RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Stomatognathic System Abnormalities |
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Accession: | DOID:9006733
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browse the term
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Definition: | Congenital structural abnormalities of the mouth and jaws, including the dentition. |
Synonyms: | exact_synonym: | stomatognathic system abnormality |
| primary_id: | MESH:D018640 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Runx2 |
RUNX family transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20357738 |
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NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Ablepharon macrostomia syndrome |
OMIM ClinVar |
PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 PMID:21595001 PMID:25741868 PMID:26119818 More...
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NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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Tbx22 |
T-box transcription factor 22 |
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ISO |
ClinVar Annotator: match by term: Abruzzo-Erickson syndrome |
OMIM ClinVar |
PMID:839509 PMID:22784330 |
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NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome |
OMIM ClinVar |
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 PMID:11929852 PMID:16114047 PMID:16724007 PMID:17041931 PMID:17431922 PMID:18603493 PMID:18626511 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:25741868 PMID:27469932 PMID:28492532 More...
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Foxh1 |
forkhead box H1 |
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ISS |
OMIM:202650 |
MouseDO |
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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 |
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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...
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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 |
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ISS |
OMIM:202650 |
MouseDO |
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NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
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Acp4 |
acid phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:27843125 |
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NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
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Amelx |
amelogenin, X-linked |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar RGD |
PMID:8406474 |
RGD:1300370 |
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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Arhgap6 |
Rho GTPase activating protein 6 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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Bnc2 |
basonuclin 2 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426
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Chchd2l3 |
coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 3 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 9:94,500,439...94,501,110 NCBI chr 9:94,500,629...94,501,122
Ensembl chr 9:94,500,432...94,501,128
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Dlx3 |
distal-less homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Congenital enamel hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Enam |
enamelin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta |
CTD ClinVar |
PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532 |
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NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Fam20c |
FAM20C, golgi associated secretory pathway kinase |
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ISO |
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) |
RGD |
PMID:22732358 PMID:25928877 |
RGD:11560487, RGD:11560491 |
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Fam83h |
family with sequence similarity 83, member H |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18484629 PMID:19407157 |
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NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Gpr68 |
G protein-coupled receptor 68 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:27693231 |
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NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25669657 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Psph |
phosphoserine phosphatase |
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ISO |
ClinVar Annotator: match by term: Congenital enamel hypoplasia |
ClinVar |
PMID:28492532 |
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NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
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Sp6 |
Sp6 transcription factor |
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IMP |
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RGD |
PMID:22676574 |
RGD:10047189 |
NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013
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Wdr72 |
WD repeat domain 72 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:24033266 |
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NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 |
OMIM ClinVar |
PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 PMID:22243262 PMID:23355523 PMID:23625376 PMID:25741868 PMID:26502894 PMID:28473773 PMID:28492532 PMID:28659819 More...
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NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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Wdr72 |
WD repeat domain 72 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 |
OMIM ClinVar |
PMID:19853237 PMID:20938048 PMID:25741868 PMID:30028003 |
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NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Odaph |
odontogenesis associated phosphoprotein |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 |
OMIM ClinVar |
PMID:22901946 |
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NCBI chr14:16,071,835...16,084,210
Ensembl chr14:16,073,058...16,080,129
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Slc24a4 |
solute carrier family 24 member 4 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 |
OMIM ClinVar |
PMID:23375655 PMID:24621671 |
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NCBI chr 6:121,278,746...121,419,811
Ensembl chr 6:121,280,031...121,414,949
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Lamb3 |
laminin subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A |
OMIM ClinVar |
PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9205497 PMID:9242513 PMID:9767254 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:15311214 PMID:15538630 PMID:15663509 PMID:16439963 PMID:16473856 PMID:16674655 PMID:17476356 PMID:21801158 PMID:23632796 PMID:23958762 PMID:25708563 PMID:25741868 PMID:27062385 PMID:27375110 PMID:28492532 PMID:28830826 PMID:30544381 More...
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NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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Dlx3 |
distal-less homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Enam |
enamelin |
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ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
ClinVar OMIM RGD |
PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:22414746 PMID:25741868 PMID:28334996 PMID:28492532 PMID:31478359 PMID:11487571 More...
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RGD:1598908 |
NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Enam |
enamelin |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C |
OMIM ClinVar |
PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:28492532 More...
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NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive |
ClinVar |
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NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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Wdr72 |
WD repeat domain 72 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Amelx |
amelogenin, X-linked |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth |
OMIM ClinVar |
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 More...
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NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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Arhgap6 |
Rho GTPase activating protein 6 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth |
ClinVar |
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 More...
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NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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Ambn |
ameloblastin |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F |
OMIM ClinVar |
PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 |
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NCBI chr14:19,601,761...19,614,382
Ensembl chr14:19,601,702...19,614,393
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Fam20a |
FAM20A, golgi associated secretory pathway pseudokinase |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G |
OMIM ClinVar |
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 More...
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NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G |
ClinVar |
PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 More...
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Itgb6 |
integrin subunit beta 6 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H |
OMIM ClinVar |
PMID:24305999 PMID:24319098 PMID:25741868 |
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NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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Acp4 |
acid phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J |
OMIM ClinVar |
PMID:27843125 PMID:28513613 |
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NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
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Klk4 |
kallikrein-related peptidase 4 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 |
OMIM ClinVar |
PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:28611678 |
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NCBI chr 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424
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Gpr68 |
G protein-coupled receptor 68 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 |
ClinVar OMIM |
PMID:27693231 |
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NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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Fam83h |
family with sequence similarity 83, member H |
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ISO |
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA |
OMIM ClinVar |
PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 PMID:25741868 PMID:28492532 PMID:33034243 More...
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NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Amtn |
amelotin |
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ISO |
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OMIM |
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NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181
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Relt |
RELT, TNF receptor |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c |
OMIM ClinVar |
PMID:28492532 PMID:30506946 PMID:32052416 |
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NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
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Dlx3 |
distal-less homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia DNA:missense mutations:exon:multiple CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:28492532 PMID:11159940 More...
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RGD:11568643 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Axin2 |
axin 2 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic oligodontia |
ClinVar |
PMID:26406231 |
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NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Dkk1 |
dickkopf WNT signaling pathway inhibitor 1 |
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ISO |
DNA:SNP: :rs11001553 (human) |
RGD |
PMID:22984994 |
RGD:12738234 |
NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
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Eda |
ectodysplasin-A |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 PMID:26753551 PMID:27144394 PMID:28492532 More...
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NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Non-syndromic oligodontia |
ClinVar |
PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Gli3 |
GLI family zinc finger 3 |
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ISO |
DNA:SNP: :rs929387 (human) |
RGD |
PMID:22984994 |
RGD:12738234 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Irx5 |
iroquois homeobox 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22581230 |
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NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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Itpa |
inosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 |
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NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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Kdf1 |
keratinocyte differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
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NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19344874 PMID:25899461 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Mmp13 |
matrix metallopeptidase 13 |
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ISO |
DNA:SNP: :rs2252070 (human) |
RGD |
PMID:24351915 |
RGD:13204812 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
DNA:SNP: :rs17576 (human) |
RGD |
PMID:24351915 |
RGD:13204812 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Msx1 |
msh homeobox 1 |
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ISO |
autosomal dominant hypodontia, HYD1, OMIM:106600 CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:8696335 |
RGD:1600484 |
NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Pax9 |
paired box 9 |
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ISO |
ClinVar Annotator: match by term: Partial congenital absence of teeth |
ClinVar |
PMID:11827258 PMID:12605438 PMID:14607846 PMID:15615874 PMID:16236760 PMID:16479262 PMID:19429910 PMID:22581971 PMID:25741868 PMID:26571067 PMID:28492532 PMID:28847717 More...
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NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic oligodontia |
ClinVar |
PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28166811 PMID:28492532 PMID:32499604 More...
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development |
OMIM ClinVar |
PMID:25741868 PMID:29432562 |
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NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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G |
Atp6v1b2 |
ATPase H+ transporting V1 subunit B2 |
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ISO |
ClinVar Annotator: match by term: DDOD SYNDROME | ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant |
OMIM ClinVar |
PMID:24913193 PMID:25741868 PMID:28396750 |
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NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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G |
Dspp |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 DNA:missense mutations:cds:p.P17T, p.V18P (human) |
OMIM ClinVar RGD |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:11175790 More...
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RGD:12910984 |
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
Prickle1 |
prickle planar cell polarity protein 1 |
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ISS |
OMIM:268310 |
MouseDO |
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NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
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ISO |
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 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...
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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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G |
Foxc1 |
forkhead box C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Hmgn2 |
high mobility group nucleosomal binding domain 2 |
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ISS |
OMIM:180500 |
MouseDO |
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NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
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G |
Pax6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 PMID:28611552 PMID:29100920 PMID:29506241 PMID:30457409 PMID:31529555 More...
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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G |
Bche |
butyrylcholinesterase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16884476 |
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NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Foxe1 |
forkhead box E1 |
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ISO |
ClinVar Annotator: match by term: Bamforth-Lazarus syndrome | ClinVar Annotator: match by term: Hypothyroidism, thyroidal, with spiky hair and cleft palate CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 PMID:21177256 PMID:25381600 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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G |
Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Barber-Say syndrome |
OMIM ClinVar |
PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 PMID:20799330 PMID:20830793 PMID:25741868 PMID:26119818 PMID:27092433 PMID:28680619 More...
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NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE |
OMIM ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
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NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 |
OMIM ClinVar |
PMID:25691407 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Med25 |
mediator complex subunit 25 |
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ISO |
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome |
OMIM ClinVar |
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 |
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NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
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G |
Plekha5 |
pleckstrin homology domain containing A5 |
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ISO |
ClinVar Annotator: match by term: Bilateral cleft lip |
ClinVar |
PMID:25741868 |
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NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546
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G |
Cdh1 |
cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 |
OMIM ClinVar |
PMID:8033105 PMID:11747475 PMID:15235021 PMID:20373070 PMID:23709761 PMID:24033266 PMID:24728327 PMID:25067988 PMID:25123297 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26123647 PMID:26467025 PMID:27566442 PMID:27978560 PMID:28135145 PMID:28166811 PMID:28301459 PMID:28492532 PMID:28608266 PMID:28640387 PMID:28961279 PMID:29470806 PMID:29641532 PMID:29752822 PMID:30287823 PMID:31871109 PMID:32260281 PMID:32566746 More...
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NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Ctnnd1 |
catenin delta 1 |
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ISO |
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28301459 PMID:29805042 |
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NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome |
OMIM ClinVar |
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 PMID:19344874 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025 PMID:30887145 More...
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Lrp1 |
LDL receptor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Keratosis pilaris |
ClinVar |
PMID:25741868 PMID:26142438 PMID:28381441 |
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NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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G |
Mymk |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences |
OMIM ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
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NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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G |
Kynu |
kynureninase |
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ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME |
ClinVar |
PMID:25741868 PMID:31923704 PMID:33942433 |
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NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
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G |
Tgds |
TDP-glucose 4,6-dehydratase |
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ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome |
OMIM ClinVar |
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 PMID:26366375 More...
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NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554
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Ric1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
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ISO |
ClinVar Annotator: match by term: Catifa syndrome |
OMIM ClinVar |
PMID:25741868 PMID:27878435 PMID:31932796 |
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NCBI chr 1:227,285,510...227,384,553
Ensembl chr 1:227,285,210...227,382,863
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G |
Ccm2 |
CCM2 scaffold protein |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
OMIM ClinVar |
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 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:32860008 PMID:35307828 More...
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NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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G |
Nacad |
NAC alpha domain containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
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NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
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G |
Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
OMIM ClinVar |
PMID:9536098 PMID:15543491 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 PMID:25741868 PMID:26246098 PMID:26896283 PMID:28492532 PMID:30161288 More...
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NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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G |
Serpini1 |
serpin family I member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
PMID:18060436 PMID:20623299 PMID:28492532 |
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NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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G |
Snrpb |
small nuclear ribonucleoprotein polypeptides B and B1 |
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ISO |
ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome |
ClinVar OMIM |
PMID:25047197 PMID:25504470 PMID:26240113 PMID:26971886 |
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NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
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G |
Add1 |
adducin 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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G |
Atp5me |
ATP synthase membrane subunit e |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
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G |
Cplx1 |
complexin 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,184,638...1,216,392
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G |
Ctbp1 |
C-terminal binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
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G |
Dgkq |
diacylglycerol kinase, theta |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
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G |
Dok7 |
docking protein 7 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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G |
Fam193a |
family with sequence similarity 193, member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514
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G |
Fam53a |
family with sequence similarity 53, member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,088,178...77,124,395
Ensembl chr14:77,090,723...77,124,395
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Fgfrl1 |
fibroblast growth factor receptor-like 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
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G |
Gak |
cyclin G associated kinase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398
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G |
Grk4 |
G protein-coupled receptor kinase 4 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693
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G |
Haus3 |
HAUS augmin-like complex, subunit 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463
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G |
Hgfac |
HGF activator |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
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G |
Htt |
huntingtin |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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G |
Idua |
alpha-L-iduronidase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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G |
Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
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G |
Maea |
macrophage erythroblast attacher, E3 ubiquitin ligase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671
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G |
Mfsd10 |
major facilitator superfamily domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377
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G |
Msantd1 |
Myb/SANT DNA binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183
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G |
Mxd4 |
Max dimerization protein 4 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221
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G |
Nat8l |
N-acetyltransferase 8-like |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
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G |
Nelfa |
negative elongation factor complex member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,808,920...76,832,998
Ensembl chr14:76,808,870...76,832,994
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G |
Nkx1-1 |
NK1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,296,676...77,300,575
Ensembl chr14:77,296,796...77,300,036
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G |
Nop14 |
NOP14 nucleolar protein |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,081,318...76,102,454
Ensembl chr14:76,080,793...76,102,453
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G |
Nsd2 |
nuclear receptor binding SET domain protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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G |
Pcgf3 |
polycomb group ring finger 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793
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G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
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G |
Poln |
DNA polymerase nu |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463
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G |
RGD1560394 |
RGD1560394 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,768,145...76,769,774
Ensembl chr14:76,768,146...76,773,575
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G |
Rgs12 |
regulator of G-protein signaling 12 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596
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G |
Rit1 |
Ras-like without CAAX 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
|
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NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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G |
Rnf212 |
ring finger protein 212 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831
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G |
Rnf4 |
ring finger protein 4 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566
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G |
Sh3bp2 |
SH3-domain binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar OMIM RGD |
PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:16786512 PMID:17321449 PMID:17576681 PMID:18596838 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:28166811 PMID:28492532 PMID:28644570 PMID:30236129 PMID:11381256 More...
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RGD:1599339 |
NCBI chr14:76,176,097...76,213,331
Ensembl chr14:76,176,101...76,213,251
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G |
Slbp |
stem-loop binding protein |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906
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G |
Slc26a1 |
solute carrier family 26 member 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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G |
Slc49a3 |
solute carrier family 49 member 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132
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G |
Spon2 |
spondin 2 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996
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G |
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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G |
Tmem129 |
transmembrane protein 129, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,065,391...77,070,871
Ensembl chr14:77,065,841...77,070,865
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G |
Tmem175 |
transmembrane protein 175 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819
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|
G |
Tnip2 |
TNFAIP3 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,228,283...76,246,609
Ensembl chr14:76,228,371...76,275,265
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G |
Uvssa |
UV-stimulated scaffold protein A |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903
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G |
Zfyve28 |
zinc finger FYVE-type containing 28 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20436469 |
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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G |
Adamts20 |
ADAM metallopeptidase with thrombospondin type 1 motif, 20 |
|
ISO |
Cleft lip with or without cleft palate |
OMIA |
PMID:13875838 PMID:19115787 PMID:25798845 PMID:28738009 PMID:31682628 |
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NCBI chr 7:125,396,227...125,528,020
Ensembl chr 7:125,397,734...125,527,777
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G |
Arhgap29 |
Rho GTPase activating protein 29 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate |
ClinVar |
PMID:25741868 |
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NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028
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G |
Bhmt2 |
betaine-homocysteine S-methyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475
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G |
Bmp4 |
bone morphogenetic protein 4 |
susceptibility |
ISO |
DNA:polymorphism:cds:p.V152A(human) ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant DNA:SNP: : rs17563 (p.V152A)(human) |
ClinVar RGD |
PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 PMID:25741868 PMID:28492532 PMID:18771417 PMID:23227324 More...
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RGD:13442495, RGD:13442497 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Cdh1 |
cadherin 1 |
susceptibility |
ISO |
DNA:splice-site mutation: :531+2T>A (human) ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar RGD |
PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 PMID:15831593 More...
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RGD:1599548 |
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Ctnnd1 |
catenin delta 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:25741868 PMID:29805042 |
|
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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G |
Esrp2 |
epithelial splicing regulatory protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
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NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726
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G |
Fgf1 |
fibroblast growth factor 1 |
|
ISO |
DNA:SNP: :rs34010 (human) |
RGD |
PMID:24613087 |
RGD:11567264 |
NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
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G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Fgf3 |
fibroblast growth factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
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G |
Fgf7 |
fibroblast growth factor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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G |
Fgf9 |
fibroblast growth factor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs13317 (human) |
CTD RGD |
PMID:17963255 PMID:24613087 |
RGD:11567264 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Gdf6 |
growth differentiation factor 6 |
|
ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
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G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
van der Woude syndrome, OMIM:119300 ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:17041601 PMID:18836445 PMID:20436469 PMID:28492532 PMID:12219090 |
RGD:1600214 |
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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G |
Kif7 |
kinesin family member 7 |
|
ISO |
DNA:SNPs:introns:rs4932238,rs4932240(human) |
RGD |
PMID:26602496 |
RGD:11553833 |
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Mafb |
MAF bZIP transcription factor B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20436469 |
|
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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G |
Msx1 |
msh homeobox 1 |
|
ISO |
DNA:mutations, SNPs:multiple (human) |
RGD |
PMID:12807959 |
RGD:5132609 |
NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
susceptibility no_association |
ISO |
DNA:SNP:cds:1958G>A(human) |
RGD |
PMID:25129243 PMID:18261183 |
RGD:12910961, RGD:12910962 |
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :c.677C>T(human) |
CTD RGD |
PMID:16470725 PMID:27387868 |
RGD:11565179 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mthfs |
methenyltetrahydrofolate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859337 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 |
RGD |
PMID:10932188 |
RGD:1599795 |
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Nog |
noggin |
susceptibility |
ISO |
DNA:SNP: :rs227731(human) DNA:SNP: : rs227727 (human) |
RGD |
PMID:25339627 PMID:25704602 |
RGD:12801482, RGD:11251786 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Ntn1 |
netrin 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate |
ClinVar |
|
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NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326
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G |
Plekha5 |
pleckstrin homology domain containing A5 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
|
NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546
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G |
Plekha7 |
pleckstrin homology domain containing A7 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate |
ClinVar |
PMID:29805042 |
|
NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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G |
Pomt1 |
protein-O-mannosyltransferase 1 |
|
ISO |
associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon |
RGD |
PMID:18640039 |
RGD:11532685 |
NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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G |
Ptch1 |
patched 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16405370 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Sdc2 |
syndecan 2 |
|
ISO |
|
RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081
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G |
Slc19a1 |
solute carrier family 19 member 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP: :80G>A(human) |
CTD RGD |
PMID:21254359 PMID:18797703 |
RGD:11565176 |
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17576140 |
|
NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
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G |
Sumo1 |
small ubiquitin-like modifier 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant |
CTD ClinVar |
PMID:16990542 |
|
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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G |
Tcn2 |
transcobalamin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16470748 |
|
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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G |
Tp63 |
tumor protein p63 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant |
CTD ClinVar |
PMID:16688749 |
|
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Tyms |
thymidylate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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|
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:25741868 PMID:28492532 More...
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|
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Amer1 |
APC membrane recruitment protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 |
|
NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
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G |
Bhmt2 |
betaine-homocysteine S-methyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
|
NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475
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G |
Bnc2 |
basonuclin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19706529 |
|
NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:insertion |
CTD RGD |
PMID:9787075 PMID:9787075 |
RGD:11576291 |
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Cbfb |
core-binding factor subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17022082 |
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NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10346820 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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G |
Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
DNA:SNPs, haplotypes: :multiple DNA:SNPs, haplotypes: :rs3129208 (human) |
RGD |
PMID:20672350 PMID:22112025 |
RGD:12436724, RGD:12904711 |
NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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G |
Col2a1 |
collagen type II alpha 1 chain |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP,haplotype:intron:rs1793949(human) |
CTD RGD |
PMID:15562585 PMID:20672350 |
RGD:12436724 |
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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G |
Dlg1 |
discs large MAGUK scaffold protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11238884 |
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NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689
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G |
Dnah11 |
dynein, axonemal, heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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G |
Egf |
epidermal growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11399798 |
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NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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G |
Fgf10 |
fibroblast growth factor 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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G |
Fgf2 |
fibroblast growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Fgf3 |
fibroblast growth factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
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G |
Fgf7 |
fibroblast growth factor 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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G |
Fgf8 |
fibroblast growth factor 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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G |
Fgf9 |
fibroblast growth factor 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 PMID:29526646 |
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963255 |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:11704759 PMID:11992261 PMID:12612583 PMID:15917206 PMID:16538226 PMID:20979190 PMID:22465605 PMID:25741868 PMID:31942422 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Flnb |
filamin B |
susceptibility |
ISO |
DNA:SNPs:: |
RGD |
PMID:20634891 |
RGD:12791026 |
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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G |
Fzd4 |
frizzled class receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
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NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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G |
Gata6 |
GATA binding protein 6 |
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ISO |
protein:decreased expression:secondary palatal shelf (mouse) |
RGD |
PMID:27391658 |
RGD:13208933 |
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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G |
Gdf6 |
growth differentiation factor 6 |
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ISO |
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RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO |
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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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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 More...
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Golgb1 |
golgin B1 |
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ISS |
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MouseDO |
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NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
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G |
Inpp1 |
inositol polyphosphate-1-phosphatase |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
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NCBI chr 9:48,688,037...48,717,793
Ensembl chr 9:48,669,901...48,717,793
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G |
Irf6 |
interferon regulatory factor 6 |
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ISO |
van der Woude syndrome, OMIM:119300 DNA:SNPs, haplotype: :rs9430018, rs17389541 (human) ClinVar Annotator: match by term: Cleft palate CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:12920575 PMID:17041601 PMID:25741868 PMID:12219090 PMID:20672350 |
RGD:1600214, RGD:12436724 |
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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G |
Kif7 |
kinesin family member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21552264 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Mnt |
MAX network transcriptional repressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15028671 |
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NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
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G |
Msx1 |
msh homeobox 1 |
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ISO |
DNA:mutations, SNPs:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12163415 PMID:12701100 PMID:15301380 PMID:12807959 |
RGD:5132609 |
NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
susceptibility |
ISO |
DNA:SNP:cds:1958 G>A (rs2236225)(human) |
RGD |
PMID:18661527 |
RGD:12914151 |
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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G |
Mthfs |
methenyltetrahydrofolate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859337 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 |
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NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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G |
Myo19 |
myosin XIX |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 |
RGD |
PMID:10932188 |
RGD:1599795 |
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27694961 |
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NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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G |
Nek9 |
NIMA-related kinase 9 |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
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NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
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G |
Nfia |
nuclear factor I/A |
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ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
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NCBI chr 5:112,436,655...112,781,878
Ensembl chr 5:112,436,644...112,775,885
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Pax9 |
paired box 9 |
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ISO |
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RGD |
PMID:17097601 |
RGD:12801424 |
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18264099 |
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NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:30345601 |
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NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
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RGD |
PMID:12975342 |
RGD:12910559 |
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Ptch1 |
patched 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16405370 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Rarg |
retinoic acid receptor, gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21807577 |
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NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
susceptibility |
ISO |
DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) |
RGD |
PMID:22490406 |
RGD:11535950 |
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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G |
Ryk |
receptor-like tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10932185 |
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NCBI chr 8:103,419,348...103,492,083
Ensembl chr 8:103,419,275...103,491,698
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G |
Satb2 |
SATB homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft palate | ClinVar Annotator: match by term: nonsyndromic cleft palate |
CTD ClinVar |
PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 PMID:28492532 PMID:29023086 PMID:32581362 More...
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NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
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G |
Sdc2 |
syndecan 2 |
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ISO |
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RGD |
PMID:18716610 |
RGD:12798509 |
NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:17097601 |
RGD:12801424 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Shox2 |
short stature homeobox 2 |
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ISO |
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RGD |
PMID:16141225 |
RGD:12859081 |
NCBI chr 2:151,217,049...151,227,180
Ensembl chr 2:151,217,552...151,227,143
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G |
Sim2 |
SIM bHLH transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12203729 |
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NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
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G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:28973083 |
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17576140 |
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NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
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G |
Sumo1 |
small ubiquitin-like modifier 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16990542 |
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NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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G |
Tbx22 |
T-box transcription factor 22 |
|
ISO |
cleft palate with ankyloglossia, OMIM:303400 ClinVar Annotator: match by term: Cleft palate |
ClinVar RGD |
PMID:25741868 PMID:12374769 |
RGD:724722 |
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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G |
Tenm4 |
teneurin transmembrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
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NCBI chr 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450421 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25450421 |
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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G |
Tgfb3 |
transforming growth factor, beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7493022 PMID:26971374 PMID:17097601 |
RGD:12801424 |
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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G |
Tmco1 |
transmembrane and coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 |
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NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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G |
Tnfrsf13b |
TNF receptor superfamily member 13B |
|
ISO |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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G |
Tp63 |
tumor protein p63 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11462173 |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Tyms |
thymidylate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21254359 |
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NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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G |
Tbx22 |
T-box transcription factor 22 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate with ankyloglossia |
ClinVar |
PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 |
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NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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G |
Meis2 |
Meis homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25741868 PMID:27225850 PMID:28492532 PMID:30055086 PMID:30291340 More...
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NCBI chr 3:102,742,905...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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G |
Lrrc32 |
leucine rich repeat containing 32 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:30976112 |
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NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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G |
Kdm1a |
lysine demethylase 1A |
|
ISO |
ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies |
OMIM ClinVar |
PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 |
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NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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Bmp4 |
bone morphogenetic protein 4 |
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ISS |
OMIM:119550 |
MouseDO |
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Cleft soft palate |
ClinVar |
PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 PMID:29178448 More...
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NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISS |
OMIM:119570 |
MouseDO |
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Runx2 |
RUNX family transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only |
ClinVar |
PMID:10545612 |
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NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Lonp1 |
lon peptidase 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: CODAS syndrome |
OMIM ClinVar |
PMID:1887855 PMID:5574826 PMID:25574826 PMID:25741868 PMID:25741869 PMID:25808063 PMID:27878435 PMID:28492532 More...
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NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
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Arid1a |
AT-rich interaction domain 1A |
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ISS ISO |
OMIM:135900 ClinVar Annotator: match by term: Coffin-Siris syndrome |
MouseDO ClinVar |
PMID:25741868 |
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NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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Arid1b |
AT-rich interaction domain 1B |
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ISO |
DNA:frameshift,nonsense mutations, haploinsufficiency:cds: ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar RGD |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:24674232 |
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 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability |
ClinVar |
PMID:18414213 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:27701467 PMID:28166811 PMID:28492532 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Arid1a |
AT-rich interaction domain 1A |
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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:25741868 |
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NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 |
OMIM ClinVar |
PMID:10361086 PMID:15057123 PMID:18414213 PMID:22405089 PMID:22426308 PMID:22426309 PMID:23815551 PMID:23906836 PMID:23929686 PMID:24674232 PMID:25326635 PMID:25473036 PMID:25674384 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26822237 PMID:27474218 PMID:27570168 PMID:27824329 PMID:28323383 PMID:28492532 PMID:28708303 PMID:29286531 PMID:30504930 PMID:31132234 PMID:32860008 PMID:33098347 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 PMID:29429572 |
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NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:27701467 PMID:28166811 PMID:28492532 More...
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NCBI 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 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 10 |
OMIM ClinVar |
PMID:25741868 PMID:30661772 |
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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 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 11 |
OMIM ClinVar |
PMID:25741868 PMID:30879640 |
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NCBI 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 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 12 |
OMIM ClinVar |
PMID:25741868 PMID:25741870 PMID:33232675 |
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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 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 More...
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NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
OMIM ClinVar |
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 PMID:23906836 PMID:23929686 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:28492532 PMID:30123105 More...
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NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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Hr |
HR, lysine demethylase and nuclear receptor corepressor |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:21919222 PMID:23548463 PMID:25741868 |
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NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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Derl3 |
derlin 3 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Mmp11 |
matrix metallopeptidase 11 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
OMIM ClinVar |
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 PMID:23906836 PMID:24993163 PMID:25168959 PMID:25169651 PMID:25326635 PMID:25462860 PMID:25741868 PMID:25981829 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy |
OMIM ClinVar |
PMID:9536098 PMID:10601012 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:23637025 PMID:23929686 PMID:24658001 PMID:24658002 PMID:24728327 PMID:25058500 PMID:25231023 PMID:25275049 PMID:25326635 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26467025 PMID:26580448 PMID:26901136 PMID:27701467 PMID:28166811 PMID:28202063 PMID:28492532 PMID:28873162 PMID:28973083 PMID:30111351 PMID:30973214 PMID:31097095 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 5 |
OMIM ClinVar |
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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G |
Arid2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 6 |
OMIM ClinVar |
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 7 |
OMIM ClinVar |
PMID:25741868 PMID:29429572 PMID:31207137 |
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NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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G |
Smarcc2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition |
OMIM ClinVar |
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 |
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NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
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Sox11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 9 |
OMIM ClinVar |
PMID:24886874 PMID:25741868 PMID:32860008 |
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) |
OMIM ClinVar |
PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 PMID:25741868 PMID:28492532 PMID:31336982 PMID:33187236 More...
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NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
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Tubb5 |
tubulin, beta 5 class I |
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ISO |
ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 |
OMIM ClinVar |
PMID:12239728 PMID:23324645 PMID:25741868 PMID:26637975 |
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NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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Mapre2 |
microtubule-associated protein, RP/EB family, member 2 |
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ISO |
ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 |
OMIM ClinVar |
PMID:19182162 PMID:21262397 PMID:26637975 |
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NCBI chr18:15,028,675...15,169,553
Ensembl chr18:15,029,041...15,168,044
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Igbp1 |
immunoglobulin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
OMIM ClinVar |
PMID:14556245 PMID:25741868 |
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NCBI chr X:65,582,832...65,605,078
Ensembl chr X:65,582,821...65,606,049
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G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies |
OMIM ClinVar |
PMID:21741611 PMID:25741868 PMID:34906502 |
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NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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Cftr |
CF transmembrane conductance regulator |
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IMP |
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RGD |
PMID:31942562 |
RGD:126928119 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Cftrem1Ang |
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang |
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IMP |
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RGD |
PMID:31942562 |
RGD:126928119 |
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Cftrem2Ang |
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang |
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IMP |
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RGD |
PMID:31942562 |
RGD:126928119 |
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G |
Dspp |
dentin sialophosphoprotein |
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ISO ISS |
mRNA:decreased expression:incisor, molar (mouse) ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN OMIM:125400 | OMIM:125420 |
ClinVar MouseDO RGD |
PMID:25741868 PMID:28492532 PMID:11116156 |
RGD:734904 |
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Smoc2 |
SPARC related modular calcium binding 2 |
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ISS |
OMIM:125400 | OMIM:125420 |
MouseDO |
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NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
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G |
Ssuh2 |
ssu-2 homolog |
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ISS |
OMIM:125400 | OMIM:125420 |
MouseDO |
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NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
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G |
Smoc2 |
SPARC related modular calcium binding 2 |
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ISO |
ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth |
OMIM ClinVar |
PMID:22152679 PMID:23317772 PMID:25741868 |
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NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
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Dspp |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human) ClinVar Annotator: match by term: Dentinogenesis imperfecta |
ClinVar RGD |
PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:24668929 PMID:25741868 PMID:25944380 PMID:27509835 PMID:28492532 PMID:29807018 PMID:11286811 More...
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RGD:11571615 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Dentinogenesis imperfecta |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:11317364 PMID:17078022 PMID:19344236 PMID:23227268 PMID:25944380 PMID:26788535 PMID:27510842 PMID:28492532 PMID:30152103 PMID:30886339 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Dspp |
dentin sialophosphoprotein |
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ISO |
mRNA:decreased expression:incisor, molar (mouse) ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin DNA:snp:intron:g.87612175G>A (human) |
ClinVar OMIM RGD |
PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:18456718 PMID:19131317 PMID:22392858 PMID:25741868 PMID:27993330 PMID:28492532 PMID:11116156 PMID:11175790 More...
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RGD:734904, RGD:12910984 |
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Dspp |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human) |
OMIM ClinVar RGD |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 PMID:15690376 More...
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RGD:12911015 |
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
Satb1 |
SATB homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies |
OMIM ClinVar |
PMID:25741868 PMID:33513338 |
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NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis |
OMIM ClinVar |
PMID:15941723 PMID:16628197 PMID:16774985 PMID:16917092 PMID:20716751 PMID:20940358 PMID:21606396 PMID:22795705 PMID:22949226 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25525159 PMID:25741868 PMID:26187847 PMID:26332594 PMID:26604139 PMID:26833927 PMID:27000522 PMID:27532257 PMID:28166811 PMID:28492532 PMID:28527814 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Gordon syndrome |
OMIM ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:30285720 PMID:31680123 More...
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Dentoleukoencephalopathy |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 More...
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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G |
Eda |
ectodysplasin-A |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar OMIM RGD |
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26345974 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:30117778 PMID:31306530 PMID:31796081 PMID:31924237 PMID:8696334 More...
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RGD:1598881 |
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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G |
Eda2r |
ectodysplasin A2 receptor |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar |
PMID:22889853 |
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NCBI chr X:62,224,763...62,269,344
Ensembl chr X:62,228,229...62,269,268
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G |
Ccdc138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant |
ClinVar OMIM RGD |
PMID:9536098 PMID:10431241 PMID:11035039 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28492532 PMID:28981473 PMID:33205897 PMID:10431241 More...
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RGD:1598883 |
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Edaradd |
EDAR-associated death domain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
CTD ClinVar |
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 |
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant |
ClinVar |
PMID:9536098 PMID:10431241 PMID:11035039 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28492532 PMID:28981473 PMID:33205897 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Ccdc138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
OMIM ClinVar |
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:22032522 PMID:23401279 PMID:24033266 PMID:24641098 PMID:25741868 PMID:28265457 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Edaradd |
EDAR-associated death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:22032522 PMID:23401279 PMID:24033266 PMID:24641098 PMID:25741868 PMID:28265457 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Edaradd |
EDAR-associated death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
OMIM ClinVar |
PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25640679 PMID:25741868 PMID:28492532 More...
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Edaradd |
EDAR-associated death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
OMIM ClinVar |
PMID:9245989 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26991760 PMID:28492532 More...
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Kdf1 |
keratinocyte differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type |
ClinVar OMIM |
PMID:27838789 |
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NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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G |
Cst6 |
cystatin E/M |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type |
OMIM ClinVar |
PMID:25741868 PMID:30425301 |
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NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 DNA:mutation:splicing site: |
OMIM ClinVar RGD |
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:29077208 PMID:16333836 More...
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RGD:12791265 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Nfkbia |
NFKB inhibitor alpha |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
OMIM ClinVar |
PMID:14523047 PMID:15337789 PMID:17931563 PMID:18412279 PMID:23708964 PMID:23864385 PMID:23870671 PMID:24033266 PMID:25741868 PMID:26888281 PMID:27577878 PMID:28166811 PMID:28417298 PMID:28492532 PMID:29948576 More...
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NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Tp63 |
tumor protein p63 |
susceptibility |
ISO |
DNA:frameshift mutation, missense mutations: :multiple ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.Q16X (human) DNA:missense mutations:exon:p.R280C, p.R304Q (human) DNA:missense mutation:exon:p.R279H (835G>A) |
ClinVar CTD OMIM RGD |
PMID:8737655 PMID:9028452 PMID:9443880 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:17041931 PMID:17431922 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30655312 PMID:10535733 PMID:26470833 PMID:12161593 PMID:11903230 More...
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RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Tp63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome DNA:missense mutation:exon:p.A346G (c.1037C>G) (human) DNA:frameshift mutation, missense mutations:exon:multiple DNA:missense mutations: :multiple DNA:missense mutation:exon:p.R280C (955C>T) (human) DNA:missense mutation:exon:p.R318H (mouse) |
CTD ClinVar RGD |
PMID:8737655 PMID:9443880 PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12939657 PMID:16691622 PMID:17041931 PMID:17431922 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:25983622 PMID:11462173 PMID:19903181 PMID:15324320 PMID:23775923 More...
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RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Alx1 |
ALX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Frontonasal dysplasia 3 |
OMIM ClinVar |
PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 |
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NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
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G |
Antxr1 |
ANTXR cell adhesion molecule 1 |
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ISO |
DNA:missense mutations:cds:c.505C>T,c.262C>T (human) ClinVar Annotator: match by term: Gapo syndrome |
ClinVar OMIM RGD |
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 PMID:25741868 PMID:28492532 PMID:23602711 More...
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RGD:9684854 |
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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G |
Abca5 |
ATP binding cassette subfamily A member 5 |
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ISO |
ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis |
OMIM ClinVar |
PMID:24831815 PMID:25741868 |
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NCBI chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976
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G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO ISS |
OMIM:135300 | OMIM:605544 | OMIM:609955 | OMIM:611010 ClinVar Annotator: match by term: Gingival fibromatosis |
MouseDO ClinVar RGD |
PMID:25741868 PMID:11868160 |
RGD:1580011 |
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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G |
Zfp862 |
zinc finger protein 862 |
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ISO |
ClinVar Annotator: match by term: Gingival fibromatosis |
ClinVar |
PMID:25741868 |
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NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995
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G |
Rest |
RE1-silencing transcription factor |
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ISO |
ClinVar Annotator: match by term: Fibromatosis, gingival, 1 |
ClinVar |
PMID:28492532 PMID:28686854 |
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NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
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G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1 |
OMIM ClinVar |
PMID:11868160 PMID:14551916 PMID:16267129 PMID:17143282 PMID:17143285 PMID:17586837 PMID:18651097 PMID:18678287 PMID:18854871 PMID:18925667 PMID:18972187 PMID:19020799 PMID:19077116 PMID:19352411 PMID:19953625 PMID:20133692 PMID:20186801 PMID:20305546 PMID:20493809 PMID:20607846 PMID:20673819 PMID:20683980 PMID:21041952 PMID:21274610 PMID:21340158 PMID:21387466 PMID:21784453 PMID:22190897 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22494877 PMID:22585553 PMID:22589294 PMID:23487764 PMID:23665959 PMID:23673306 PMID:23885229 PMID:24033266 PMID:24037001 PMID:24451042 PMID:24458522 PMID:24522193 PMID:24803665 PMID:25073238 PMID:25337068 PMID:25712082 PMID:25741868 PMID:25802880 PMID:25862627 PMID:25864170 PMID:26214590 PMID:26297936 PMID:26467025 PMID:26580448 PMID:26686981 PMID:26918529 PMID:27153395 PMID:27236105 PMID:27304678 PMID:27763634 PMID:28166811 PMID:28378436 PMID:28492532 PMID:28957739 PMID:29037749 PMID:29402968 PMID:29493581 PMID:29625050 PMID:29696744 PMID:29752777 PMID:30266093 PMID:30784236 PMID:34008892 More...
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NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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G |
Rest |
RE1-silencing transcription factor |
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ISO |
ClinVar Annotator: match by term: Fibromatosis, gingival, 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28686854 PMID:33719663 |
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NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
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G |
Ano5 |
anoctamin 5 |
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ISO |
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions DNA:missense mutations:exon:p.C356R, p.C356G (human) DNA:missense mutation:exon:p.T513I (c.1538C>T) (human) |
OMIM ClinVar RGD |
PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 PMID:16199547 PMID:17008331 PMID:17132147 PMID:17576681 PMID:18414213 PMID:20096397 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: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:27447704 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27884173 PMID:27911336 PMID:28187523 PMID:28492532 PMID:28888072 PMID:29124309 PMID:29382405 PMID:29792937 PMID:30564623 PMID:30919934 PMID:31350120 PMID:31353849 PMID:31395899 PMID:31791368 PMID:31931849 PMID:32367299 PMID:32419263 PMID:32528171 PMID:32819793 PMID:34008892 PMID:15124103 PMID:23047743 More...
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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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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome |
OMIM ClinVar |
PMID:9286458 PMID:20301719 PMID:25741868 PMID:33244166 |
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NCBI chr X:66,404,622...66,427,772
Ensembl chr X:66,404,760...66,428,387
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C |
ClinVar |
PMID:9398847 PMID:12402331 PMID:16086329 PMID:16088892 PMID:16141001 PMID:19105186 PMID:21031596 PMID:25525159 PMID:25741868 PMID:26387595 PMID:26467025 PMID:27302843 PMID:28492532 PMID:30733538 PMID:31374812 PMID:31831025 More...
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NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C |
OMIM ClinVar |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 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:19105186 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27302843 PMID:27872819 PMID:27882258 PMID:28454995 PMID:28468868 PMID:28492532 PMID:30362618 PMID:30733538 PMID:31374812 PMID:31831025 More...
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
ClinVar Annotator: match by term: Heimler syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate |
OMIM ClinVar |
PMID:15605412 PMID:16757108 PMID:16764984 PMID:19504604 PMID:20536592 PMID:23657145 PMID:23812909 PMID:24204987 PMID:24888332 PMID:25064402 PMID:25326635 PMID:25741868 PMID:26931467 PMID:28492532 PMID:31474318 More...
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Eda |
ectodysplasin-A |
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ISS ISO |
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic 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...
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RGD:14398763 |
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 |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar |
PMID:22889853 |
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NCBI chr X:62,224,763...62,269,344
Ensembl chr X:62,228,229...62,269,268
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Edar |
ectodysplasin-A receptor |
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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...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Edaradd |
EDAR-associated death domain |
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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...
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RGD:14398762 |
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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EdaraddswhKyo |
EDAR-associated death domain;swh Kyo mutant |
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IAGP |
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RGD |
PMID:22013926 |
RGD:14398762 |
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Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISS |
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 |
MouseDO |
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Ranbp2 |
RAN binding protein 2 |
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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...
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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 |
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ISS |
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 |
MouseDO |
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NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
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Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 PMID:23401279 PMID:24033266 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28166811 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30974434 More...
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NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: 4H LEUKODYSTROPHY 1 | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
OMIM ClinVar |
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:28459997 PMID:28492532 PMID:29618326 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 PMID:31940116 PMID:32214227 PMID:32582862 PMID:32860008 More...
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Polr3b |
RNA polymerase III subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
CTD 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...
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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 |
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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 |
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NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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Ctbp1 |
C-terminal binding protein 1 |
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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...
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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 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus |
OMIM ClinVar |
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Isolated cleft palate |
ClinVar |
PMID:25741868 |
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NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028
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Grhl3 |
grainyhead-like transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Isolated cleft palate |
ClinVar |
PMID:27018475 PMID:28492532 |
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NCBI chr 5:147,774,160...147,806,338
Ensembl chr 5:147,774,160...147,806,160
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Pdgfra |
platelet derived growth factor receptor alpha |
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ISO |
ClinVar Annotator: match by term: Isolated cleft palate |
ClinVar |
PMID:22473090 PMID:24728327 PMID:27153395 PMID:28492532 |
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NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Satb2 |
SATB homeobox 2 |
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ISS ISO |
OMIM:119540 ClinVar Annotator: match by term: Isolated cleft palate |
MouseDO ClinVar |
PMID:25326635 PMID:25533962 PMID:25741868 PMID:26596517 PMID:29023086 PMID:32581362 More...
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NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
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Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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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 More...
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12183386 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18519639 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770608 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16580747 |
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NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
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Twsg1 |
twisted gastrulation BMP signaling modulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15013800 |
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NCBI chr 9:105,533,116...105,567,525
Ensembl chr 9:105,533,136...105,567,479
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Ankrd11 |
ankyrin repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies |
OMIM ClinVar |
PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19920853 PMID:21782149 PMID:23463723 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:28166811 PMID:28449295 PMID:28492532 PMID:28708303 PMID:30202406 PMID:30945278 PMID:32238909 PMID:32581362 PMID:33955014 More...
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NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Setd5 |
SET domain containing 5 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
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NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Tbx1 |
T-box transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: KBG syndrome |
ClinVar |
PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7981752 PMID:8218237 PMID:9016532 PMID:9066888 PMID:9468540 PMID:10406661 PMID:11297324 PMID:12995812 PMID:17078022 PMID:19344236 PMID:23188137 PMID:25741868 PMID:28492532 PMID:30408610 More...
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NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Adcy9 |
adenylate cyclase 9 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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Cdip1 |
cell death-inducing p53 target 1 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980
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Coro7 |
coronin 7 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
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Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161
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Glis2 |
GLIS family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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Hmox2 |
heme oxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
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LOC100361104 |
CG10869-like |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,707,529...10,750,893
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Mgrn1 |
mahogunin ring finger 1 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
OMIM 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...
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NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452
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Septin12 |
septin 12 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,572,146...10,574,339
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Srl |
sarcalumenin |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518
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Vasn |
vasorin |
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ISO |
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Levy-Hollister syndrome |
OMIM ClinVar |
PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868 |
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NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
OMIM ClinVar |
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16158432 PMID:16440883 PMID:16501574 PMID:16838304 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 More...
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
OMIM ClinVar |
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16501574 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:20453470 PMID:21510009 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28483234 PMID:28492532 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Chst3 |
carbohydrate sulfotransferase 3 |
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ISO |
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr20:28,114,387...28,152,046
Ensembl chr20:28,114,404...28,121,807
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Larsen syndrome |
ClinVar |
PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10777366 PMID:11055896 PMID:11754059 PMID:12707965 PMID:16912704 PMID:18198189 PMID:22045636 PMID:23149434 PMID:23165795 PMID:24715719 PMID:25614871 PMID:25741868 PMID:26380986 PMID:28492532 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 PMID:17576681 PMID:18322662 PMID:21620354 PMID:22190451 PMID:24123776 PMID:25741868 PMID:26491051 PMID:27048506 PMID:28492532 More...
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17163535 |
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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 |
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ISO |
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome |
OMIM ClinVar |
PMID:24033266 PMID:25583476 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31780696 More...
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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 |
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IDA |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16832597 |
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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 |
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ISS |
OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 |
MouseDO |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meier-Gorlin syndrome |
CTD ClinVar |
PMID:21358632 |
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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 |
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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...
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NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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