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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormality of the dentition
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Accession:HP:0000164 term browser browse the term
Definition:Any abnormality of the teeth.
Comment:Any abnormality of the primary (deciduous) or permanent teeth.
Synonyms:exact_synonym: Abnormal dentition;   Abnormal teeth;   Dental abnormalities;   Dental abnormality;   Dental anomalies
 related_synonym: Abnormality of the teeth;   Dental problem;   Dental problems;   Tooth abnormalities
 alt_id: HP:0001567;   HP:0006296;   HP:0006348
 xref: SNOMEDCT_US:422775003;   UMLS:C0040427;   UMLS:C0262444



show annotations for term's descendants           Sort by:
Abnormality of the dentition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 IAGP HPO ORPHA:313 NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626
JBrowse link
G ABCA5 ATP binding cassette subfamily A member 5 IAGP HPO ORPHA:2026 NCBI chr17:69,244,311...69,327,133
Ensembl chr17:69,244,311...69,327,244
JBrowse link
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO MIM:616553 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810
JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ClinVar Annotator: match by term: Abnormality of the dentition ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G AGA aspartylglucosaminidase IAGP HPO ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP HPO ORPHA:93598 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
JBrowse link
G AHCY adenosylhomocysteinase IAGP HPO MIM:613752 ORPHA:88618 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO MIM:203800 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP HPO ORPHA:313 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716
JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 IAGP HPO ORPHA:313 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO MIM:241500 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:228390 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:79665 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G APCDD1 APC down-regulated 1 IAGP HPO MIM:605389 NCBI chr18:10,454,635...10,489,949
Ensembl chr18:10,454,635...10,489,949
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ASPRV1 aspartic peptidase retroviral like 1 IAGP HPO ORPHA:313 NCBI chr 2:69,932,717...70,087,375
Ensembl chr 2:69,960,089...69,961,631
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79499 ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:847 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO MIM:615982 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006
JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:2712 ORPHA:568 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:115150 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CDH11 cadherin 11 IAGP HPO ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
JBrowse link
G CDH3 cadherin 3 IAGP HPO MIM:601553 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
JBrowse link
G CDSN corneodesmosin IAGP HPO MIM:146520 ORPHA:90368 NCBI chr 6:31,115,087...31,120,446
Ensembl chr 6:31,115,087...31,120,446
JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO MIM:617406 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 IAGP HPO ORPHA:2108 NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:210110 ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:2380 ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Abnormality of the dentition ClinVar PMID:8037207 PMID:12787275 PMID:16971478 PMID:22266148 PMID:25741868 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:592574 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
JBrowse link
G CTCF CCCTC-binding factor IAGP HPO ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO MIM:604168 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503
JBrowse link
G CTSC cathepsin C IAGP HPO ORPHA:678 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
JBrowse link
G CTSK cathepsin K IAGP HPO ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 IAGP HPO ORPHA:313 NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317
JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP HPO ORPHA:910 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217
JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DSC3 desmocollin 3 IAGP HPO MIM:613102 NCBI chr18:30,989,365...31,042,742
Ensembl chr18:30,989,365...31,042,815
JBrowse link
G DSG4 desmoglein 4 IAGP HPO ORPHA:573 NCBI chr18:31,376,777...31,414,909
Ensembl chr18:31,376,777...31,414,912
JBrowse link
G DSP desmoplakin IAGP HPO MIM:612908 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO MIM:615269 ORPHA:432 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EDAR ectodysplasin A receptor IAGP HPO ORPHA:1810 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:1810 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G EFNB1 ephrin B1 IAGP HPO MIM:304110 ORPHA:1520 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:261652 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:615522 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G EPS8L3 EPS8 signaling adaptor L3 IAGP HPO MIM:612841 NCBI chr 1:109,750,080...109,763,923
Ensembl chr 1:109,750,080...109,764,027
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:90321 ORPHA:910 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:910 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90321 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90321 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO ORPHA:289 ORPHA:952 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:289 ORPHA:952 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO ORPHA:915 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO ORPHA:2363 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
JBrowse link
G FGF23 fibroblast growth factor 23 IAGP HPO MIM:193100 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:432 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:2363 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:2363 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO MIM:259450 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Dental problems ClinVar PMID:28492532 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO ORPHA:349 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO MIM:129500 ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654
JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO ORPHA:2065 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065
JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO MIM:231070 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:2128 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552
JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HOXC13 homeobox C13 IAGP HPO MIM:614931 NCBI chr12:53,938,831...53,946,544
Ensembl chr12:53,938,831...53,946,544
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:3071 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO ORPHA:1515 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO ORPHA:1515 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO ORPHA:1515 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO ORPHA:2128 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO MIM:615267 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G INSR insulin receptor IAGP HPO ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP DNA:mutations:cds:multiple RGD PMID:22077973 RGD:9588484 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO ORPHA:2128 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003
JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO ORPHA:2036 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
JBrowse link
G KDF1 keratinocyte differentiation factor 1 IAGP HPO ORPHA:1810 NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KDM6B lysine demethylase 6B IAGP HPO MIM:618505 NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
JBrowse link
G KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
JBrowse link
G KMT2C lysine methyltransferase 2C IAGP HPO ORPHA:261652 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:69087 ORPHA:79397 ORPHA:79399 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79397 ORPHA:79399 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G KRT74 keratin 74 IAGP HPO MIM:613981 MIM:614929 ORPHA:90368 NCBI chr12:52,565,782...52,573,843
Ensembl chr12:52,565,782...52,573,843
JBrowse link
G KRT81 keratin 81 IAGP HPO ORPHA:573 NCBI chr12:52,285,913...52,291,534
Ensembl chr12:52,285,913...52,291,534
JBrowse link
G KRT83 keratin 83 IAGP HPO MIM:617756 ORPHA:573 NCBI chr12:52,314,301...52,321,398
Ensembl chr12:52,314,301...52,321,398
JBrowse link
G KRT85 keratin 85 IAGP HPO MIM:602032 NCBI chr12:52,360,006...52,367,481
Ensembl chr12:52,360,006...52,367,481
JBrowse link
G KRT86 keratin 86 IAGP HPO ORPHA:573 NCBI chr12:52,274,645...52,309,163
Ensembl chr12:52,249,300...52,309,163
JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO ORPHA:2065 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:169400 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LIPH lipase H IAGP HPO MIM:604379 NCBI chr 3:185,506,262...185,552,588
Ensembl chr 3:185,506,262...185,552,588
JBrowse link
G LIPN lipase family member N IAGP HPO ORPHA:313 NCBI chr10:88,757,226...88,779,626
Ensembl chr10:88,759,982...88,779,626
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:90153 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LOC126859661 CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:35211069-35212268 IAGP ClinVar Annotator: match by term: Abnormality of the dentition ClinVar PMID:25741868 PMID:33308444 NCBI chr 6:35,243,292...35,244,491 JBrowse link
G LOC126862264 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 IAGP ClinVar Annotator: match by term: Abnormality of the dentition ClinVar PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 More... NCBI chr16:3,243,322...3,244,521 JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 IAGP HPO MIM:278150 NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP HPO MIM:251750 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378
JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO MIM:601088 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:659 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:312750 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:776 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Abnormality of the dentition ClinVar PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MEIS2 Meis homeobox 2 IAGP HPO ORPHA:261190 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Abnormality of the dentition ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO ORPHA:2501 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:2228 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:2053 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 ORPHA:568 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:2053 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NGF nerve growth factor IAGP HPO ORPHA:64752 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917
JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
JBrowse link
G NHS NHS actin remodeling regulator IAGP HPO ORPHA:627 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
JBrowse link
G NIPAL4 NIPA like domain containing 4 IAGP HPO ORPHA:313 NCBI chr 5:157,460,213...157,474,722
Ensembl chr 5:157,460,213...157,474,722
JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO ORPHA:64752 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:2065 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G NUP133 nucleoporin 133 IAGP HPO ORPHA:2065 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341
JBrowse link
G NXN nucleoredoxin IAGP HPO MIM:618529 ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO
RGD
PMID:16397067 ORPHA:2750, RGD:11535966 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO ORPHA:2065 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP HPO MIM:618371 NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
JBrowse link
G PERP p53 apoptosis effector related to PMP22 IAGP HPO ORPHA:659 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:3220 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP HPO MIM:615802 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO MIM:615398 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO ORPHA:557003 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO MIM:137600 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PKP1 plakophilin 1 IAGP HPO ORPHA:158668 NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
JBrowse link
G PLEC plectin IAGP HPO ORPHA:79401 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO ORPHA:210110 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758
JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO MIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:3363 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO MIM:614813 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
JBrowse link
G POF1B POF1B actin binding protein IAGP HPO MIM:300604 NCBI chr  X:85,277,396...85,379,665
Ensembl chr  X:85,277,396...85,379,717
JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO MIM:616494 ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PRDM5 PR/SET domain 5 IAGP HPO ORPHA:90354 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP ClinVar Annotator: match by term: Abnormality of the dentition ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:432 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO MIM:182290 ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RIGI RNA sensor RIG-I IAGP HPO MIM:616298 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RPL21 ribosomal protein L21 IAGP HPO MIM:615885 NCBI chr13:27,251,558...27,256,568
Ensembl chr13:27,251,362...27,259,609
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:251028 ORPHA:576283 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP ClinVar Annotator: match by term: Dental problems
ClinVar Annotator: match by term: Abnormality of the dentition
ClinVar PMID:25741868 PMID:33308444 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079
JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 IAGP HPO ORPHA:313 NCBI chr12:56,923,133...56,934,408
Ensembl chr12:56,923,133...56,934,408
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO ORPHA:184 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO ORPHA:500166 ORPHA:94065 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SIN3B SIN3 transcription regulator family member B IAGP HPO ORPHA:500166 NCBI chr19:16,829,398...16,880,349
Ensembl chr19:16,829,398...16,880,353
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO ORPHA:2095 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP HPO ORPHA:66631 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO MIM:617140 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP HPO MIM:607823 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639
JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO MIM:615266 ORPHA:432 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO MIM:615952 ORPHA:2314 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 IAGP HPO ORPHA:313 NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425
JBrowse link
G TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883
JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671
JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO ORPHA:2323 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:210110 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP HPO MIM:617952 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:613989 ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TGM1 transglutaminase 1 IAGP HPO ORPHA:313 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432
JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO ORPHA:2801 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:2801 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO MIM:271510 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO ORPHA:2065 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:978 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TPRKB TP53RK binding protein IAGP HPO ORPHA:2065 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400
JBrowse link
G TRAF6 TNF receptor associated factor 6 IAGP HPO ORPHA:1810 NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272
JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP HPO ORPHA:476126 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO ORPHA:502 ORPHA:77258 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO ORPHA:659 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP HPO ORPHA:391307 NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185
JBrowse link
G TYMS thymidylate synthetase IAGP HPO MIM:620040 ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO ORPHA:2315 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998
JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO MIM:300968 ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
G VDR vitamin D receptor IAGP HPO ORPHA:93160 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:1515 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:1515 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO ORPHA:2065 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO ORPHA:2065 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343
JBrowse link
G WNK3 WNK lysine deficient protein kinase 3 IAGP HPO MIM:309610 NCBI chr  X:54,192,823...54,358,900
Ensembl chr  X:54,192,823...54,358,642
JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Abnormality of the dentition ClinVar PMID:25741868 PMID:35537890 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621
JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO MIM:605822 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO ORPHA:2065 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208
JBrowse link
G YY1 YY1 transcription factor IAGP HPO MIM:617557 ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:90154 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
G ZNF341 zinc finger protein 341 IAGP HPO MIM:618282 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269
JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO ORPHA:90354 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link
Abnormal dental enamel morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP HPO ORPHA:231178 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO ORPHA:816 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO ORPHA:808 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G ATRIP ATR interacting protein IAGP HPO ORPHA:808 NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO ORPHA:2616 NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564
JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:231169 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CENPE centromere protein E IAGP HPO ORPHA:808 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445
JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO ORPHA:808 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP HPO ORPHA:231169 NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
JBrowse link
G CLDN1 claudin 1 IAGP HPO ORPHA:59303 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
JBrowse link
G CLEC7A C-type lectin domain containing 7A IAGP HPO ORPHA:1334 NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP HPO ORPHA:1873 NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Abnormal dental enamel morphology ClinVar PMID:8037207 PMID:12787275 PMID:16971478 PMID:22266148 PMID:25741868 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376
JBrowse link
G CRTAP cartilage associated protein IAGP HPO ORPHA:2050 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
JBrowse link
G CUL7 cullin 7 IAGP HPO ORPHA:2616 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO ORPHA:808 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELMO2 engulfment and cell motility 2 IAGP HPO ORPHA:3019 NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985
JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ESPN espin IAGP HPO ORPHA:231169 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367
JBrowse link
G FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO ORPHA:1031 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367
JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO ORPHA:2363 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:2363 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:2363 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086
JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:3071 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO ORPHA:1515 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO ORPHA:1515 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO ORPHA:1515 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IL17F interleukin 17F IAGP HPO ORPHA:1334 NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689
JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO ORPHA:1334 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
JBrowse link
G IL17RC interleukin 17 receptor C IAGP HPO ORPHA:1334 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:1458 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:2273 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Abnormal dental enamel morphology ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MYO7A myosin VIIA IAGP HPO ORPHA:231169 ORPHA:231178 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:139474 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NUP85 nucleoporin 85 IAGP HPO ORPHA:808 NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO ORPHA:2616 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO ORPHA:2050 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
JBrowse link
G PCDH15 protocadherin related 15 IAGP HPO ORPHA:231169 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PCNT pericentrin IAGP HPO ORPHA:808 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:439822 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PDZD7 PDZ domain containing 7 IAGP HPO ORPHA:231178 NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:3220 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PLEC plectin IAGP HPO ORPHA:257 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G PLK4 polo like kinase 4 IAGP HPO ORPHA:808 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO ORPHA:808 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO ORPHA:85199 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
JBrowse link
G ROGDI rogdi atypical leucine zipper IAGP HPO ORPHA:1946 NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO ORPHA:2050 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO ORPHA:1946 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:1782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO ORPHA:2323 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:1782 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO ORPHA:1782 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:1896 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP HPO ORPHA:1334 NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
JBrowse link
G TRAIP TRAF interacting protein IAGP HPO ORPHA:808 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G USH1C USH1 protein network component harmonin IAGP HPO ORPHA:231169 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH1G USH1 protein network component sans IAGP HPO ORPHA:231169 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
JBrowse link
G USH2A usherin IAGP HPO ORPHA:231178 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:1515 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:1515 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WHRN whirlin IAGP HPO ORPHA:231178 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473
JBrowse link
Abnormal dental morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP HPO MIM:148600 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195
JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO MIM:277600 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735
JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO ORPHA:2176 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:568 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CDH3 cadherin 3 IAGP HPO MIM:601553 ORPHA:1897 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO MIM:272440 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:210110 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G CSTB cystatin B IAGP HPO ORPHA:248 NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDAR ectodysplasin A receptor IAGP HPO ORPHA:1810 ORPHA:248 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:1810 ORPHA:248 ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:608328 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:163200 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G KDF1 keratinocyte differentiation factor 1 IAGP HPO ORPHA:1810 NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:163200 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:69087 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT71 keratin 71 IAGP HPO MIM:615896 NCBI chr12:52,543,909...52,553,145
Ensembl chr12:52,543,909...52,553,145
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:1458 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:2228 ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO ORPHA:568 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:163200 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PKP1 plakophilin 1 IAGP HPO ORPHA:158668 NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO ORPHA:210110 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758
JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:1713 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO ORPHA:85199 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SATB1 SATB homeobox 1 IAGP HPO MIM:619229 NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621
JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO ORPHA:184 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291
JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:210110 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:978 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TRAF6 TNF receptor associated factor 6 IAGP HPO ORPHA:1810 NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP HPO MIM:618531 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:248 ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
G ZNF141 zinc finger protein 141 IAGP HPO MIM:615226 NCBI chr 4:337,814...384,868
Ensembl chr 4:337,814...384,868
JBrowse link
Abnormal dental pulp morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
Abnormal dentin morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP4 acid phosphatase 4 IAGP HPO MIM:617297 NCBI chr19:50,790,415...50,795,219
Ensembl chr19:50,790,415...50,795,219
JBrowse link
G AMELX amelogenin X-linked IAGP HPO MIM:301200 NCBI chr  X:11,293,413...11,309,588
Ensembl chr  X:11,293,413...11,300,761
JBrowse link
G CDH11 cadherin 11 IAGP HPO ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
JBrowse link
G DSPP dentin sialophosphoprotein IAGP DNA:snp, missense mutations:intron, cds:g.87612175G>A, p.P17T, p.V18P RGD PMID:11175790 RGD:12910984 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
Abnormal molar morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
Abnormal number of permanent teeth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Abnormal periodontium morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 severity
no_association
IAGP DNA:insertion:promoter:g.-1607insG RGD PMID:12622858 PMID:15312099 RGD:7207045, RGD:7207046 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
Abnormal primary molar morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Abnormal spaced incisors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
JBrowse link
G DOCK7 dedicator of cytokinesis 7 IAGP HPO ORPHA:411986 NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386
JBrowse link
Abnormality of canine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:261584 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO ORPHA:477993 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Abnormality of dental color term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP HPO ORPHA:231178 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G AMBN ameloblastin IAGP HPO MIM:616270 NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288
JBrowse link
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP HPO ORPHA:1873 NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:251393 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO ORPHA:1031 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:163200 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:251393 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:163200 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MYO7A myosin VIIA IAGP HPO ORPHA:231178 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:163200 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PDZD7 PDZ domain containing 7 IAGP HPO ORPHA:231178 NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
JBrowse link
G ROGDI rogdi atypical leucine zipper IAGP HPO ORPHA:1946 NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880
JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO ORPHA:1946 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
JBrowse link
G USH2A usherin IAGP HPO ORPHA:231178 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G WHRN whirlin IAGP HPO ORPHA:231178 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473
JBrowse link
Abnormality of dental eruption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Abnormality of dental structure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
JBrowse link
Abnormality of primary teeth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO ORPHA:75496 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
JBrowse link
G PURA purine rich element binding protein A IAGP HPO ORPHA:438216 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO MIM:150400 MIM:257980 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
Advanced eruption of teeth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox IAGP HPO MIM:615873 ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO ORPHA:952 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:952 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G INSR insulin receptor IAGP HPO MIM:262190 ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G KRT16 keratin 16 IAGP HPO ORPHA:2309 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
JBrowse link
G KRT17 keratin 17 IAGP HPO ORPHA:2309 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G KRT6A keratin 6A IAGP HPO ORPHA:2309 NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
JBrowse link
G KRT6B keratin 6B IAGP HPO ORPHA:2309 NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:2348 ORPHA:280365 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:614753 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO MIM:117550 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP HPO ORPHA:1519 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO MIM:617865 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
JBrowse link
Agenesis of canine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX59 DEAD-box helicase 59 IAGP HPO ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
Agenesis of central incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Agenesis of first permanent molar tooth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Agenesis of incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO MIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
JBrowse link
G CDH11 cadherin 11 IAGP HPO MIM:211380 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
JBrowse link
G DLX3 distal-less homeobox 3 IAGP HPO ORPHA:3352 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
Agenesis of lateral incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO MIM:616788 ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Agenesis of mandibular central incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO MIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
Agenesis of mandibular lateral incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OFD1 OFD1 centriole and centriolar satellite protein IAGP DNA:deletion:exon:c.2183delG (human) RGD PMID:21729220 RGD:11535960 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
Agenesis of mandibular premolar term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Agenesis of maxillary incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP HPO MIM:620545 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO ORPHA:1401 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
Agenesis of maxillary lateral incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:309800 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BLM BLM RecQ like helicase IAGP HPO MIM:210900 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO MIM:616390 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Missing upper lateral incisor ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:309800 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP ClinVar Annotator: match by term: Missing upper lateral incisor ClinVar PMID:25741868 PMID:30345601 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Agenesis of molar term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A IAGP HPO MIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G TCF12 transcription factor 12 IAGP HPO MIM:619718 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
JBrowse link
Agenesis of permanent molar term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX9 paired box 9 IAGP HPO MIM:604625 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
Agenesis of permanent teeth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G C1R complement C1r IAGP HPO ORPHA:75392 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C1S complement C1s IAGP HPO ORPHA:75392 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:618332 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO MIM:616894 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:618333 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO MIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO MIM:616724 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO MIM:618644 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO MIM:189500 ORPHA:2228 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:311200 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
G RAD51 RAD51 recombinase IAGP HPO MIM:617244 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:268400 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO ORPHA:1401 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:251028 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP ClinVar Annotator: match by term: Agenesis of permanent teeth ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO MIM:614091 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO MIM:150400 MIM:257980 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
Agenesis of premolar term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:313500 ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Alveolar bone loss around teeth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1R complement C1r IAGP HPO MIM:130080 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
HPO
PMID:27843125 MIM:617297 NCBI chr19:50,790,415...50,795,219
Ensembl chr19:50,790,415...50,795,219
JBrowse link
G AMBN ameloblastin IAGP HPO MIM:616270 NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288
JBrowse link
G AMELX amelogenin X-linked IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
HPO
MIM:301200 NCBI chr  X:11,293,413...11,309,588
Ensembl chr  X:11,293,413...11,300,761
JBrowse link
G AMTN amelotin IAGP HPO MIM:617607 NCBI chr 4:70,518,569...70,532,743
Ensembl chr 4:70,518,569...70,532,743
JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:11,137,544...11,665,920
Ensembl chr  X:11,117,651...11,665,920
JBrowse link
G BNC2 basonuclin zinc finger protein 2 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843
JBrowse link
G BNC2-AS1 BNC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 9:16,726,814...16,727,524
Ensembl chr 9:16,726,804...16,727,551
JBrowse link
G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 7:56,101,573...56,106,476
Ensembl chr 7:56,094,567...56,106,479
JBrowse link
G CLDN16 claudin 16 IAGP HPO MIM:248250 NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
JBrowse link
G CLDN19 claudin 19 IAGP HPO MIM:248190 NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254
JBrowse link
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP HPO ORPHA:1873 NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G DLX3 distal-less homeobox 3 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
HPO
PMID:25741868 MIM:104510 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:617052 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G ENAM enamelin IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
HPO
PMID:25741868 PMID:28492532 MIM:104500 MIM:204650 NCBI chr 4:70,628,744...70,646,824
Ensembl chr 4:70,628,744...70,646,824
JBrowse link
G