,024,357
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SHH |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:17097601 |
RGD:12801424 |
NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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SHOX2 |
SHOX homeobox 2 |
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ISO |
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RGD |
PMID:16141225 |
RGD:12859081 |
NCBI chr23:51,484,696...51,492,586
Ensembl chr23:51,484,421...51,492,566
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G |
SIM2 |
SIM bHLH transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12203729 |
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NCBI chr31:31,879,483...31,929,531
Ensembl chr31:31,879,360...31,930,359
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G |
SIX2 |
SIX homeobox 2 |
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ISO |
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MouseDO |
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NCBI chr10:47,399,152...47,403,503
Ensembl chr10:47,400,034...47,403,509
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G |
SLC19A1 |
solute carrier family 19 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:22426308 PMID:25741868 PMID:28973083 PMID:33461977 |
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NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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G |
SOX3 |
SRY-box transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr X:110,361,354...110,363,458
Ensembl chr X:110,362,124...110,363,458
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G |
SPECC1L |
sperm antigen with calponin homology and coiled-coil domains 1 like |
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ISO |
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MouseDO |
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NCBI chr26:27,994,278...28,127,383
Ensembl chr26:28,025,987...28,125,695
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G |
SPRY2 |
sprouty RTK signaling antagonist 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17576140 |
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NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878
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G |
SUMO1 |
small ubiquitin like modifier 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16990542 |
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NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754
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G |
TBX1 |
T-box transcription factor 1 |
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ISO |
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RGD |
PMID:25556186 PMID:30121012 |
RGD:155631306 RGD:155641231 |
NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784
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G |
TENM4 |
teneurin transmembrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
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NCBI chr21:17,819,846...20,234,096
Ensembl chr21:19,732,991...20,230,305
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G |
TGFB2 |
transforming growth factor beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450421 |
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NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
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G |
TGFB3 |
transforming growth factor beta 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:7493022 PMID:17097601 PMID:26971374 |
RGD:12801424 |
NCBI chr 8:48,920,874...48,946,037
Ensembl chr 8:48,923,423...48,945,816
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G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
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NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283
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G |
TNFRSF13B |
TNF receptor superfamily member 13B |
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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 chr 5:42,448,976...42,483,792
Ensembl chr 5:42,449,053...42,482,740
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TP63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11462173 |
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NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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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 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747
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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 |
OMIM ClinVar |
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 chr30:4,422,451...4,627,277
Ensembl chr30:4,422,440...4,741,335
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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 chr21:22,051,140...22,059,714
Ensembl chr21:22,051,920...22,057,632
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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 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632
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G |
BMP4 |
bone morphogenetic protein 4 |
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ISO |
OMIM:119550 |
MouseDO |
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NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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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 chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807
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G |
TGFBR2 |
transforming growth factor beta receptor 2 |
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ISO |
OMIM:119570 |
MouseDO |
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NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
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G |
ARID1A |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
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G |
ARID1B |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
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G |
KDM8 |
lysine demethylase 8 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:19,366,813...19,390,082
Ensembl chr 6:19,366,331...19,380,257
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G |
SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability |
ClinVar |
PMID:18414213 PMID:28512736 |
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NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:26744134 PMID:27701467 PMID:28492532 PMID:28875981 PMID:29641532 PMID:29758562 PMID:33680622 More...
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NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22726846 PMID:23906836 PMID:24933152 PMID:25168959 PMID:25326635 PMID:25741868 PMID:26364901 PMID:28492532 PMID:29907796 PMID:31172278 PMID:31273213 PMID:31759698 PMID:34906496 More...
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NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
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G |
SMARCE1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22426308 |
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NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442
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G |
SOX11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 PMID:26543203 |
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G |
ARID1A |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 |
ClinVar |
PMID:22426308 PMID:25168959 PMID:25741868 PMID:28492532 |
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NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
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G |
ARID1B |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 |
OMIM ClinVar |
PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22405089 PMID:22426308 PMID:22426309 PMID:23160955 PMID:23815551 PMID:23906836 PMID:23929686 PMID:24033266 PMID:24674232 PMID:25217958 PMID:25249037 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25473036 PMID:25533962 PMID:25674384 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26376624 PMID:26506440 PMID:26822237 PMID:27391121 PMID:27474218 PMID:27570168 PMID:27824329 PMID:28252636 PMID:28323383 PMID:28492532 PMID:28708303 PMID:28726809 PMID:29286531 PMID:29758562 PMID:30349098 PMID:30459321 PMID:30504930 PMID:30587507 PMID:31132234 PMID:31164752 PMID:31406558 PMID:31530938 PMID:31618753 PMID:32161024 PMID:32277047 PMID:32860008 PMID:33098347 PMID:33619735 PMID:33768696 PMID:34374989 PMID:34706719 PMID:35904121 More...
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NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
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ARSL |
arylsulfatase L |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:7720070 PMID:9863597 PMID:18348268 PMID:20301713 PMID:23470839 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29565423 PMID:34697415 More...
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NCBI chr X:1,536,341...1,558,782
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BICRA |
BRD4 interacting chromatin remodeling complex associated protein |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:108,344,245...108,427,133
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G |
DPF2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 PMID:29429572 |
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NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087
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G |
SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 |
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NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:27701467 PMID:28166811 PMID:28492532 More...
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NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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G |
SOX4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154
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G |
SOX4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 10 | ClinVar Annotator: match by term: SOX4-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30661772 PMID:35232796 PMID:35887114 PMID:36307859 PMID:36834931 More...
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NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154
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G |
SMARCD1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 11 |
OMIM ClinVar |
PMID:25741868 PMID:30879640 |
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NCBI chr27:4,624,962...4,640,229
Ensembl chr27:4,626,056...4,637,907
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G |
BICRA |
BRD4 interacting chromatin remodeling complex associated protein |
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ISO |
ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 |
OMIM ClinVar |
PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 |
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NCBI chr 1:108,344,245...108,427,133
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ACTN4 |
actinin alpha 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 More...
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NCBI chr 1:114,354,993...114,427,997
Ensembl chr 1:114,309,693...114,427,991
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G |
ARID1A |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
OMIM ClinVar |
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 PMID:23906836 PMID:23929686 PMID:24728327 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:28492532 PMID:30123105 PMID:32888375 PMID:34942405 PMID:35353340 PMID:36135330 PMID:36474027 More...
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NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
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HR |
HR lysine demethylase and nuclear receptor corepressor |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 |
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NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545
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G |
DERL3 |
derlin 3 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr26:28,688,307...28,690,400
Ensembl chr26:28,688,106...28,690,400
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G |
MMP11 |
matrix metallopeptidase 11 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr26:28,730,173...28,741,506
Ensembl chr26:28,727,332...28,741,415
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G |
SLC2A11 |
solute carrier family 2 member 11 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr26:28,652,173...28,673,817
Ensembl chr26:28,652,974...28,673,724
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G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar OMIM |
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 PMID:23906836 PMID:24993163 PMID:25168959 PMID:25169651 PMID:25326635 PMID:25462860 PMID:25741868 PMID:25981829 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670 PMID:29907796 PMID:31172278 PMID:31273213 PMID:31759698 PMID:33024572 PMID:34906496 More...
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NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:23637025 PMID:23929686 PMID:24448499 PMID:24658001 PMID:24658002 PMID:24658004 PMID:24728327 PMID:25058500 PMID:25168959 PMID:25169753 PMID:25231023 PMID:25275049 PMID:25326635 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26467025 PMID:26580448 PMID:26744134 PMID:26901136 PMID:27479843 PMID:27701467 PMID:27930734 PMID:28135719 PMID:28202063 PMID:28492532 PMID:28518168 PMID:28873162 PMID:28875981 PMID:28973083 PMID:29095814 PMID:29338072 PMID:29641532 PMID:29758562 PMID:30029678 PMID:30111351 PMID:30973214 PMID:31097095 PMID:31216405 PMID:31470906 PMID:31530938 PMID:31785789 PMID:31827798 PMID:31874108 PMID:32376391 PMID:32461654 PMID:32686290 PMID:33461977 PMID:33558524 PMID:33680622 PMID:34813034 PMID:34906459 PMID:35047860 PMID:35468861 PMID:35904974 PMID:35982159 PMID:36474027 PMID:37460928 PMID:38177409 More...
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NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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SMARCE1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 5 |
ClinVar OMIM |
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 |
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NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442
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ARID2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: ARID2-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 6 |
OMIM ClinVar |
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947 PMID:29698805 PMID:30838730 More...
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NCBI chr27:8,411,092...8,579,735
Ensembl chr27:8,412,377...8,579,882
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GIGYF1 |
GRB10 interacting GYF protein 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 6 |
ClinVar |
PMID:25741868 PMID:35917186 |
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NCBI chr 6:9,018,749...9,032,258
Ensembl chr 6:9,020,415...9,113,368
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DPF2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 7 | ClinVar Annotator: match by term: DPF2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 |
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NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087
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SMARCC2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition |
OMIM ClinVar |
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 PMID:30580808 PMID:33461977 PMID:37352859 More...
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NCBI chr10:481,504...502,914
Ensembl chr10:481,817...501,551
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SOX11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 | ClinVar Annotator: match by term: SOX11-related condition |
OMIM ClinVar |
PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 PMID:32860008 PMID:33086258 PMID:33785884 PMID:35341651 PMID:35642566 PMID:35938035 More...
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TUBB |
tubulin beta 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 chr12:512,738...517,154
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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 chr 7:54,845,121...55,003,372
Ensembl chr 7:54,847,522...55,001,836
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IGBP1 |
immunoglobulin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:54,558,515...54,612,029
Ensembl chr X:54,547,446...54,613,171
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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ISO |
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RGD |
PMID:19014358 |
RGD:10043096 |
NCBI chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160
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ANKH |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 |
MouseDO |
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NCBI chr 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464
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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 chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723
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TP63 |
tumor protein p63 |
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ISO |
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 ClinVar |
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 More...
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NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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TP63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome |
ClinVar |
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 More...
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NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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CDC73 |
cell division cycle 73 |
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ISO |
ClinVar Annotator: match by term: Cystic parathyroid adenoma |
ClinVar |
PMID:12434154 |
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NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111
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ALX1 |
ALX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: ALX1-related condition | ClinVar Annotator: match by term: Frontonasal dysplasia 3 |
OMIM ClinVar |
PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 |
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NCBI chr15:26,838,615...26,858,786
Ensembl chr15:26,834,670...26,858,803
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TOMM7 |
translocase of outer mitochondrial membrane 7 |
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ISO |
ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome |
ClinVar OMIM |
PMID:36282599 PMID:36299998 |
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NCBI chr14:36,523,707...36,532,180
Ensembl chr14:36,523,707...36,532,291
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ANO5 |
anoctamin 5 |
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ISO |
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions |
OMIM ClinVar |
PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 PMID:16199547 PMID:17008331 PMID:17132147 PMID:17576681 PMID:18414213 PMID:20096397 PMID:20692837 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23047743 PMID:23169617 PMID:23193613 PMID:23530687 PMID:23606453 PMID:23607914 PMID:23663589 PMID:23670307 PMID:23757202 PMID:24022920 PMID:24033266 PMID:24232312 PMID:24239059 PMID:24803842 PMID:24843231 PMID:25046369 PMID:25135358 PMID:25326637 PMID:25640679 PMID:25741868 PMID:25864073 PMID:25891276 PMID:26404900 PMID:26436962 PMID:26467025 PMID:26809617 PMID:26810512 PMID:26838040 PMID:26886200 PMID:26911675 PMID:27066573 PMID:27447704 PMID:27541832 PMID:27671536 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27884173 PMID:27911336 PMID:28176803 PMID:28187523 PMID:28489263 PMID:28492532 PMID:28888072 PMID:29124309 PMID:29382405 PMID:29431110 PMID:29792937 PMID:30564623 PMID:30919934 PMID:31127727 PMID:31341644 PMID:31350120 PMID:31353849 PMID:31395899 PMID:31475473 PMID:31517061 PMID:31561939 PMID:31589614 PMID:31791368 PMID:31862442 PMID:31931849 PMID:32112655 PMID:32367299 PMID:32399949 PMID:32403337 PMID:32419263 PMID:32528171 PMID:32819793 PMID:32925086 PMID:33023636 PMID:33400223 PMID:33496727 PMID:33963534 PMID:34008892 PMID:34106991 PMID:34426522 PMID:34440373 PMID:35239206 PMID:35563815 PMID:35628876 PMID:35741838 PMID:36157496 PMID:36292621 PMID:36352632 PMID:36913258 PMID:37526466 More...
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NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
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FANCF |
FA complementation group F |
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ISO |
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618
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SLC17A6 |
solute carrier family 17 member 6 |
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ISO |
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr21:44,015,161...44,056,286
Ensembl chr21:44,016,133...44,054,931
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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:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992
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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 chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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B3GALT2 |
beta-1,3-galactosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors |
ClinVar |
PMID:25637381 |
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NCBI chr38:5,868,822...5,876,539
Ensembl chr38:5,874,011...5,875,279
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G |
CDC73 |
cell division cycle 73 |
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ISO |
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors |
OMIM ClinVar |
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
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NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111
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SOBP |
sine oculis binding protein homolog |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition |
OMIM ClinVar |
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 |
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NCBI chr12:64,653,814...64,794,144
Ensembl chr12:64,664,288...64,794,358
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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 6:54,964,666...55,027,471
Ensembl chr 6:54,959,542...55,024,104
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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 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496
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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 chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
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G |
SATB2 |
SATB homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Isolated cleft palate |
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 chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149
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G |
OTX2 |
orthodenticle homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12183386 |
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NCBI chr 8:32,435,169...32,445,093
Ensembl chr 8:32,435,863...32,445,446
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G |
PCSK5 |
proprotein convertase subtilisin/kexin type 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18519639 |
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NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145
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G |
POLD1 |
DNA polymerase delta 1, catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770608 |
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NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
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G |
SMO |
smoothened, frizzled class receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16580747 |
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NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
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G |
TWSG1 |
twisted gastrulation BMP signaling modulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15013800 |
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NCBI chr 7:75,337,347...75,397,485
Ensembl chr 7:75,335,235...75,398,325
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PLAU |
plasminogen activator, urokinase |
severity |
ISO |
protein:increased expression:cyst, liquid (human) |
RGD |
PMID:20646237 |
RGD:6484123 |
NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
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G |
APC |
APC regulator of WNT signaling pathway |
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ISO |
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RGD |
PMID:17360473 |
RGD:1601201 |
NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
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G |
KIF5C |
kinesin family member 5C |
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ISO |
ClinVar Annotator: match by term: Jaw-winking syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:50,535,622...50,684,485
Ensembl chr19:50,535,456...50,668,738
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G |
MYH10 |
myosin heavy chain 10 |
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ISO |
ClinVar Annotator: match by term: Jaw-winking syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:33,239,800...33,360,459
Ensembl chr 5:33,241,266...33,360,934
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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 chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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G |
COL2A1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Kniest dysplasia |
OMIM ClinVar |
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: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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
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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 chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830
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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 chr 4:22,668,430...22,699,157
Ensembl chr 4:22,691,336...22,694,254
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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 chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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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 |
OMIM ClinVar |
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 chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275
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MMP2 |
matrix metallopeptidase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19070762 |
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NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12913070 |
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NCBI chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160
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POLD1 |
DNA polymerase delta 1, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome |
ClinVar OMIM |
PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 PMID:25559809 PMID:25583476 PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 PMID:26580448 PMID:26648449 PMID:28125075 PMID:28492532 PMID:29056344 PMID:29120461 PMID:30093976 PMID:30680046 PMID:30827058 PMID:31780696 PMID:32424176 PMID:32792570 PMID:32885271 PMID:33193653 PMID:33332384 PMID:33436027 PMID:35264596 More...
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NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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CTNNB1 |
catenin beta 1 |
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ISO |
mRNA:increased expression:small intestine |
RGD |
PMID:17259108 |
RGD:1599632 |
NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
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DEFB1 |
defensin beta 1 |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:11934727 |
RGD:4892265 |
NCBI chr16:58,871,018...58,881,592
Ensembl chr16:58,871,018...58,881,592
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DEFB4A |
defensin, beta 4A |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:11934727 |
RGD:4892265 |
NCBI chr16:58,953,916...58,956,407
Ensembl chr16:58,953,916...58,956,407
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MMP2 |
matrix metallopeptidase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19070762 |
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NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
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SMO |
smoothened, frizzled class receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
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BMP5 |
bone morphogenetic protein 5 |
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ISO |
OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 |
MouseDO |
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NCBI chr12:23,089,429...23,202,176
Ensembl chr12:23,089,459...23,202,348
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CDC45 |
cell division cycle 45 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr26:29,707,523...29,738,599
Ensembl chr26:29,707,564...29,739,252
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CDC6 |
cell division cycle 6 |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:22,303,549...22,317,046
Ensembl chr 9:22,226,719...22,316,963
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CDT1 |
chromatin licensing and DNA replication factor 1 |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome |
ClinVar |
PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:64,566,035...64,570,361
Ensembl chr 5:64,566,043...64,570,748
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DONSON |
DNA replication fork stabilization factor DONSON |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31407851 PMID:31784481 PMID:37638758 |
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NCBI chr31:28,192,338...28,209,512
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GMNN |
geminin DNA replication inhibitor |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome |
ClinVar |
PMID:11477602 PMID:14973488 PMID:26637980 |
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NCBI chr35:22,796,558...22,805,961
Ensembl chr35:22,798,386...22,805,959
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MCM3 |
minichromosome maintenance complex component 3 |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome |
ClinVar |
PMID:25741868 PMID:33654309 |
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NCBI chr12:19,924,017...19,945,576
Ensembl chr12:19,920,210...19,945,605
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MCM7 |
minichromosome maintenance complex component 7 |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome |
ClinVar |
PMID:25741868 PMID:33654309 |
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NCBI chr 6:9,492,654...9,499,846
Ensembl chr 6:9,492,573...9,499,855
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ORC1 |
origin recognition complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: EAR, PATELLA, SHORT STATURE SYNDROME | ClinVar Annotator: match by term: Meier-Gorlin syndrome | ClinVar Annotator: match by term: Microtia, absent patellae, micrognathia syndrome |
ClinVar |
PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 PMID:21358633 PMID:22333897 PMID:22855792 PMID:23023959 PMID:23516378 PMID:24033266 PMID:25689043 PMID:25741868 PMID:28492532 PMID:31274184 More...
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NCBI chr15:8,965,339...8,995,527
Ensembl chr15:8,971,732...8,995,481
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ORC4 |
origin recognition complex subunit 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21358631 PMID:21358632 |
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NCBI chr19:49,728,812...49,815,599
Ensembl chr19:49,728,344...49,815,604
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ORC6 |
origin recognition complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:8,421,297...8,427,972
Ensembl chr15:8,421,318...8,427,821
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VPS35 |
VPS35 retromer complex component |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:8,428,073...8,454,601
Ensembl chr15:8,428,172...8,454,049
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DONSON |
DNA replication fork stabilization factor DONSON |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr31:28,192,338...28,209,512
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FGFR2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 |
ClinVar |
PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 PMID:23754559 PMID:25271085 PMID:25741868 PMID:27228464 PMID:27683237 PMID:28492532 More...
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NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
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ORC1 |
origin recognition complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 | ClinVar Annotator: match by term: ORC1-related condition |
OMIM ClinVar |
PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 PMID:21358632 PMID:21358633 PMID:22333897 PMID:22689986 PMID:22855792 PMID:23023959 PMID:23516378 PMID:24033266 PMID:25689043 PMID:25741868 PMID:28112645 PMID:28492532 PMID:31274184 PMID:33482836 More...
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NCBI chr15:8,965,339...8,995,527
Ensembl chr15:8,971,732...8,995,481
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ORC4 |
origin recognition complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 | ClinVar Annotator: match by term: ORC4-related condition |
OMIM ClinVar |
PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 PMID:24033266 PMID:25741868 PMID:28492532 PMID:34008892 More...
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NCBI chr19:49,728,812...49,815,599
Ensembl chr19:49,728,344...49,815,604
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ORC6 |
origin recognition complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 | ClinVar Annotator: match by term: ORC6-related condition |
OMIM ClinVar |
PMID:7710253 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21358632 PMID:22333897 PMID:25691413 PMID:25741868 PMID:28492532 PMID:36012502 More...
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NCBI chr15:8,421,297...8,427,972
Ensembl chr15:8,421,318...8,427,821
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VPS35 |
VPS35 retromer complex component |
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ISO |
ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 |
ClinVar |
PMID:25741868 |
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NCBI chr15:8,428,073...8,454,601
Ensembl chr15:8,428,172...8,454,049
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CDT1 |
chromatin licensing and DNA replication factor 1 |
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ISO |
ClinVar Annotator: match by term: CDT1-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 |
OMIM ClinVar |
PMID:9536098 PMID:11477602 PMID:11992493 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33338304 More...
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NCBI chr 5:64,566,035...64,570,361
Ensembl chr 5:64,566,043...64,570,748
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CDC6 |
cell division cycle 6 |
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ISO |
ClinVar Annotator: match by term: CDC6-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 |
OMIM ClinVar |
PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 |
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NCBI chr 9:22,303,549...22,317,046
Ensembl chr 9:22,226,719...22,316,963
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GMNN |
geminin DNA replication inhibitor |
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ISO |
ClinVar Annotator: match by term: GMNN-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 |
OMIM ClinVar |
PMID:11477602 PMID:14973488 PMID:25741868 PMID:26637980 PMID:28492532 |
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NCBI chr35:22,796,558...22,805,961
Ensembl chr35:22,798,386...22,805,959
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CDC45 |
cell division cycle 45 |
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ISO |
ClinVar Annotator: match by term: CDC45-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 |
OMIM ClinVar |
PMID:25741868 PMID:27374770 PMID:28492532 PMID:29036220 PMID:30986546 PMID:34000999 PMID:38467731 More...
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NCBI chr26:29,707,523...29,738,599
Ensembl chr26:29,707,564...29,739,252
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MCM5 |
minichromosome maintenance complex component 5 |
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ISO |
ClinVar Annotator: match by term: MCM5-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 |
OMIM ClinVar |
PMID:25741868 PMID:28198391 PMID:28492532 |
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NCBI chr10:28,721,421...28,738,457
Ensembl chr10:28,721,660...28,738,390
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ABCC9 |
ATP binding cassette subfamily C member 9 |
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ISO |
ClinVar Annotator: match by term: Micrognathia |
ClinVar |
PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 PMID:26656175 PMID:26871653 PMID:28492532 More...
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NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477
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DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Micrognathia |
ClinVar |
PMID:25741868 |
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NCBI chr 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334
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INPP5E |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Micrognathia |
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 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191
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MECP2 |
methyl-CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Micrognathia |
ClinVar |
PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27929079 PMID:28492532 PMID:32581362 PMID:34837432 More...
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NCBI chr X:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994
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NOG |
noggin |
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ISO |
DNA:SNP:rs1348322(human) |
RGD |
PMID:20645637 |
RGD:12801465 |
NCBI chr 9:31,453,604...31,456,060
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PGAP2 |
post-GPI attachment to proteins 2 |
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ISO |
ClinVar Annotator: match by term: Micrognathia |
ClinVar |
PMID:25741868 |
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NCBI chr21:26,348,328...26,371,266
Ensembl chr21:26,348,378...26,370,380
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PITX1 |
paired like homeodomain 1 |
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ISO |
ClinVar Annotator: match by term: Micrognathia |
ClinVar |
PMID:25741868 |
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NCBI chr11:23,069,731...23,075,085
Ensembl chr11:23,069,716...23,080,941
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POLD1 |
DNA polymerase delta 1, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Micrognathia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
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RAB5IF |
RAB5 interacting factor |
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ISO |
ClinVar Annotator: match by term: Micrognathia |
ClinVar |
PMID:24194475 PMID:35614220 |
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NCBI chr24:25,386,406...25,396,045
Ensembl chr24:25,386,420...25,395,713
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SF3B4 |
splicing factor 3b subunit 4 |
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ISO |
ClinVar Annotator: match by term: Micrognathia |
ClinVar |
PMID:25741868 |
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NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991
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TNFRSF13B |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: Micrognathia |
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 chr 5:42,448,976...42,483,792
Ensembl chr 5:42,449,053...42,482,740
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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 chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681
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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 |
OMIM ClinVar |
PMID:18394579 PMID:23775976 PMID:25691070 PMID:25741868 |
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NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239
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TUBB |
tubulin beta class I |
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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 chr12:512,738...517,154
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ATP6V0A4 |
ATPase H+ transporting V0 subunit a4 |
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ISO |
ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr16:9,864,938...9,949,740
Ensembl chr16:9,885,149...9,949,708
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INSR |
insulin receptor |
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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 chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
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STAC3 |
SH3 and cysteine rich domain 3 |
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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 |
OMIM ClinVar |
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 chr10:1,370,340...1,377,769
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FBXW11 |
F-box and WD repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: FBXW11-related condition | ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31402090 |
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NCBI chr 4:40,238,695...40,363,445
Ensembl chr 4:40,238,737...40,361,125
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AOPEP |
aminopeptidase O (putative) |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 |
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NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395
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ARL3 |
ADP ribosylation factor like GTPase 3 |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 |
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NCBI chr28:15,152,762...15,189,043
Ensembl chr28:15,142,485...15,188,903
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CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 |
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NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852
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G |
FANCC |
FA complementation group C |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 More...
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NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
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G |
GLI1 |
GLI family zinc finger 1 |
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ISO |
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RGD |
PMID:15308259 |
RGD:12801443 |
NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982
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G |
GLI2 |
GLI family zinc finger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16936257 |
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NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
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G |
PTCH1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES |
ClinVar |
PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 PMID:8840969 PMID:8981943 PMID:9096761 PMID:9231911 PMID:9341860 PMID:9415689 PMID:9463336 PMID:9536098 PMID:9620294 PMID:10048928 PMID:10200051 PMID:10564585 PMID:10890722 PMID:11231326 PMID:11387302 PMID:11457640 PMID:11941477 PMID:12192414 PMID:12204003 PMID:12655573 PMID:12879481 PMID:12900905 PMID:12925203 PMID:15042702 PMID:15290653 PMID:15459969 PMID:15545745 PMID:15565302 PMID:15712338 PMID:16088933 PMID:16199547 PMID:16203740 PMID:16231297 PMID:16301862 PMID:16419085 PMID:16508594 PMID:16906569 PMID:16909134 PMID:16929110 PMID:16931872 PMID:17001668 PMID:17021131 PMID:17096318 PMID:17328283 PMID:17349603 PMID:17576681 PMID:17703323 PMID:17924555 PMID:18302678 PMID:18373848 PMID:18477452 PMID:18502968 PMID:18510667 PMID:18830227 PMID:19002359 PMID:19346217 PMID:19362041 PMID:19521425 PMID:19557015 PMID:19618880 PMID:20068110 PMID:20301330 PMID:20485063 PMID:20690502 PMID:21188540 PMID:21368767 PMID:21490102 PMID:21514272 PMID:21520333 PMID:21567912 PMID:22193408 PMID:22221699 PMID:22313357 PMID:22382802 PMID:22434048 PMID:22572734 PMID:22675565 PMID:22703879 PMID:22820256 PMID:22829011 PMID:22844361 PMID:22952776 PMID:22995991 PMID:23061468 PMID:23313819 PMID:23334667 PMID:23761049 PMID:23951062 PMID:24033266 PMID:24055113 PMID:24204797 PMID:24335643 PMID:24368541 PMID:24369017 PMID:24529220 PMID:24651015 PMID:24668667 PMID:24728327 PMID:24807215 PMID:24814739 PMID:24816767 PMID:24942795 PMID:25117323 PMID:25131638 PMID:25260786 PMID:25326635 PMID:25403219 PMID:25525159 PMID:25567908 PMID:25637381 PMID:25640679 PMID:25727044 PMID:25741868 PMID:25938944 PMID:26356331 PMID:26467025 PMID:26489027 PMID:26544948 PMID:26559152 PMID:26580448 PMID:26604511 PMID:26802149 PMID:26893459 PMID:26997948 PMID:27028851 PMID:27153395 PMID:27535533 PMID:27561271 PMID:27793025 PMID:27930734 PMID:27993330 PMID:28252636 PMID:28342698 PMID:28492532 PMID:28495808 PMID:28596197 PMID:28627087 PMID:28690523 PMID:28733979 PMID:28873162 PMID:29146900 PMID:29205322 PMID:29212164 PMID:29230040 PMID:29277811 PMID:29381605 PMID:29446198 PMID:29498494 PMID:29575684 PMID:29641532 PMID:29654263 PMID:29753700 PMID:29983323 PMID:29992659 PMID:30032850 PMID:30093976 PMID:30102335 PMID:30166346 PMID:30256826 PMID:30262796 PMID:30368514 PMID:30411536 PMID:30584090 PMID:30666157 PMID:30754660 PMID:30762128 PMID:30936464 PMID:30997576 PMID:31127104 PMID:31180159 PMID:31437519 PMID:31548691 PMID:31613886 PMID:31639285 PMID:31644632 PMID:31645765 PMID:31655866 PMID:31837199 PMID:31911633 PMID:32074614 PMID:32238911 PMID:32251017 PMID:32311334 PMID:32321774 PMID:32409749 PMID:32741058 PMID:32906206 PMID:33077954 PMID:33179747 PMID:33209614 PMID:33270637 PMID:33332384 PMID:33418956 PMID:33441926 PMID:33466296 PMID:33609447 PMID:33674644 PMID:33729574 PMID:33807452 PMID:34008892 PMID:34194672 PMID:34426522 PMID:34831015 PMID:35170016 PMID:35181726 PMID:35437209 PMID:36693175 More...
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NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
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G |
PTCH2 |
patched 2 |
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ISO |
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 PMID:25260786 PMID:25741868 PMID:28492532 PMID:28915250 PMID:31945512 PMID:32864857 PMID:33077954 More...
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NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234
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G |
PTH |
parathyroid hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24803734 |
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NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
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G |
SFXN2 |
sideroflexin 2 |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 |
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NCBI chr28:15,189,093...15,213,118
Ensembl chr28:15,154,951...15,212,337
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G |
SHH |
sonic hedgehog signaling molecule |
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ISO |
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RGD MouseDO |
PMID:9115210 |
RGD:12802345 |
NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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G |
SMO |
smoothened, frizzled class receptor |
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ISO |
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RGD |
PMID:15308259 |
RGD:12801443 |
NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
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G |
SUFU |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:23265383 PMID:23826113 PMID:24651015 PMID:24728327 PMID:25287320 PMID:25403219 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26580448 PMID:26677030 PMID:27363716 PMID:27793025 PMID:27930734 PMID:28050010 PMID:28492532 PMID:28717660 PMID:28873162 PMID:28965847 PMID:29186568 PMID:29356994 PMID:29489754 PMID:29641532 PMID:29654263 PMID:29753700 PMID:30256826 PMID:31639285 PMID:31781912 PMID:32278351 PMID:32295625 PMID:33024317 PMID:34056767 PMID:34589056 PMID:34675124 PMID:35768194 PMID:36825822 More...
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NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389
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G |
TRIM8 |
tripartite motif containing 8 |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 |
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NCBI chr28:15,124,310...15,138,660
Ensembl chr28:15,123,348...15,146,355
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G |
WBP1L |
WW domain binding protein 1 like |
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ISO |
ClinVar Annotator: match by term: Gorlin syndrome |
ClinVar |
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 |
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NCBI chr28:15,218,883...15,285,211
Ensembl chr28:15,218,775...15,282,416
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G |
PTCH1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Basal cell nevus syndrome 1 |
OMIM ClinVar |
PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 PMID:16419085 PMID:18477452 PMID:18502968 PMID:18830227 PMID:19213655 PMID:20301330 PMID:22572734 PMID:24204797 PMID:24814739 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29575684 PMID:30411536 More...
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NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
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G |
PTCH2 |
patched 2 |
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ISO |
ClinVar Annotator: match by term: Basal cell nevus syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234
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G |
SUFU |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 |
ClinVar OMIM |
PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:25403219 PMID:25741868 PMID:28492532 PMID:29186568 PMID:29753700 PMID:33024317 PMID:34675124 PMID:35768194 PMID:36825822 More...
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NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389
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G |
CBL |
Cbl proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Noonan-like syndrome |
ClinVar |
PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 PMID:28492532 PMID:29296819 More...
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NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
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G |
ERF |
ETS2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder |
ClinVar |
PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30758909 PMID:32370745 PMID:35852485 More...
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NCBI chr 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077
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G |
LOC403934 |
cell division cycle 42 |
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ISO |
ClinVar Annotator: match by term: Noonan-like syndrome |
ClinVar |
PMID:25741868 PMID:29394990 |
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NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
DNA:missense mutations:cds:p.D106A, p.F285L (human) |
RGD |
PMID:15996221 |
RGD:11064737 |
NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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G |
SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS |
ClinVar |
PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 PMID:14551916 PMID:16199547 PMID:16267129 PMID:17143282 PMID:17143285 PMID:17576681 PMID:17586837 PMID:18456719 PMID:18651097 PMID:18772396 PMID:18854871 PMID:18925667 PMID:18972187 PMID:19020799 PMID:19077116 PMID:19352411 PMID:19953625 PMID:20133692 PMID:20133694 PMID:20186801 PMID:20301303 PMID:20305546 PMID:20493809 PMID:20607846 PMID:20673819 PMID:20683980 PMID:20981092 PMID:21041952 PMID:21340158 PMID:21387466 PMID:21744363 PMID:21779504 PMID:21784453 PMID:22190897 PMID:22253195 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22494877 PMID:22585553 PMID:22589294 PMID:23452850 PMID:23487764 PMID:23673306 PMID:23756559 PMID:23885229 PMID:24033266 PMID:24037001 PMID:24124081 PMID:24270602 PMID:24451042 PMID:24458522 PMID:24522193 PMID:24803665 PMID:24896146 PMID:24939586 PMID:25073238 PMID:25712082 PMID:25741868 PMID:25802880 PMID:25862627 PMID:25864170 PMID:26280111 PMID:26297936 PMID:26467025 PMID:26580448 PMID:26607044 PMID:26918529 PMID:27153395 PMID:27304678 PMID:27418595 PMID:27763634 PMID:28074886 PMID:28378436 PMID:28492532 PMID:28870985 PMID:28884940 PMID:28957739 PMID:28991257 PMID:29074966 PMID:29402968 PMID:29493581 PMID:29554876 PMID:29625050 PMID:29641532 PMID:29696744 PMID:29752777 PMID:29868112 PMID:29907801 PMID:29970176 PMID:30039904 PMID:30050098 PMID:30325180 PMID:30417923 PMID:30541462 PMID:30712878 PMID:30784236 PMID:30838730 PMID:31219622 PMID:31292302 PMID:31368652 PMID:31560489 PMID:31573083 PMID:32059087 PMID:32333414 PMID:33042901 PMID:33128510 PMID:33318624 PMID:33771761 PMID:33848766 PMID:34008892 PMID:34136918 PMID:34163525 PMID:34358384 PMID:34411415 PMID:34434697 PMID:35506549 PMID:35904599 PMID:35982160 PMID:36110220 PMID:36413997 More...
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NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
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G |
YWHAZ |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
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ISO |
ClinVar Annotator: match by term: Noonan-like disorder |
ClinVar |
PMID:25741868 PMID:31024343 |
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NCBI chr13:2,729,404...2,764,422
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G |
SHOC2 |
SHOC2 leucine rich repeat scaffold protein |
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ISO |
ClinVar Annotator: match by term: Noonan-like syndrome with loose anagen hair |
ClinVar |
PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22670144 PMID:22995099 PMID:23756559 PMID:23786871 PMID:23885229 PMID:23918763 PMID:24033266 PMID:24458587 PMID:24458596 PMID:25123707 PMID:25137548 PMID:25326635 PMID:25326637 PMID:25331583 PMID:25563136 PMID:25741868 PMID:26467025 PMID:26519477 PMID:27466182 PMID:28492532 PMID:29907801 PMID:30348783 PMID:33673806 PMID:34008892 PMID:35348676 PMID:38259611 More...
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NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545
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G |
SHOC2 |
SHOC2 leucine rich repeat scaffold protein |
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ISO |
ClinVar Annotator: match by term: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22670144 PMID:22995099 PMID:23756559 PMID:23786871 PMID:23885229 PMID:23918763 PMID:24033266 PMID:24458587 PMID:24458596 PMID:25123707 PMID:25137548 PMID:25326635 PMID:25326637 PMID:25331583 PMID:25563136 PMID:25741868 PMID:26467025 PMID:26519477 PMID:27466182 PMID:28074886 PMID:28301460 PMID:28492532 PMID:29907801 PMID:30348783 PMID:33673806 PMID:34008892 PMID:35348676 PMID:38259611 More...
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NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545
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G |
PPP1CB |
protein phosphatase 1 catalytic subunit beta |
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ISO |
ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 PMID:28211982 PMID:28492532 PMID:30236064 PMID:30348783 PMID:31474318 PMID:33333793 PMID:33491856 More...
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NCBI chr17:22,680,691...22,699,999
Ensembl chr17:22,679,783...22,699,999
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G |
CBL |
Cbl proto-oncogene |
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ISO |
ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 PMID:19387008 PMID:19571318 PMID:19620960 PMID:19901108 PMID:20543203 PMID:20595524 PMID:20619386 PMID:20619389 PMID:20694012 PMID:20951944 PMID:20955399 PMID:21828135 PMID:21901340 PMID:22190897 PMID:22246246 PMID:22733026 PMID:22817890 PMID:23010802 PMID:23690417 PMID:23696637 PMID:23823657 PMID:24033266 PMID:24451042 PMID:24458550 PMID:24463883 PMID:24493670 PMID:24728327 PMID:24801577 PMID:24803665 PMID:24896146 PMID:25178484 PMID:25224413 PMID:25283271 PMID:25358541 PMID:25426838 PMID:25533962 PMID:25731833 PMID:25741868 PMID:25939664 PMID:25952305 PMID:26580448 PMID:26676746 PMID:26847329 PMID:27069254 PMID:27609087 PMID:27784745 PMID:27941868 PMID:28343148 PMID:28414188 PMID:28492532 PMID:28589114 PMID:28957739 PMID:29177441 PMID:29296819 PMID:31101757 PMID:31333075 PMID:31568572 PMID:31664448 PMID:31935506 PMID:31970404 PMID:32533790 PMID:32933826 PMID:33318624 PMID:33337535 PMID:33550024 PMID:33627783 PMID:38613168 More...
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NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
ClinVar |
PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 PMID:15389709 PMID:15520399 PMID:16053901 PMID:16358218 PMID:16377799 PMID:16638574 PMID:16679933 PMID:17020470 PMID:18372317 PMID:18849586 PMID:19725129 PMID:19768645 PMID:20301557 PMID:20308328 PMID:21339643 PMID:21747628 PMID:22681964 PMID:22822385 PMID:23673659 PMID:24033266 PMID:24401936 PMID:24775816 PMID:24820750 PMID:24935154 PMID:25731833 PMID:25741868 PMID:25917897 PMID:26337637 PMID:26467025 PMID:26918529 PMID:28483241 PMID:28492532 PMID:29276006 PMID:30311386 More...
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NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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G |
SPECC1L |
sperm antigen with calponin homology and coiled-coil domains 1 like |
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ISO |
ClinVar Annotator: match by term: Oblique facial clefts | ClinVar Annotator: match by term: Oculomaxillofacial dysostosis |
OMIM ClinVar |
PMID:21703590 PMID:25741868 PMID:28492532 |
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NCBI chr26:27,994,278...28,127,383
Ensembl chr26:28,025,987...28,125,695
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G |
SMAD4 |
SMAD family member 4 |
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ISO |
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RGD |
PMID:19703995 |
RGD:12880040 |
NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
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G |
MID1 |
midline 1 |
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ISO |
ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I |
OMIM ClinVar |
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:7,087,890...7,438,553
Ensembl chr X:7,089,831...7,194,267
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G |
ACSS2 |
acyl-CoA synthetase short chain family member 2 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate |
ClinVar |
PMID:25741868 PMID:27229527 |
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NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651
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G |
AXIN2 |
axin 2 |
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ISO |
DNA:SNP:cds:rs2240308(p.P50S)(human) |
RGD |
PMID:19119171 |
RGD:151356509 |
NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530
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BMP4 |
bone morphogenetic protein 4 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft |
ClinVar |
PMID:25741868 |
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NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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CDH1 |
cadherin 1 |
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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 chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
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CEP70 |
centrosomal protein 70 |
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ISO |
ClinVar Annotator: match by term: Median cleft lip and palate |
ClinVar |
PMID:19254375 PMID:25741868 PMID:31680349 |
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NCBI chr23:34,674,295...34,764,445
Ensembl chr23:34,700,041...34,792,035
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FLNA |
filamin A |
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ISO |
ClinVar Annotator: match by term: Orofacial clefting |
ClinVar |
PMID:25741868 |
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NCBI chr X:122,058,303...122,083,467
Ensembl chr X:122,061,455...122,083,203
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G |
FST |
follistatin |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft |
ClinVar |
PMID:31215115 |
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NCBI chr 4:61,779,252...61,785,666
Ensembl chr 4:61,779,259...61,783,260
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GDF11 |
growth differentiation factor 11 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft |
ClinVar |
PMID:31215115 |
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NCBI chr10:142,039...152,537
Ensembl chr10:145,036...148,373
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HKDC1 |
hexokinase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate |
ClinVar |
PMID:25741868 PMID:27229527 |
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NCBI chr 4:20,353,941...20,395,429
Ensembl chr 4:20,353,355...20,394,634
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LOC478000 |
phytanoyl-CoA hydroxylase-like |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate |
ClinVar |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25133751 PMID:25741868 PMID:27229527 PMID:27535533 PMID:28492532 PMID:32483926 PMID:34426522 More...
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NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497
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LOXHD1 |
lipoxygenase homology PLAT domains 1 |
susceptibility |
ISO |
DNA:SNP:exon:rs1450425 (human) |
RGD |
PMID:27242896 |
RGD:13204730 |
NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
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G |
LRP6 |
LDL receptor related protein 6 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft |
ClinVar |
PMID:22813217 PMID:23806086 PMID:26963285 |
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NCBI chr27:34,003,334...34,166,334
Ensembl chr27:34,003,539...34,161,437
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MEIS2 |
Meis homeobox 2 |
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ISO |
DNA:mutations, haplotype insufficiency: : |
RGD |
PMID:24678003 |
RGD:155598680 |
NCBI chr30:4,422,451...4,627,277
Ensembl chr30:4,422,440...4,741,335
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G |
MSX1 |
msh homeobox 1 |
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ISO |
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 |
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NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
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G |
MYH9 |
myosin heavy chain 9 |
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ISO |
DNA:SNPs DNA:SNP, haplotype: :rs7078 (human) DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human) DNA:SNPs: :rs3752462, rs2009930 (human) |
RGD |
PMID:17337617 PMID:18716610 PMID:19320731 PMID:19891592 |
RGD:12798509 RGD:12798511 RGD:12798512 RGD:12798514 |
NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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G |
NDST1 |
N-deacetylase and N-sulfotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cleft lip/palate |
ClinVar |
PMID:25741868 |
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NCBI chr 4:58,580,231...58,639,750
Ensembl chr 4:58,532,148...58,640,191
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G |
SMARCE1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
ClinVar Annotator: match by term: Facial cleft |
ClinVar |
PMID:25741868 |
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NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442
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G |
TFAP2A |
transcription factor AP-2 alpha |
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ISO |
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 |
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NCBI chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270
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G |
VWA8 |
von Willebrand factor A domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate |
ClinVar |
PMID:25741868 PMID:27229527 |
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NCBI chr22:8,799,044...9,153,627
Ensembl chr22:8,798,090...9,149,296
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G |
ADAMTSL1 |
ADAMTS like 1 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
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NCBI chr11:37,880,723...38,754,287
Ensembl chr11:38,372,186...38,751,972
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G |
CDH11 |
cadherin 11 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:83,977,267...84,122,712
Ensembl chr 5:84,038,317...84,122,110
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COL2A1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:24664531 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
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G |
FGF10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
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MAFB |
MAF bZIP transcription factor B |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
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NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948
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G |
NECTIN2 |
nectin cell adhesion molecule 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21637507 |
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NCBI chr 1:110,543,140...110,569,168
Ensembl chr 1:110,543,247...110,569,143
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G |
NIPBL |
NIPBL cohesin loading factor |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:71,583,118...71,780,986
Ensembl chr 4:71,583,732...71,780,852
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G |
NTN1 |
netrin 1 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:33,654,723...33,825,832
Ensembl chr 5:33,637,142...33,825,899
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PVR |
PVR cell adhesion molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21637507 |
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NCBI chr 1:110,692,906...110,713,209
Ensembl chr 1:110,697,911...110,754,296
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G |
RUNX2 |
RUNX family transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
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NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785 Ensembl chr12:13,628,539...13,840,785
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G |
RYK |
receptor like tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
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NCBI chr23:30,968,105...31,051,353
Ensembl chr23:30,968,231...31,051,605
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G |
TAF1B |
TATA-box binding protein associated factor, RNA polymerase I subunit B |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 1 |
ClinVar |
PMID:25741868 |
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NCBI chr17:6,873,275...6,940,432
Ensembl chr17:6,873,360...6,937,789
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G |
TTN |
titin |
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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...
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NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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G |
IRF6 |
interferon regulatory factor 6 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 10 |
ClinVar |
PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676 |
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NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661
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G |
SUMO1 |
small ubiquitin like modifier 1 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 10 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754
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G |
BMP4 |
bone morphogenetic protein 4 |
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ISO |
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 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...
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NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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G |
DLX4 |
distal-less homeobox 4 |
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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 |
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NCBI chr 9:26,001,287...26,002,708
Ensembl chr 9:25,976,680...26,002,323
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G |
MSX1 |
msh homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 5 |
OMIM ClinVar |
PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
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G |
IRF6 |
interferon regulatory factor 6 |
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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...
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NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661
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G |
NECTIN1 |
nectin cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 7 |
ClinVar |
PMID:10932188 PMID:11559849 PMID:32554531 |
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NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060
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G |
TP63 |
tumor protein p63 |
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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...
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NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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G |
COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia |
OMIM ClinVar |
PMID:7833911 PMID:7859284 PMID:9506662 PMID:9536098 PMID:9805126 PMID:10677296 PMID:14234962 PMID:15372529 PMID:15558753 PMID:15922184 PMID:17576681 PMID:21204229 PMID:22246659 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:25780254 PMID:26445815 PMID:26467025 PMID:26691295 PMID:26969326 PMID:27068579 PMID:28492532 PMID:28692176 PMID:29456477 PMID:29907799 PMID:30311386 PMID:31299979 PMID:31680349 PMID:33111345 PMID:33297549 PMID:33348901 PMID:35903967 PMID:36597107 PMID:37880672 More...
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NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
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G |
COL2A1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant |
ClinVar |
PMID:25741868 |
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NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
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G |
CCR2 |
C-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:20113782 |
RGD:8661683 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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G |
CX3CL1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
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RGD |
PMID:23829599 |
RGD:9491793 |
NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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G |
PDGFB |
platelet derived growth factor subunit B |
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ISO |
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RGD |
PMID:17509411 |
RGD:10449488 |
NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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G |
TNFRSF11B |
TNF receptor superfamily member 11b |
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ISO |
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RGD |
PMID:21793936 |
RGD:7205516 |
NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444
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G |
CCL7 |
C-C motif chemokine ligand 7 |
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ISO |
protein:increased expression:periodontal ligament |
RGD |
PMID:20646081 |
RGD:6483772 |
NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
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G |
CCR2 |
C-C motif chemokine receptor 2 |
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ISO |
mRNA:increased expression:gingiva: |
RGD |
PMID:16101967 |
RGD:8661719 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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G |
CCR3 |
C-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:11683586 |
RGD:6893426 |
NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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G |
CCL2 |
C-C motif chemokine ligand 2 |
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ISO |
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RGD |
PMID:24631631 |
RGD:8661717 |
NCBI chr 9:39,008,187...39,009,932
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G |
CCL7 |
C-C motif chemokine ligand 7 |
disease_progression |
ISO |
protein:increased expression:periodontal ligament |
RGD |
PMID:20646081 |
RGD:6483772 |
NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
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G |
CCR2 |
C-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:24631631 |
RGD:8661717 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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G |
CIITA |
class II major histocompatibility complex transactivator |
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ISO |
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RGD |
PMID:20478458 |
RGD:7242892 |
NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
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G |
CXCR2 |
C-X-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:22341067 |
RGD:7257692 |
NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
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G |
FGF2 |
fibroblast growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16631837 |
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NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
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G |
IL17A |
interleukin 17A |
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ISO |
protein:increased expression:Periapical Tissue |
RGD |
PMID:19166776 |
RGD:4832829 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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G |
TNFRSF11B |
TNF receptor superfamily member 11b |
treatment |
ISO |
Lactobacillus acidophilus |
RGD |
PMID:32436602 |
RGD:42721981 |
NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444
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G |
CCL2 |
C-C motif chemokine ligand 2 |
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ISO |
mRNA:increased expression:gingiva: |
RGD |
PMID:16101967 |
RGD:8661719 |
NCBI chr 9:39,008,187...39,009,932
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G |
CCR2 |
C-C motif chemokine receptor 2 |
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ISO |
mRNA:increased expression:gingiva: |
RGD |
PMID:16101967 |
RGD:8661719 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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G |
NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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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...
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NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072
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G |
B3GLCT |
beta 3-glucosyltransferase |
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ISO |
ClinVar Annotator: match by term: Peters plus syndrome |
OMIM ClinVar |
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...
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NCBI chr25:8,815,681...8,938,899
Ensembl chr25:8,817,628...8,939,249
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G |
FGF8 |
fibroblast growth factor 8 |
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ISO |
ClinVar Annotator: match by term: Peters plus syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29584859 |
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NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
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