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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Tooth Abnormalities
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Accession:DOID:9009007 term browser browse the term
Definition:Congenital absence of or defects in structures of the teeth.
Synonyms:exact_synonym: Odontome;   Odontomes;   Teeth Abnormalities;   teeth abnormality;   tooth abnormality
 primary_id: MESH:D014071
 alt_id: RDO:0000709



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Tooth Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18027777 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10631169 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7559133 PMID:9363853 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688224 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 PMID:22228435 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226
JBrowse link
G Tbx3 T-box transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207801 NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20018682 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
amelogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
JBrowse link
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
RGD
PMID:8406474 RGD:1300370 NCBI chr  X:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663
JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:98,679,071...99,016,044
Ensembl chr 5:98,687,410...99,079,426
JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755
JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
JBrowse link
G Enam enamelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta
CTD
ClinVar
PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532 NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358 PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
JBrowse link
G Klk4 kallikrein-related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 1:94,344,195...94,349,425
Ensembl chr 1:94,344,195...94,349,424
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta
CTD
ClinVar
PMID:25669657 PMID:35998423 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
JBrowse link
G Relt RELT, TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
JBrowse link
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949
JBrowse link
G Sp6 Sp6 transcription factor IMP RGD PMID:22676574 RGD:10047189 NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
JBrowse link
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp20 matrix metallopeptidase 20 ISO
ISS
OMIM:612529
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
OMIM
MouseDO
CTD
ClinVar
PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
JBrowse link
amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr72 WD repeat domain 72 ISO
ISS
OMIM:613211
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3
OMIM
MouseDO
CTD
ClinVar
PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
JBrowse link
amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22901946 PMID:25741868 NCBI chr14:16,071,835...16,080,151
Ensembl chr14:16,073,058...16,080,129
JBrowse link
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a4 solute carrier family 24 member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5
OMIM
CTD
ClinVar
PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949
JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 PMID:24319098 More... NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632
JBrowse link
G Lamb3 laminin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A
OMIM
CTD
ClinVar
PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
JBrowse link
amelogenesis imperfecta type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:28492532 NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
JBrowse link
G Enam enamelin ISO
ISS
OMIM:104500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B
MouseDO
CTD
ClinVar
OMIM
RGD
PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 More... RGD:1598908 NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
JBrowse link
amelogenesis imperfecta type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked ISO
ISS
OMIM:301200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth
OMIM
MouseDO
CTD
ClinVar
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663
JBrowse link
amelogenesis imperfecta type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambn ameloblastin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr14:19,601,761...19,614,382
Ensembl chr14:19,601,702...19,614,393
JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
OMIM
CTD
ClinVar
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
amelogenesis imperfecta type 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H
OMIM
CTD
ClinVar
PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
JBrowse link
amelogenesis imperfecta type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J
OMIM
CTD
ClinVar
PMID:25741868 PMID:27843125 PMID:28513613 NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
JBrowse link
Amelogenesis Imperfecta Type 1K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sp6 Sp6 transcription factor ISO OMIM NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013
JBrowse link
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk4 kallikrein-related peptidase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1
OMIM
CTD
ClinVar
PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr 1:94,344,195...94,349,425
Ensembl chr 1:94,344,195...94,349,424
JBrowse link
amelogenesis imperfecta type 2A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr68 G protein-coupled receptor 68 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6
OMIM
CTD
ClinVar
PMID:25741868 PMID:27693231 NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
JBrowse link
amelogenesis imperfecta type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA
OMIM
CTD
ClinVar
PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
JBrowse link
amelogenesis imperfecta type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amtn amelotin ISO OMIM NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181
JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relt RELT, TNF receptor ISO
ISS
OMIM:618386
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c
OMIM
MouseDO
ClinVar
PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
JBrowse link
amelogenesis imperfecta type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV
OMIM
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
JBrowse link
anodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:26406231 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 More... NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874 PMID:25899461 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Msx1 msh homeobox 1 ISO autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:8696335 RGD:1600484 NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:11827258 PMID:12605438 PMID:14571272 PMID:14607846 PMID:16236760 More... NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:11827258 PMID:28492532 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
JBrowse link
Anodontia of Permanent Dentition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sbds Sbds, ribosome maturation factor ISO ClinVar Annotator: match by term: Anodontia of permanent dentition ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO
ISS
OMIM:124480
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM
MouseDO
CTD
ClinVar
PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human)
OMIM
CTD
ClinVar
RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
JBrowse link
G Ap1ar adaptor-related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013
JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242
JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO
ISS
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10051017 PMID:10490637 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
JBrowse link
G Tifa TRAF-interacting protein with forkhead-associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841
JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 susceptibility ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 ClinVar
OMIM
PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
JBrowse link
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO
ISS
OMIM:601216
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris | ClinVar Annotator: match by term: Ulerythema ophryogenesis ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: CODAS syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1887855 PMID:5574826 PMID:25574826 PMID:25741868 PMID:25741869 More... NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
OMIM
CTD
ClinVar
PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 More... NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187
JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies
OMIM
CTD
ClinVar
PMID:21741611 PMID:25741868 PMID:34906502 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
dental enamel hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator IMP RGD PMID:31942562 RGD:126928119 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang IMP RGD PMID:31942562 RGD:126928119
G Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang IMP RGD PMID:31942562 RGD:126928119
dentin dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO mRNA:decreased expression:incisor, molar (mouse)
ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:11116156 RGD:734904 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
G Ssuh2 ssu-2 homolog ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
JBrowse link
Dentin Dysplasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smoc2 SPARC related modular calcium binding 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth
OMIM
CTD
ClinVar
PMID:22152679 PMID:23317772 PMID:25741868 NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
JBrowse link
Dentin Dysplasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II
OMIM
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
dentinogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human)
ClinVar Annotator: match by term: Dentinogenesis imperfecta
ClinVar
RGD
PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More... RGD:11571615 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16705691 PMID:17078022 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Dspp dentin sialophosphoprotein ISO
ISS
mRNA:decreased expression:incisor, molar (mouse)
OMIM:125490 | OMIM:125500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin
DNA:snp:intron:g.87612175G>A (human)
MouseDO
CTD
ClinVar
OMIM
RGD
PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:16199547 More... RGD:734904, RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
Dentinogenesis Imperfecta, Shields Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta
DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human)
OMIM
CTD
ClinVar
RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 More... RGD:12911015 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33513338 PMID:34782754 NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:614258 PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
CTD
ClinVar
OMIM
RGD
PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:15013427 More... RGD:1598883 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Edaradd EDAR associated via death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CTD
ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:15013427 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
OMIM
CTD
ClinVar
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
OMIM
CTD
ClinVar
PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar
PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More... NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar
PMID:25741868 PMID:30425301 NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:
OMIM
ClinVar
CTD
RGD
PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
JBrowse link
G Fam177a1 family with sequence similarity 177, member A1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
JBrowse link
GAPO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAPO syndrome
OMIM
CTD
ClinVar
RGD
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... RGD:9684854 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISS
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
MouseDO
ClinVar
RGD
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:14398763 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Edar ectodysplasin-A receptor ISS
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO
ClinVar
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Edaradd EDAR associated via death domain IAGP
ISO
DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar
RGD
PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 More... RGD:14398762 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP RGD PMID:22013926 RGD:14398762
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Traf6 TNF receptor associated factor 6 ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
hypomyelinating leukodystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
G Polr3b RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD
ClinVar
PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome OMIM
ClinVar
PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29878067 More... NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar
PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
JBrowse link
KBG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO
ISS
ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
OMIM:148050
CTD Direct Evidence: marker/mechanism
DNA:deletions, SNPs:CDS:multiple (human)
DNA:mutations:CDS:multiple (human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 More... RGD:11068938, RGD:11086621 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
JBrowse link
G C19h16orf95 similar to human chromosome 16 open reading frame 95 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702
JBrowse link
G Car5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
JBrowse link
G Cdk10 cyclin-dependent kinase 10 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Pabpn1l PABPN1 like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
JBrowse link
G Spata2L spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835 NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029
JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,282,337...50,324,010 JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
JBrowse link
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
JBrowse link
G C10h16orf96 similar to human chromosome 16 open reading frame 96 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,707,529...10,750,893 JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980
JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891
JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,854,732...10,880,171
Ensembl chr10:10,854,732...10,880,161
JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192
JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370
JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
JBrowse link
G Rogdi rogdi atypical leucine zipper ISO
ISS
OMIM:226750
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
OMIM
MouseDO
CTD
ClinVar
PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452
JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,572,146...10,574,339 JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518
JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
JBrowse link
lacrimoauriculodentodigital syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISS
ISO
OMIM:149730
ClinVar Annotator: match by term: Levy-Hollister syndrome
MouseDO
ClinVar
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome OMIM
ClinVar
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
lacrimoauriculodentodigital syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 OMIM
ClinVar
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
lacrimoauriculodentodigital syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 OMIM
ClinVar
PMID:15654336 PMID:16501574 PMID:16630169 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
CTD
ClinVar
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Larsen syndrome, dominant type ClinVar PMID:25741868 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link
Nance-Horan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816
JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,365,748...33,389,773 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807
JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091
JBrowse link
G Nhs NHS actin remodeling regulator ISO
ISS
DNA:snp, insertion, nonsense mutations:multiple (human)
ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome
OMIM:302350
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:458526 PMID:2246772 PMID:9536098 PMID:14564667 PMID:15466011 More... RGD:1598795 NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466
JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,893,100...32,912,686
Ensembl chr  X:32,894,327...32,911,366
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742
JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747
JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO
ISS
DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
OMIM:164200 | OMIM:257850
CTD Direct Evidence: marker/mechanism
DNA:mutation:cd:p.G138R(mouse)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
JBrowse link
Oculoskeletodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31034465 NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472
JBrowse link
Odontochondrodysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Goldblatt syndrome OMIM
ClinVar
PMID:20089971 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324 NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
JBrowse link
Odontochondrodysplasia 2 with Hearing Loss and Diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mia3 MIA SH3 domain ER export factor 3 ISO OMIM NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
JBrowse link
Odontoonychodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Odontoonychodermal dysplasia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
Oligodontia-Colorectal Cancer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 More... NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Gna13 G protein subunit alpha 13 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774
JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
JBrowse link
osteogenesis imperfecta type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,504,510...79,546,714
Ensembl chr10:79,504,511...79,546,673
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO
ISS
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
OMIM:166200
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
OMIM
ClinVar
MouseDO
PMID:1445258 PMID:1460046 PMID:1634225 PMID:1718984 PMID:1737847 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth ClinVar PMID:458828 PMID:1634225 PMID:1642148 PMID:1978725 PMID:1990009 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:26478226 More... NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
JBrowse link
G Eme1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,586,718...79,595,515
Ensembl chr10:79,586,729...79,595,435
JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533
JBrowse link
G Mrpl27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,595,459...79,601,242
Ensembl chr10:79,595,479...79,601,239
JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085
JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7695699 PMID:7942841 PMID:8218237 PMID:9016532 PMID:9295084 More... NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813
JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,749,242...79,760,807 JBrowse link
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
Selective Tooth Agenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 1 ClinVar PMID:19555857 PMID:20002458 PMID:21737554 PMID:25741868 PMID:26387786 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 1 OMIM
ClinVar
PMID:8696335 PMID:9742121 PMID:10742093 PMID:12097313 PMID:15264286 More... NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
Selective Tooth Agenesis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 10 OMIM
ClinVar
PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
JBrowse link
Selective Tooth Agenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:25741868 PMID:30526585 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:25741868 NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:23401279 PMID:24043634 PMID:24311251 PMID:24312213 PMID:25629078 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
Selective Tooth Agenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10615120 PMID:11781684 PMID:11827258 PMID:11941488 PMID:12605438 More... NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 3 ClinVar PMID:11941488 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
JBrowse link
Selective Tooth Agenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
Selective Tooth Agenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: Tooth agenesis, selective, 7
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17332414 PMID:22813217 PMID:23033978 PMID:25741868 PMID:26387593 More... NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
JBrowse link
Selective Tooth Agenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10b Wnt family member 10B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tooth agenesis, selective, 8
OMIM
CTD
ClinVar
PMID:25741868 PMID:27321946 PMID:28492532 NCBI chr 7:129,922,088...129,927,892
Ensembl chr 7:129,922,088...129,927,892
JBrowse link
Selective Tooth Agenesis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grem2 gremlin 2, DAN family BMP antagonist ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tooth agenesis, selective, 9
OMIM
CTD
ClinVar
PMID:23401279 PMID:25741868 PMID:26416033 NCBI chr13:86,778,543...86,871,509
Ensembl chr13:86,778,500...86,871,615
JBrowse link
Selective Tooth Agenesis, X-Linked, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1
OMIM
CTD
ClinVar
PMID:8696334 PMID:9683615 PMID:16583127 PMID:17256800 PMID:18545687 More... NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a7 solute carrier family 10, member 7 ISO ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar
PMID:25741868 PMID:29878199 PMID:30082715 NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
JBrowse link
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay OMIM
ClinVar
PMID:25741868 PMID:31089205 PMID:31695177 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 More... NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar
PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
JBrowse link
solitary median maxillary central incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome
OMIM
CTD
ClinVar
PMID:9302262 PMID:11471164 PMID:12567406 PMID:15103725 PMID:15292211 More... NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome ClinVar PMID:18791198 PMID:19346217 PMID:20157829 PMID:26080100 PMID:26467025 More... NCBI chr 6:9,039,017...9,043,336
Ensembl chr 6:9,036,434...9,053,301
JBrowse link
Supernumerary Tooth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Teeth, supernumerary ClinVar PMID:25741868 PMID:30905398 NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
JBrowse link
Taurodontism, Microdontia, and Dens Invaginatus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: KIF4A-related condition | ClinVar Annotator: match by term: Taurodontism, microdontia, and dens invaginatus OMIM
ClinVar
PMID:271276 PMID:25741868 PMID:31616463 NCBI chr  X:65,721,746...65,824,277
Ensembl chr  X:65,721,779...65,824,139
JBrowse link
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chsy1 chondroitin sulfate synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome
OMIM
CTD
ClinVar
PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601
JBrowse link
tooth agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aak1 AP2 associated kinase 1 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr 4:119,300,128...119,451,834
Ensembl chr 4:119,295,257...119,450,969
JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:15042511 PMID:21416598 PMID:21626677 PMID:25637381 PMID:25741868 More... NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human) RGD PMID:23079991 RGD:13446405 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human)
ClinVar Annotator: match by term: Tooth agenesis
DNA:SNP:cds:c.455T>C(p.V152A)(human)
ClinVar
RGD
PMID:26166641 PMID:23079991 RGD:13442494, RGD:13446405 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypodontia ClinVar PMID:19623212 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:22813217 PMID:23033978 PMID:25741868 PMID:26963285 PMID:28492532 NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
JBrowse link
G Msx1 msh homeobox 1 ISS
ISO
OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Oligodontia
MouseDO
ClinVar
PMID:24914010 NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Pax9 paired box 9 ISS
ISO
OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis
MouseDO
ClinVar
PMID:14607846 PMID:16236760 PMID:16479262 PMID:25741868 PMID:28492532 More... NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:25741868 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Rfx2 regulatory factor X2 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr 9:1,604,636...1,671,220
Ensembl chr 9:1,604,646...1,671,027
JBrowse link
G Seh1l SEH1-like nucleoporin ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr18:61,346,986...61,369,987 JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
JBrowse link
G Vps54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Reduced number of teeth | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
tooth and nail syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14h4orf50 similar to human chromosome 4 open reading frame 50 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr14:73,561,209...73,646,151
Ensembl chr14:73,564,447...73,679,357
JBrowse link
G Crmp1 collapsin response mediator protein 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr14:73,509,933...73,556,192
Ensembl chr14:73,509,933...73,556,177
JBrowse link
G Cytl1 cytokine like 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr14:73,053,876...73,058,886
Ensembl chr14:73,053,877...73,058,886
JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
JBrowse link
G Jakmip1 janus kinase and microtubule interacting protein 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr14:73,646,299...73,766,830
Ensembl chr14:73,632,428...73,713,993
JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysplasia of nails with hypodontia | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
OMIM
CTD
ClinVar
PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 More... NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Stk32b serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr14:73,077,944...73,337,976
Ensembl chr14:73,078,061...73,336,458
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
trichodontoosseous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc3 ATP binding cassette subfamily C member 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
JBrowse link
G Abi3 ABI family, member 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,769,819...80,780,816
Ensembl chr10:80,769,822...80,780,816
JBrowse link
G Acsf2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,504,510...79,546,714
Ensembl chr10:79,504,511...79,546,673
JBrowse link
G Ankrd40 ankyrin repeat domain 40 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,282,075...79,295,322
Ensembl chr10:79,282,075...79,295,320
JBrowse link
G Atp5mc1 ATP synthase membrane subunit c locus 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:81,024,056...81,026,780
Ensembl chr10:81,023,925...81,027,124
Ensembl chr10:81,023,925...81,027,124
JBrowse link
G B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,801,594...80,828,005
Ensembl chr10:80,802,941...80,857,700
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
JBrowse link
G Calcoco2 calcium binding and coiled-coil domain 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:81,055,467...81,069,298 JBrowse link
G Chad chondroadherin ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,512,170...79,515,941
Ensembl chr10:79,511,931...79,515,940
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
JBrowse link
G Dlx4 distal-less homeobox 4 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,085,037...80,090,434
Ensembl chr10:80,085,465...80,090,456
JBrowse link
G Eme1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,586,718...79,595,515
Ensembl chr10:79,586,729...79,595,435
JBrowse link
G Epn3 epsin 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,438,978...79,449,516
Ensembl chr10:79,438,978...79,447,356
JBrowse link
G Fam117a family with sequence similarity 117, member A ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,281,411...80,325,345
Ensembl chr10:80,281,408...80,325,343
JBrowse link
G Gip gastric inhibitory polypeptide ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503
JBrowse link
G Gngt2 G protein subunit gamma transducin 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,776,003...80,784,235 JBrowse link
G Hoxb13 homeo box B13 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777
JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129
JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
JBrowse link
G Kat7 lysine acetyltransferase 7 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567
JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533
JBrowse link
G Luc7l3 LUC7-like 3 pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,240,050...79,276,555
Ensembl chr10:79,240,563...79,276,538
JBrowse link
G Mrpl27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,595,459...79,601,242
Ensembl chr10:79,595,479...79,601,239
JBrowse link
G Mycbpap Mycbp associated protein ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,450,319...79,470,977
Ensembl chr10:79,450,324...79,470,828
JBrowse link
G Ngfr nerve growth factor receptor ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Nxph3 neurexophilin 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,456,283...80,459,949
Ensembl chr10:80,455,429...80,462,415
JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085
JBrowse link
G Phb1 prohibitin 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
JBrowse link
G Phospho1 phosphoethanolamine/phosphocholine phosphatase 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,762,062...80,769,596
Ensembl chr10:80,760,792...80,770,342
JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
JBrowse link
G Rsad1 radical S-adenosyl methionine domain containing 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,485,253...79,499,616
Ensembl chr10:79,489,909...79,499,573
JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813
JBrowse link
G Slc35b1 solute carrier family 35, member B1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,327,921...80,335,279
Ensembl chr10:80,327,945...80,335,274
JBrowse link
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734
JBrowse link
G Spata20 spermatogenesis associated 20 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,427,525...79,435,472
Ensembl chr10:79,427,528...79,434,368
JBrowse link
G Spop speckle type BTB/POZ protein ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955
JBrowse link
G Tac4 tachykinin precursor 4 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,207,824...80,216,156
Ensembl chr10:80,207,610...80,216,156
JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,749,242...79,760,807 JBrowse link
G Ttll6 tubulin tyrosine ligase like 6 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:81,081,985...81,118,009
Ensembl chr10:81,091,975...81,127,234
JBrowse link
G Ube2z ubiquitin-conjugating enzyme E2Z ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,997,816...81,016,936
Ensembl chr10:80,997,817...81,016,936
JBrowse link
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391
JBrowse link
G Zfp652 zinc finger protein 652 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,626,555...80,706,397
Ensembl chr10:80,649,400...80,698,674
JBrowse link
Weyers acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7635486 PMID:9536098 PMID:10700184 PMID:16199547 PMID:17576681 More... NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16404586 PMID:17024374 PMID:18182642 PMID:19251731 PMID:19810119 More... NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
JBrowse link
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Stomatognathic Diseases 1335
      Stomatognathic System Abnormalities 568
        Tooth Abnormalities 281
          AREDYLD Syndrome 0
          Ackerman Syndrome 0
          Book Syndrome 0
          CODAS syndrome 1
          Carabelli Anomaly of Maxillary Molar Teeth 0
          Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 0
          Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
          Craniosynostosis and Dental Anomalies 1
          DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES 1
          Dens in Dente + 0
          Dermoodontodysplasia 0
          Diastema + 0
          Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
          Euhidrotic Ectodermal Dysplasia 0
          Fused Teeth 0
          Grubben de Cock Borghgraef Syndrome 0
          HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
          Hypoglossia-Hypodactylia 0
          KBG syndrome 42
          LADD syndrome + 3
          Larsen syndrome 4
          Lethal Faciocardiomelic Dysplasia 0
          Nance-Horan syndrome 17
          Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum 0
          Oculoskeletodental Syndrome 1
          Oculotrichodysplasia 0
          Odd Shapes of Teeth 0
          Odontodysplasia + 3
          Odontomicronychial Dysplasia 0
          Odontotrichoungual-Digital-Palmar Syndrome 0
          Oroacral Syndrome, Verloes-Koulischer Type 0
          Otodental Dysplasia 0
          Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
          Rodrigues Blindness 0
          Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
          Supernumerary Tooth + 1
          Taurodontism + 1
          Taurodontism, Microdontia, and Dens Invaginatus 1
          Tricho-Dento-Osseous Syndrome 1 0
          Weyers acrofacial dysostosis 2
          Zazam Sheriff Phillips Syndrome 0
          anodontia + 72
          anterior segment dysgenesis 4 1
          autosomal dominant congenital deafness with onychodystrophy 1
          blepharocheilodontic syndrome + 2
          dental enamel hypoplasia + 110
          dentin dysplasia + 3
          dentinogenesis imperfecta + 17
          oculodentodigital dysplasia + 2
          temtamy preaxial brachydactyly syndrome 1
          tooth agenesis + 22
Path 2
Term Annotations click to browse term
  disease 21155
    Pathological Conditions, Signs and Symptoms 13316
      Signs and Symptoms 10798
        Neurologic Manifestations 10029
          sensory system disease 6928
            mouth disease 1011
              tooth disease 442
                Tooth Abnormalities 281
                  AREDYLD Syndrome 0
                  Ackerman Syndrome 0
                  Book Syndrome 0
                  CODAS syndrome 1
                  Carabelli Anomaly of Maxillary Molar Teeth 0
                  Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 0
                  Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
                  Craniosynostosis and Dental Anomalies 1
                  DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES 1
                  Dens in Dente + 0
                  Dermoodontodysplasia 0
                  Diastema + 0
                  Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
                  Euhidrotic Ectodermal Dysplasia 0
                  Fused Teeth 0
                  Grubben de Cock Borghgraef Syndrome 0
                  HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
                  Hypoglossia-Hypodactylia 0
                  KBG syndrome 42
                  LADD syndrome + 3
                  Larsen syndrome 4
                  Lethal Faciocardiomelic Dysplasia 0
                  Nance-Horan syndrome 17
                  Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum 0
                  Oculoskeletodental Syndrome 1
                  Oculotrichodysplasia 0
                  Odd Shapes of Teeth 0
                  Odontodysplasia + 3
                  Odontomicronychial Dysplasia 0
                  Odontotrichoungual-Digital-Palmar Syndrome 0
                  Oroacral Syndrome, Verloes-Koulischer Type 0
                  Otodental Dysplasia 0
                  Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
                  Rodrigues Blindness 0
                  Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
                  Supernumerary Tooth + 1
                  Taurodontism + 1
                  Taurodontism, Microdontia, and Dens Invaginatus 1
                  Tricho-Dento-Osseous Syndrome 1 0
                  Weyers acrofacial dysostosis 2
                  Zazam Sheriff Phillips Syndrome 0
                  anodontia + 72
                  anterior segment dysgenesis 4 1
                  autosomal dominant congenital deafness with onychodystrophy 1
                  blepharocheilodontic syndrome + 2
                  dental enamel hypoplasia + 110
                  dentin dysplasia + 3
                  dentinogenesis imperfecta + 17
                  oculodentodigital dysplasia + 2
                  temtamy preaxial brachydactyly syndrome 1
                  tooth agenesis + 22
paths to the root