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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 4:14,401,681...14,559,342
Ensembl chr 4:14,408,116...14,559,454 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10631169 NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704 		JBrowse link
G LRP4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 1:18,393,489...18,474,514
Ensembl chr 1:18,413,513...18,471,444 		JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006 		JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7559133 PMID:9363853 NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		JBrowse link
G PITX2 paired like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585 NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688224 NCBI chr17:26,679,386...26,807,812
Ensembl chr17:26,683,175...26,807,319 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 PMID:22228435 NCBI chr 1:17,899,349...17,907,165
Ensembl chr 1:17,899,030...17,905,850 		JBrowse link
G TBX3 T-box transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207801 NCBI chr11:109,952,100...109,966,328
Ensembl chr11:109,952,054...109,965,065 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20018682 NCBI chr25:63,110,626...63,150,602
Ensembl chr25:63,110,772...63,150,017 		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: ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME | ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome OMIM
ClinVar		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chr15:83,861,489...84,126,675 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 6:43,838,103...43,843,715
Ensembl chr 6:43,838,321...43,843,654 		JBrowse link
G AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:9,927,740...9,934,104
Ensembl chr  X:9,741,594...9,745,776
Ensembl chr  X:9,741,594...9,745,776 		JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
G BNC2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chr12:62,775,827...63,233,077
Ensembl chr12:62,777,045...63,223,696 		JBrowse link
G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr21:2,675,522...2,680,406 JBrowse link
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545 		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 chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626 		JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095 		JBrowse link
G ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:19,138,789...19,158,136
Ensembl chr 7:19,141,116...19,156,759 		JBrowse link
G FAM83H family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394 		JBrowse link
G GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr24:68,998,721...69,027,237
Ensembl chr24:68,998,805...68,999,902 		JBrowse link
G KLK4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:43,921,920...43,935,224
Ensembl chr 6:43,922,052...43,934,253 		JBrowse link
G LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684 		JBrowse link
G LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753 		JBrowse link
G LOC103246914 FAM20C golgi associated secretory pathway kinase ISO Dental hypomineralization
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)		 OMIA
RGD		 PMID:22732358 PMID:25928877 PMID:27187611 PMID:27803843 RGD:11560487 RGD:11560491 NCBI chr28:21,299,235...21,371,603
Ensembl chr28:21,299,213...21,371,577 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:35998423 NCBI chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740 		JBrowse link
G PSPH phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr21:2,728,490...2,761,805
Ensembl chr21:2,753,284...2,757,008 		JBrowse link
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr 1:64,620,843...64,641,180
Ensembl chr 1:64,633,421...64,640,019 		JBrowse link
G SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr24:70,068,924...70,242,148
Ensembl chr24:70,179,850...70,239,517 		JBrowse link
G SP6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chr16:68,243,319...68,276,951
Ensembl chr16:68,247,695...68,248,825 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754 		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 ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 OMIM
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 1:93,946,136...93,997,656
Ensembl chr 1:93,947,582...93,996,815 		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 ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3 OMIM
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754 		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 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chr 7:24,062,924...24,073,371
Ensembl chr 7:24,063,695...24,072,500 		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 ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr24:70,068,924...70,242,148
Ensembl chr24:70,179,850...70,239,517 		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, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545 		JBrowse link
G LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684 		JBrowse link
amelogenesis imperfecta type 1B 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 - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545 		JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095 		JBrowse link
G ENAM enamelin ISO 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 OMIM
ClinVar		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... NCBI chr 7:19,138,789...19,158,136
Ensembl chr 7:19,141,116...19,156,759 		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 OMIM
ClinVar		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr 7:19,138,789...19,158,136
Ensembl chr 7:19,141,116...19,156,759 		JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 1:93,946,136...93,997,656
Ensembl chr 1:93,947,582...93,996,815 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754 		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 ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:9,927,740...9,934,104
Ensembl chr  X:9,741,594...9,745,776
Ensembl chr  X:9,741,594...9,745,776 		JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | 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...
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: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr 7:19,107,182...19,121,992
Ensembl chr 7:19,107,299...19,122,285 		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 ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr16:52,955,411...53,017,263
Ensembl chr16:52,955,714...53,016,909 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493 		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 ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr10:45,506,355...45,650,979
Ensembl chr10:45,504,987...45,595,543 		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 ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chr 6:43,838,103...43,843,715
Ensembl chr 6:43,838,321...43,843,654 		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 chr16:68,243,319...68,276,951
Ensembl chr16:68,247,695...68,248,825 		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 ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition OMIM
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr 6:43,921,920...43,935,224
Ensembl chr 6:43,922,052...43,934,253 		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 ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr24:68,998,721...69,027,237
Ensembl chr24:68,998,805...68,999,902 		JBrowse link
amelogenesis imperfecta type 3 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: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394 		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 ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394 		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 ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 7:18,982,101...19,041,207 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 ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition OMIM
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 1:64,620,843...64,641,180
Ensembl chr 1:64,633,421...64,640,019 		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 ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition OMIM
ClinVar		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095 		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 chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281 		JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr 9:78,836,803...78,840,158
Ensembl chr 9:78,835,162...78,840,146 		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:59,453,157...59,861,555 JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 NCBI chr  X:56,527,838...56,574,646
Ensembl chr  X:56,531,860...56,574,448 		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 chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238 		JBrowse link
G IRX5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 5:40,705,061...40,708,749 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:30542205 PMID:30856165 More... NCBI chr 2:33,873,231...33,893,329
Ensembl chr 2:33,873,339...33,893,556 		JBrowse link
G KDF1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 NCBI chr20:105,803,540...105,814,461
Ensembl chr20:105,811,182...105,816,004 		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 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MSX1 msh homeobox 1 ISO autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8696335 RGD:1600484 NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006 		JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:9536098 PMID:11827258 PMID:12605438 PMID:12786960 PMID:14571272 More... NCBI chr24:13,454,839...13,470,564
Ensembl chr24:13,455,589...13,473,505 		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 chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		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 chr24:13,472,050...13,974,991
Ensembl chr24:13,473,395...13,680,176 		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 chr28:2,527,395...2,535,152
Ensembl chr28:2,527,020...2,535,147 		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 OMIM
ClinVar		 PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:25741868 More... NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318 		JBrowse link
AURONEURODENTAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr22:11,680,189...11,688,678
Ensembl chr22:11,679,585...11,682,972 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998
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 ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant OMIM
ClinVar		 PMID:24913193 PMID:25741868 PMID:28396750 PMID:30311386 PMID:31581539 More... NCBI chr 8:18,264,210...18,289,951
Ensembl chr 8:18,264,329...18,293,444 		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 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 OMIM
ClinVar		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... NCBI chr 7:35,993,669...35,999,443 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 7:60,096,755...60,233,569
Ensembl chr 7:60,202,204...60,236,743 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519 		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 7:60,029,576...60,069,199
Ensembl chr 7:60,052,140...60,071,815 		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 7:59,953,872...59,983,789
Ensembl chr 7:59,953,976...59,984,360 		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 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080 		JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 7:60,296,442...60,299,093
Ensembl chr 7:60,297,586...60,298,404 		JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM
ClinVar		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318 		JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 7:67,985,387...68,207,113
Ensembl chr 7:67,987,359...68,206,893 		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 7:60,074,764...60,085,029
Ensembl chr 7:60,076,999...60,077,556 		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 7:60,322,709...60,407,026
Ensembl chr 7:60,322,750...60,403,124 		JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103233229 cadherin-1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar		 PMID:2449335 PMID:3028782 PMID:8075649 PMID:9537325 PMID:9744472 More... NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541 		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 | ClinVar Annotator: match by term: CTNND1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28301459 PMID:28492532 PMID:29805042 PMID:32196547 More... NCBI chr 1:15,408,581...15,466,457
Ensembl chr 1:15,411,454...15,466,456 		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 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 | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740 		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 1:8,700,828...8,714,571
Ensembl chr 1:8,700,973...8,714,763 		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 PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr11:53,039,147...53,125,041
Ensembl chr11:53,039,364...53,125,776 		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: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: Cerebral, ocular, dental, auricular, and skeletal syndrome | ClinVar Annotator: match by term: LONP1-related condition OMIM
ClinVar		 PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 More... NCBI chr 6:5,348,968...5,371,521
Ensembl chr 6:5,346,426...5,371,507 		JBrowse link
Cone Rod Dystrophy Amelogenesis Imperfecta 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: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr14:1,095,514...1,137,937
Ensembl chr14:1,095,719...1,135,572 		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 ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: DEAFNESS WITH LAMM | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) OMIM
ClinVar		 PMID:17236138 PMID:18435799 PMID:18701883 PMID:19950373 PMID:21306635 More... NCBI chr 1:4,746,195...4,755,654
Ensembl chr 1:4,746,696...4,754,924 		JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies | ClinVar Annotator: match by term: IL11RA-related condition OMIM
ClinVar		 PMID:21741611 PMID:24498618 PMID:25741868 PMID:28492532 PMID:32860008 More... NCBI chr12:45,959,370...45,970,563
Ensembl chr12:45,955,863...45,969,310 		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 ISO RGD PMID:31942562 RGD:126928119 NCBI chr21:86,154,313...86,332,436 JBrowse link
dentin dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:35,993,669...35,999,443 JBrowse link
G SSUH2 ssu-2 homolog ISO OMIM:125400 | OMIM:125420 MouseDO NCBI chr22:44,651,125...44,680,476
Ensembl chr22:44,651,663...44,666,516 		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 ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH | ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: SMOC2-related condition OMIM
ClinVar		 PMID:22152679 PMID:23317772 PMID:25741868 PMID:28492532 NCBI chr13:96,264,170...96,477,393
Ensembl chr13:96,264,181...96,477,491 		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 ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 7:35,993,669...35,999,443 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 ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More... NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		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 chr21:54,602,780...54,639,832
Ensembl chr21:54,602,398...54,632,780 		JBrowse link
G DSPP dentin sialophosphoprotein ISO 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 OMIM
ClinVar		 PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:16199547 More... NCBI chr 7:35,993,669...35,999,443 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 ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta OMIM
ClinVar		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 NCBI chr 7:35,993,669...35,999,443 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 chr15:63,163,989...63,263,122
Ensembl chr15:63,170,243...63,263,149 		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 OMIM
ClinVar		 PMID:3198322 PMID:9536098 PMID:11063735 PMID:12101406 PMID:12802069 More... NCBI chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366 		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 OMIM
ClinVar		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:59,453,157...59,861,555 JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:56,527,838...56,574,646
Ensembl chr  X:56,531,860...56,574,448 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr11:104,812,882...104,837,089
Ensembl chr11:104,813,846...104,835,517 		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 3, Anhidrotic | 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 chr14:12,320,653...12,412,191
Ensembl chr14:12,320,719...12,411,855 		JBrowse link
G EDAR ectodysplasin A receptor 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 OMIM
ClinVar		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		JBrowse link
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 PMID:25741868 NCBI chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,962,757...12,026,045
Ensembl chr14:11,963,689...12,027,503 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:12,059,347...12,210,779
Ensembl chr14:12,059,411...12,213,064 		JBrowse link
G LOC103241211 sulfotransferase 1C4 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,860,065...11,882,111
Ensembl chr14:11,861,211...11,871,767 		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:11279189 More... NCBI chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,346,281...11,373,754
Ensembl chr14:11,347,861...11,370,297 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,709,266...11,731,318
Ensembl chr14:11,711,120...11,732,613 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,621,851...11,638,719
Ensembl chr14:11,622,043...11,636,652 		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: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:12,320,653...12,412,191
Ensembl chr14:12,320,719...12,411,855 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 More... NCBI chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		JBrowse link
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:25741868 NCBI chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,962,757...12,026,045
Ensembl chr14:11,963,689...12,027,503 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:12,059,347...12,210,779
Ensembl chr14:12,059,411...12,213,064 		JBrowse link
G LOC103241211 sulfotransferase 1C4 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,860,065...11,882,111
Ensembl chr14:11,861,211...11,871,767 		JBrowse link
G RANBP2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | 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:10431242 PMID:11279189 PMID:15373768 PMID:16435307 More... NCBI chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,346,281...11,373,754
Ensembl chr14:11,347,861...11,370,297 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,709,266...11,731,318
Ensembl chr14:11,711,120...11,732,613 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,621,851...11,638,719
Ensembl chr14:11,622,043...11,636,652 		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 ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 More... NCBI chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		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 chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		JBrowse link
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 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 chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		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 chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		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 | ClinVar Annotator: match by term: KDF1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr20:105,803,540...105,814,461
Ensembl chr20:105,811,182...105,816,004 		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 1:8,244,483...8,246,551
Ensembl chr 1:8,244,485...8,245,968 		JBrowse link
ectodermal dysplasia and immune deficiency 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, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:11224521 PMID:20412081 PMID:25741868 NCBI chr  X:128,781,975...128,816,039
Ensembl chr  X:128,787,785...128,806,083 		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: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		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 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... NCBI chr  X:128,781,975...128,816,039
Ensembl chr  X:128,787,785...128,806,083 		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 chr24:11,580,379...11,708,320
Ensembl chr24:11,581,164...11,706,292 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr24:11,541,226...11,545,690
Ensembl chr24:11,543,638...11,544,335 		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 OMIM
ClinVar		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854 		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 chr24:11,901,522...11,935,764
Ensembl chr24:11,900,604...11,935,560 		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 chr24:11,936,410...12,081,721
Ensembl chr24:11,936,410...12,083,519 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr24:12,099,804...12,127,477
Ensembl chr24:12,099,937...12,127,309 		JBrowse link
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr24:11,802,671...11,846,534
Ensembl chr24:11,812,672...11,846,675 		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 ISO ClinVar Annotator: match by term: ANTXR1-related condition | ClinVar Annotator: match by term: GAPO syndrome ClinVar
OMIM		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... NCBI chr14:37,849,911...38,116,339
Ensembl chr14:37,877,436...38,115,938 		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 chr21:56,564,766...56,574,634
Ensembl chr21:56,565,360...56,574,161 		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 OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr21:56,493,424...56,535,565
Ensembl chr21:56,493,435...56,535,154 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:29,180,427...29,198,747
Ensembl chr17:29,180,460...29,200,398 		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 ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:59,453,157...59,861,555 JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		JBrowse link
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 NCBI chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		JBrowse link
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 chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		JBrowse link
G TRAF6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 1:28,726,357...28,752,389
Ensembl chr 1:28,734,380...28,747,092 		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 chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854 		JBrowse link
hypomyelinating leukodystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism ClinVar PMID:25326637 PMID:25741868 PMID:26295337 PMID:26467025 PMID:26689913 More... NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More... NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792 		JBrowse link
G ELMOD3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION ClinVar PMID:24039609 PMID:25326637 NCBI chr14:21,765,160...21,803,774 JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: POLR3-related leukodystrophy ClinVar PMID:16505055 PMID:17724218 PMID:21153841 PMID:23035049 PMID:25741868 More... NCBI chr16:7,391,260...7,407,549
Ensembl chr16:7,392,419...7,406,305 		JBrowse link
G LOC103233229 cadherin-1 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 More... NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541 		JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: POLR3A-related condition OMIM
ClinVar		 PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More... NCBI chr 9:53,411,869...53,462,773
Ensembl chr 9:53,411,889...53,464,668 		JBrowse link
G POLR3B RNA polymerase III subunit B ISO 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 ClinVar PMID:16199547 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 More... NCBI chr11:101,577,134...101,719,214
Ensembl chr11:101,585,900...101,713,126 		JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr 9:53,400,876...53,407,746
Ensembl chr 9:53,398,783...53,407,697 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome ClinVar PMID:25326637 PMID:25741868 PMID:27104957 PMID:28492532 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215 		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: CTBP1-related condition | 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:29758562 More... NCBI chr27:47,533,490...47,570,505
Ensembl chr27:47,544,682...47,570,636 		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: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr14:1,095,514...1,137,937
Ensembl chr14:1,095,719...1,135,572 		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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,464,357...74,526,173
Ensembl chr 5:74,464,651...74,525,660 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO 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
ClinVar		 PMID:1218237 PMID:9536098 PMID:15378538 PMID:15384099 PMID:15523620 More... NCBI chr 5:74,630,108...74,682,232
Ensembl chr 5:74,628,310...74,682,232 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,196,858...74,199,789
Ensembl chr 5:74,194,013...74,199,891 		JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:73,341,241...73,466,636
Ensembl chr 5:73,341,729...73,466,949 		JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:73,284,536...73,333,629 JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,260,516...74,361,268
Ensembl chr 5:74,263,375...74,289,875 		JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,542,174...74,563,753
Ensembl chr 5:74,550,637...74,563,850 		JBrowse link
G CDK10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,002,284...75,034,555
Ensembl chr 5:75,024,205...75,033,428 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,190,409...74,196,589
Ensembl chr 5:74,190,947...74,195,972 		JBrowse link
G CENPBD1 Putative CENPB DNA-binding domain-containing protein 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,297,171...75,297,822 JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:74,990,706...75,002,074
Ensembl chr 5:74,990,410...75,001,988 		JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:74,937,985...74,953,406 JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,091,156...74,100,941
Ensembl chr 5:74,091,258...74,100,573 		JBrowse link
G CUNH16orf95 chromosome unknown C16orf95 homolog ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 5:72,508,773...72,685,057 JBrowse link
G DBNDD1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,327,897...75,341,271 JBrowse link
G DEF8 differentially expressed in FDCP 8 homolog ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,274,379...75,294,458
Ensembl chr 5:75,275,190...75,295,178 		JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591 		JBrowse link
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 5:72,696,868...72,752,480
Ensembl chr 5:72,701,136...72,752,989 		JBrowse link
G GAS8 growth arrest specific 8 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,353,493...75,370,012
Ensembl chr 5:75,354,117...75,371,796 		JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,019,253...74,021,530
Ensembl chr 5:74,019,253...74,020,344 		JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 5:72,972,373...73,095,710
Ensembl chr 5:72,972,361...73,094,231 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr 9:56,340,579...56,525,809
Ensembl chr 9:56,340,026...56,536,512 		JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 5:73,104,421...73,160,058
Ensembl chr 5:73,104,980...73,160,041 		JBrowse link
G LOC103233451 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750 		JBrowse link
G LOC103233459 trafficking protein particle complex subunit 2-like protein ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:25741868 More... NCBI chr 5:74,243,395...74,248,579
Ensembl chr 5:74,243,405...74,247,598 		JBrowse link
G LOC103233460 N-acetylgalactosamine-6-sulfatase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,201,468...74,243,478 JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 5:72,762,428...72,774,204
Ensembl chr 5:72,763,050...72,772,770 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,031,470...74,049,066
Ensembl chr 5:74,031,316...74,049,011 		JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,251,084...74,256,543
Ensembl chr 5:74,252,703...74,255,857 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,100,675...74,167,194
Ensembl chr 5:74,100,929...74,134,167 		JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,080,605...74,091,114
Ensembl chr 5:74,081,203...74,091,018 		JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:74,918,926...74,921,402 JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217 		JBrowse link
G SLC22A31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,564,030...74,569,826 JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754 		JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,062,241...74,071,840 JBrowse link
G SPATA2L spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,034,558...75,039,867
Ensembl chr 5:75,031,141...75,039,416 		JBrowse link
G SPATA33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,002,037...75,011,305
Ensembl chr 5:75,002,359...75,013,583 		JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,160,728...75,200,417
Ensembl chr 5:75,177,082...75,201,581 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,205,506...75,235,290
Ensembl chr 5:75,205,504...75,235,777 		JBrowse link
G VPS9D1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,044,282...75,057,744
Ensembl chr 5:75,044,790...75,057,135 		JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:73,944,502...74,010,379
Ensembl chr 5:73,944,574...74,009,714 		JBrowse link
G ZCCHC14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 5:72,776,249...72,863,957
Ensembl chr 5:72,780,300...72,863,860 		JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:73,832,527...73,909,231
Ensembl chr 5:73,864,461...73,909,049 		JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 5:75,057,541...75,073,328
Ensembl chr 5:75,057,253...75,073,023 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:73,762,456...73,820,262 JBrowse link
G ZNF778 zinc finger protein 778 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 5:74,583,488...74,595,533
Ensembl chr 5:74,589,788...74,595,135 		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 chr 5:3,641,359...3,796,697
Ensembl chr 5:3,641,349...3,796,198 		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 chr 5:4,378,318...4,413,266
Ensembl chr 5:4,375,517...4,413,199 		JBrowse link
G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,201,578...4,230,583
Ensembl chr 5:4,199,922...4,230,533 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,245,799...4,286,742 JBrowse link
G DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,413,292...4,427,925 JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,109,612...4,139,789 JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:3,996,333...4,019,499
Ensembl chr 5:3,996,372...4,019,542 		JBrowse link
G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,157,402...4,201,223 JBrowse link
G LOC103227636 coronin-7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,034,282...4,098,554
Ensembl chr 5:4,020,116...4,098,328 		JBrowse link
G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,310,924...4,372,896
Ensembl chr 5:4,310,970...4,375,423 		JBrowse link
G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,142,965...4,164,217
Ensembl chr 5:4,143,051...4,163,391 		JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,372,989...4,377,679
Ensembl chr 5:4,375,517...4,377,032 		JBrowse link
G PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,020,116...4,031,233 JBrowse link
G ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome OMIM
ClinVar		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr 5:4,466,954...4,472,967
Ensembl chr 5:4,466,824...4,472,780 		JBrowse link
G SEPTIN12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,448,098...4,465,389 JBrowse link
G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,465,215...4,466,550
Ensembl chr 5:4,465,603...4,466,738 		JBrowse link
G SRL sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:3,861,921...3,928,865 JBrowse link
G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:3,931,288...3,960,039
Ensembl chr 5:3,932,149...3,954,486 		JBrowse link
G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,295,504...4,301,647
Ensembl chr 5:4,292,771...4,301,515 		JBrowse link
G VASN vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,052,239...4,063,884 JBrowse link
G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,432,050...4,443,777
Ensembl chr 5:4,432,575...4,443,396 		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 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome OMIM
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392 		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: LADD SYNDROME 2 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 OMIM
ClinVar		 PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8723106 More... NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392 		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: LADD syndrome 3 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 OMIM
ClinVar		 PMID:15654336 PMID:16501574 PMID:16630169 PMID:25741868 PMID:28492532 More... NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432 		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 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704 		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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392 		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 chr23:52,829,438...52,899,428
Ensembl chr23:52,829,350...52,899,375 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:59,292,705...59,295,821
Ensembl chr 9:59,293,158...59,300,866 		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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392 		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 OMIM
ClinVar		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr22:19,304,822...19,468,037
Ensembl chr22:19,304,781...19,468,036 		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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:17,428,416...17,573,497
Ensembl chr  X:17,427,532...17,468,812 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:18,384,122...18,458,518
Ensembl chr  X:18,382,527...18,437,138 		JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:16,615,823...16,671,541 JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:16,955,540...17,101,513 JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:18,589,940...18,606,680
Ensembl chr  X:18,588,232...18,606,648 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:17,820,316...17,981,894
Ensembl chr  X:17,819,474...17,981,402 		JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:18,474,073...18,583,545
Ensembl chr  X:18,473,803...18,583,523 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome OMIM
ClinVar		 PMID:458526 PMID:2246772 PMID:9536098 PMID:9837815 PMID:10679936 More... NCBI chr  X:15,803,386...16,183,809
Ensembl chr  X:16,168,609...16,183,787 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:17,804,123...17,820,087 JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:17,333,146...17,422,653
Ensembl chr  X:17,333,657...17,422,457 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:17,130,694...17,265,097
Ensembl chr  X:17,175,007...17,264,701 		JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:16,250,538...16,312,788
Ensembl chr  X:16,250,911...16,252,503 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:18,614,664...18,730,591
Ensembl chr  X:18,620,159...18,730,581 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:17,089,382...17,105,145
Ensembl chr  X:17,089,598...17,118,447 		JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:16,193,787...16,208,945 JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:16,680,560...16,803,443
Ensembl chr  X:16,680,567...16,782,447 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:17,999,262...18,357,003
Ensembl chr  X:17,999,211...18,357,157 		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 ClinVar Annotator: match by term: Oculodentodigital dysplasia OMIM
ClinVar		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		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 OMIM
ClinVar		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr13:52,518,428...52,742,961 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 | ClinVar Annotator: match by term: PIK3C2A-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31034465 NCBI chr 1:47,759,850...47,874,458
Ensembl chr 1:47,795,954...47,877,028 		JBrowse link
Odd Shapes of Teeth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCL5 achaete-scute family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Teeth, odd shapes of ClinVar PMID:25741868 NCBI chr25:28,274,562...28,287,783
Ensembl chr25:28,286,370...28,286,987 		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: Odontochondrodysplasia 1 OMIM
ClinVar		 PMID:20089971 PMID:23956106 PMID:25741868 PMID:28492532 PMID:29872333 More... NCBI chr24:69,724,614...69,793,413
Ensembl chr24:69,751,193...69,793,039 		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 ClinVar Annotator: match by term: Odontochondrodysplasia 2 with hearing loss and diabetes OMIM
ClinVar		 PMID:25741868 NCBI chr25:6,901,891...6,954,556
Ensembl chr25:6,902,425...6,954,526 		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 OMIM
ClinVar		 PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854 		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-cancer predisposition syndrome
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		 OMIM
ClinVar		 PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 More... NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281 		JBrowse link
G GNA13 G protein subunit alpha 13 ISO ClinVar Annotator: match by term: Oligodontia-cancer predisposition syndrome ClinVar PMID:28492532 NCBI chr16:56,372,146...56,419,754
Ensembl chr16:56,372,276...56,414,827 		JBrowse link
G RGS9 regulator of G protein signaling 9 ISO ClinVar Annotator: match by term: Oligodontia-cancer predisposition syndrome ClinVar PMID:28492532 NCBI chr16:56,199,051...56,291,002
Ensembl chr16:56,199,343...56,288,290 		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 chr16:42,861,177...42,909,048
Ensembl chr16:42,857,245...42,909,397 		JBrowse link
G CASD1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:11288717 PMID:15077201 PMID:28492532 NCBI chr21:54,483,449...54,532,507
Ensembl chr21:54,482,713...54,531,319 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO 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 I
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 | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth
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
ClinVar		 PMID:1445258 PMID:1460046 PMID:1634225 PMID:1718984 PMID:1737847 More... NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		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 chr21:54,602,780...54,639,832
Ensembl chr21:54,602,398...54,632,780 		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 chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095 		JBrowse link
G EME1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr16:42,949,059...42,957,323
Ensembl chr16:42,949,570...42,955,312 		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 chr16:43,248,341...43,282,045
Ensembl chr16:43,250,435...43,281,670 		JBrowse link
G LRRC59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr16:42,931,726...42,949,281
Ensembl chr16:42,932,549...42,947,655 		JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta ClinVar PMID:9311737 PMID:11948175 PMID:15475387 PMID:16736289 PMID:17135187 More... NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393 		JBrowse link
G MRPL27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr16:42,957,287...42,962,554
Ensembl chr16:42,957,253...42,962,328 		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 chr16:43,227,843...43,243,596
Ensembl chr16:43,229,093...43,243,627 		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 chr16:43,188,400...43,205,621
Ensembl chr16:43,188,022...43,205,680 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta ClinVar PMID:16199547 PMID:23919265 PMID:25741868 PMID:25944380 PMID:25960145 More... NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		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 chr16:43,209,260...43,226,537
Ensembl chr16:43,214,262...43,226,329 		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 chr16:43,160,402...43,173,368
Ensembl chr16:43,160,401...43,170,109 		JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:11288717 PMID:15077201 PMID:28492532 NCBI chr21:54,385,253...54,456,685
Ensembl chr21:54,385,262...54,457,302 		JBrowse link
G TMEM92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr16:43,055,096...43,063,637
Ensembl chr16:43,055,815...43,060,639 		JBrowse link
G XYLT2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr16:42,969,198...42,984,542
Ensembl chr16:42,970,041...42,984,438 		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 OMIM
ClinVar		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854 		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 chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734 		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:12807959 More... NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006 		JBrowse link
Selective Tooth Agenesis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103219967 thrombospondin-type laminin G domain and EAR repeat-containing protein ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 10 OMIM
ClinVar		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr 2:88,219,663...88,425,531
Ensembl chr 2:88,221,529...88,287,701 		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:59,453,157...59,861,555 JBrowse link
G EVC2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:25741868 NCBI chr27:41,703,062...41,851,231
Ensembl chr27:41,703,491...41,850,904 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: STHAG2 ClinVar PMID:23401279 PMID:24043634 PMID:24311251 PMID:24312213 PMID:25629078 More... NCBI chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854 		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 OMIM
ClinVar		 PMID:10615120 PMID:11781684 PMID:11827258 PMID:11941488 PMID:12605438 More... NCBI chr24:13,454,839...13,470,564
Ensembl chr24:13,455,589...13,473,505 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 3 ClinVar PMID:11941488 NCBI chr24:13,472,050...13,974,991
Ensembl chr24:13,473,395...13,680,176 		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, ABSENCE OF | 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 OMIM
ClinVar		 PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854 		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 OMIM
ClinVar		 PMID:17332414 PMID:22813217 PMID:23033978 PMID:24427284 PMID:25741868 More... NCBI chr11:12,016,542...12,170,496
Ensembl chr11:12,021,560...12,170,663 		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 ClinVar Annotator: match by term: Tooth agenesis, selective, 8 OMIM
ClinVar		 PMID:25741868 PMID:27321946 PMID:28492532 NCBI chr11:45,205,728...45,229,050
Ensembl chr11:45,205,566...45,210,893 		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 ClinVar Annotator: match by term: Tooth agenesis, selective, 9 OMIM
ClinVar		 PMID:23401279 PMID:25741868 PMID:26416033 NCBI chr25:77,600,306...77,724,090
Ensembl chr25:77,602,803...77,603,309 		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 ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1 OMIM
ClinVar		 PMID:9683615 PMID:16583127 PMID:17256800 PMID:18510547 PMID:18545687 More... NCBI chr  X:59,453,157...59,861,555 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: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chr 7:92,798,344...93,052,737 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 chr20:12,773,971...12,784,023 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 chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264 		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:19264985 PMID:19324880 More... NCBI chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264 		JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIGI RNA sensor RIG-I ISO ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr12:47,729,040...47,800,995
Ensembl chr12:47,729,076...47,799,570 		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 ClinVar Annotator: match by term: SINGLE CENTRAL MAXILLARY INCISOR | ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome OMIM
ClinVar		 PMID:9302262 PMID:10556296 PMID:11471164 PMID:12567406 PMID:12709790 More... NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395 		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 chr14:62,278,124...62,292,942
Ensembl chr14:62,278,461...62,281,127 		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 chr17:38,291,100...38,309,134
Ensembl chr17:38,291,217...38,307,745 		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:28492532 PMID:31616463 NCBI chr  X:60,135,371...60,266,301 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 ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome OMIM
ClinVar		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr29:19,633,335...19,707,547
Ensembl chr29:19,632,026...19,707,425 		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 chr14:37,492,885...37,669,953
Ensembl chr14:37,576,872...37,658,050 		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 chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281 		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 2:31,349,394...31,361,227
Ensembl chr 2:31,348,808...31,360,901 		JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human)
ClinVar Annotator: match by term: Tooth agenesis		 RGD
ClinVar		 PMID:26166641 RGD:13442494 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia ClinVar PMID:19623212 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:59,453,157...59,861,555 JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 PMID:28265457 PMID:28492532 NCBI chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		JBrowse link
G EDARADD EDAR associated via death domain ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		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 chr11:12,016,542...12,170,496
Ensembl chr11:12,021,560...12,170,663 		JBrowse link
G MSX1 msh homeobox 1 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:24914010 NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006 		JBrowse link
G PAX9 paired box 9 ISO 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 ClinVar PMID:12605438 PMID:14607846 PMID:16236760 PMID:16479262 PMID:19429910 More... NCBI chr24:13,454,839...13,470,564
Ensembl chr24:13,455,589...13,473,505 		JBrowse link
G POLR3GL RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:25741868 PMID:31089205 NCBI chr20:12,773,971...12,784,023 JBrowse link
G RANBP2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 PMID:28265457 PMID:28492532 NCBI chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		JBrowse link
G RFX2 regulatory factor X2 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr 6:5,637,086...5,758,000
Ensembl chr 6:5,636,735...5,738,133 		JBrowse link
G SEH1L SEH1 like nucleoporin ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr18:71,453,924...71,492,289
Ensembl chr18:71,453,972...71,491,808 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr24:13,472,050...13,974,991
Ensembl chr24:13,473,395...13,680,176 		JBrowse link
G VPS54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr14:43,000,960...43,127,129
Ensembl chr14:43,008,915...43,125,850 		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 chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854 		JBrowse link
tooth and nail syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr27:41,953,422...42,024,574
Ensembl chr27:41,954,417...42,019,751 		JBrowse link
G CUNH4orf50 chromosome unknown C4orf50 homolog ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr27:42,090,581...42,157,229 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 chr27:41,187,925...41,192,768
Ensembl chr27:41,187,828...41,192,690 		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 chr27:41,853,475...41,944,584
Ensembl chr27:41,861,918...41,944,333 		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 chr27:41,703,062...41,851,231
Ensembl chr27:41,703,491...41,850,904 		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 chr27:42,157,145...42,330,117
Ensembl chr27:42,167,423...42,243,485 		JBrowse link
G LOC103246398 uncharacterized protein encoded by LINC01587 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr27:41,666,498...41,667,700 JBrowse link
G MSX1 msh homeobox 1 ISO ClinVar Annotator: match by term: Dysplasia of nails with hypodontia | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar Annotator: match by term: Tooth-and-Nail Syndrome OMIM
ClinVar		 PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 More... NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006 		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 chr27:41,225,325...41,638,650
Ensembl chr27:41,225,583...41,641,077 		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 chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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 chr16:42,646,316...42,703,124
Ensembl chr16:42,646,812...42,702,852 		JBrowse link
G ABI3 ABI family member 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr16:69,613,308...69,625,887 JBrowse link
G ACSF2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr16:42,861,177...42,909,048
Ensembl chr16:42,857,245...42,909,397 		JBrowse link
G ANKRD40 ankyrin repeat domain 40 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr16:42,629,764...42,644,823
Ensembl chr16:42,629,773...42,642,046 		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 chr16:69,307,094...69,312,257
Ensembl chr16:69,307,175...69,312,254 		JBrowse link
G B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)