RGD DISEASE ONTOLOGY - ANNOTATIONS
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.
Term: Jaw Abnormalities
Accession: DOID:9000066
browse the term
Definition: Congenital absence of or defects in structures of the jaw.
Synonyms: exact_synonym: Jaw Abnormality
primary_id: MESH:D007569
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Otx2
orthodenticle homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12183386
NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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Pold1
DNA polymerase delta 1, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770608
NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16580747
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Twsg1
twisted gastrulation BMP signaling modulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15013800
NCBI chr 9:105,533,116...105,567,460
Ensembl chr 9:105,533,136...105,567,479
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Foxh1
forkhead box H1
ISS
OMIM:202650
MouseDO
NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
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Prrx1
paired related homeobox 1
ISO
ClinVar Annotator: match by term: Agnathia-otocephaly complex CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 More...
NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866
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Trappc10
trafficking protein particle complex subunit 10
ISS
OMIM:202650
MouseDO
NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum
ClinVar
PMID:25741868
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Tp63
tumor protein p63
ISO ISS
OMIM:106260 ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome DNA:missense mutations:exon:multiple CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD RGD
PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:16740912 PMID:17576681 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:24309930 PMID:25741868 PMID:28492532 PMID:11159940 More...
RGD:11568643
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Ppp3ca
protein phosphatase 3 catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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Atp7a
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: Au-Kline syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Kabuki-like syndrome
ClinVar
PMID:25741868
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Hnrnpk
heterogeneous nuclear ribonucleoprotein K
ISO
ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: Okamoto syndrome
OMIM ClinVar
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28492532 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 PMID:39033378 More...
NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Kabuki-like syndrome
ClinVar
PMID:25741868
NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Okamoto syndrome
ClinVar
PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:10878807 PMID:11331612 PMID:11331613 PMID:12000816 PMID:12097293 PMID:12393546 PMID:12414898 PMID:12844285 PMID:12944410 PMID:15574766 PMID:15642680 PMID:16452184 PMID:16585181 PMID:17700531 PMID:17898043 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19602254 PMID:19906784 PMID:23772956 PMID:25741868 PMID:26845104 PMID:26846855 PMID:27517496 PMID:28235946 PMID:28492532 PMID:28873162 PMID:30890701 PMID:31980715 PMID:34628056 PMID:35668420 More...
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16884476
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Foxe1
forkhead box E1
ISO ISS
ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM:241850 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 PMID:21177256 PMID:25381600 PMID:25741868 PMID:28444304 PMID:28492532 PMID:32428920 PMID:35963604 More...
NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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Ripk4
receptor-interacting serine-threonine kinase 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE
OMIM CTD ClinVar
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2
OMIM ClinVar
PMID:25691407
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Med25
mediator complex subunit 25
ISO
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome
OMIM ClinVar
PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:32816121 PMID:37091313 More...
NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
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Hoxc13
homeobox C13
ISO
Ectodermal dysplasia-9
OMIA
PMID:28011715
NCBI chr 7:134,058,640...134,065,479
Ensembl chr 7:134,058,640...134,064,800
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Plekha5
pleckstrin homology domain containing A5
ISO
ClinVar Annotator: match by term: Bilateral cleft lip
ClinVar
PMID:25741868
NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546
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Sox3
SRY-box transcription factor 3
ISO
ClinVar Annotator: match by term: Bilateral cleft lip
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532
NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
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Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Bilateral cleft lip
ClinVar
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Cdh1
cadherin 1
ISO
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1
OMIM ClinVar
PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 PMID:11332401 PMID:11598162 PMID:11747475 PMID:11948460 PMID:12588804 PMID:12800196 PMID:14500541 PMID:15235021 PMID:16061854 PMID:16501831 PMID:16787116 PMID:16801346 PMID:16924464 PMID:17221870 PMID:17522512 PMID:17545690 PMID:18442100 PMID:19139070 PMID:19268661 PMID:19269290 PMID:19725995 PMID:20233471 PMID:20373070 PMID:20719348 PMID:20921021 PMID:21106365 PMID:21271559 PMID:21424370 PMID:22470475 PMID:22703879 PMID:22723466 PMID:23197654 PMID:23264079 PMID:23709761 PMID:24033266 PMID:24204729 PMID:24326041 PMID:24493355 PMID:24690483 PMID:24728327 PMID:24755471 PMID:25067988 PMID:25123297 PMID:25186627 PMID:25231023 PMID:25593300 PMID:25637381 PMID:25741868 PMID:25882375 PMID:25980754 PMID:26072394 PMID:26123647 PMID:26182300 PMID:26206375 PMID:26467025 PMID:26483394 PMID:26580448 PMID:26681312 PMID:26759166 PMID:26845104 PMID:26893459 PMID:27146957 PMID:27153395 PMID:27227907 PMID:27443514 PMID:27566442 PMID:27582386 PMID:27616075 PMID:27621404 PMID:27930734 PMID:27978560 PMID:28135145 PMID:28301459 PMID:28492532 PMID:28608266 PMID:28640387 PMID:28688938 PMID:28767289 PMID:28873162 PMID:28944238 PMID:28961279 PMID:28993866 PMID:29025585 PMID:29348693 PMID:29470806 PMID:29492670 PMID:29522266 PMID:29577179 PMID:29589180 PMID:29641532 PMID:29752822 PMID:30089731 PMID:30287823 PMID:30306255 PMID:30311375 PMID:30374176 PMID:30426508 PMID:30661051 PMID:31159747 PMID:31514334 PMID:31589614 PMID:31742824 PMID:31871109 PMID:32260281 PMID:32269045 PMID:32283892 PMID:32566746 PMID:32658311 PMID:32842532 PMID:33193653 PMID:33471991 PMID:33619332 PMID:33980423 PMID:34326862 PMID:34471991 PMID:35089076 PMID:36271359 PMID:36436516 PMID:36474027 PMID:36605468 PMID:36988593 More...
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Ctnnd1
catenin delta 1
ISO
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
OMIM ClinVar
PMID:25741868 PMID:28301459 PMID:29805042 PMID:32196547
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Kif15
kinesin family member 15
ISO
ClinVar Annotator: match by term: Braddock-carey syndrome 2
OMIM ClinVar
PMID:25741868 PMID:28150392
NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
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Mymk
myomaker, myoblast fusion factor
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 More...
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
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Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1
OMIM ClinVar
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
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Mymx
myomixer, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2
OMIM ClinVar
PMID:35642635
NCBI chr 9:15,397,086...15,398,263
Ensembl chr 9:15,397,144...15,398,263
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Kynu
kynureninase
ISO
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME
ClinVar
PMID:25741868 PMID:31923704 PMID:33942433
NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
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Tgds
TDP-glucose 4,6-dehydratase
ISO
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome
OMIM ClinVar
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 PMID:26366375 PMID:28422407 PMID:28492532 PMID:31769200 PMID:31833187 More...
NCBI chr15:95,175,064...95,195,555
Ensembl chr15:95,174,608...95,195,554
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Ric1
RIC1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Catifa syndrome
OMIM ClinVar
PMID:25741868 PMID:27878435 PMID:31932796
NCBI chr 1:227,285,510...227,384,553
Ensembl chr 1:227,285,210...227,382,863
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Ccm2
CCM2 scaffold protein
ISO ISS
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM:603284 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
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...
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Nacad
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 2
ClinVar
PMID:17160895 PMID:28492532
NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
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Pdcd10
programmed cell death 10
onset exacerbates
ISO ISS
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 DNA:deletion:CDS:c.506delA (human) DNA:mutations:multiple (human) DNA:SNPs:promoter: (rs9853967, rs11714980) (human) DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) DNA:mutations:SNPs, duplications, deletions:multiple (human) DNA:deletions, nonsense mutations:multiple (human) OMIM:603285 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 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 PMID:34597987 PMID:17041941 PMID:25122144 PMID:27737651 PMID:16284570 PMID:25354366 PMID:15543491 More...
RGD:401827173 , RGD:401827115 , RGD:401827114 , RGD:401827108 , RGD:401827103 , RGD:401827102 , RGD:329961304
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 3
ClinVar
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532
NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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Snrpb
small nuclear ribonucleoprotein polypeptides B and B1
ISO ISS
ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome | ClinVar Annotator: match by term: RIB GAP DEFECTS WITH MICROGNATHIA OMIM:117650 CTD Direct Evidence: marker/mechanism DNA:missense mutations:CDS:multiple (human)
OMIM ClinVar MouseDO CTD RGD
PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 PMID:28492532 PMID:26971886 More...
RGD:155641254
NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
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Abca4
ATP binding cassette subfamily A member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20436469
NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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Adamts20
ADAM metallopeptidase with thrombospondin type 1 motif, 20
ISO
Cleft lip with or without cleft palate, ADAMTS20-related
OMIA
PMID:13875838 PMID:25798845 PMID:28738009 PMID:28887848 PMID:34838248
NCBI chr 7:125,396,227...125,528,020
Ensembl chr 7:125,397,734...125,527,777
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Arhgap29
Rho GTPase activating protein 29
ISO
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate
ClinVar
PMID:25741868
NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028
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Bhmt2
betaine-homocysteine S-methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475
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Bmp4
bone morphogenetic protein 4
susceptibility
ISO
DNA:polymorphism:cds:p.V152A(human) DNA:SNP: : rs17563 (p.V152A)(human) ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
ClinVar RGD
PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 PMID:25741868 PMID:28492532 PMID:18771417 PMID:23227324 More...
RGD:13442495 , RGD:13442497
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Cdh1
cadherin 1
susceptibility
ISO
DNA:splice-site mutation: :531+2T>A (human) ClinVar Annotator: match by term: Cleft lip with or without cleft palate
ClinVar RGD
PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 PMID:30311375 PMID:36436516 PMID:15831593 More...
RGD:1599548
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Ctnnd1
catenin delta 1
ISO
ClinVar Annotator: match by term: Cleft lip with or without cleft palate
ClinVar
PMID:25741868 PMID:29805042
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Esrp2
epithelial splicing regulatory protein 2
ISO
ClinVar Annotator: match by term: Cleft lip with or without cleft palate
ClinVar
PMID:29805042
NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726
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Fgf1
fibroblast growth factor 1
ISO
DNA:SNP: :rs34010 (human)
RGD
PMID:24613087
RGD:11567264
NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
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Fgf10
fibroblast growth factor 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fgf3
fibroblast growth factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187
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Fgf7
fibroblast growth factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Fgf9
fibroblast growth factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs13317 (human)
CTD RGD
PMID:17963255 PMID:24613087
RGD:11567264
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Gdf6
growth differentiation factor 6
ISO
RGD
PMID:18716610
RGD:12798509
NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
G
Irf6
interferon regulatory factor 6
ISO ISS
van der Woude syndrome, OMIM:119300 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD MouseDO ClinVar RGD
PMID:17041601 PMID:18836445 PMID:20436469 PMID:25741868 PMID:28492532 PMID:12219090 More...
RGD:1600214
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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Kif7
kinesin family member 7
ISO
DNA:SNPs:introns:rs4932238,rs4932240(human)
RGD
PMID:26602496
RGD:11553833
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
G
Mafb
MAF bZIP transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20436469
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Msx1
msh homeobox 1
ISO
DNA:mutations, SNPs:multiple (human)
RGD
PMID:12807959
RGD:5132609
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility no_association
ISO
DNA:SNP:cds:1958G>A(human)
RGD
PMID:25129243 PMID:18261183
RGD:12910961 , RGD:12910962
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :c.677C>T(human)
CTD RGD
PMID:16470725 PMID:27387868
RGD:11565179
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Mthfs
methenyltetrahydrofolate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859337
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Nectin1
nectin cell adhesion molecule 1
ISO
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
RGD
PMID:10932188
RGD:1599795
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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Nog
noggin
susceptibility
ISO
DNA:SNP: :rs227731(human) DNA:SNP: : rs227727 (human)
RGD
PMID:25339627 PMID:25704602
RGD:12801482 , RGD:11251786
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Ntn1
netrin 1
ISO
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate
ClinVar
NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326
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Plekha5
pleckstrin homology domain containing A5
ISO
ClinVar Annotator: match by term: Cleft lip with or without cleft palate
ClinVar
PMID:29805042
NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546
G
Plekha7
pleckstrin homology domain containing A7
ISO
ClinVar Annotator: match by term: Cleft lip with or without cleft palate
ClinVar
PMID:29805042
NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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Pomt1
protein-O-mannosyltransferase 1
ISO
associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon
RGD
PMID:18640039
RGD:11532685
NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16405370
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Sdc2
syndecan 2
ISO
RGD
PMID:18716610
RGD:12798509
NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081
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Slc19a1
solute carrier family 19 member 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :80G>A(human)
CTD RGD
PMID:21254359 PMID:18797703
RGD:11565176
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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Spry2
sprouty RTK signaling antagonist 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17576140
NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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Sumo1
small ubiquitin-like modifier 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD ClinVar
PMID:16990542
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tcn2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16470748
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD ClinVar
PMID:16688749 PMID:25741868
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Hyal2
hyaluronidase 2
ISO
ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
ClinVar
PMID:25741868
NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850
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Tp63
tumor protein p63
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...
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Nectin1
nectin cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:25741868 PMID:25913853 PMID:28492532 More...
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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Amer1
APC membrane recruitment protein 1
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:25741868
NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
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Bhmt2
betaine-homocysteine S-methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475
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Bnc2
basonuclin zinc finger protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19706529
NCBI chr 5:98,679,071...99,016,044
Ensembl chr 5:98,687,410...99,079,426
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Cask
calcium/calmodulin dependent serine protein kinase
ISO
CTD Direct Evidence: marker/mechanism DNA:insertion
CTD RGD
PMID:9787075 PMID:9787075
RGD:11576291
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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Cbfb
core-binding factor subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17022082
NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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Cdc42
cell division cycle 42
ISS
MouseDO
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10346820
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Col11a2
collagen type XI alpha 2 chain
ISO
DNA:SNPs, haplotypes: :multiple DNA:SNPs, haplotypes: :rs3129208 (human)
RGD
PMID:20672350 PMID:22112025
RGD:12436724 , RGD:12904711
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col2a1
collagen type II alpha 1 chain
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP,haplotype:intron:rs1793949(human)
CTD RGD
PMID:15562585 PMID:20672350
RGD:12436724
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Dlg1
discs large MAGUK scaffold protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11238884
NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689
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Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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Egf
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11399798
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
G
Fgf10
fibroblast growth factor 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
G
Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Fgf3
fibroblast growth factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187
G
Fgf7
fibroblast growth factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
G
Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
G
Fgf9
fibroblast growth factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255 PMID:29526646
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Flna
filamin A
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:28492532 PMID:31942422 More...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Flnb
filamin B
susceptibility
ISO
DNA:SNPs::
RGD
PMID:20634891
RGD:12791026
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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Fzd4
frizzled class receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17103440
NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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Gata6
GATA binding protein 6
ISO
protein:decreased expression:secondary palatal shelf (mouse)
RGD
PMID:27391658
RGD:13208933
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Gdf6
growth differentiation factor 6
ISO
RGD
PMID:18716610
RGD:12798509
NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
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Gli3
GLI family zinc finger 3
ISO
RGD
PMID:18816854
RGD:12738224
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
G
Golgb1
golgin B1
ISS
MouseDO
NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
G
Grhl3
grainyhead-like transcription factor 3
ISO
ClinVar Annotator: match by term: nonsyndromic cleft palate
ClinVar
NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160
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Inpp1
inositol polyphosphate-1-phosphatase
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
NCBI chr 9:48,688,037...48,717,793
Ensembl chr 9:48,669,901...48,717,793
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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...
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Irf6
interferon regulatory factor 6
ISO
van der Woude syndrome, OMIM:119300 DNA:SNPs, haplotype: :rs9430018, rs17389541 (human) ClinVar Annotator: match by term: Cleft palate CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:12920575 PMID:17041601 PMID:25741868 PMID:12219090 PMID:20672350
RGD:1600214 , RGD:12436724
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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Kif7
kinesin family member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21552264
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Meg3
maternally expressed 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33812962
NCBI chr 6:128,491,808...128,524,010
G
Meis2
Meis homeobox 2
ISO
DNA:mutations:cds:multiples
RGD
PMID:30291340
RGD:155598678
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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Mnt
MAX network transcriptional repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15028671
NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
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Msx1
msh homeobox 1
ISO
DNA:mutations, SNPs:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12163415 PMID:12701100 PMID:15301380 PMID:12807959
RGD:5132609
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility
ISO
DNA:SNP:cds:1958 G>A (rs2236225)(human)
RGD
PMID:18661527
RGD:12914151
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
G
Mthfs
methenyltetrahydrofolate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859337
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Myo15a
myosin XVA
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532
NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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Myo19
myosin XIX
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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Nectin1
nectin cell adhesion molecule 1
ISO
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
RGD
PMID:10932188
RGD:1599795
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
G
Nedd4l
NEDD4 like E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27694961
NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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Nek9
NIMA-related kinase 9
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
G
Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Pax9
paired box 9
ISO
RGD
PMID:17097601
RGD:12801424
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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Pdgfra
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: nonsyndromic cleft palate
CTD ClinVar
PMID:18264099 PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 More...
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pgap3
post-GPI attachment to proteins phospholipase 3
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:25741868 PMID:30345601
NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
G
Pigw
phosphatidylinositol glycan anchor biosynthesis, class W
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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Pitx2
paired-like homeodomain 2
ISO
RGD
PMID:12975342
RGD:12910559
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
G
Prmt1
protein arginine methyltransferase 1
ISS
MouseDO
NCBI chr 1:95,458,853...95,468,176
Ensembl chr 1:95,458,850...95,468,345
G
Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16405370
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
G
Rarg
retinoic acid receptor, gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21807577
NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177
G
Rere
arginine-glutamic acid dipeptide repeats
ISO
RGD
PMID:33772547
RGD:329849004
NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
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Ror2
receptor tyrosine kinase-like orphan receptor 2
susceptibility
ISO
DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human)
RGD
PMID:22490406
RGD:11535950
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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Ryk
receptor-like tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10932185
NCBI chr 8:103,419,338...103,492,083
Ensembl chr 8:103,419,275...103,491,698
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Satb2
SATB homeobox 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft palate
CTD ClinVar
PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 PMID:28492532 PMID:29023086 More...
NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
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Sdc2
syndecan 2
ISO
RGD
PMID:18716610
RGD:12798509
NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:17097601
RGD:12801424
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Shox2
SHOX homeobox 2
ISO
RGD
PMID:16141225
RGD:12859081
NCBI chr 2:151,217,049...151,227,180
Ensembl chr 2:151,217,552...151,227,143
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Sim2
SIM bHLH transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12203729
NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
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Six2
SIX homeobox 2
ISS
MouseDO
NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193
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Slc19a1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:22426308 PMID:25741868 PMID:28973083 PMID:33461977
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Sox3
SRY-box transcription factor 3
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532
NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
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Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
ISS
MouseDO
NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Spry2
sprouty RTK signaling antagonist 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17576140
NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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Sumo1
small ubiquitin-like modifier 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16990542
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tbx1
T-box transcription factor 1
ISO
RGD
PMID:30121012 PMID:25556186
RGD:155631306 , RGD:155641231
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tbx22
T-box transcription factor 22
ISO
cleft palate with ankyloglossia, OMIM:303400
RGD
PMID:12374769
RGD:724722
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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Tenm4
teneurin transmembrane protein 4
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
NCBI chr 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25450421
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfb2
transforming growth factor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25450421
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tgfb3
transforming growth factor, beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7493022 PMID:26971374 PMID:17097601
RGD:12801424
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11462173
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Tbx22
T-box transcription factor 22
ISO
ClinVar Annotator: match by term: Cleft palate with ankyloglossia
ClinVar
PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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Meis2
Meis homeobox 2
ISO
ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 PMID:27225850 PMID:28492532 PMID:30055086 PMID:30291340 PMID:30735726 PMID:32345733 PMID:33526774 More...
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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Lrrc32
leucine rich repeat containing 32
ISO
ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay
OMIM ClinVar
PMID:25741868 PMID:30976112
NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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Kdm1a
lysine demethylase 1A
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...
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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Bmp4
bone morphogenetic protein 4
ISS
OMIM:119550
MouseDO
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Plod2
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
ISO
ClinVar Annotator: match by term: Cleft soft palate
ClinVar
PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 PMID:29178448 More...
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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Tgfbr2
transforming growth factor, beta receptor 2
ISS
OMIM:119570
MouseDO
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Arid1a
AT-rich interaction domain 1A
ISO ISS
ClinVar Annotator: match by term: Coffin-Siris syndrome CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD
PMID:22426308 PMID:25741868
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Arid1b
AT-rich interaction domain 1B
ISO
DNA:frameshift,nonsense mutations, haploinsufficiency:cds: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD ClinVar RGD
PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 PMID:28492532 PMID:24674232 More...
RGD:11526783
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Kdm8
lysine demethylase 8
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome
ClinVar
PMID:25741868
NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841
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Smarca2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
CTD ClinVar
PMID:18414213 PMID:22426308 PMID:28512736
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD ClinVar
PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 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...
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD ClinVar
PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22426308 PMID:22726846 PMID:24933152 PMID:25326635 PMID:25741868 PMID:28492532 More...
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarce1
SWI/SNF related BAF chromatin remodeling complex subunit E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22426308
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Sox11
SRY-box transcription factor 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD ClinVar
PMID:25741868 PMID:26543203
NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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Arid1a
AT-rich interaction domain 1A
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
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Arid1b
AT-rich interaction domain 1B
ISO ISS
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 OMIM:135900 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 MouseDO
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: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:31530938 PMID:31618753 PMID:32161024 PMID:32277047 PMID:32860008 PMID:33098347 PMID:33619735 PMID:33768696 PMID:34374989 PMID:34706719 PMID:35904121 More...
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Arsl
arylsulfatase L
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...
NCBI chr 2:119,038,803...119,047,579
Ensembl chr 2:119,038,921...119,046,846
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Dpf2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar
PMID:25741868 PMID:29429572
NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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Smarca2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar
PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar
PMID:25741868
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Sox4
SRY-box transcription factor 4
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar
PMID:25741868
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Sox4
SRY-box transcription factor 4
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 10
OMIM ClinVar
PMID:25741868 PMID:30661772 PMID:35232796 PMID:35887114 PMID:36834931
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Smarcd1
SWI/SNF related BAF chromatin remodeling complex subunit D1
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 11
OMIM ClinVar
PMID:25741868 PMID:30879640
NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
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Bicra
BRD4 interacting chromatin remodeling complex associated protein
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
NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157
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Actn4
actinin alpha 4
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...
NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Arid1a
AT-rich interaction domain 1A
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...
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Hr
HR, lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2
ClinVar
PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532
NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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Derl3
derlin 3
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3
ClinVar
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3
ClinVar
NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
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:31273213 PMID:31759698 PMID:33024572 More...
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
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...
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Smarce1
SWI/SNF related BAF chromatin remodeling complex subunit E1
susceptibility
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 5
ClinVar OMIM
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Arid2
AT-rich interaction domain 2
ISO
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...
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Dpf2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 7
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137
NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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Smarcc2
SWI/SNF related BAF chromatin remodeling complex subunit C2
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 More...
NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
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Sox11
SRY-box transcription factor 11
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
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...
NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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Tubb5
tubulin, beta 5 class I
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...
NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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Mapre2
microtubule-associated protein, RP/EB family, member 2
ISO
ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2
OMIM ClinVar
PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:31903734
NCBI chr18:15,028,675...15,169,553
Ensembl chr18:15,029,041...15,168,044
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Igbp1
immunoglobulin binding protein 1
ISO
ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532
NCBI chr X:65,582,832...65,605,078
Ensembl chr X:65,582,821...65,606,049
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Piezo2
piezo-type mechanosensitive ion channel component 2
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:31680123 PMID:36474027 PMID:39033378 More...
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Tp63
tumor protein p63
susceptibility
ISO ISS
DNA:frameshift mutation, missense mutations: :multiple ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM:604292 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.Q16X (human) DNA:missense mutations:exon:p.R280C, p.R304Q (human) DNA:missense mutation:exon:p.R279H (835G>A)
ClinVar MouseDO CTD OMIM RGD
PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:20556892 PMID:21078104 PMID:21204238 PMID:21211247 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24309930 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30655312 PMID:31050217 PMID:32476291 PMID:10535733 PMID:26470833 PMID:12161593 PMID:11903230 More...
RGD:1600403 , RGD:11532814 , RGD:11568642 , RGD:11568640
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome DNA:missense mutation:exon:p.A346G (c.1037C>G) (human) DNA:frameshift mutation, missense mutations:exon:multiple DNA:missense mutations: :multiple DNA:missense mutation:exon:p.R280C (955C>T) (human) DNA:missense mutation:exon:p.R318H (mouse)
CTD ClinVar RGD
PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12939657 PMID:16691622 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:20556892 PMID:21078104 PMID:21204238 PMID:21211247 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24309930 PMID:24734328 PMID:25741868 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:31050217 PMID:32476291 PMID:25983622 PMID:11462173 PMID:19903181 PMID:15324320 PMID:23775923 More...
RGD:11568639 , RGD:11568638 , RGD:11070288 , RGD:11568075 , RGD:11568074
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Alx1
ALX homeobox 1
ISO ISS
ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM:613456
OMIM ClinVar MouseDO
PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532
NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
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Tomm7
translocase of outer mitochondrial membrane 7
ISO
ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome
ClinVar OMIM
PMID:36282599 PMID:36299998
NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
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Ano5
anoctamin 5
ISO ISS
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions OMIM:166260 DNA:missense mutations:exon:p.C356R, p.C356G (human) DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)
OMIM ClinVar MouseDO RGD
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: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:34440373 PMID:35239206 PMID:35563815 PMID:35628876 PMID:35741838 PMID:36157496 PMID:36352632 PMID:36913258 PMID:37526466 PMID:15124103 PMID:23047743 More...
RGD:11570566 , RGD:11570556
NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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Fancf
FA complementation group F
ISO
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia
ClinVar
PMID:28492532
NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923
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Slc17a6
solute carrier family 17 member 6
ISO
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia
ClinVar
PMID:28492532
NCBI chr 1:101,212,489...101,252,543
Ensembl chr 1:101,212,489...101,252,542
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Med12
mediator complex subunit 12
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...
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Fgfr1
Fibroblast growth factor receptor 1
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...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Sobp
sine oculis binding protein homolog
ISO
ClinVar Annotator: match by term: IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus
OMIM ClinVar
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532
NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541
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Arhgap29
Rho GTPase activating protein 29
ISO
ClinVar Annotator: match by term: Isolated cleft palate
ClinVar
PMID:25741868
NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028
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Grhl3
grainyhead-like transcription factor 3
ISO
ClinVar Annotator: match by term: Isolated cleft palate
ClinVar
PMID:25741868 PMID:27018475 PMID:28492532
NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160
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Pdgfra
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: Isolated cleft palate
ClinVar
PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Satb2
SATB homeobox 2
ISS ISO
OMIM:119540 ClinVar Annotator: match by term: Isolated cleft palate
MouseDO ClinVar
PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 PMID:28151491 PMID:28211976 PMID:28492532 PMID:29023086 PMID:32581362 More...
NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
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Kif5c
kinesin family member 5C
ISO
ClinVar Annotator: match by term: Jaw-winking syndrome
ClinVar
PMID:25741868
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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Myh10
myosin heavy chain 10
ISO
ClinVar Annotator: match by term: Jaw-winking syndrome
ClinVar
PMID:25741868
NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
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Bmp4
bone morphogenetic protein 4
ISO
ClinVar Annotator: match by term: Kapur-Toriello syndrome
ClinVar
PMID:25741868
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:11297324 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30408610 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Camk2a
calcium/calmodulin-dependent protein kinase II alpha
ISO
ClinVar Annotator: match by term: Larsen syndrome, dominant type
ClinVar
PMID:25741868
NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
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Chst3
carbohydrate sulfotransferase 3
ISO
ClinVar Annotator: match by term: Larsen syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807
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Fgfr3
fibroblast growth factor receptor 3
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...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Flnb
filamin B
ISO
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 PMID:17576681 PMID:18322662 PMID:19085972 PMID:20301736 PMID:21620354 PMID:22190451 PMID:24123776 PMID:25741868 PMID:26380986 PMID:26491051 PMID:27048506 PMID:28229453 PMID:28492532 PMID:30544257 PMID:30712878 More...
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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Pold1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
OMIM ClinVar
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...
NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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Bmp5
bone morphogenetic protein 5
ISS
OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805
MouseDO
NCBI chr 8:76,517,164...76,639,925
Ensembl chr 8:76,517,164...76,639,925
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Cdc45
cell division cycle 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Cdc6
cell division cycle 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD ClinVar
PMID:21358632 PMID:28492532
NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD ClinVar
PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Donson
DNA replication fork stabilization factor DONSON
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:31407851 PMID:31784481 PMID:37638758
NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889
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Gmnn
geminin, DNA replication inhibitor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD ClinVar
PMID:11477602 PMID:14973488 PMID:26637980
NCBI chr17:40,301,771...40,310,054
Ensembl chr17:40,301,808...40,310,054
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Mcm3
minichromosome maintenance complex component 3
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome
ClinVar
PMID:25741868 PMID:33654309
NCBI chr 9:23,219,169...23,237,314
Ensembl chr 9:23,219,169...23,237,314
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Mcm7
minichromosome maintenance complex component 7
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome
ClinVar
PMID:25741868 PMID:33654309
NCBI chr12:17,042,207...17,049,470
Ensembl chr12:17,042,212...17,050,063
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Orc1
origin recognition complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism 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
CTD 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...
NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
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Orc4
origin recognition complex, subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21358631 PMID:21358632
NCBI chr 3:33,290,844...33,334,022
Ensembl chr 3:33,294,355...33,333,824
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Orc6
origin recognition complex, subunit 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD ClinVar
PMID:21358632 PMID:25741868
NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
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Vps35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome
ClinVar
PMID:25741868
NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
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Donson
DNA replication fork stabilization factor DONSON
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 1
ClinVar
PMID:25741868
NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889
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Orc1
origin recognition complex, subunit 1
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...
NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
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Orc4
origin recognition complex, subunit 4
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 2
OMIM ClinVar
PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 PMID:24033266 PMID:25741868 PMID:28492532 PMID:34008892 More...
NCBI chr 3:33,290,844...33,334,022
Ensembl chr 3:33,294,355...33,333,824
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Orc6
origin recognition complex, subunit 6
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 3
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...
NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
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Vps35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 3
ClinVar
PMID:25741868
NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 4
OMIM ClinVar
PMID:11477602 PMID:11992493 PMID:16199547 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33338304 More...
NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Cdc6
cell division cycle 6
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 5
OMIM ClinVar
PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532
NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011
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Gmnn
geminin, DNA replication inhibitor
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 6
OMIM ClinVar
PMID:11477602 PMID:14973488 PMID:25741868 PMID:26637980
NCBI chr17:40,301,771...40,310,054
Ensembl chr17:40,301,808...40,310,054
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Cdc45
cell division cycle 45
ISO
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...
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Mcm5
minichromosome maintenance complex component 5
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 8
OMIM ClinVar
PMID:25741868 PMID:28198391 PMID:28492532
NCBI chr19:13,483,030...13,504,389
Ensembl chr19:13,483,066...13,504,389
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Abcc9
ATP binding cassette subfamily C member 9
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...
NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:25741868
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Inpp5e
inositol polyphosphate-5-phosphatase E
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...
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Mecp2
methyl CpG binding protein 2
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...
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Nog
noggin
ISO
DNA:SNP:rs1348322(human)
RGD
PMID:20645637
RGD:12801465
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Pgap2
post-GPI attachment to proteins 2
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:25741868
NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
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Pitx1
paired-like homeodomain 1
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:25741868
NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
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Rab5if
RAB5 interacting factor
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:24194475 PMID:35614220
NCBI chr 3:145,357,990...145,368,012
Ensembl chr 3:145,357,861...145,368,012
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Sf3b4
splicing factor 3B subunit 4
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:25741868
NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
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Tnfrsf13b
TNF receptor superfamily member 13B
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...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Hoxa1
homeobox A1
ISO
ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
ClinVar
PMID:25741868
NCBI chr 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504
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Hoxa2
homeobox A2
ISO
ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868
NCBI chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044
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Tubb5
tubulin, beta 5 class I
ISO
ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome
ClinVar
PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 PMID:29706646 PMID:30738969 PMID:35183200 More...
NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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Atp6v0a4
ATPase H+ transporting V0 subunit a4
ISO
ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110
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Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
ClinVar
PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 PMID:25741868 PMID:27896077 PMID:28492532 More...
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Stac3
SH3 and cysteine rich domain 3
ISO
ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 PMID:28411587 PMID:28492532 PMID:28777491 PMID:30168660 PMID:31219695 PMID:32492370 More...
NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
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Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oblique facial clefts | ClinVar Annotator: match by term: Oculomaxillofacial dysostosis
OMIM CTD ClinVar
PMID:21703590 PMID:25741868 PMID:28492532
NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Mid1
midline 1
ISO ISS
OMIM:300000 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM MouseDO CTD ClinVar
PMID:9354791 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...
NCBI chr X:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353
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Acss2
acyl-CoA synthetase short-chain family member 2
ISO
DNA:missense mutation: :p.V496A (rs59088485) (human) ClinVar Annotator: match by term: Nonsyndromic cleft lip palate
ClinVar RGD
PMID:25741868 PMID:27229527 PMID:28543373 PMID:27229527
RGD:13831307 , RGD:13831309
NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675
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Axin2
axin 2
ISO
DNA:SNP:cds:rs2240308(p.P50S)(human)
RGD
PMID:19119171
RGD:151356509
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Bmp4
bone morphogenetic protein 4
ISO
ClinVar Annotator: match by term: Orofacial cleft
ClinVar
PMID:25741868
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Cdh1
cadherin 1
ISO
ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft
ClinVar
PMID:2449335 PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 PMID:24033266 PMID:24493355 PMID:24728327 PMID:25593300 PMID:25637381 PMID:25741868 PMID:25980754 PMID:26072394 PMID:26123647 PMID:26467025 PMID:26483394 PMID:26759166 PMID:27146957 PMID:27153395 PMID:27443514 PMID:27616075 PMID:27930734 PMID:27978560 PMID:28135145 PMID:28492532 PMID:28640387 PMID:28944238 PMID:29348693 PMID:29589180 PMID:30311375 PMID:32260281 PMID:36436516 More...
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cep70
centrosomal protein 70
ISO
ClinVar Annotator: match by term: Median cleft lip and palate
ClinVar
PMID:19254375 PMID:25741868 PMID:31680349
NCBI chr 8:99,810,270...99,863,279
Ensembl chr 8:99,810,367...99,862,855
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Orofacial clefting
ClinVar
PMID:25741868
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Fst
follistatin
ISO
ClinVar Annotator: match by term: Orofacial cleft
ClinVar
PMID:31215115
NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
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Gdf11
growth differentiation factor 11
ISO
ClinVar Annotator: match by term: Orofacial cleft
ClinVar
PMID:31215115
NCBI chr 7:1,311,732...1,325,211
Ensembl chr 7:1,311,732...1,320,725
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Gstm1
glutathione S-transferase mu 1
no_association
ISO
DNA:deletion: : (human)
RGD
PMID:11471167
RGD:12792251
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion:cds: (human)
RGD
PMID:11505167
RGD:12792210
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hkdc1
hexokinase domain containing 1
ISO
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate
ClinVar
PMID:25741868 PMID:27229527
NCBI chr20:30,335,322...30,373,792
Ensembl chr20:30,335,628...30,373,867
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Loxhd1
lipoxygenase homology PLAT domains 1
susceptibility
ISO
DNA:SNP:exon:rs1450425 (human)
RGD
PMID:27242896
RGD:13204730
NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983
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Lrp6
LDL receptor related protein 6
ISO
ClinVar Annotator: match by term: Orofacial cleft
ClinVar
PMID:22813217 PMID:23806086 PMID:26963285
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
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Meis2
Meis homeobox 2
ISO
DNA:mutations, haplotype insufficiency: :
RGD
PMID:24678003
RGD:155598680
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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Msx1
msh homeobox 1
ISS
OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892
MouseDO
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Myh9
myosin, heavy chain 9
ISO
DNA:SNPs DNA:SNPs: :rs3752462, rs2009930 (human) DNA:SNP, haplotype: :rs7078 (human) DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)
RGD
PMID:18716610 PMID:17337617 PMID:19320731 PMID:19891592
RGD:12798509 , RGD:12798514 , RGD:12798512 , RGD:12798511
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human) ClinVar Annotator: match by term: Nonsyndromic cleft lip palate
ClinVar RGD
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25133751 PMID:25741868 PMID:27229527 PMID:28492532 PMID:32483926 PMID:27229527 More...
RGD:13831309
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Smarce1
SWI/SNF related BAF chromatin remodeling complex subunit E1
ISO
ClinVar Annotator: match by term: Facial cleft
ClinVar
PMID:25741868
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Tbx22
T-box transcription factor 22
ISO
ClinVar Annotator: match by term: Orofacial cleft
ClinVar
PMID:25741868
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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Tfap2a
transcription factor AP-2 alpha
ISS
OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892
MouseDO
NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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Vwa8
von Willebrand factor A domain containing 8
ISO
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate
ClinVar
PMID:25741868 PMID:27229527
NCBI chr15:54,252,703...54,576,871
Ensembl chr15:54,252,584...54,576,870
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Adamtsl1
ADAMTS-like 1
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
PMID:25741868
NCBI chr 5:99,964,406...100,919,786
Ensembl chr 5:99,964,486...100,918,384
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Cdh11
cadherin 11
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
PMID:25741868
NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
PMID:24664531 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Fgf10
fibroblast growth factor 10
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
PMID:25741868
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
PMID:25741868
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21637507
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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Nipbl
NIPBL, cohesin loading factor
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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Ntn1
netrin 1
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
PMID:25741868
NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326
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Pvr
PVR cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21637507
NCBI chr 1:79,561,294...79,576,700
Ensembl chr 1:79,546,879...79,576,715
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Runx2
RUNX family transcription factor 2
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
PMID:25741868
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Ryk
receptor-like tyrosine kinase
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
NCBI chr 8:103,419,338...103,492,083
Ensembl chr 8:103,419,275...103,491,698
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Taf1b
TATA-box binding protein associated factor, RNA polymerase I subunit B
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
PMID:25741868
NCBI chr 6:41,116,980...41,194,593
Ensembl chr 6:41,117,420...41,194,593
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Ttn
titin
ISO
ClinVar Annotator: match by term: Orofacial cleft 1
ClinVar
PMID:18414213 PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:26701604 PMID:28492532 More...
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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Irf6
interferon regulatory factor 6
ISO
ClinVar Annotator: match by term: Orofacial cleft 10
ClinVar
PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Orofacial cleft 10 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 | ClinVar Annotator: match by term: Orofacial cleft 11
OMIM CTD ClinVar
PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 PMID:19557432 PMID:19685083 PMID:21340693 PMID:22052794 PMID:22978696 PMID:23227324 PMID:23841782 PMID:24429398 PMID:25741868 PMID:28492532 PMID:30568244 PMID:31053785 More...
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Dlx4
distal-less homeobox 4
ISO
ClinVar Annotator: match by term: Orofacial cleft 15
OMIM ClinVar
PMID:25741868 PMID:25954033 PMID:28492532
NCBI chr10:80,085,037...80,090,434
Ensembl chr10:80,085,465...80,090,456
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Msx1
msh homeobox 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Orofacial cleft 5
OMIM CTD ClinVar
PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 PMID:25741868 PMID:28492532 More...
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Irf6
interferon regulatory factor 6
ISO
ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to
OMIM ClinVar
PMID:9536098 PMID:12219090 PMID:12920575 PMID:14618417 PMID:15317890 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:16199547 PMID:16211254 PMID:16998136 PMID:17551329 PMID:17576681 PMID:18209213 PMID:18506368 PMID:18617879 PMID:19036739 PMID:19282774 PMID:19449419 PMID:19536562 PMID:19623037 PMID:19734457 PMID:19842205 PMID:20184620 PMID:20301581 PMID:21045959 PMID:21468557 PMID:21739575 PMID:22440537 PMID:22488974 PMID:23154523 PMID:23394314 PMID:23713753 PMID:23949966 PMID:24936515 PMID:25326635 PMID:25547932 PMID:25548624 PMID:25579819 PMID:25741868 PMID:25784454 PMID:26346622 PMID:28361103 PMID:28492532 PMID:28945736 PMID:29115498 PMID:29453417 PMID:30982524 PMID:31468312 PMID:31901040 PMID:32108996 PMID:32558391 PMID:36901693 More...
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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Nectin1
nectin cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Orofacial cleft 7
ClinVar
PMID:10932188 PMID:11559849
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: Orofacial cleft 8
OMIM ClinVar
PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 PMID:27798044 PMID:28492532 PMID:29500247 More...
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia CTD Direct Evidence: marker/mechanism DNA:splice-site mutation:intron
OMIM ClinVar CTD RGD
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:37880672 PMID:7859284 More...
RGD:12904710
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant
ClinVar
PMID:25741868
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Nedd4l
NEDD4 like E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay
OMIM ClinVar
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 PMID:32238909 PMID:36474027 More...
NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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B3glct
beta 3-glucosyltransferase
ISO ISS
OMIM:261540 ClinVar Annotator: match by term: Peters plus syndrome CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 PMID:18798333 PMID:19796186 PMID:20301637 PMID:23161355 PMID:23213277 PMID:23889335 PMID:25741868 PMID:26684045 PMID:28492532 PMID:32204707 More...
NCBI chr12:5,255,521...5,346,807
Ensembl chr12:5,255,740...5,346,810
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Fgf8
fibroblast growth factor 8
ISO
ClinVar Annotator: match by term: Peters plus syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:29584859
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Irf6
interferon regulatory factor 6
ISO ISS
ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:12219090 PMID:12920575 PMID:14757865 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:19036739 PMID:19282774 PMID:19449419 PMID:19734457 PMID:20803643 PMID:21045959 PMID:22440537 PMID:22488974 PMID:23949966 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:25741868 PMID:28492532 PMID:29453417 PMID:31468312 More...
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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Ripk4
receptor-interacting serine-threonine kinase 4
ISO ISS
ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650
ClinVar MouseDO
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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Dhodh
dihydroorotate dehydrogenase
ISO
ClinVar Annotator: match by term: Miller syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33262786 More...
NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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Col2a1
collagen type II alpha 1 chain
susceptibility
ISO
DNA:SNP: : rs1793953(human)
RGD
PMID:24386886
RGD:11667107
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia CTD Direct Evidence: marker/mechanism DNA:deletion, snps, missense mutations:multiple (human)
OMIM ClinVar CTD RGD
PMID:2020859 PMID:9536098 PMID:12868469 PMID:14564151 PMID:17576681 PMID:17924334 PMID:19250384 PMID:20825432 PMID:22582013 PMID:24033266 PMID:25026495 PMID:25741868 PMID:27862258 PMID:28492532 PMID:32093234 PMID:32299476 PMID:32337609 PMID:17924334 More...
RGD:11560486
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate | ClinVar Annotator: match by term: Rapp-Hodgkin syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 PMID:12525544 PMID:12766194 PMID:12939657 PMID:15200513 PMID:15748593 PMID:15983386 PMID:16740912 PMID:17576681 PMID:17609671 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19903181 PMID:20543567 PMID:20556892 PMID:21078104 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24309930 PMID:25741868 PMID:28293528 PMID:28492532 PMID:29620206 PMID:29956718 PMID:32476291 More...
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: retrognathism
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: Retrognathia
ClinVar
PMID:25741868 PMID:26938784
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: retrognathism
ClinVar
PMID:25741868
NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
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Prrx1
paired related homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23444262
NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866
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Eif4a3
eukaryotic translation initiation factor 4A3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome
OMIM CTD ClinVar
PMID:24360810
NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9169049 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16061565 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18414213 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:31502745 PMID:36474027 More...
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fbxw4
F-box and WD repeat domain containing 4
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:244,426,892...244,514,188
Ensembl chr 1:244,426,896...244,514,163
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Rbm10
RNA binding motif protein 10
ISO
ClinVar Annotator: match by term: TARP syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 PMID:28492532 PMID:30462380 PMID:32812661 PMID:35991558 More...
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
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Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition
OMIM ClinVar
PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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C13h1orf74
similar to human chromosome 1 open reading frame 74
ISO
ClinVar Annotator: match by term: Van der Woude syndrome 1
ClinVar
PMID:14618417
NCBI chr13:104,692,769...104,695,368
Ensembl chr13:104,692,824...104,695,470
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Cacna1e
calcium voltage-gated channel subunit alpha1 E
ISO
ClinVar Annotator: match by term: Van der Woude syndrome 1
ClinVar
PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943
NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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Grhl3
grainyhead-like transcription factor 3
ISS ISO
OMIM:119300 | OMIM:606713 ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1
MouseDO ClinVar
PMID:25741868 PMID:36901693
NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160
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Irf6
interferon regulatory factor 6
ISO ISS
ClinVar Annotator: match by term: Lip pit syndrome | ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 OMIM:119300 | OMIM:606713 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:12219090 PMID:12920575 PMID:14618417 PMID:14640121 PMID:14757865 PMID:15317890 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:16211254 PMID:16998136 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18506368 PMID:18617879 PMID:18813858 PMID:19036739 PMID:19282774 PMID:19449419 PMID:19623037 PMID:19734457 PMID:19842205 PMID:20184620 PMID:20301581 PMID:21045959 PMID:21468557 PMID:22440537 PMID:22488974 PMID:23154523 PMID:23949966 PMID:24936515 PMID:25326635 PMID:25547932 PMID:25548624 PMID:25741868 PMID:25784454 PMID:27243668 PMID:28492532 PMID:28945736 PMID:29115498 PMID:29453417 PMID:30689861 PMID:31468312 PMID:36901693 More...
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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Cfap57
cilia and flagella associated protein 57
ISO
ClinVar Annotator: match by term: Van der Woude syndrome 2
ClinVar
PMID:21574244 PMID:25741868
NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462
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Grhl3
grainyhead-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Van der Woude syndrome 2
OMIM CTD ClinVar
PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 PMID:24033266 PMID:24360809 PMID:25741868 PMID:28492532 More...
NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160
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Stpg1
sperm-tail PG-rich repeat containing 1
ISO
ClinVar Annotator: match by term: Van der Woude syndrome 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:147,717,084...147,769,792
Ensembl chr 5:147,726,646...147,769,788
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Acadvl
acyl-CoA dehydrogenase, very long chain
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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Acap1
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
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Acvr2a
activin A receptor type 2A
ISS
OMIM:261800
MouseDO
NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968
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Auts2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Pierre Robin-like syndrome
ClinVar
NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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Chrnb1
cholinergic receptor nicotinic beta 1 subunit
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
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Cldn7
claudin 7
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
ClinVar
PMID:9536098 PMID:10677296 PMID:15372529 PMID:15558753 PMID:17576681 PMID:21204229 PMID:22246659 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 PMID:26445815 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 PMID:28692176 PMID:29456477 PMID:29907799 PMID:31299979 PMID:31680349 PMID:33111345 PMID:37880672 More...
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Ctdnep1
CTD nuclear envelope phosphatase 1
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
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Dlx6
distal-less homeobox 6
ISO
Cleft palate 1, DLX6-related
OMIA
PMID:24699068 PMID:28738009 PMID:28887848 PMID:34838248
NCBI chr 4:34,984,264...34,989,926
Ensembl chr 4:34,984,232...34,991,343
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Dvl2
dishevelled segment polarity protein 2
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
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Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043
NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
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Eif5a
eukaryotic translation initiation factor 5A
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Elp5
elongator acetyltransferase complex subunit 5
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
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Fgf11
fibroblast growth factor 11
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
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Gabarap
GABA type A receptor-associated protein
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765
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Gps2
G protein pathway suppressor 2
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
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Kctd11
potassium channel tetramerization domain containing 11
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
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Mapk1
mitogen activated protein kinase 1
ISS
OMIM:261800
MouseDO
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Neurl4
neuralized E3 ubiquitin protein ligase 4
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
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Nlgn2
neuroligin 2
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,544,461...54,557,854
Ensembl chr10:54,544,588...54,558,434
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Phf23
PHD finger protein 23
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782
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Plscr3
phospholipid scramblase 3
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
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Polr2a
RNA polymerase II subunit A
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
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Slc2a4
solute carrier family 2 member 4
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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Slc35g3
solute carrier family 35, member G3
ISO
ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
ClinVar
NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
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Snrpb
small nuclear ribonucleoprotein polypeptides B and B1
ISO
ClinVar Annotator: match by term: Pierre Robin Syndrome
ClinVar
NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
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Sox11
SRY-box transcription factor 11
ISS
OMIM:261800
MouseDO
NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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Sox9
SRY-box transcription factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19234473
NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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Spem1
spermatid maturation 1
ISO
ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
ClinVar
NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
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Spem2
SPEM family member 2
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
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Tfrc
transferrin receptor
ISS
OMIM:261800
MouseDO
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tmem102
transmembrane protein 102
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,523,901...54,525,997
Ensembl chr10:54,523,585...54,525,990
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Tmem256
transmembrane protein 256
ISO
ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
ClinVar
NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
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Tmem95
transmembrane protein 95
ISO
ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
ClinVar
NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
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Tnk1
tyrosine kinase, non-receptor, 1
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
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Tnnt3
troponin T3, fast skeletal type
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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Ybx2
Y box binding protein 2
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
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Zbtb4
zinc finger and BTB domain containing 4
ISO
ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
ClinVar
NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
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Tbx22
T-box transcription factor 22
ISO ISS
OMIM:303400 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft palate X-linked | ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked
OMIM MouseDO CTD ClinVar
PMID:839509 PMID:14729838 PMID:16247549 PMID:17868388 PMID:22784330 PMID:25741868 PMID:28492532 More...
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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Fig4
FIG4 phosphoinositide 5-phosphatase
ISO ISS
ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM:216340 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 PMID:18556664 PMID:18758830 PMID:19118816 PMID:20301641 PMID:20630877 PMID:20932945 PMID:21655088 PMID:21705420 PMID:22998443 PMID:23165282 PMID:23336365 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24088667 PMID:24598713 PMID:24878229 PMID:25382069 PMID:25448007 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:26662798 PMID:27447704 PMID:27549087 PMID:28051077 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29342275 PMID:29468183 PMID:29518270 PMID:29650794 PMID:30373780 PMID:30740813 PMID:30792901 PMID:31313076 PMID:31475037 PMID:32022442 PMID:32376792 PMID:32385536 PMID:33424531 PMID:34426522 PMID:36133075 PMID:37223130 More...
NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
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Vac14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by term: Yunis-Varon syndrome
ClinVar
PMID:17956977 PMID:28492532 PMID:28635952
NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19100
Stomatognathic Diseases
1368
Jaw Diseases
381
Jaw Abnormalities
265
Acrorenal Mandibular Syndrome
0
Agnathia-Microstomia-Synotia
0
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
0
GARG-MISHRA PROGEROID SYNDROME
1
Hypoglossia-Hypodactylia
0
Impaired intellectual development, anterior maxillary protrusion, and strabismus
1
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
1
Micrognathism +
52
Ophthalmomandibulomelic Dysplasia
0
Prognathism +
1
Retrognathia +
5
Verloove-Vanhorick Brubakk Syndrome
0
Weissenbacher-Zweymuller syndrome +
46
agnathia-otocephaly complex
3
cleft palate +
118
cleft palate-lateral synechia syndrome
1
gnathodiaphyseal dysplasia
3
jaw-winking syndrome
2
orofacial cleft +
158
Path 2
disease
19100
Developmental Disease
14598
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
13613
Congenital Abnormalities
7780
Musculoskeletal Abnormalities
3440
Craniofacial Abnormalities
2765
Maxillofacial Abnormalities
311
Jaw Abnormalities
265
Acrorenal Mandibular Syndrome
0
Agnathia-Microstomia-Synotia
0
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
0
GARG-MISHRA PROGEROID SYNDROME
1
Hypoglossia-Hypodactylia
0
Impaired intellectual development, anterior maxillary protrusion, and strabismus
1
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
1
Micrognathism +
52
Ophthalmomandibulomelic Dysplasia
0
Prognathism +
1
Retrognathia +
5
Verloove-Vanhorick Brubakk Syndrome
0
Weissenbacher-Zweymuller syndrome +
46
agnathia-otocephaly complex
3
cleft palate +
118
cleft palate-lateral synechia syndrome
1
gnathodiaphyseal dysplasia
3
jaw-winking syndrome
2
orofacial cleft +
158