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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 chr16:4,095,582...4,271,073
Ensembl chr16:4,105,165...4,271,170
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10631169 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
JBrowse link
G LRP4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 2:15,616,137...15,672,876
Ensembl chr 2:15,616,131...15,672,874
JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7559133 PMID:9363853 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200
JBrowse link
G PITX2 paired like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688224 NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687
JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 PMID:22228435 NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425
JBrowse link
G TBX3 T-box transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207801 NCBI chr14:37,582,704...37,596,767
Ensembl chr14:37,582,822...37,596,766
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20018682 NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,819...85,017,820
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 chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068
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 6:55,535,406...55,541,929
Ensembl chr 6:55,536,904...55,541,968
JBrowse link
G AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:8,055,246...8,063,457
Ensembl chr  X:8,055,782...8,063,449
JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:7,910,851...8,441,579
Ensembl chr  X:7,910,858...8,120,386
JBrowse link
G BNC2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,925,091...206,372,121
JBrowse link
G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 3:16,812,409...16,819,130
Ensembl chr 3:16,812,404...16,819,124
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783
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 chr13:31,262,750...31,295,112 JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157
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 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO Dental hypomineralization
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)
RGD
OMIA
PMID:22732358 PMID:25928877 PMID:27187611 PMID:27803843 RGD:11560487 RGD:11560491 NCBI chr 3:159,107...200,462
Ensembl chr 3:163,421...200,459
JBrowse link
G FAM83H family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517
JBrowse link
G GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,904,246
JBrowse link
G KLK4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294
JBrowse link
G LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197
JBrowse link
G LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351
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 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
JBrowse link
G PSPH phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952
JBrowse link
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr 9:7,833,387...7,852,469
Ensembl chr 9:7,833,419...7,854,496
JBrowse link
G SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 7:113,836,207...114,014,952
Ensembl chr 7:113,836,230...114,014,949
JBrowse link
G SP6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chr12:24,100,769...24,106,828
Ensembl chr12:24,100,801...24,106,792
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286
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 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047
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 chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286
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 8:71,215,091...71,225,787
Ensembl chr 8:71,215,152...71,226,319
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 chr 7:113,836,207...114,014,952
Ensembl chr 7:113,836,230...114,014,949
JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, 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 chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783
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 chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197
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 chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783
JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157
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 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086
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 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086
JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286
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:8,055,246...8,063,457
Ensembl chr  X:8,055,782...8,063,449
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... NCBI chr  X:7,910,851...8,441,579
Ensembl chr  X:7,910,858...8,120,386
JBrowse link
amelogenesis imperfecta type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMBN ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar
PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr 8:67,381,137...67,394,394
Ensembl chr 8:67,381,137...67,394,394
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 chr12:11,606,469...11,663,086
Ensembl chr12:11,607,034...11,657,737
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 chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373
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 chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234
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 6:55,535,406...55,541,929
Ensembl chr 6:55,536,904...55,541,968
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 chr12:24,100,769...24,106,828
Ensembl chr12:24,100,801...24,106,792
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 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294
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 chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,904,246
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 4:887,472...907,523
Ensembl chr 4:892,041...907,517
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 4:887,472...907,523
Ensembl chr 4:892,041...907,517
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 8:67,312,108...67,327,775
Ensembl chr 8:67,312,972...67,326,730
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 9:7,833,387...7,852,469
Ensembl chr 9:7,833,419...7,854,496
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 chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157
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 chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr14:97,487,854...97,490,118
Ensembl chr14:97,487,226...97,490,288
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:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265
JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 NCBI chr  X:52,522,231...52,533,080 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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
JBrowse link
G GLI3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900
JBrowse link
G IRX5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 6:30,511,263...30,515,015
Ensembl chr 6:30,511,894...30,514,808
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 chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784
JBrowse link
G KDF1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 NCBI chr 6:84,254,493...84,265,112
Ensembl chr 6:84,254,499...84,265,041
JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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 chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
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 chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310
JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:11827258 PMID:28492532 NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625
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 chr 3:16,161,524...16,168,619
Ensembl chr 3:16,161,580...16,169,453
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 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
JBrowse link
AURONEURODENTAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700
JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO 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 chr14:4,289,257...4,318,587
Ensembl chr14:4,289,339...4,318,584
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 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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 8:110,241,220...110,368,001
Ensembl chr 8:110,241,227...110,367,912
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908
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 8:110,468,450...110,504,828
Ensembl chr 8:110,468,757...110,504,912
JBrowse link
G HMGN2 high mobility group nucleosomal binding domain 2 ISO OMIM:180500 MouseDO NCBI chr 6:83,857,114...83,861,907
Ensembl chr 6:83,858,177...83,861,905
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 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708
JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,200,681...110,206,081
Ensembl chr 8:110,201,161...110,201,979
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 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094
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 8:110,377,817...110,394,190
Ensembl chr 8:110,377,892...110,389,604
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 8:110,089,920...110,168,086
Ensembl chr 8:110,090,001...110,168,081
JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar
PMID:2449335 PMID:3028782 PMID:8075649 PMID:9537325 PMID:9744472 More... NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
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 2:13,143,604...13,209,251
Ensembl chr 2:13,154,338...13,209,250
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 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
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 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438
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 chr 5:22,435,636...22,519,276 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 2:73,266,310...73,286,774
Ensembl chr 2:73,266,258...73,286,773
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 chr 3:56,814,823...56,858,460
Ensembl chr 3:56,814,832...56,858,453
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 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533
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 chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138
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 chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
JBrowse link
G SSUH2 ssu-2 homolog ISO OMIM:125400 | OMIM:125420 MouseDO NCBI chr13:65,041,193...65,066,367
Ensembl chr13:65,039,719...65,066,369
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 chr 1:1,193,163...1,332,739
Ensembl chr 1:1,193,167...1,332,694
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 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16705691 PMID:17078022 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
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 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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 chr13:5,315,985...5,410,686
Ensembl chr13:5,314,148...5,417,610
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 chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623
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:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265
JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:52,522,231...52,533,080 JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368
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 chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529
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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
JBrowse link
G EDARADD EDAR associated 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 chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
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 chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999
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 chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884
JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 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 chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
JBrowse link
G LOC100623441 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 chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867
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 chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379
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 chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187
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 chr 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943
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 chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529
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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:25741868 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
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 chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999
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 chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884
JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 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 chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
JBrowse link
G LOC100623441 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 chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867
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 chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379
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 chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187
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 chr 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943
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 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 chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
JBrowse link
G EDARADD EDAR associated 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 chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 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 chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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 chr 6:84,254,493...84,265,112
Ensembl chr 6:84,254,499...84,265,041
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 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415
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:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040
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:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
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:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040
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:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889
JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512
JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,788,829...64,808,640
Ensembl chr 7:64,788,077...64,808,473
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 chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921
JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,578,247...64,603,351
Ensembl chr 7:64,578,243...64,616,491
JBrowse link
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,829,625...64,877,574
Ensembl chr 7:64,829,228...64,877,195
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 chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,747...73,398,379
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 9:72,360,321...72,370,064
Ensembl chr 9:72,360,483...72,368,607
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 chr 9:72,385,755...72,444,718
Ensembl chr 9:72,385,475...72,444,582
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369
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:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265
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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
JBrowse link
G TRAF6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 2:24,602,749...24,628,263
Ensembl chr 2:24,602,804...24,626,072
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 chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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 chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 More... NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
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 chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
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 chr 3:59,369,816...59,401,193
Ensembl chr 3:59,369,820...59,401,151
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 chr12:53,200,570...53,250,566
Ensembl chr12:53,235,801...53,249,467
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 chr14:80,410,143...80,471,740
Ensembl chr14:80,413,099...80,471,697
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 chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
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 chr14:80,473,867...80,480,818
Ensembl chr14:80,473,928...80,480,815
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 chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160
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 chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002
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 chr 3:56,814,823...56,858,460
Ensembl chr 3:56,814,832...56,858,453
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 6:663,201...708,800
Ensembl chr 6:663,123...709,186
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 6:455,856...612,878
Ensembl chr 6:455,851...612,868
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 6:890,272...893,278
Ensembl chr 6:890,831...893,276
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 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486
JBrowse link
G C6H16orf95 chromosome 6 C16orf95 homolog ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,996,457...2,013,709 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 6:1,495,615...1,539,390
Ensembl chr 6:1,506,042...1,538,777
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 6:779,164...854,449
Ensembl chr 6:779,366...853,822
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 6:636,350...652,260
Ensembl chr 6:636,377...652,165
JBrowse link
G CDK10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:332,239...339,130
Ensembl chr 6:332,242...339,142
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 6:893,377...897,706
Ensembl chr 6:893,381...897,934
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 6:139,644...146,306 JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:351,878...358,655
Ensembl chr 6:351,866...358,653
JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:393,756...410,781 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 6:964,551...976,881
Ensembl chr 6:964,566...976,832
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
JBrowse link
G DBNDD1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:111,053...119,112
Ensembl chr 6:111,212...119,102
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 6:140,854...160,936
Ensembl chr 6:140,908...160,692
JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:361,187...385,757
Ensembl chr 6:361,197...376,616
JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152
JBrowse link
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,949,254...1,995,459
Ensembl chr 6:1,949,276...1,995,462
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 6:869,284...890,137
Ensembl chr 6:869,244...890,134
JBrowse link
G GAS8 growth arrest specific 8 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:86,817...105,987
Ensembl chr 6:64,714...105,993
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 6:1,023,330...1,025,173
Ensembl chr 6:1,022,937...1,025,161
JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,677,132...1,767,010 JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673
JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,627,054...1,672,328
Ensembl chr 6:1,617,653...1,677,127
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 6:1,919,879...1,941,069
Ensembl chr 6:1,915,387...1,941,069
JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
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 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303
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 6:854,605...861,969
Ensembl chr 6:858,888...861,604
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More... NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
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 6:976,957...982,997
Ensembl chr 6:976,980...982,995
JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:410,923...413,396 JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
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 6:988,975...996,268
Ensembl chr 6:988,990...996,247
JBrowse link
G SPATA2L spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:328,534...331,334
Ensembl chr 6:326,746...331,740
JBrowse link
G SPATA33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:341,276...351,987 JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 PMID:35682590 NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212
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 6:211,480...246,109
Ensembl chr 6:211,487...243,561
JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:186,068...208,841
Ensembl chr 6:183,451...208,903
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:25741868 More... NCBI chr 6:865,498...869,253
Ensembl chr 6:863,805...869,226
JBrowse link
G VPS9D1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:313,713...324,026
Ensembl chr 6:313,783...324,022
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 6:1,030,416...1,081,541
Ensembl chr 6:1,030,418...1,081,538
JBrowse link
G ZCCHC14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,849,974...1,917,601
Ensembl chr 6:1,850,051...1,918,704
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 6:1,091,158...1,153,972
Ensembl chr 6:1,091,259...1,107,096
JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:298,034...316,451
Ensembl chr 6:298,039...313,403
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 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257
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 3:38,117,211...38,303,600
Ensembl chr 3:38,103,923...38,303,538
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 3:37,664,182...37,689,502
Ensembl chr 3:37,650,256...37,689,500
JBrowse link
G C3H16orf96 chromosome 3 C16orf96 homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,765,914...37,801,366 JBrowse link
G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,815,259...37,839,266
Ensembl chr 3:37,815,710...37,839,009
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224
JBrowse link
G DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,652,535...37,665,497
Ensembl chr 3:37,652,539...37,665,474
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 3:37,883,233...37,919,141
Ensembl chr 3:37,883,244...37,919,324
JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,998,072...38,018,726
Ensembl chr 3:37,998,078...38,009,024
JBrowse link
G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,829,044...37,868,163
Ensembl chr 3:37,831,439...37,868,128
JBrowse link
G LOC100513346 mitochondrial import inner membrane translocase subunit TIM16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,928,098...38,005,619
Ensembl chr 3:37,928,096...37,985,151
JBrowse link
G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,694,798...37,748,106
Ensembl chr 3:37,694,808...37,748,067
JBrowse link
G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,871,868...37,879,373
Ensembl chr 3:37,871,995...37,881,113
JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,684,206...37,694,653
Ensembl chr 3:37,684,207...37,693,652
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 3:37,592,982...37,600,004
Ensembl chr 3:37,591,815...37,602,112
JBrowse link
G SEPT12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,604,669...37,617,336
Ensembl chr 3:37,606,716...37,627,196
JBrowse link
G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,599,574...37,601,316
Ensembl chr 3:37,599,576...37,601,086
JBrowse link
G SRL sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:38,073,379...38,111,936
Ensembl chr 3:38,073,562...38,111,932
JBrowse link
G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:38,043,735...38,060,820
Ensembl chr 3:38,050,308...38,060,817
JBrowse link
G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,753,262...37,758,872
Ensembl chr 3:37,753,280...37,758,870
JBrowse link
G VASN vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,961,425...37,972,477
Ensembl chr 3:37,961,432...37,972,114
JBrowse link
G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,642,424...37,652,378 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 chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
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 chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
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 chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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 chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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 chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
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 chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
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 chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
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 chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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 chr 2:151,248,356...151,353,907
Ensembl chr 2:151,248,358...151,308,706
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:74,850,931...74,891,527
Ensembl chr14:74,850,931...74,891,520
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 chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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 chr13:39,789,259...39,938,751
Ensembl chr13:39,789,739...39,938,746
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:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619
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:16,252,407...16,312,426
Ensembl chr  X:16,252,420...16,312,439
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:14,635,795...14,703,934 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:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855
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:16,429,625...16,449,581
Ensembl chr  X:16,429,628...16,449,556
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:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120
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:16,327,718...16,423,546
Ensembl chr  X:16,327,968...16,422,772
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:13,854,950...14,209,085
Ensembl chr  X:14,097,006...14,206,568
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:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903
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:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565
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:15,111,230...15,251,415
Ensembl chr  X:15,138,350...15,251,228
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:14,246,776...14,633,071
Ensembl chr  X:14,244,317...14,309,143
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:16,452,401...16,576,854
Ensembl chr  X:16,452,405...16,576,859
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:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243
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:14,210,164...14,222,053 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:14,715,357...14,823,016
Ensembl chr  X:14,717,606...14,823,413
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:15,887,131...16,229,212
Ensembl chr  X:15,885,069...16,224,183
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 chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
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 chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:41,057,782...41,265,416
Ensembl chr 1:41,057,838...41,265,375
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 2:41,829,969...42,024,062
Ensembl chr 2:41,829,916...42,024,362
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 chr10:23,568,676...23,569,987
Ensembl chr10:23,569,391...23,569,927
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 chr 7:113,524,406...113,600,411
Ensembl chr 7:113,524,430...113,600,088
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 chr10:11,362,489...11,428,844
Ensembl chr10:11,377,846...11,429,015
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 chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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 chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
JBrowse link
G GNA13 G protein subunit alpha 13 ISO ClinVar Annotator: match by term: Oligodontia-cancer predisposition syndrome ClinVar PMID:28492532 NCBI chr12:11,922,630...11,966,913
Ensembl chr12:11,922,632...11,966,610
JBrowse link
G RGS9 regulator of G protein signaling 9 ISO ClinVar Annotator: match by term: Oligodontia-cancer predisposition syndrome ClinVar PMID:28492532 NCBI chr12:12,015,321...12,087,982
Ensembl chr12:12,015,321...12,087,976
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 chr12:26,713,790...26,752,352
Ensembl chr12:26,713,785...26,761,140
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 chr 9:74,276,533...74,347,608
Ensembl chr 9:74,276,908...74,347,588
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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth ClinVar PMID:458828 PMID:1634225 PMID:1642148 PMID:1978725 PMID:1990009 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
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 chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157
JBrowse link
G EME1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,670,126...26,680,097
Ensembl chr12:26,670,176...26,680,601
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 chr12:26,234,769...26,269,327
Ensembl chr12:26,235,258...26,269,324
JBrowse link
G LRRC59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,678,207...26,694,277
Ensembl chr12:26,677,226...26,694,279
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 chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757
JBrowse link
G MRPL27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,663,884...26,670,167
Ensembl chr12:26,663,595...26,664,984
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 chr12:26,274,562...26,295,787
Ensembl chr12:26,274,606...26,301,878
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 chr12:26,319,123...26,337,089
Ensembl chr12:26,319,124...26,336,562
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 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
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 chr12:26,295,159...26,315,548
Ensembl chr12:26,296,016...26,315,422
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 chr12:26,356,691...26,368,561
Ensembl chr12:26,356,777...26,371,600
JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:11288717 PMID:15077201 PMID:28492532 NCBI chr 9:74,402,714...74,473,904
Ensembl chr 9:74,402,717...74,473,910
JBrowse link
G TMEM92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,466,613...26,472,865
Ensembl chr12:26,452,882...26,472,864
JBrowse link
G XYLT2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr12:26,640,802...26,656,809
Ensembl chr12:26,640,899...26,663,520
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 chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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 chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730
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 chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
JBrowse link
Selective Tooth Agenesis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 10 OMIM
ClinVar
PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511
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:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265
JBrowse link
G EVC2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:25741868 NCBI chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644
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 chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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 chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310
JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 3 ClinVar PMID:11941488 NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625
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 chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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 chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,662
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 chr 5:14,997,377...15,013,928
Ensembl chr 5:14,997,381...15,003,567
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 chr10:11,884,198...11,904,249
Ensembl chr10:11,885,280...11,885,780
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:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265
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 8:82,115,057...82,355,660
Ensembl chr 8:82,115,056...82,355,655
JBrowse link
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3GL RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay OMIM
ClinVar
PMID:25741868 PMID:31089205 PMID:31695177 NCBI chr 4:99,362,945...99,380,299 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 chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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 chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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 chr10:33,891,720...33,976,151
Ensembl chr10:33,891,763...33,933,455
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 chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484
JBrowse link
G SIX3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome ClinVar PMID:18791198 PMID:19346217 PMID:20157829 PMID:26080100 PMID:26467025 More... NCBI chr 3:95,521,330...95,527,004
Ensembl chr 3:95,521,334...95,525,436
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 chr 7:29,980,394...29,997,077
Ensembl chr 7:29,980,401...29,997,115
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:56,319,453...56,447,560
Ensembl chr  X:56,319,529...56,447,553
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 chr 1:139,730,703...139,804,458
Ensembl chr 1:139,730,721...139,804,657
JBrowse link
tooth agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAK1 AP2 associated kinase 1 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr 3:72,793,977...72,960,315
Ensembl chr 3:72,794,158...72,968,194
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 chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
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 chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,195
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 chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
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:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 PMID:28265457 PMID:28492532 NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848
JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 PMID:28265457 PMID:28492532 NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
JBrowse link
G LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:22813217 PMID:23033978 PMID:25741868 PMID:26963285 PMID:28492532 NCBI chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,662
JBrowse link
G MSX1 msh homeobox 1 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:24914010 NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
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 chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310
JBrowse link
G POLR3GL RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:25741868 PMID:31089205 NCBI chr 4:99,362,945...99,380,299 JBrowse link
G RFX2 regulatory factor X2 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr 2:72,949,859...73,051,184
Ensembl chr 2:72,950,056...73,051,180
JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625
JBrowse link
G VPS54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr 3:77,856,093...77,978,194
Ensembl chr 3:77,856,138...77,975,429
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 chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
JBrowse link
tooth and nail syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8H4orf50 chromosome 8 C4orf50 homolog ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 8:4,613,979...4,680,300 JBrowse link
G CRMP1 collapsin response mediator protein 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 8:4,734,175...4,805,647
Ensembl chr 8:4,734,200...4,805,644
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 chr 8:5,455,576...5,460,861
Ensembl chr 8:5,455,671...5,460,861
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 chr 8:4,808,622...4,891,236
Ensembl chr 8:4,810,093...4,891,165
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 chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644
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 chr 8:4,472,852...4,613,986
Ensembl chr 8:4,492,389...4,612,204
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 chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
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 chr 8:5,056,816...5,418,326
Ensembl chr 8:5,056,817...5,418,329
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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 chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
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 chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,979,602
JBrowse link
G ACSF2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr12:26,713,790...26,752,352
Ensembl chr12:26,713,785...26,761,140
JBrowse link
G ANKRD40 ankyrin repeat domain 40 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr12:26,978,213...26,995,760
Ensembl chr12:26,978,215...26,995,714
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 chr12:25,110,540...25,113,481
Ensembl chr12:25,110,528...25,113,478
JBrowse link
G B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr12:25,368,234...25,410,021