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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:Abnormal odontoid tissue morphology
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Accession:HP:3000050 term browser browse the term
Definition:An abnormality of an odontoid tissue.
Synonyms:exact_synonym: Abnormality of odontoid tissue;   abnormality of hard tissues of teeth;   abnormality of tooth hard tissue
 xref: UMLS:C4073258


show annotations for term's descendants           Sort by:
Abnormal odontoid tissue morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:401911 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
Abnormal dental enamel morphology term browser
Symbol Object Name 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 CPAP centrosome assembly and centriole elongation protein IAGP HPO ORPHA:808 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889 		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 PTEN phosphatase and tensin homolog IAGP HPO ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		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
Amelogenesis imperfecta term browser
Symbol Object Name 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 FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO MIM:204690 ORPHA:1031 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G GPR68 G protein-coupled receptor 68 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
HPO		 PMID:27693231 MIM:617217 NCBI chr14:91,232,532...91,270,790
Ensembl chr14:91,232,532...91,253,925 		JBrowse link
G ITGB6 integrin subunit beta 6 IAGP HPO MIM:616221 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
G KLK4 kallikrein related peptidase 4 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
HPO		 MIM:204700 NCBI chr19:50,906,351...50,911,395
Ensembl chr19:50,906,351...50,911,395 		JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO MIM:245660 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta HPO
ClinVar		 MIM:104530 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
HPO		 PMID:35998423 MIM:601216 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MMP20 matrix metallopeptidase 20 IAGP HPO MIM:612529 NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332 		JBrowse link
G ODAPH odontogenesis associated phosphoprotein IAGP HPO MIM:614832 NCBI chr 4:75,556,066...75,565,893
Ensembl chr 4:75,556,048...75,565,871 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO MIM:612782 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:234580 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 MIM:616617 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PSPH phosphoserine phosphatase IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:28492532 NCBI chr 7:56,011,064...56,051,444
Ensembl chr 7:56,011,051...56,051,604 		JBrowse link
G RELT RELT TNF receptor IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta HPO
ClinVar		 PMID:25741868 PMID:30506946 PMID:32052416 MIM:618386 NCBI chr11:73,376,399...73,397,474
Ensembl chr11:73,376,399...73,397,474 		JBrowse link
G ROGDI rogdi atypical leucine zipper IAGP HPO MIM:226750 ORPHA:1946 NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880 		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 SLC10A7 solute carrier family 10 member 7 IAGP HPO MIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO MIM:615905 ORPHA:1946 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		JBrowse link
G SLC24A4 solute carrier family 24 member 4 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
HPO		 MIM:615887 NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481 		JBrowse link
G SMARCD2 SWI/SNF related BAF chromatin remodeling complex subunit D2 IAGP HPO MIM:617475 NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065 		JBrowse link
G SP6 Sp6 transcription factor IAGP HPO MIM:620104 NCBI chr17:47,844,908...47,876,311
Ensembl chr17:47,844,908...47,855,874 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO MIM:612783 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP HPO MIM:614727 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397 		JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
HPO		 PMID:24033266 PMID:25741868 MIM:613211 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878 		JBrowse link
Dental enamel pits term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 COL17A1 collagen type XVII alpha 1 chain IAGP HPO MIM:619787 ORPHA:251393 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 HPO ORPHA:3352 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP HPO MIM:125500 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		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 ITGB6 integrin subunit beta 6 IAGP HPO MIM:616221 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO MIM:104530 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Tooth enamel pits ClinVar
HPO		 PMID:25741868 MIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Dentinogenesis imperfecta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO MIM:614856 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP HPO MIM:619795 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,679...41,832,164 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar
HPO		 PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More... MIM:166200 MIM:166220 MIM:259420 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar
HPO		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:16705691 PMID:17078022 More... MIM:166220 MIM:259420 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO MIM:610682 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar
HPO		 MIM:125490 MIM:125500 MIM:605594 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO MIM:610968 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO MIM:610967 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:301014 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO MIM:619269 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO MIM:610915 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO MIM:112240 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO MIM:259440 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO MIM:616294 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO MIM:613982 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO MIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO MIM:613849 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO MIM:616507 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975 		JBrowse link
G TMEM38B transmembrane protein 38B IAGP HPO MIM:615066 NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO MIM:184260 ORPHA:166272 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO MIM:229200 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
Dentinogenesis imperfecta limited to primary teeth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein IAGP HPO MIM:125420 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
Enamel agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP HPO MIM:217080 NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO MIM:614701 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
Enamel hypomineralization term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 DIAPH1 diaphanous related formin 1 IAGP HPO ORPHA:494444 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		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 ENAM enamelin IAGP HPO MIM:204650 NCBI chr 4:70,628,744...70,646,824
Ensembl chr 4:70,628,744...70,646,824 		JBrowse link
G GPR68 G protein-coupled receptor 68 IAGP HPO MIM:617217 NCBI chr14:91,232,532...91,270,790
Ensembl chr14:91,232,532...91,253,925 		JBrowse link
G KLK4 kallikrein related peptidase 4 IAGP HPO MIM:204700 NCBI chr19:50,906,351...50,911,395
Ensembl chr19:50,906,351...50,911,395 		JBrowse link
G ODAPH odontogenesis associated phosphoprotein IAGP HPO MIM:614832 NCBI chr 4:75,556,066...75,565,893
Ensembl chr 4:75,556,048...75,565,871 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO MIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G WDR72 WD repeat domain 72 IAGP HPO MIM:613211 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878 		JBrowse link
Enamel hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
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 AIRE autoimmune regulator IAGP HPO MIM:240300 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO MIM:270200 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760 		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 HPO MIM:301200 NCBI chr  X:11,293,413...11,309,588
Ensembl chr  X:11,293,413...11,300,761 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO MIM:210600 MIM:614564 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		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 CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO MIM:613823 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP HPO MIM:618205 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G CLDN1 claudin 1 IAGP HPO MIM:607626 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446 		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 COG6 component of oligomeric golgi complex 6 IAGP HPO MIM:614576 MIM:615328 ORPHA:363523 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:251393 ORPHA:79402 ORPHA:79406 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO MIM:226600 ORPHA:79408 ORPHA:79409 ORPHA:79410 ORPHA:79411 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:617915 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTSK cathepsin K IAGP ClinVar Annotator: match by term: Enamel hypoplasia HPO
ClinVar		 PMID:24767306 PMID:25741868 PMID:28492532 PMID:31944631 ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO MIM:264700 ORPHA:289157 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP HPO ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
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
G DLX3 distal-less homeobox 3 IAGP HPO 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 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 EP300 E1A binding protein p300 IAGP HPO MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 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:33364 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 MIM:610965 ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90321 ORPHA:90322 ORPHA:90324 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 MIM:216400 ORPHA:90321 ORPHA:90322 ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO MIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO MIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO MIM:620193 ORPHA:2363 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		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 FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:149730 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 FLNB filamin B IAGP HPO MIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP HPO MIM:211900 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:103580 MIM:612462 MIM:612463 ORPHA:79443 ORPHA:79444 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		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 GRHL2 grainyhead like transcription factor 2 IAGP HPO MIM:616029 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP HPO MIM:212750 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO MIM:212750 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO MIM:218330 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		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 IRX5 iroquois homeobox 5 IAGP HPO MIM:611174 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485 		JBrowse link
G ITGA6 integrin subunit alpha 6 IAGP HPO ORPHA:79403 NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO MIM:226730 ORPHA:251393 ORPHA:79402 ORPHA:79403 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G ITGB6 integrin subunit beta 6 IAGP HPO MIM:616221 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:69087 ORPHA:79396 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:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO MIM:226700 MIM:245660 ORPHA:79402 ORPHA:79404 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO MIM:104530 MIM:226650 MIM:226700 ORPHA:79402 ORPHA:79404 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO MIM:226700 ORPHA:79402 ORPHA:79404 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:600373 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 MIM:212780 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		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 MMP1 matrix metallopeptidase 1 IAGP HPO MIM:226600 ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		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 NECTIN4 nectin cell adhesion molecule 4 IAGP HPO MIM:613573 NCBI chr 1:161,070,998...161,089,558
Ensembl chr 1:161,070,998...161,089,558 		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 NUP133 nucleoporin 133 IAGP HPO MIM:618349 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO MIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G ODAPH odontogenesis associated phosphoprotein IAGP HPO MIM:614832 NCBI chr 4:75,556,066...75,565,893
Ensembl chr 4:75,556,048...75,565,871 		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 PAK2 p21 (RAC1) activated kinase 2 IAGP HPO MIM:618458 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647 		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 PCNT pericentrin IAGP HPO MIM:210720 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:234580 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		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 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 PLEC plectin IAGP HPO MIM:226670 MIM:226730 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO MIM:305600 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 MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G RHOA ras homolog family member A IAGP HPO MIM:618727 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G ROGDI rogdi atypical leucine zipper IAGP HPO MIM:226750 NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		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 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP HPO MIM:619184 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO MIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO MIM:300896 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO MIM:619293 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SMOC2 SPARC related modular calcium binding 2 IAGP HPO MIM:125400 NCBI chr 6:168,441,184...168,667,992
Ensembl chr 6:168,441,151...168,673,445 		JBrowse link
G SP6 Sp6 transcription factor IAGP HPO MIM:620104 NCBI chr17:47,844,908...47,876,311
Ensembl chr17:47,844,908...47,855,874 		JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526 		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 TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		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 TP63 tumor protein p63 IAGP HPO MIM:129400 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO MIM:243150 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
G VDR vitamin D receptor IAGP HPO MIM:277440 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		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
Grayish enamel term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
Hypocalcification of dental enamel term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RELT RELT TNF receptor IAGP HPO MIM:618386 NCBI chr11:73,376,399...73,397,474
Ensembl chr11:73,376,399...73,397,474 		JBrowse link
Hypomature dental enamel term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR72 WD repeat domain 72 IAGP HPO MIM:613211 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878 		JBrowse link
Hypomature enamel term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 MMP20 matrix metallopeptidase 20 IAGP HPO MIM:612529 NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332 		JBrowse link
Odontodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein IAGP DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS HPO
RGD		 PMID:15690376 MIM:125500, RGD:12911015 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
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the musculoskeletal system 9725
        Abnormality of connective tissue 2030
          Abnormal odontoid tissue morphology 263
            Abnormal cementum morphology + 0
            Abnormal dental enamel morphology + 246
            Dentinogenesis imperfecta + 23
paths to the root