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: Stomatognathic System Abnormalities
Accession: DOID:9006733
browse the term
Definition: Congenital structural abnormalities of the mouth and jaws, including the dentition.
Synonyms: exact_synonym: stomatognathic system abnormality
primary_id: MESH:D018640
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Runx2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20357738
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Twist2
twist family bHLH transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ablepharon macrostomia syndrome
OMIM CTD ClinVar
PMID:2036354 PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 PMID:21595001 PMID:25741868 PMID:26119818 More...
NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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Tbx22
T-box transcription factor 22
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Abruzzo-Erickson syndrome
OMIM CTD ClinVar
PMID:839509 PMID:22784330 PMID:25741868
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 PMID:11528512 PMID:11929852 PMID:16114047 PMID:16724007 PMID:16740912 PMID:17041931 PMID:17224651 PMID:17431922 PMID:17576681 PMID:18603493 PMID:18626511 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:24309930 PMID:25741868 PMID:27469932 PMID:28492532 PMID:34308104 More...
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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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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Acp4
acid phosphatase 4
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
PMID:27843125
NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
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Amelx
amelogenin, X-linked
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar RGD
PMID:8406474
RGD:1300370
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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Arhgap6
Rho GTPase activating protein 6
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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Bnc2
basonuclin zinc finger protein 2
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
NCBI chr 5:98,679,071...99,016,044
Ensembl chr 5:98,687,410...99,079,426
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Chchd2
coiled-coil-helix-coiled-coil-helix domain containing 2
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755
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Col17a1
collagen type XVII alpha 1 chain
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
PMID:25741868
NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1
ClinVar
PMID:16484981 PMID:25741868 PMID:28492532
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Congenital enamel hypoplasia
ClinVar
PMID:25741868
NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Enam
enamelin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta
CTD ClinVar
PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532
NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)
RGD
PMID:22732358 PMID:25928877
RGD:11560487 , RGD:11560491
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Fam83h
family with sequence similarity 83, member H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18484629 PMID:19407157
NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Gpr68
G protein-coupled receptor 68
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
PMID:27693231
NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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Klk4
kallikrein-related peptidase 4
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
NCBI chr 1:94,344,195...94,349,425
Ensembl chr 1:94,344,195...94,349,424
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Lamc2
laminin subunit gamma 2
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200
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Ltbp3
latent transforming growth factor beta binding protein 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta
CTD ClinVar
PMID:25669657 PMID:35998423
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Psph
phosphoserine phosphatase
ISO
ClinVar Annotator: match by term: Congenital enamel hypoplasia
ClinVar
PMID:28492532
NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
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Relt
RELT, TNF receptor
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
PMID:25741868 PMID:30506946 PMID:32052416
NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
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Slc24a4
solute carrier family 24 member 4
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949
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Sp6
Sp6 transcription factor
IMP
RGD
PMID:22676574
RGD:10047189
NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013
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Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
PMID:24033266 PMID:25741868
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Mmp20
matrix metallopeptidase 20
ISO ISS
OMIM:612529 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
OMIM MouseDO CTD ClinVar
PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 PMID:22243262 PMID:23355523 PMID:23625376 PMID:25741868 PMID:26502894 PMID:28473773 PMID:28492532 PMID:28659819 More...
NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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Wdr72
WD repeat domain 72
ISO ISS
OMIM:613211 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3
OMIM MouseDO CTD ClinVar
PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 PMID:33033857 More...
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Odaph
odontogenesis associated phosphoprotein
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:22901946 PMID:25741868
NCBI chr14:16,071,835...16,080,151
Ensembl chr14:16,073,058...16,080,129
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Slc24a4
solute carrier family 24 member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5
OMIM CTD ClinVar
PMID:23375655 PMID:24621671 PMID:25741868
NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949
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Col17a1
collagen type XVII alpha 1 chain
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A
ClinVar
PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 PMID:25741868 PMID:28492532 More...
NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632
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Lamb3
laminin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A
OMIM CTD ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9160387 PMID:9205497 PMID:9242513 PMID:9536098 PMID:9767254 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:11810295 PMID:12813757 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:16199547 PMID:16439963 PMID:16473856 PMID:16674655 PMID:17476356 PMID:17576681 PMID:20301304 PMID:21801158 PMID:23278291 PMID:23632796 PMID:23958762 PMID:24617447 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28492532 PMID:28561256 PMID:28830826 PMID:30544381 More...
NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant
ClinVar
PMID:28492532
NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Enam
enamelin
ISO ISS
OMIM:104500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B
MouseDO CTD ClinVar OMIM RGD
PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:22414746 PMID:25741868 PMID:28334996 PMID:28492532 PMID:31478359 PMID:11487571 More...
RGD:1598908
NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Enam
enamelin
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:25741868 PMID:28492532 More...
NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Mmp20
matrix metallopeptidase 20
ISO
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive
ClinVar
NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive
ClinVar
PMID:25741868
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Amelx
amelogenin, X-linked
ISO ISS
OMIM:301200 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth
OMIM MouseDO CTD ClinVar
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 PMID:25741868 More...
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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Arhgap6
Rho GTPase activating protein 6
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth
ClinVar
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 PMID:25741868 More...
NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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Ambn
ameloblastin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F
OMIM CTD ClinVar
PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532
NCBI chr14:19,601,761...19,614,382
Ensembl chr14:19,601,702...19,614,393
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Fam20a
FAM20A, golgi associated secretory pathway pseudokinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
OMIM CTD ClinVar
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28086997 PMID:28492532 PMID:32246227 More...
NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
ClinVar
PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 PMID:32246227 More...
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Itgb6
integrin subunit beta 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H
OMIM CTD ClinVar
PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 PMID:25741868 PMID:28492532 More...
NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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Acp4
acid phosphatase 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J
OMIM CTD ClinVar
PMID:25741868 PMID:27843125 PMID:28513613
NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
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Sp6
Sp6 transcription factor
ISO
OMIM
NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013
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Klk4
kallikrein-related peptidase 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1
OMIM CTD ClinVar
PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 PMID:28611678 More...
NCBI chr 1:94,344,195...94,349,425
Ensembl chr 1:94,344,195...94,349,424
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Gpr68
G protein-coupled receptor 68
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6
OMIM CTD ClinVar
PMID:25741868 PMID:27693231
NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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Fam83h
family with sequence similarity 83, member H
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA
OMIM CTD ClinVar
PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 PMID:25741868 PMID:28492532 PMID:33034243 More...
NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Amtn
amelotin
ISO
OMIM
NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181
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Relt
RELT, TNF receptor
ISO ISS
OMIM:618386 ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c
OMIM MouseDO ClinVar
PMID:28492532 PMID:30506946 PMID:32052416
NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
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Dlx3
distal-less homeobox 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV
OMIM CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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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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Axin2
axin 2
ISO
ClinVar Annotator: match by term: Non-syndromic oligodontia
ClinVar
PMID:26406231
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Dkk1
dickkopf WNT signaling pathway inhibitor 1
ISO
DNA:SNP: :rs11001553 (human)
RGD
PMID:22984994
RGD:12738234
NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
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Eda
ectodysplasin-A
ISO
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar
PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 PMID:26753551 PMID:27144394 PMID:28492532 PMID:33205897 PMID:33943035 PMID:36294409 More...
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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Edar
ectodysplasin-A receptor
ISO
ClinVar Annotator: match by term: Non-syndromic oligodontia
ClinVar
PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:28492532 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Gli3
GLI family zinc finger 3
ISO
DNA:SNP: :rs929387 (human)
RGD
PMID:22984994
RGD:12738234
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Irx5
iroquois homeobox 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581230
NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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Itpa
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar
PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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Kdf1
keratinocyte differentiation factor 1
ISO
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar
PMID:25741868
NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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Ltbp3
latent transforming growth factor beta binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19344874 PMID:25899461
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Mmp13
matrix metallopeptidase 13
ISO
DNA:SNP: :rs2252070 (human)
RGD
PMID:24351915
RGD:13204812
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp9
matrix metallopeptidase 9
ISO
DNA:SNP: :rs17576 (human)
RGD
PMID:24351915
RGD:13204812
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Msx1
msh homeobox 1
ISO
autosomal dominant hypodontia, HYD1, OMIM:106600 CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8696335
RGD:1600484
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar
PMID:11827258 PMID:12605438 PMID:14571272 PMID:14607846 PMID:16236760 PMID:16479262 PMID:19429910 PMID:22581971 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28910570 More...
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Non-syndromic oligodontia
ClinVar
PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:28492532 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar
PMID:11827258 PMID:28492532
NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
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Sbds
Sbds, ribosome maturation factor
ISO
ClinVar Annotator: match by term: Anodontia of permanent dentition
ClinVar
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22934832 PMID:22935661 PMID:24033266 PMID:24388329 PMID:24629175 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26822237 PMID:32150944 PMID:32581362 More...
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28492532 PMID:32499604 More...
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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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
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 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: Au-Kline syndrome
ClinVar
PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:11331612 PMID:12000816 PMID:12393546 PMID:12414898 PMID:12844285 PMID:15642680 PMID:16452184 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19602254 PMID:23772956 PMID:24033266 PMID:25741868 PMID:26845104 PMID:28492532 PMID:28873162 More...
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO ISS
OMIM:124480 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM MouseDO CTD ClinVar
PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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Dspp
dentin sialophosphoprotein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 DNA:missense mutations:cds:p.P17T, p.V18P (human)
OMIM CTD ClinVar RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:11175790 More...
RGD:12910984
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Prickle1
prickle planar cell polarity protein 1
ISS
OMIM:268310
MouseDO
NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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Ror2
receptor tyrosine kinase-like orphan receptor 2
ISO ISS
OMIM:268310 ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly CTD Direct Evidence: marker/mechanism DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human) DNA:nonsense mutation:cds:p.W749X(mouse)
OMIM MouseDO ClinVar CTD RGD
PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 PMID:16049033 PMID:17665217 PMID:18252861 PMID:18414213 PMID:18831060 PMID:19640924 PMID:25741868 PMID:26284319 PMID:28492532 PMID:24932600 PMID:14745966 PMID:18353862 More...
RGD:11537348 , RGD:11537347 , RGD:11535948
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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Alpk1
alpha-kinase 1
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Ap1ar
adaptor-related protein complex 1 associated regulatory protein
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013
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Fam241a
family with sequence similarity 241 member A
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242
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Foxc1
forkhead box C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14630904
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Neurog2
neurogenin 2
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154
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Pax6
paired box 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14630904
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pitx2
paired-like homeodomain 2
ISO ISS
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM:180500 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10051017 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31185933 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Prdm5
PR/SET domain 5
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:26489929
NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Tifa
TRAF-interacting protein with forkhead-associated domain
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841
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Zgrf1
zinc finger, GRF-type containing 1
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
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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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Twist2
twist family bHLH transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Barber-Say syndrome
OMIM CTD ClinVar
PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 PMID:20799330 PMID:20830793 PMID:25741868 PMID:26119818 PMID:27092433 PMID:28680619 More...
NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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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
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 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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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
susceptibility
ISO
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1
ClinVar OMIM
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:34471991 PMID:35089076 PMID:36436516 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
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Ltbp3
latent transforming growth factor beta binding protein 3
ISO ISS
OMIM:601216 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta
OMIM MouseDO CTD ClinVar
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 PMID:19344874 PMID:25640679 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025 PMID:30887145 PMID:33082559 PMID:35998423 More...
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Scyl1
SCY1 like pseudokinase 1
ISO
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
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Kif15
kinesin family member 15
ISO
ClinVar Annotator: match by term: Braddock-carey syndrome 2
OMIM ClinVar
PMID:28150392
NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
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Lrp1
LDL receptor related protein 1
ISO
ClinVar Annotator: match by term: Keratosis pilaris | ClinVar Annotator: match by term: Ulerythema ophryogenesis
ClinVar
PMID:25741868 PMID:26142438 PMID:28381441
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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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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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2
ClinVar
PMID:35642635
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome
OMIM CTD 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: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
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 ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
OMIM MouseDO CTD ClinVar RGD
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 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
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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Add1
adducin 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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Atp5me
ATP synthase membrane subunit e
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
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Cplx1
complexin 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,184,677...1,216,392
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Ctbp1
C-terminal binding protein 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
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Dgkq
diacylglycerol kinase, theta
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
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Dok7
docking protein 7
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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Fam193a
family with sequence similarity 193, member A
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514
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Fam53a
family with sequence similarity 53, member A
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:77,088,178...77,124,395
Ensembl chr14:77,090,723...77,124,395
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfrl1
fibroblast growth factor receptor-like 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
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Gak
cyclin G associated kinase
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398
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Grk4
G protein-coupled receptor kinase 4
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693
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Haus3
HAUS augmin-like complex, subunit 3
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463
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Hgfac
HGF activator
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
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Htt
huntingtin
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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Idua
alpha-L-iduronidase
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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Letm1
leucine zipper and EF-hand containing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
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Maea
macrophage erythroblast attacher, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671
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Mfsd10
major facilitator superfamily domain containing 10
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377
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Msantd1
Myb/SANT DNA binding domain containing 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183
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Mxd4
Max dimerization protein 4
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221
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Nat8l
N-acetyltransferase 8-like
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
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Nelfa
negative elongation factor complex member A
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,808,920...76,832,998
Ensembl chr14:76,808,870...76,832,994
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Nicol1
NELL2 interacting cell ontogeny regulator 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,768,145...76,769,661
Ensembl chr14:76,768,146...76,773,575
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Nkx1-1
NK1 homeobox 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:77,296,676...77,300,575
Ensembl chr14:77,296,796...77,300,036
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Nop14
NOP14 nucleolar protein
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,081,313...76,102,454
Ensembl chr14:76,080,793...76,102,453
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
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Pcgf3
polycomb group ring finger 3
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793
G
Pde6b
phosphodiesterase 6B
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
G
Pigg
phosphatidylinositol glycan anchor biosynthesis, class G
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
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Poln
DNA polymerase nu
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463
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Rgs12
regulator of G-protein signaling 12
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596
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Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
G
Rnf212
ring finger protein 212
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831
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Rnf4
ring finger protein 4
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566
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Sh3bp2
SH3-domain binding protein 2
ISO ISS
ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw OMIM:118400 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 PMID:16199547 PMID:16786512 PMID:17321449 PMID:17576681 PMID:18596838 PMID:19017279 PMID:19576004 PMID:20002873 PMID:21045962 PMID:21794028 PMID:22153076 PMID:22153077 PMID:22795151 PMID:23298620 PMID:24033266 PMID:24382142 PMID:24608212 PMID:24916406 PMID:25144740 PMID:25741868 PMID:26064398 PMID:27272835 PMID:28492532 PMID:28644570 PMID:28904407 PMID:30236129 PMID:34573280 PMID:11381256 More...
RGD:1599339
NCBI chr14:76,176,097...76,213,300
Ensembl chr14:76,176,101...76,213,251
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Slbp
stem-loop histone mRNA binding protein
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906
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Slc26a1
solute carrier family 26 member 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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Slc49a3
solute carrier family 49 member 3
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132
G
Spon2
spondin 2
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996
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Tacc3
transforming, acidic coiled-coil containing protein 3
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:77,051,209...77,065,343
Ensembl chr14:77,051,215...77,065,219
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Tmem129
transmembrane protein 129, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:77,065,391...77,070,871
Ensembl chr14:77,065,841...77,070,865
G
Tmem175
transmembrane protein 175
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819
G
Tnip2
TNFAIP3 interacting protein 2
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,228,350...76,245,553
Ensembl chr14:76,228,371...76,275,265
G
Uvssa
UV-stimulated scaffold protein A
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903
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Zfyve28
zinc finger FYVE-type containing 28
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039
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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
G
Bhmt2
betaine-homocysteine S-methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475
G
Bmp4
bone morphogenetic protein 4
susceptibility
ISO
DNA:polymorphism:cds:p.V152A(human) DNA:SNP: : rs17563 (p.V152A)(human) ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
ClinVar RGD
PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 PMID:25741868 PMID:28492532 PMID:18771417 PMID:23227324 More...
RGD:13442495 , RGD:13442497
NCBI chr15:19,618,538...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
G
Ctnnd1
catenin delta 1
ISO
ClinVar Annotator: match by term: Cleft lip with or without cleft palate
ClinVar
PMID:25741868 PMID:29805042
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
G
Esrp2
epithelial splicing regulatory protein 2
ISO
ClinVar Annotator: match by term: Cleft lip with or without cleft palate
ClinVar
PMID:29805042
NCBI chr19:34,034,559...34,041,726
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
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
G
Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs13317 (human)
CTD RGD
PMID:17963255 PMID:24613087
RGD:11567264
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
G
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
G
Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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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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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 ClinVar MouseDO RGD
PMID:17041601 PMID:18836445 PMID:20436469 PMID:28492532 PMID:12219090
RGD:1600214
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
G
Kif7
kinesin family member 7
ISO
DNA:SNPs:introns:rs4932238,rs4932240(human)
RGD
PMID:26602496
RGD:11553833
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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
G
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
G
Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility no_association
ISO
DNA:SNP:cds:1958G>A(human)
RGD
PMID:25129243 PMID:18261183
RGD:12910961 , RGD:12910962
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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
G
Nog
noggin
susceptibility
ISO
DNA:SNP: :rs227731(human) DNA:SNP: : rs227727 (human)
RGD
PMID:25339627 PMID:25704602
RGD:12801482 , RGD:11251786
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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
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
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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
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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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:25741868 PMID:28492532 More...
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
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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
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
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Golgb1
golgin B1
ISS
MouseDO
NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
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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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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
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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
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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
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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
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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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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
CTD
PMID:18264099
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
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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
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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
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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
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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
G
Slc19a1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
G
Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:22426308 PMID:25741868 PMID:28973083
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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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
G
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
G
Sumo1
small ubiquitin-like modifier 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16990542
NCBI chr 9:61,078,790...61,108,697
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
G
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
G
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
G
Tgfb3
transforming growth factor, beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7493022 PMID:26971374 PMID:17097601
RGD:12801424
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
G
Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
NCBI chr13:79,460,229...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 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: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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies
OMIM CTD ClinVar
PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 PMID:28492532 More...
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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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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Lonp1
lon peptidase 1, mitochondrial
ISO
ClinVar Annotator: match by term: CODAS syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1887855 PMID:5574826 PMID:25574826 PMID:25741868 PMID:25741869 PMID:25808063 PMID:27878435 PMID:28492532 PMID:30304514 PMID:31636596 PMID:31923470 More...
NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
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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 | ClinVar Annotator: match by term: Fifth digit 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, matrix associated, actin dependent regulator of chromatin, subfamily a, member 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, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit 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, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
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:24933152 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, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
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: 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 condition | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: 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:27474218 PMID:27570168 PMID:27824329 PMID:28323383 PMID:28492532 PMID:28708303 PMID:29286531 PMID:30349098 PMID:30459321 PMID:30504930 PMID:31132234 PMID:31164752 PMID:31618753 PMID:32860008 PMID:33098347 PMID:33619735 PMID:33768696 PMID:34706719 More...
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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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, matrix associated, actin dependent regulator of chromatin, subfamily a, member 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, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
ClinVar
PMID:9536098 PMID:15756273 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:26744134 PMID:27701467 PMID:28166811 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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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
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Smarcd1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
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: 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:35353340 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, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
susceptibility
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3
ClinVar OMIM
PMID:9536098 PMID:11161377 PMID:17576681 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: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, matrix associated, actin dependent regulator of chromatin, subfamily a, member 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:24728327 PMID:25058500 PMID:25169753 PMID:25231023 PMID:25275049 PMID:25326635 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26467025 PMID:26580448 PMID:26744134 PMID:26901136 PMID:27701467 PMID:27930734 PMID:28135719 PMID:28202063 PMID:28492532 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:32376391 PMID:32686290 PMID:33680622 PMID:34813034 PMID:34906459 PMID:35047860 PMID:36474027 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, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
susceptibility
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 5
ClinVar OMIM
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532
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: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, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
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:30580808
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 disability, autosomal dominant 27
OMIM ClinVar
PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 PMID:31292255 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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Fgf3
fibroblast growth factor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
OMIM CTD ClinVar
PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 PMID:22993869 PMID:25741868 PMID:28492532 PMID:31336982 PMID:33187236 More...
NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187
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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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition
OMIM CTD ClinVar
PMID:25741868
NCBI chr X:65,582,832...65,605,078
Ensembl chr X:65,582,821...65,606,049
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Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniosynostosis and dental anomalies
OMIM CTD ClinVar
PMID:21741611 PMID:25741868 PMID:34906502
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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Cftr
CF transmembrane conductance regulator
IMP
RGD
PMID:31942562
RGD:126928119
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Cftrem1Ang
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang
IMP
RGD
PMID:31942562
RGD:126928119
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Cftrem2Ang
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang
IMP
RGD
PMID:31942562
RGD:126928119
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Dspp
dentin sialophosphoprotein
ISO
mRNA:decreased expression:incisor, molar (mouse) ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:11116156
RGD:734904
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Ssuh2
ssu-2 homolog
ISS
OMIM:125400 | OMIM:125420
MouseDO
NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
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Smoc2
SPARC related modular calcium binding 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth
OMIM CTD ClinVar
PMID:22152679 PMID:23317772 PMID:25741868
NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
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Dspp
dentin sialophosphoprotein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II
OMIM CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Col1a1
collagen type I alpha 1 chain
ISO
associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human) ClinVar Annotator: match by term: Dentinogenesis imperfecta
ClinVar RGD
PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:24668929 PMID:25741868 PMID:25944380 PMID:27509835 PMID:28492532 PMID:29807018 PMID:11286811 More...
RGD:11571615
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: Dentinogenesis imperfecta
ClinVar
PMID:7695699 PMID:8218237 PMID:9016532 PMID:16705691 PMID:17078022 PMID:19344236 PMID:23227268 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26788535 PMID:27510842 PMID:28492532 PMID:30152103 PMID:30715774 PMID:30886339 PMID:31429852 More...
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Dspp
dentin sialophosphoprotein
ISO ISS
mRNA:decreased expression:incisor, molar (mouse) OMIM:125490 | OMIM:125500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin DNA:snp:intron:g.87612175G>A (human)
MouseDO CTD ClinVar OMIM RGD
PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:16199547 PMID:18456718 PMID:19131317 PMID:21736673 PMID:22243242 PMID:22392858 PMID:25741868 PMID:27993330 PMID:28492532 PMID:11116156 PMID:11175790 More...
RGD:734904 , RGD:12910984
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Dspp
dentin sialophosphoprotein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human)
OMIM CTD ClinVar RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 PMID:15690376 More...
RGD:12911015
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Satb1
SATB homeobox 1
ISO
ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:33513338 PMID:34782754
NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:19597050 PMID:19863551 PMID:20031617 PMID:20152563 PMID:20400443 PMID:20525856 PMID:20716751 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22795705 PMID:22949226 PMID:23292937 PMID:23299917 PMID:23396983 PMID:23651034 PMID:23861362 PMID:24033266 PMID:24070718 PMID:24125834 PMID:24503780 PMID:24825141 PMID:24981977 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25979592 PMID:26099957 PMID:26138720 PMID:26187847 PMID:26220970 PMID:26272908 PMID:26332594 PMID:26399581 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26743238 PMID:26833927 PMID:27000522 PMID:27054166 PMID:27097650 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27532257 PMID:27930701 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28255936 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28527814 PMID:28600387 PMID:28611029 PMID:28759816 PMID:28790152 PMID:28798025 PMID:29095814 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29607617 PMID:29633331 PMID:29802319 PMID:29915098 PMID:30165862 PMID:30276209 PMID:30398466 PMID:30615648 PMID:30685992 PMID:30731207 PMID:30775854 PMID:30847666 PMID:30975432 PMID:31073624 PMID:31110529 PMID:31114860 PMID:31118017 PMID:31378211 PMID:31402444 PMID:31514951 PMID:31534214 PMID:31568572 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31983221 PMID:32114801 PMID:32277046 PMID:32372669 PMID:32600061 PMID:32746448 PMID:32826072 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32969603 PMID:33029862 PMID:33082984 PMID:33232181 PMID:33460606 PMID:33500567 PMID:33652588 PMID:33722762 PMID:33996946 PMID:34290054 PMID:34298581 PMID:34317553 PMID:34352074 PMID:34389451 PMID:34766015 PMID:34815391 PMID:34935411 PMID:35008956 PMID:35087879 PMID:35581137 PMID:36178741 PMID:36431211 PMID:36672924 PMID:36768812 PMID:36868229 PMID:37589201 PMID:37904629 More...
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gordon syndrome
OMIM CTD ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 PMID:27714920 PMID:27843126 PMID:28492532 PMID:30285720 PMID:31680123 More...
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar
PMID:614258 PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 PMID:31940116 PMID:32214227 PMID:32373668 PMID:32582862 PMID:32597037 PMID:32860008 PMID:33491183 PMID:34589056 PMID:36344503 More...
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Polr3b
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 More...
NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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Eda
ectodysplasin-A
ISO
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10469321 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18688569 PMID:18821982 PMID:19278982 PMID:19438931 PMID:19504606 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:19960895 PMID:20077893 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23687000 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24631698 PMID:24648697 PMID:24689965 PMID:24715423 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25640679 PMID:25741868 PMID:25846883 PMID:26273176 PMID:26345974 PMID:26411740 PMID:26502894 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27264909 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:29676859 PMID:30088137 PMID:30117778 PMID:31129666 PMID:31306530 PMID:31489414 PMID:31652981 PMID:31796081 PMID:31852928 PMID:31924237 PMID:33205897 PMID:33502802 PMID:33943035 PMID:34573371 PMID:34863015 PMID:35023123 PMID:36071541 PMID:36294409 PMID:8696334 More...
RGD:1598881
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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Eda2r
ectodysplasin A2 receptor
ISO
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
ClinVar
PMID:22889853
NCBI chr X:62,224,763...62,269,333
Ensembl chr X:62,228,229...62,269,268
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Mvk
mevalonate kinase
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic
ClinVar
PMID:25741868
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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Ccdc138
coiled-coil domain containing 138
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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Edar
ectodysplasin-A receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
CTD ClinVar OMIM RGD
PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26077850 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28981473 PMID:32274043 PMID:32325225 PMID:33205897 PMID:10431241 More...
RGD:1598883
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Edaradd
EDAR associated via death domain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CTD ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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Gcc2
GRIP and coiled-coil domain containing 2
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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Lims1
LIM zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar
PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26077850 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28981473 PMID:32274043 PMID:32325225 PMID:33205897 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Slc5a7
solute carrier family 5 member 7
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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Sult1c2a
sulfotransferase family 1C member 2A
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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Sult1c3
sulfotransferase family 1C member 3
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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Ccdc138
coiled-coil domain containing 138
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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Edar
ectodysplasin-A receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
OMIM CTD ClinVar
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:22032522 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Edaradd
EDAR associated via death domain
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:22032522 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Edaradd
EDAR associated via death domain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
OMIM CTD ClinVar
PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25640679 PMID:25741868 PMID:28492532 More...
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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Edar
ectodysplasin-A receptor
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Edaradd
EDAR associated via death domain
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
OMIM ClinVar
PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26440664 PMID:26991760 PMID:28492532 PMID:34219261 More...
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Kdf1
keratinocyte differentiation factor 1
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:27838789 PMID:28492532
NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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Cst6
cystatin E/M
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type
OMIM ClinVar
PMID:25741868 PMID:30425301
NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar
PMID:25741868
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 CTD Direct Evidence: marker/mechanism DNA:mutation:splicing site:
OMIM ClinVar CTD RGD
PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
RGD:12791265
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Baz1a
bromodomain adjacent to zinc finger domain, 1A
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
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Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
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Fam177a1
family with sequence similarity 177, member A1
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553
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Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 PMID:18412279 PMID:23708964 PMID:23864385 PMID:23870671 PMID:24033266 PMID:25601653 PMID:25741868 PMID:26888281 PMID:28417298 PMID:28492532 PMID:28629746 PMID:29948576 PMID:32581362 PMID:32750042 More...
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
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Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
G
Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
G
Tp63
tumor protein p63
susceptibility
ISO ISS
DNA:frameshift mutation, missense mutations: :multiple OMIM:604292 ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.Q16X (human) DNA:missense mutations:exon:p.R280C, p.R304Q (human) DNA:missense mutation:exon:p.R279H (835G>A)
MouseDO ClinVar 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: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: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
G
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: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: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
G
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
G
Antxr1
ANTXR cell adhesion molecule 1
susceptibility
ISO
DNA:missense mutations:cds:c.505C>T,c.262C>T (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GAPO syndrome
OMIM CTD ClinVar RGD
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 PMID:25741868 PMID:28492532 PMID:23602711 More...
RGD:9684854
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
G
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
G
Abca5
ATP binding cassette subfamily A member 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis
OMIM CTD ClinVar
PMID:24831815 PMID:25741868
NCBI chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976
G
Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Gingival fibromatosis
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:11868160
RGD:1580011
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
G
Zfp862
zinc finger protein 862
ISO
ClinVar Annotator: match by term: Gingival fibromatosis
ClinVar
PMID:25741868
NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995
G
Rest
RE1-silencing transcription factor
ISO
ClinVar Annotator: match by term: Fibromatosis, gingival, 1
ClinVar
PMID:28492532 PMID:28686854
NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
G
Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9030684 PMID:9536098 PMID:10675333 PMID:11868160 PMID:14551916 PMID:16199547 PMID:16267129 PMID:17143282 PMID:17143285 PMID:17576681 PMID:17586837 PMID:18651097 PMID:18678287 PMID:18854871 PMID:18925667 PMID:18925961 PMID:18972187 PMID:19020799 PMID:19077116 PMID:19352411 PMID:19953625 PMID:20133692 PMID:20186801 PMID:20305546 PMID:20493809 PMID:20607846 PMID:20673819 PMID:20683980 PMID:21041952 PMID:21274610 PMID:21340158 PMID:21387466 PMID:21784453 PMID:22190897 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22494877 PMID:22585553 PMID:22589294 PMID:23321623 PMID:23487764 PMID:23665959 PMID:23673306 PMID:23756559 PMID:23885229 PMID:24033266 PMID:24037001 PMID:24124081 PMID:24451042 PMID:24458522 PMID:24522193 PMID:24803665 PMID:24896146 PMID:25073238 PMID:25337068 PMID:25712082 PMID:25741868 PMID:25802880 PMID:25862627 PMID:25864170 PMID:26214590 PMID:26297936 PMID:26467025 PMID:26580448 PMID:26686981 PMID:26918529 PMID:27153395 PMID:27236105 PMID:27304678 PMID:27418595 PMID:27763634 PMID:28074886 PMID:28378436 PMID:28492532 PMID:28884940 PMID:28957739 PMID:28991257 PMID:29037749 PMID:29074966 PMID:29402968 PMID:29493581 PMID:29625050 PMID:29641532 PMID:29696744 PMID:29752777 PMID:29868112 PMID:29907801 PMID:29970176 PMID:30039904 PMID:30050098 PMID:30266093 PMID:30325180 PMID:30417923 PMID:30541462 PMID:30762279 PMID:30784236 PMID:30838730 PMID:31219622 PMID:31292302 PMID:31368652 PMID:31560489 PMID:31573083 PMID:32059087 PMID:32603605 PMID:33042901 PMID:33848766 PMID:34008892 PMID:34644002 PMID:36110220 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
G
Rest
RE1-silencing transcription factor
susceptibility
ISO
ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5 | ClinVar Annotator: match by term: Fibromatosis, gingival, 5
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:28686854 PMID:33719663
NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
G
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 CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.C356R, p.C356G (human) DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)
OMIM ClinVar MouseDO CTD 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:35239206 PMID:35563815 PMID:35741838 PMID:36157496 PMID:36352632 PMID:36913258 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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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: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
G
Gatad1
GATA zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
ClinVar
PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:28446956 PMID:28492532 PMID:29261186 PMID:29419819 PMID:30561787 PMID:30733538 PMID:31374812 PMID:31628608 PMID:31831025 PMID:32203225 PMID:32483926 PMID:33083013 PMID:33708531 PMID:33955040 PMID:33955814 PMID:34513757 More...
NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
G
Pex1
peroxisomal biogenesis factor 1
ISO
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:21862673 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25326635 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26594346 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28446956 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29261186 PMID:29419819 PMID:30362618 PMID:30561787 PMID:30733538 PMID:31374812 PMID:31628608 PMID:31742715 PMID:31831025 PMID:32203225 PMID:32483926 PMID:33083013 PMID:33708531 PMID:33955040 PMID:33955814 PMID:34448047 PMID:34513757 PMID:34744965 More...
NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
G
Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar
PMID:28492532
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
G
Pex6
peroxisomal biogenesis factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
G
Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Hartsfield syndrome
OMIM ClinVar
PMID:15605412 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
G
Eda
ectodysplasin-A
ISS ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
MouseDO ClinVar RGD
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26345974 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:30117778 PMID:31306530 PMID:31796081 PMID:31924237 PMID:31028034 More...
RGD:14398763
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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Edar
ectodysplasin-A receptor
ISS ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO ClinVar
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28808699 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Edaradd
EDAR associated via death domain
IAGP ISO
DNA:missense mutation:exon:p.Pro153Ser(rat) ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar RGD
PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 PMID:22013926 More...
RGD:14398762
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
G
EdaraddswhKyo
EDAR-associated death domain;swh Kyo mutant
IAGP
RGD
PMID:22013926
RGD:14398762
G
Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28808699 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Traf6
TNF receptor associated factor 6
ISS
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
MouseDO
NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
G
Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar
PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 PMID:23401279 PMID:24033266 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30974434 PMID:35537890 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Cdh1
cadherin 1
ISO
ClinVar Annotator: match by term: 4h syndrome
ClinVar
PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 PMID:36436516 More...
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 PMID:17576681 PMID:20640464 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22819058 PMID:22855961 PMID:23355746 PMID:23694757 PMID:23965854 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27506977 PMID:27521716 PMID:27535217 PMID:27612211 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29618326 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31069529 PMID:31438894 PMID:31637490 PMID:31932101 PMID:31940116 PMID:32214227 PMID:32373668 PMID:32555393 PMID:32582862 PMID:32597037 PMID:32860008 PMID:33134517 PMID:33491183 PMID:33644862 PMID:34284285 PMID:34589056 PMID:36344503 More...
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Polr3b
RNA polymerase III subunit B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD ClinVar
PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32180488 PMID:32319736 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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Rps24
ribosomal protein S24
ISO
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar
PMID:22855961 PMID:25741868 PMID:27029625
NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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Ctbp1
C-terminal binding protein 1
ISO
ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
OMIM ClinVar
PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29878067 PMID:31041561 More...
NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
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Sobp
sine oculis binding protein homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus
OMIM CTD 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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Cnnm4
cyclin and CBS domain divalent metal cation transport mediator 4
ISO
ClinVar Annotator: match by term: Jalili syndrome
OMIM ClinVar
PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 PMID:19200527 PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 More...
NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
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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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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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Acsf3
acyl-CoA synthetase family member 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316 PMID:31690835
NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Ankrd11
ankyrin repeat domain containing 11
ISO ISS
ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies OMIM:148050 CTD Direct Evidence: marker/mechanism DNA:deletions, SNPs:CDS:multiple (human) DNA:mutations:CDS:multiple (human)
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19344873 PMID:19920853 PMID:21782149 PMID:23463723 PMID:23494856 PMID:24033266 PMID:24088041 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25413698 PMID:25424714 PMID:25464108 PMID:25533962 PMID:25652421 PMID:25741868 PMID:26467025 PMID:26633542 PMID:26633545 PMID:27055092 PMID:27605097 PMID:27651234 PMID:27667800 PMID:27900361 PMID:28449295 PMID:28492532 PMID:28529015 PMID:28708303 PMID:28976722 PMID:29100083 PMID:29258554 PMID:29517769 PMID:29565525 PMID:30182498 PMID:30202406 PMID:30919572 PMID:30945278 PMID:31191201 PMID:31337854 PMID:31602316 PMID:31607427 PMID:31690835 PMID:32124548 PMID:32222090 PMID:32238909 PMID:32581362 PMID:33144682 PMID:33955014 PMID:35330407 PMID:35682590 PMID:35710456 PMID:35833929 PMID:35970914 PMID:21782149 PMID:25424714 More...
RGD:11068938 , RGD:11086621
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Aprt
adenine phosphoribosyl transferase
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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Banp
Btg3 associated nuclear protein
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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C19h16orf95
similar to human chromosome 16 open reading frame 95
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702
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Car5a
carbonic anhydrase 5A
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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Cbfa2t3
CBFA2/RUNX1 partner transcriptional co-repressor 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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Cdh15
cadherin 15
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316 PMID:31690835
NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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Cdk10
cyclin-dependent kinase 10
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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Cpne7
copine 7
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
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Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Fanca
FA complementation group A
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fbxo31
F-box protein 31
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010
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Galns
galactosamine (N-acetyl)-6-sulfatase
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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Il17c
interleukin 17C
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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Jph3
junctophilin 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:25741868
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Klhdc4
kelch domain containing 4
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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Map1lc3b
microtubule-associated protein 1 light chain 3 beta
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
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Mvd
mevalonate diphosphate decarboxylase
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
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Pabpn1l
PABPN1 like
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Rnf166
ring finger protein 166
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Slc7a5
solute carrier family 7 member 5
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Snai3
snail family transcriptional repressor 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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Spata2L
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
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Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Trappc2l
trafficking protein particle complex subunit 2L
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835
NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
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Zc3h18
zinc finger CCCH-type containing 18
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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Zcchc14
zinc finger CCHC-type containing 14
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029
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Zfp26
zinc finger protein 26
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316 PMID:31690835
NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,282,337...50,324,010
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Zfpm1
zinc finger protein, multitype 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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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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Adcy9
adenylate cyclase 9
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
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Anks3
ankyrin repeat and sterile alpha motif domain containing 3
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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C10h16orf96
similar to human chromosome 16 open reading frame 96
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,707,529...10,750,893
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Cdip1
cell death-inducing p53 target 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980
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Coro7
coronin 7
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dnaaf8
dynein axonemal assembly factor 8
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891
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Dnaja3
DnaJ heat shock protein family (Hsp40) member A3
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,854,732...10,880,171
Ensembl chr10:10,854,732...10,880,161
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Glis2
GLIS family zinc finger 2
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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Hmox2
heme oxygenase 2
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
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Mgrn1
mahogunin ring finger 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
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Nmral1
NmrA like redox sensor 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192
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Nudt16l1
nudix hydrolase 16 like 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370
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Pam16
presequence translocase associated motor 16
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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Rogdi
rogdi atypical leucine zipper
ISO ISS
OMIM:226750 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
OMIM MouseDO CTD ClinVar
PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 PMID:16411202 PMID:17576681 PMID:22424600 PMID:22482807 PMID:23086778 PMID:24630287 PMID:25565929 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452
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Septin12
septin 12
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
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Smim22
small integral membrane protein 22
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,572,146...10,574,339
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Srl
sarcalumenin
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
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Tfap4
transcription factor AP-4
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
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Ubald1
UBA-like domain containing 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518
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Vasn
vasorin
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
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Fgf10
fibroblast growth factor 10
ISS ISO
OMIM:149730 ClinVar Annotator: match by term: Levy-Hollister syndrome
MouseDO ClinVar
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Levy-Hollister syndrome
OMIM ClinVar
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:20489451 PMID:21367659 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:25741868 PMID:25867380 PMID:26380986 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 PMID:31502745 More...
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
ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28483234 PMID:28492532 PMID:28777845 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2
OMIM ClinVar
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgf10
fibroblast growth factor 10
ISO
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3
OMIM ClinVar
PMID:15654336 PMID:16501574 PMID:16630169
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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Fgf10
fibroblast growth factor 10
ISO
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
CTD ClinVar
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:20489451 PMID:21367659 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:25741868 PMID:25867380 PMID:26380986 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 PMID:31502745 More...
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
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28483234 PMID:28492532 PMID:28777845 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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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: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 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:20301736 PMID:21620354 PMID:22190451 PMID:24123776 PMID:25741868 PMID:26380986 PMID:26491051 PMID:27048506 PMID:28229453 PMID:28492532 PMID:32369273 More...
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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Fras1
Fraser extracellular matrix complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17163535
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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Pold1
DNA polymerase delta 1, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
CTD OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25583476 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29056344 PMID:30093976 PMID:31780696 PMID:32792570 PMID:32885271 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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Col3a1
collagen type III alpha 1 chain
IDA
RGD
PMID:10373016
RGD:704391
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16832597
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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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
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 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:31784481
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: Meier-Gorlin 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 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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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31474763
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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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 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
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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Lemd2
LEM domain nuclear envelope protein 2
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:25741868 PMID:30905398
NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
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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:27781091 PMID:27929079 PMID:28492532 PMID:32581362 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
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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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion, haplotype: : (human)
RGD
PMID:16521944
RGD:12792248
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
no_association
ISO
DNA:deletion:: (human)
RGD
PMID:18449058
RGD:12792235
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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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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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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Adgrg2
adhesion G protein-coupled receptor G2
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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Bclaf3
BCLAF1 and THRAP3 family member 3
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:35,257,228...35,328,883
Ensembl chr X:35,263,576...35,328,816
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Bend2
BEN domain containing 2
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:33,365,748...33,389,773
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Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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Map3k15
mitogen-activated protein kinase kinase kinase 15
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
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Map7d2
MAP7 domain containing 2
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091
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Nhs
NHS actin remodeling regulator
ISO ISS
DNA:snp, insertion, nonsense mutations:multiple (human) ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome OMIM:302350 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:458526 PMID:2246772 PMID:9536098 PMID:14564667 PMID:15466011 PMID:15623749 PMID:16199547 PMID:16736028 PMID:17256798 PMID:17304053 PMID:17576681 PMID:18018428 PMID:18076117 PMID:18949062 PMID:19414485 PMID:20882036 PMID:23265383 PMID:23757202 PMID:24753537 PMID:24968223 PMID:25266737 PMID:25315662 PMID:25741868 PMID:26633542 PMID:27148795 PMID:27159028 PMID:28492532 PMID:28557584 PMID:29611406 PMID:30642278 PMID:30945684 PMID:16736028 More...
RGD:1598795
NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992
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Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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Phka2
phosphorylase kinase regulatory subunit alpha 2
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
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Ppef1
protein phosphatase with EF-hand domain 1
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
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Rai2
retinoic acid induced 2
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
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Rps6ka3
ribosomal protein S6 kinase A3
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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Rs1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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Scml1
Scm polycomb group protein like 1
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366
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Scml2
Scm polycomb group protein like 2
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
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Sh3kbp1
SH3 domain-containing kinase-binding protein 1
ISO
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy
OMIM CTD ClinVar
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: 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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Gja1
gap junction protein, alpha 1
ISO ISS
DNA:missense mutation:cds:p.P59H (human) ClinVar Annotator: match by term: Oculodentodigital dysplasia OMIM:164200 | OMIM:257850 CTD Direct Evidence: marker/mechanism DNA:mutation:cd:p.G138R(mouse) DNA:missense mutation: :p.H194P (human) DNA:missense mutations, duplication:multiple (human) DNA:missense mutation:cds:p.G60S (mouse)
ClinVar MouseDO CTD OMIM RGD
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16155213 PMID:16211004 PMID:16378922 PMID:16531323 PMID:16709485 PMID:17256797 PMID:17420259 PMID:17509830 PMID:17687502 PMID:17901047 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19638688 PMID:19725242 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:24115525 PMID:25327171 PMID:25388818 PMID:25741868 PMID:27226478 PMID:28492532 PMID:30628995 PMID:32318302 PMID:34630166 PMID:16219735 PMID:18003637 PMID:15637728 PMID:12457340 PMID:16155213 More...
RGD:1578474 , RGD:12910132 , RGD:8662400 , RGD:8662375 , RGD:8662372
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gja1
gap junction protein, alpha 1
ISO
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 PMID:14974090 PMID:14981729 PMID:15192806 PMID:15879313 PMID:16531323 PMID:16813608 PMID:16816024 PMID:17509830 PMID:17901047 PMID:18003637 PMID:18079109 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19615768 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:23951358 PMID:24115525 PMID:24508941 PMID:25327171 PMID:25388818 PMID:25398053 PMID:25741868 PMID:26004348 PMID:26537360 PMID:27216975 PMID:27226478 PMID:28492532 PMID:29927410 PMID:30628963 PMID:30628995 PMID:30631135 PMID:30653986 PMID:30811667 PMID:32318302 PMID:32449269 PMID:34630166 More...
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Tbc1d32
TBC1 domain family, member 32
ISO
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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Pik3c2a
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
ISO
ClinVar Annotator: match by term: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31034465
NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472
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Trip11
thyroid hormone receptor interactor 11
ISO
ClinVar Annotator: match by term: Goldblatt syndrome
OMIM ClinVar
PMID:20089971 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324
NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
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Mia3
MIA SH3 domain ER export factor 3
ISO
OMIM
NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Odontoonychodermal dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27657131 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28589954 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29271000 PMID:29314690 PMID:29364747 PMID:29758562 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:35537890 PMID:36071541 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Axin2
axin 2
ISO
ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 PMID:15735151 PMID:15841489 PMID:16199547 PMID:16820935 PMID:16941501 PMID:17373666 PMID:17576681 PMID:19065536 PMID:21069480 PMID:21294210 PMID:21416598 PMID:21472303 PMID:21476993 PMID:21520333 PMID:21541676 PMID:21626677 PMID:22581971 PMID:23169527 PMID:23838596 PMID:24033266 PMID:24581859 PMID:25151137 PMID:25236910 PMID:25260786 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26580448 PMID:26681312 PMID:27009842 PMID:27090353 PMID:27153395 PMID:27234654 PMID:27300758 PMID:27491081 PMID:27696107 PMID:28265457 PMID:28492532 PMID:28577310 PMID:28717660 PMID:28944238 PMID:29114927 PMID:29212164 PMID:29341116 PMID:29371908 PMID:29458332 PMID:29625052 PMID:29641532 PMID:30093976 PMID:30262796 PMID:30322717 PMID:30374176 PMID:30555066 PMID:30760879 PMID:30822429 PMID:31285513 PMID:31721781 PMID:31769227 PMID:31811167 PMID:31819260 PMID:32807118 PMID:32984025 PMID:33193653 PMID:33359728 PMID:33558524 PMID:33606809 PMID:33725141 PMID:34196900 PMID:34817745 PMID:35014770 PMID:35904628 PMID:36071541 PMID:36502525 PMID:36672847 More...
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Gna13
G protein subunit alpha 13
ISO
ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome
ClinVar
PMID:28492532
NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774
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Rgs9
regulator of G-protein signaling 9
ISO
ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome
ClinVar
PMID:28492532
NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
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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)
RGD
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
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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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:25741868 PMID:27229527 PMID:28492532 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, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
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: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
G
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
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: 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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Orofacial cleft 15
OMIM CTD 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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:12219090 PMID:12920575 PMID:15317890 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:16199547 PMID:16211254 PMID:16998136 PMID:17551329 PMID:17576681 PMID:18209213 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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Acsf2
acyl-CoA synthetase family member 2
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:25741868
NCBI chr10:79,504,510...79,546,714
Ensembl chr10:79,504,511...79,546,673
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Col1a1
collagen type I alpha 1 chain
ISO ISS
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I OMIM:166200 ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
OMIM ClinVar MouseDO
PMID:1445258 PMID:1460046 PMID:1634225 PMID:1718984 PMID:1737847 PMID:1770532 PMID:1867198 PMID:1895312 PMID:1988452 PMID:2035536 PMID:2037280 PMID:2238087 PMID:2295701 PMID:2542316 PMID:2709835 PMID:2767050 PMID:2794057 PMID:3016737 PMID:3082886 PMID:3403550 PMID:6462220 PMID:7487936 PMID:7691343 PMID:7695699 PMID:7789952 PMID:7881420 PMID:7942841 PMID:8079666 PMID:8094076 PMID:8125479 PMID:8218237 PMID:8349697 PMID:8408653 PMID:8456806 PMID:8456808 PMID:8456809 PMID:8613526 PMID:8669434 PMID:8757037 PMID:8799376 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9101304 PMID:9143923 PMID:9295084 PMID:9443882 PMID:9536098 PMID:9600458 PMID:10408781 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:11826020 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15046069 PMID:15106082 PMID:15235039 PMID:15241796 PMID:15502558 PMID:15728585 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16474405 PMID:16638323 PMID:16705691 PMID:16773572 PMID:16786509 PMID:16879195 PMID:17056636 PMID:17078022 PMID:17206620 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:17875077 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18798308 PMID:18845533 PMID:18996919 PMID:19199251 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:19637253 PMID:19751715 PMID:20696291 PMID:20981092 PMID:21239989 PMID:21249479 PMID:21344539 PMID:21520333 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21834035 PMID:21884818 PMID:22206639 PMID:22565191 PMID:22570641 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23054245 PMID:23079818 PMID:23265383 PMID:23443412 PMID:23529829 PMID:23587214 PMID:23692737 PMID:23729740 PMID:23929220 PMID:23949819 PMID:24088041 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24273577 PMID:24311407 PMID:24390061 PMID:24486247 PMID:24501682 PMID:24668929 PMID:24767406 PMID:24891183 PMID:25086671 PMID:25146735 PMID:25324685 PMID:25436829 PMID:25525159 PMID:25597651 PMID:25633413 PMID:25640679 PMID:25696019 PMID:25741868 PMID:25742658 PMID:25944380 PMID:25963598 PMID:25983617 PMID:26138843 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26264579 PMID:26371943 PMID:26402641 PMID:26467025 PMID:26478226 PMID:26604951 PMID:26627451 PMID:26633542 PMID:26633545 PMID:26712438 PMID:26799614 PMID:26863094 PMID:27011056 PMID:27044453 PMID:27059743 PMID:27060301 PMID:27090748 PMID:27132807 PMID:27146342 PMID:27335225 PMID:27380894 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27577215 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28166811 PMID:28173822 PMID:28252636 PMID:28326186 PMID:28378289 PMID:28436160 PMID:28492532 PMID:28498836 PMID:28528406 PMID:28725987 PMID:28748566 PMID:28810924 PMID:28817112 PMID:28991257 PMID:29101475 PMID:29150909 PMID:29432813 PMID:29499418 PMID:29502568 PMID:29543232 PMID:29552444 PMID:29595812 PMID:29669177 PMID:29695797 PMID:29807018 PMID:29946973 PMID:30131598 PMID:30266093 PMID:30450527 PMID:30567240 PMID:30614853 PMID:30665703 PMID:30675999 PMID:30684648 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31055083 PMID:31218168 PMID:31236376 PMID:31239369 PMID:31299979 PMID:31304589 PMID:31363794 PMID:31414283 PMID:31429852 PMID:31447884 PMID:31584903 PMID:31680973 PMID:31737030 PMID:31994750 PMID:32123938 PMID:32166892 PMID:32214361 PMID:32235935 PMID:32581362 PMID:32595695 PMID:32627857 PMID:32667677 PMID:32860008 PMID:32981126 PMID:33070251 PMID:33110269 PMID:33195954 PMID:33228694 PMID:33928192 PMID:33939306 PMID:34007986 PMID:34008892 PMID:34091789 PMID:34249109 PMID:34394176 PMID:34422331 PMID:34426522 PMID:34902613 PMID:35128800 PMID:35723357 PMID:35918752 PMID:37270749 More...
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth
ClinVar
PMID:458828 PMID:1634225 PMID:1642148 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2052622 PMID:2454224 PMID:2777808 PMID:2824475 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3680255 PMID:4742738 PMID:6092353 PMID:6773953 PMID:7695699 PMID:7860070 PMID:7891382 PMID:7959683 PMID:8071956 PMID:8081389 PMID:8081394 PMID:8094076 PMID:8218237 PMID:8456807 PMID:8456808 PMID:8800927 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9099837 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651 PMID:10027910 PMID:10627137 PMID:10807697 PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18798308 PMID:18996919 PMID:19317096 PMID:19344236 PMID:19594296 PMID:21239989 PMID:21344539 PMID:21488275 PMID:21488294 PMID:21520333 PMID:21530898 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23158907 PMID:23227268 PMID:23443412 PMID:23548243 PMID:23692737 PMID:23869235 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24296239 PMID:24342908 PMID:24501682 PMID:24668929 PMID:24863959 PMID:25086671 PMID:25146735 PMID:25289482 PMID:25326637 PMID:25436829 PMID:25441681 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25858481 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26551090 PMID:26604951 PMID:26627451 PMID:26788535 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27264419 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:27761249 PMID:28017821 PMID:28346524 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29499418 PMID:29595812 PMID:29620724 PMID:29656858 PMID:29669177 PMID:29807018 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30311386 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31363794 PMID:31414283 PMID:31429852 PMID:31447884 PMID:31566912 PMID:31737030 PMID:31794058 PMID:32123938 PMID:32659730 PMID:32667677 PMID:32770541 PMID:32920552 PMID:33070251 PMID:33110269 PMID:33939306 PMID:34306033 PMID:34422331 PMID:35723357 PMID:36896471 PMID:37079061 PMID:37270749 More...
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:26478226 PMID:28492532 More...
NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Eme1
essential meiotic structure-specific endonuclease 1
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:25741868
NCBI chr10:79,586,718...79,595,515
Ensembl chr10:79,586,729...79,595,435
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Itga3
integrin subunit alpha 3
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 More...
NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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Lrrc59
leucine rich repeat containing 59
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:25741868
NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533
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Mrpl27
mitochondrial ribosomal protein L27
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:25741868
NCBI chr10:79,595,459...79,601,242
Ensembl chr10:79,595,479...79,601,239
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Pdk2
pyruvate dehydrogenase kinase 2
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 More...
NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085
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Ppp1r9b
protein phosphatase 1, regulatory subunit 9B
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 More...
NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
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Samd14
sterile alpha motif domain containing 14
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 More...
NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341
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Sgca
sarcoglycan, alpha
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:7695699 PMID:7942841 PMID:8218237 PMID:9016532 PMID:9295084 PMID:9443882 PMID:17078022 PMID:19344236 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 More...
NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813
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Tmem92
transmembrane protein 92
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:25741868
NCBI chr10:79,749,242...79,760,807
G
Xylt2
xylosyltransferase 2
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar
PMID:25741868
NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391
G
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:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:25780254 PMID:26467025 PMID:26691295 PMID:26969326 PMID:27068579 PMID:28492532 PMID:28692176 PMID:30311386 PMID:33297549 PMID:33348901 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
G
Nedd4l
NEDD4 like E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay
OMIM ClinVar
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 PMID:32238909 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:14757865 PMID:15558496 PMID:16096995 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:19036739 PMID:19282774 PMID:19734457 PMID:20803643 PMID:22440537 PMID:22488974 PMID:23949966 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:25741868 PMID:28492532 PMID:29453417 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 (quinone)
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:12868469 PMID:14564151 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 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: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 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:8957519 PMID:9002682 PMID:9169049 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16061565 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18552176 PMID:20301628 PMID:20489451 PMID:21367659 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:25741868 PMID:25867380 PMID:26380986 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 More...
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:24033266 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29364747 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:35537890 PMID:36071541 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Hspg2
heparan sulfate proteoglycan 2
ISO ISS
ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 OMIM:255800
OMIM ClinVar MouseDO
PMID:11038441 PMID:11101850 PMID:11279527 PMID:11941538 PMID:16199547 PMID:16927315 PMID:17213231 PMID:20080505 PMID:20542149 PMID:20644199 PMID:21228398 PMID:23836246 PMID:24088041 PMID:24781210 PMID:24912484 PMID:25504735 PMID:25741868 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:27268795 PMID:27521129 PMID:27766954 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29302074 PMID:29901129 PMID:30362252 PMID:35982159 More...
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1
ClinVar
PMID:11038441 PMID:11941538 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
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Plec
plectin
ISO
ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin
ClinVar
PMID:25741868
NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Tooth agenesis, selective, 1
ClinVar
PMID:19555857 PMID:20002458 PMID:21737554 PMID:25741868 PMID:26387786 PMID:28492532 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Msx1
msh homeobox 1
ISO
ClinVar Annotator: match by term: Tooth agenesis, selective, 1
OMIM ClinVar
PMID:8696335 PMID:9742121 PMID:10742093 PMID:12097313 PMID:15264286 PMID:16498076 PMID:24914010 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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Tspear
thrombospondin-type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Tooth agenesis, selective, 10
OMIM ClinVar
PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 PMID:27736875 PMID:28492532 PMID:29144512 PMID:30046887 PMID:32112661 PMID:34042254 More...
NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
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Eda
ectodysplasin-A
ISO
ClinVar Annotator: match by term: Tooth agenesis, selective, 2
ClinVar
PMID:25741868 PMID:30526585
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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Evc2
EvC ciliary complex subunit 2
ISO
ClinVar Annotator: match by term: Tooth agenesis, selective, 2
ClinVar
PMID:25741868
NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Tooth agenesis, selective, 2
ClinVar
PMID:23401279 PMID:24043634 PMID:24311251 PMID:24312213 PMID:25629078 PMID:25741868 PMID:28492532 PMID:30526585 PMID:36071541 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Tooth agenesis, selective, 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10615120 PMID:11781684 PMID:11827258 PMID:11941488 PMID:12605438 PMID:12786960 PMID:14571272 PMID:14607846 PMID:14689302 PMID:15615874 PMID:16191360 PMID:16479262 PMID:17910065 PMID:18414213 PMID:19429910 PMID:25741868 PMID:28492532 PMID:29023497 PMID:36071541 More...
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Tooth agenesis, selective, 3
ClinVar
PMID:11941488
NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27657131 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29271000 PMID:29314690 PMID:29364747 PMID:29758562 PMID:30046887 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:35537890 PMID:36071541 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Lrp6
LDL receptor related protein 6
ISO
ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: Tooth agenesis, selective, 7 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17332414 PMID:22813217 PMID:23033978 PMID:25741868 PMID:26387593 PMID:26963285 PMID:28492532 PMID:34306029 More...
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
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Wnt10b
Wnt family member 10B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tooth agenesis, selective, 8
OMIM CTD ClinVar
PMID:25741868 PMID:27321946 PMID:28492532
NCBI chr 7:129,922,088...129,927,892
Ensembl chr 7:129,922,088...129,927,892
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Grem2
gremlin 2, DAN family BMP antagonist
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tooth agenesis, selective, 9
OMIM CTD ClinVar
PMID:23401279 PMID:25741868 PMID:26416033
NCBI chr13:86,778,543...86,871,509
Ensembl chr13:86,778,500...86,871,615
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Eda
ectodysplasin-A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1
OMIM CTD ClinVar
PMID:8696334 PMID:9683615 PMID:16583127 PMID:17256800 PMID:18545687 PMID:18657636 PMID:19278982 PMID:19623212 PMID:24312213 PMID:25741868 PMID:26753551 PMID:27144394 PMID:27305980 PMID:27657131 PMID:28492532 More...
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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Slc10a7
solute carrier family 10, member 7
ISO
ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
OMIM ClinVar
PMID:25741868 PMID:29878199 PMID:30082715
NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
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Polr3gl
RNA polymerase III subunit GL
ISO
ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay
OMIM ClinVar
PMID:25741868 PMID:31089205 PMID:31695177
NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:27477329 PMID:27577878 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28606988 PMID:28716935 PMID:29018476 PMID:29270977 PMID:30219631 PMID:30564185 PMID:30707351 PMID:31069529 PMID:31178897 PMID:31898846 PMID:33440462 PMID:34185153 PMID:34539730 PMID:35754802 More...
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Rig1
RNA sensor RIG-1
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 2
OMIM ClinVar
PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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Shh
sonic hedgehog signaling molecule
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome
OMIM CTD ClinVar
PMID:9302262 PMID:11471164 PMID:12567406 PMID:15103725 PMID:15292211 PMID:25741868 PMID:28492532 PMID:32939873 More...
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Six3
SIX homeobox 3
ISO
ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome
ClinVar
PMID:18791198 PMID:19346217 PMID:20157829 PMID:26080100 PMID:26467025 PMID:28492532 More...
NCBI chr 6:9,039,017...9,043,336
Ensembl chr 6:9,036,434...9,053,301
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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:28492532
NCBI chr 1:244,426,892...244,514,188
Ensembl chr 1:244,426,896...244,514,163
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Lemd2
LEM domain nuclear envelope protein 2
ISO
ClinVar Annotator: match by term: Teeth, supernumerary
ClinVar
PMID:25741868 PMID:30905398
NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
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Rbm10
RNA binding motif protein 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: TARP syndrome
OMIM CTD ClinVar
PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 PMID:28492532 PMID:30462380 PMID:32812661 More...
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
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Kif4a
kinesin family member 4A
ISO
ClinVar Annotator: match by term: KIF4A-related condition | ClinVar Annotator: match by term: Taurodontism, microdontia, and dens invaginatus
OMIM ClinVar
PMID:271276 PMID:25741868 PMID:31616463
NCBI chr X:65,721,746...65,824,277
Ensembl chr X:65,721,779...65,824,139
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Chsy1
chondroitin sulfate synthase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome
OMIM CTD ClinVar
PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601
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Ankh
ANKH inorganic pyrophosphate transport regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18027777
NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10631169
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Lrp4
LDL receptor related protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16207730
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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Msx1
msh homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14630905
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Pax6
paired box 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7559133 PMID:9363853
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pitx2
paired-like homeodomain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10499585
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Runx2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14688224
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Slc39a13
solute carrier family 39 member 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18985159 PMID:22228435
NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226
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Tbx3
T-box transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9207801
NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708
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Tmco1
transmembrane and coiled-coil domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20018682
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Aak1
AP2 associated kinase 1
ISO
ClinVar Annotator: match by term: Tooth agenesis
ClinVar
NCBI chr 4:119,300,128...119,451,834
Ensembl chr 4:119,295,257...119,450,969
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Axin2
axin 2
ISO
ClinVar Annotator: match by term: Oligodontia
ClinVar
PMID:15042511 PMID:21416598 PMID:21626677 PMID:25637381 PMID:25741868 PMID:26467025 PMID:27300758 PMID:28492532 PMID:28944238 PMID:29371908 PMID:30374176 More...
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Bmp2
bone morphogenetic protein 2
ISO
DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human)
RGD
PMID:23079991
RGD:13446405
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Bmp4
bone morphogenetic protein 4
susceptibility
ISO
DNA:SNP: :rs17563(human) ClinVar Annotator: match by term: Tooth agenesis DNA:SNP:cds:c.455T>C(p.V152A)(human)
ClinVar RGD
PMID:26166641 PMID:23079991
RGD:13442494 , RGD:13446405
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Eda
ectodysplasin-A
ISO
ClinVar Annotator: match by term: Hypodontia
ClinVar
PMID:19623212 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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Edar
ectodysplasin-A receptor
ISO
ClinVar Annotator: match by term: Oligodontia
ClinVar
PMID:23210707
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Edaradd
EDAR associated via death domain
ISO
ClinVar Annotator: match by term: Tooth agenesis
ClinVar
PMID:25741868
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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Lrp6
LDL receptor related protein 6
ISO
ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis
ClinVar
PMID:22813217 PMID:23033978 PMID:25741868 PMID:26963285 PMID:28492532
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
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Msx1
msh homeobox 1
ISS ISO
OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926 ClinVar Annotator: match by term: Oligodontia
MouseDO ClinVar
PMID:24914010
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Pax9
paired box 9
ISS ISO
OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926 ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis
MouseDO ClinVar
PMID:14607846 PMID:16236760 PMID:16479262 PMID:25741868 PMID:28492532 PMID:29969831 More...
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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Pth1r
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Oligodontia
ClinVar
PMID:25741868
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Oligodontia
ClinVar
PMID:23210707
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Rfx2
regulatory factor X2
ISO
ClinVar Annotator: match by term: Tooth agenesis
ClinVar
NCBI chr 9:1,604,636...1,671,220
Ensembl chr 9:1,604,646...1,671,027
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Seh1l
SEH1-like nucleoporin
ISO
ClinVar Annotator: match by term: Tooth agenesis
ClinVar
NCBI chr18:61,346,986...61,369,987
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Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Tooth agenesis
ClinVar
PMID:25741868
NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
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Vps54
VPS54 subunit of GARP complex
ISO
ClinVar Annotator: match by term: Tooth agenesis
ClinVar
NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Reduced number of teeth | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis
ClinVar
PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 PMID:23401279 PMID:24033266 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30526585 PMID:30974434 PMID:35537890 PMID:36071541 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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C14h4orf50
similar to human chromosome 4 open reading frame 50
ISO
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532
NCBI chr14:73,561,209...73,646,151
Ensembl chr14:73,564,447...73,679,357
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Crmp1
collapsin response mediator protein 1
ISO
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532
NCBI chr14:73,509,933...73,556,192
Ensembl chr14:73,509,933...73,556,177
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Cytl1
cytokine like 1
ISO
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532
NCBI chr14:73,053,876...73,058,886
Ensembl chr14:73,053,877...73,058,886
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Evc
EvC ciliary complex subunit 1
ISO
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532
NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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Evc2
EvC ciliary complex subunit 2
ISO
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532
NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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Jakmip1
janus kinase and microtubule interacting protein 1
ISO
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532
NCBI chr14:73,646,299...73,766,830
Ensembl chr14:73,632,428...73,713,993
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Msx1
msh homeobox 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dysplasia of nails with hypodontia | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
OMIM CTD ClinVar
PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 PMID:14630905 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 PMID:23991204 PMID:25741868 PMID:25874811 PMID:27917906 PMID:28166811 PMID:28492532 PMID:30192788 More...
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Stk32b
serine/threonine kinase 32B
ISO
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532
NCBI chr14:73,077,944...73,337,976
Ensembl chr14:73,078,061...73,336,458
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Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar
PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Abcc3
ATP binding cassette subfamily C member 3
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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Abi3
ABI family, member 3
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,769,819...80,780,816
Ensembl chr10:80,769,822...80,780,816
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Acsf2
acyl-CoA synthetase family member 2
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,504,510...79,546,714
Ensembl chr10:79,504,511...79,546,673
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Ankrd40
ankyrin repeat domain 40
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,282,075...79,295,322
Ensembl chr10:79,282,075...79,295,320
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Atp5mc1
ATP synthase membrane subunit c locus 1
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:81,024,056...81,026,780
Ensembl chr10:81,023,925...81,027,124 Ensembl chr10:81,023,925...81,027,124
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B4galnt2
beta-1,4-N-acetyl-galactosaminyl transferase 2
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,801,594...80,828,005
Ensembl chr10:80,802,941...80,857,700
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Cacna1g
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
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Calcoco2
calcium binding and coiled-coil domain 2
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:81,055,467...81,069,298
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Chad
chondroadherin
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,512,170...79,515,941
Ensembl chr10:79,511,931...79,515,940
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 PMID:21520071 PMID:25741868 PMID:26104267 PMID:27924851 PMID:28492532 PMID:35714441 More...
NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Dlx4
distal-less homeobox 4
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,085,037...80,090,434
Ensembl chr10:80,085,465...80,090,456
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Eme1
essential meiotic structure-specific endonuclease 1
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,586,718...79,595,515
Ensembl chr10:79,586,729...79,595,435
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Epn3
epsin 3
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,438,978...79,449,516
Ensembl chr10:79,438,978...79,447,356
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Fam117a
family with sequence similarity 117, member A
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,281,411...80,325,345
Ensembl chr10:80,281,408...80,325,343
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Gip
gastric inhibitory polypeptide
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503
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Gngt2
G protein subunit gamma transducin 2
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,776,003...80,784,235
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Hoxb13
homeo box B13
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777
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Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129
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Itga3
integrin subunit alpha 3
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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Kat7
lysine acetyltransferase 7
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567
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Lrrc59
leucine rich repeat containing 59
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533
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Luc7l3
LUC7-like 3 pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,240,050...79,276,555
Ensembl chr10:79,240,563...79,276,538
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Mrpl27
mitochondrial ribosomal protein L27
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,595,459...79,601,242
Ensembl chr10:79,595,479...79,601,239
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Mycbpap
Mycbp associated protein
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,450,319...79,470,977
Ensembl chr10:79,450,324...79,470,828
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Ngfr
nerve growth factor receptor
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nxph3
neurexophilin 3
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,456,283...80,459,949
Ensembl chr10:80,455,429...80,462,415
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Pdk2
pyruvate dehydrogenase kinase 2
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085
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Phb1
prohibitin 1
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
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Phospho1
phosphoethanolamine/phosphocholine phosphatase 1
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,762,062...80,769,596
Ensembl chr10:80,760,792...80,770,342
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Ppp1r9b
protein phosphatase 1, regulatory subunit 9B
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
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Rsad1
radical S-adenosyl methionine domain containing 1
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,485,253...79,499,616
Ensembl chr10:79,489,909...79,499,573
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Samd14
sterile alpha motif domain containing 14
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341
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Sgca
sarcoglycan, alpha
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813
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Slc35b1
solute carrier family 35, member B1
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,327,921...80,335,279
Ensembl chr10:80,327,945...80,335,274
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Snf8
SNF8 subunit of ESCRT-II
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734
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Spata20
spermatogenesis associated 20
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,427,525...79,435,472
Ensembl chr10:79,427,528...79,434,368
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Spop
speckle type BTB/POZ protein
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955
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Tac4
tachykinin precursor 4
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,207,824...80,216,156
Ensembl chr10:80,207,610...80,216,156
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Tmem92
transmembrane protein 92
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,749,242...79,760,807
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Ttll6
tubulin tyrosine ligase like 6
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:81,081,985...81,118,009
Ensembl chr10:81,091,975...81,127,234
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Ube2z
ubiquitin-conjugating enzyme E2Z
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,997,816...81,016,936
Ensembl chr10:80,997,817...81,016,936
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Xylt2
xylosyltransferase 2
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391
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Zfp652
zinc finger protein 652
ISO
ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
ClinVar
PMID:25741868
NCBI chr10:80,626,555...80,706,397
Ensembl chr10:80,649,400...80,698,674
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability
OMIM CTD 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: Cleft lip and/or palate with mucous cysts of lower lip | 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:16199547 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:25579819 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:10677296 PMID:15372529 PMID:15558753 PMID:21204229 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 PMID:26969326 PMID:28492532 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: Glossoptosis, micrognathia, and cleft palate
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: Glossoptosis, micrognathia, and cleft palate
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: Glossoptosis, micrognathia, and cleft palate
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: Glossoptosis, micrognathia, and cleft palate
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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Evc
EvC ciliary complex subunit 1
ISO
ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7635486 PMID:9536098 PMID:10700184 PMID:16199547 PMID:17576681 PMID:18947413 PMID:19251731 PMID:19810119 PMID:19876929 PMID:23220543 PMID:25741868 PMID:27453244 PMID:28492532 More...
NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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Evc2
EvC ciliary complex subunit 2
ISO
ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16404586 PMID:17024374 PMID:18182642 PMID:19251731 PMID:19810119 PMID:19876929 PMID:23220543 PMID:25741868 PMID:26580685 PMID:28492532 More...
NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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Fam83h
family with sequence similarity 83, member H
ISO
ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
ClinVar
NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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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 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: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:36133075 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
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Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25915598
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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Kcnh1
potassium voltage-gated channel subfamily H member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Laband syndrome
CTD ClinVar
PMID:23020937 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:28492532 PMID:28628100 PMID:32581362 PMID:32860008 More...
NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO
ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1
ClinVar
PMID:18541964 PMID:23994350 PMID:25915598
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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Kcnh1
potassium voltage-gated channel subfamily H member 1
ISO
ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1
OMIM ClinVar
PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 PMID:25420144 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:27267311 PMID:28492532 PMID:28628100 PMID:32581362 PMID:32860008 PMID:33619735 More...
NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO
ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 | ClinVar Annotator: match by term: Zimmermann-Laband syndrome with epileptic encephalopathy
OMIM ClinVar
PMID:18541964 PMID:23994350 PMID:25741868 PMID:25915598
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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Kcnn3
potassium calcium-activated channel subfamily N member 3
ISO
ClinVar Annotator: match by term: Zimmermann-laband syndrome 3
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:31155282
NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
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