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amelogenesis imperfecta - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:amelogenesis imperfecta
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Accession:DOID:2187 term browser browse the term
Definition:A dental enamel hypoplasia characterized by abnormal enamel formation. (DO)
Synonyms:exact_synonym: congenital enamel hypoplasia
 narrow_synonym: AMELOGENESIS IMPERFECTA TYPE 1
 related_synonym: dental hypomineralization
 primary_id: MESH:D000567
 alt_id: OMIA:002015
 xref: GARD:5791;   MIM:PS104500;   ORDO:88661
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
amelogenesis imperfecta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chrNW_004624832:3,896,782...3,901,312
Ensembl chrNW_004624832:3,897,819...3,901,293 		JBrowse link
G G ACP4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr 6:43,838,103...43,843,715
Ensembl chr 6:43,838,321...43,843,654 		JBrowse link
G P ACP4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr 6:55,535,406...55,541,929
Ensembl chr 6:55,536,904...55,541,968 		JBrowse link
G S Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chrNW_004936889:510,667...515,831
Ensembl chrNW_004936889:510,667...515,075 		JBrowse link
G D ACP4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr 1:106,051,901...106,056,137
Ensembl chr 1:106,051,901...106,056,137 		JBrowse link
G B ACP4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr19:47,754,780...47,760,294
Ensembl chr19:56,649,018...56,653,909 		JBrowse link
G C Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chrNW_004955559:481,953...488,464
Ensembl chrNW_004955559:483,071...486,592 		JBrowse link
G R Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr 1:103,872,922...103,888,418
Ensembl chr 1:94,735,514...94,744,623 		JBrowse link
G M Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr 7:43,901,427...43,910,814
Ensembl chr 7:43,901,572...43,906,802 		JBrowse link
G H ACP4 acid phosphatase 4 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr19:50,790,415...50,795,219
Ensembl chr19:50,790,415...50,795,219 		JBrowse link
G N Amelx amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004624882:3,072,970...3,083,832
Ensembl chrNW_004624882:3,072,313...3,082,505 		JBrowse link
G G AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:9,927,740...9,934,104
Ensembl chr  X:9,741,594...9,745,776
Ensembl chr  X:9,741,594...9,745,776 		JBrowse link
G P AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:8,055,246...8,063,457
Ensembl chr  X:8,055,782...8,063,449 		JBrowse link
G S Amelx amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936470:1,169,906...1,174,166
Ensembl chrNW_004936470:1,169,906...1,179,604 		JBrowse link
G D AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:7,822,513...7,828,692
Ensembl chr  X:7,822,859...7,830,351 		JBrowse link
G B AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar Ensembl chr  X:11,214,103...11,221,443 JBrowse link
G C Amelx amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004955544:1,974,889...1,979,063
Ensembl chrNW_004955544:1,969,216...1,979,063 		JBrowse link
G R Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
RGD		 PMID:8406474 RGD:1300370 NCBI chr  X:28,648,803...28,660,099
Ensembl chr  X:25,076,362...25,087,660 		JBrowse link
G M Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
RGD		 PMID:8406474 RGD:1300370 NCBI chr  X:167,959,110...167,970,205
Ensembl chr  X:167,959,110...167,970,196 		JBrowse link
G H AMELX amelogenin X-linked IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
RGD		 PMID:8406474 RGD:1300370 NCBI chr  X:11,293,413...11,309,588
Ensembl chr  X:11,293,413...11,300,761 		JBrowse link
G N Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004624882:2,706,827...3,211,600
Ensembl chrNW_004624882:2,708,089...3,211,766 		JBrowse link
G G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
G P ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:7,910,851...8,441,579
Ensembl chr  X:7,910,858...8,120,386 		JBrowse link
G S Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936470:1,048,145...1,501,970
Ensembl chrNW_004936470:1,049,461...1,500,877 		JBrowse link
G D ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:7,704,838...8,188,358
Ensembl chr  X:7,706,156...7,951,557 		JBrowse link
G B ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:3,767,259...4,291,738
Ensembl chr  X:11,058,207...11,582,115 		JBrowse link
G C Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004955544:1,619,742...2,095,314
Ensembl chrNW_004955544:1,620,838...2,095,220 		JBrowse link
G R Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:28,525,912...29,062,344
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
G M Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431 		JBrowse link
G H 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 N Bnc2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chrNW_004624736:20,488,854...20,917,614
Ensembl chrNW_004624736:20,491,388...20,916,729 		JBrowse link
G G BNC2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chr12:62,775,827...63,233,077
Ensembl chr12:62,777,045...63,223,696 		JBrowse link
G P BNC2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,925,091...206,372,121 		JBrowse link
G S Bnc2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chrNW_004936771:747,487...1,036,546
Ensembl chrNW_004936771:747,496...1,036,122 		JBrowse link
G D BNC2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chr11:36,511,581...36,950,111
Ensembl chr11:36,514,166...36,950,679 		JBrowse link
G B BNC2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chr 9:16,230,704...16,684,863
Ensembl chr 9:16,733,344...17,182,609 		JBrowse link
G C Bnc2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chrNW_004955434:19,156,746...19,568,983
Ensembl chrNW_004955434:19,165,912...19,515,720 		JBrowse link
G R Bnc2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chr 5:103,724,934...104,061,890
Ensembl chr 5:98,687,410...99,079,426 		JBrowse link
G M Bnc2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chr 4:84,185,041...84,593,236
Ensembl chr 4:84,193,332...84,593,512 		JBrowse link
G H BNC2 basonuclin zinc finger protein 2 IAGP ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843 		JBrowse link
G H BNC2-AS1 BNC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar NCBI chr 9:16,726,814...16,727,524
Ensembl chr 9:16,726,804...16,727,551 		JBrowse link
G N Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004624740:8,279,416...8,283,730
Ensembl chrNW_004624740:8,278,078...8,283,657 		JBrowse link
G G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr21:2,675,522...2,680,406 JBrowse link
G P CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 3:16,812,409...16,819,130
Ensembl chr 3:16,812,404...16,819,124 		JBrowse link
G S Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936543:7,860,432...7,864,050
Ensembl chrNW_004936543:7,860,448...7,863,983 		JBrowse link
G D CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:581,276...585,367
Ensembl chr 6:581,280...585,301 		JBrowse link
G B CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 7:56,714,583...56,719,640
Ensembl chr 7:57,134,303...57,141,765 		JBrowse link
G C Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004955456:8,260,533...8,265,488
Ensembl chrNW_004955456:8,255,898...8,265,488 		JBrowse link
G R Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr12:32,464,847...32,470,871
Ensembl chr12:26,828,736...26,834,755 		JBrowse link
G M Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:129,910,002...129,916,311
Ensembl chr 5:129,909,997...129,916,311 		JBrowse link
G H 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 N Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chrNW_004624831:3,145,445...3,190,498
Ensembl chrNW_004624831:3,146,527...3,185,396 		JBrowse link
G G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545 		JBrowse link
G P COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		JBrowse link
G S Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173 		JBrowse link
G D COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056 		JBrowse link
G B COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr10:100,630,959...100,685,715 JBrowse link
G C Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chrNW_004955485:6,568,178...6,616,972 JBrowse link
G R Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr 1:256,472,648...256,518,857
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
G M Col17a1 collagen, type XVII, alpha 1 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533 		JBrowse link
G H 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 N Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:2,569,510...2,599,959 JBrowse link
G G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626 		JBrowse link
G P COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr13:31,262,750...31,295,112 JBrowse link
G S Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chrNW_004936529:348,938...381,701 JBrowse link
G D COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935 		JBrowse link
G B COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
G C Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chrNW_004955532:650,913...681,186 JBrowse link
G R Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G M Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943 		JBrowse link
G H COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G N Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chrNW_004624795:6,014,044...6,018,819
Ensembl chrNW_004624795:6,015,523...6,018,684 		JBrowse link
G G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095 		JBrowse link
G P DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157 		JBrowse link
G S Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chrNW_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131 		JBrowse link
G D DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736 		JBrowse link
G B DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848 		JBrowse link
G C Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chrNW_004955451:11,635,027...11,640,091
Ensembl chrNW_004955451:11,635,025...11,640,094 		JBrowse link
G R Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr10:80,561,335...80,566,730
Ensembl chr10:80,064,489...80,069,872 		JBrowse link
G M Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G H DLX3 distal-less homeobox 3 IAGP ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224 		JBrowse link
G N Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624890:1,970,153...1,982,428
Ensembl chrNW_004624890:1,970,153...1,982,428 		JBrowse link
G G ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:19,138,789...19,158,136
Ensembl chr 7:19,141,116...19,156,759 		JBrowse link
G P ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086 		JBrowse link
G S Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936598:4,118,031...4,132,342
Ensembl chrNW_004936598:4,118,579...4,132,692 		JBrowse link
G D ENAM enamelin ISO
IAGP		 ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia
Amelogenesis imperfecta, ENAM-related		 ClinVar
OMIA		 PMID:23638899 PMID:25741868 PMID:28492532 PMID:29201383 PMID:29744112 More... NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949 		JBrowse link
G B ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:53,574,316...53,592,465
Ensembl chr 4:59,920,000...59,938,884 		JBrowse link
G C Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955447:2,331,251...2,345,459
Ensembl chrNW_004955447:2,331,251...2,346,110 		JBrowse link
G R Enam enamelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia		 CTD
ClinVar		 PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532 NCBI chr14:19,840,773...19,865,476
Ensembl chr14:19,556,729...19,581,425 		JBrowse link
G M Enam enamelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia		 CTD
ClinVar		 PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532 NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908 		JBrowse link
G H ENAM enamelin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia		 CTD
ClinVar		 PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532 NCBI chr 4:70,628,744...70,646,824
Ensembl chr 4:70,628,744...70,646,824 		JBrowse link
G N Fam20c FAM20C golgi associated secretory pathway kinase ISO Dental hypomineralization
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)		 OMIA
RGD		 PMID:22732358 PMID:25928877 PMID:27187611 PMID:27803843 RGD:11560487 RGD:11560491 NCBI chrNW_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649 		JBrowse link
G P FAM20C FAM20C golgi associated secretory pathway kinase ISO Dental hypomineralization
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)		 RGD
OMIA		 PMID:22732358 PMID:25928877 PMID:27187611 PMID:27803843 RGD:11560487 RGD:11560491 NCBI chr 3:159,107...200,462
Ensembl chr 3:163,421...200,459 		JBrowse link
G S Fam20c FAM20C golgi associated secretory pathway kinase ISO Dental hypomineralization
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)		 RGD
OMIA		 PMID:22732358 PMID:25928877 PMID:27187611 PMID:27803843 RGD:11560487 RGD:11560491 NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098 		JBrowse link
G D FAM20C FAM20C golgi associated secretory pathway kinase IAGP Dental hypomineralization OMIA PMID:27187611 PMID:27803843 NCBI chr 6:16,448,603...16,497,064
Ensembl chr 6:16,448,588...16,497,752 		JBrowse link
G B FAM20C FAM20C golgi associated secretory pathway kinase ISO DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)
Dental hypomineralization		 RGD
OMIA		 PMID:22732358 PMID:25928877 PMID:27187611 PMID:27803843 RGD:11560487 RGD:11560491 NCBI chr 7:311,468...394,623 JBrowse link
G C Fam20c FAM20C golgi associated secretory pathway kinase ISO DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)
Dental hypomineralization		 RGD
OMIA		 PMID:22732358 PMID:25928877 PMID:27187611 PMID:27803843 RGD:11560487 RGD:11560491 NCBI chrNW_004955460:8,142,325...8,192,044
Ensembl chrNW_004955460:8,143,824...8,193,825 		JBrowse link
G R Fam20c FAM20C, golgi associated secretory pathway kinase ISO DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358 PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr12:20,940,654...20,999,072
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G M Fam20c FAM20C, golgi associated secretory pathway kinase IMP
ISO		 DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358 PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832 		JBrowse link
G H FAM20C FAM20C golgi associated secretory pathway kinase ISO
IAGP		 DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358 PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G N Fam83h family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chrNW_004624735:13,035,896...13,048,658
Ensembl chrNW_004624735:13,042,060...13,048,658 		JBrowse link
G G FAM83H family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394 		JBrowse link
G P FAM83H family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517 		JBrowse link
G S Fam83h family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chrNW_004936470:8,413,055...8,418,360
Ensembl chrNW_004936470:8,406,912...8,418,895 		JBrowse link
G D FAM83H family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834 		JBrowse link
G B FAM83H family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 8:140,476,051...140,492,613
Ensembl chr 8:143,491,945...143,496,919 		JBrowse link
G C Fam83h family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chrNW_004955454:2,421,393...2,436,012
Ensembl chrNW_004955454:2,422,237...2,427,194 		JBrowse link
G R Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 7:109,597,129...109,605,317
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G M Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		JBrowse link
G H FAM83H family with sequence similarity 83 member H EXP CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234 		JBrowse link
G N Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chrNW_004624734:11,338,233...11,370,239
Ensembl chrNW_004624734:11,360,053...11,368,757 		JBrowse link
G G GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr24:68,998,721...69,027,237
Ensembl chr24:68,998,805...68,999,902 		JBrowse link
G P GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,904,246 		JBrowse link
G S Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chrNW_004936488:18,257,765...18,278,530
Ensembl chrNW_004936488:18,259,866...18,260,993 		JBrowse link
G D GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 8:62,090,050...62,108,922
Ensembl chr 8:62,092,135...62,093,217 		JBrowse link
G B GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr14:71,859,025...71,891,126
Ensembl chr14:91,207,679...91,208,806 		JBrowse link
G C Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chrNW_004955438:13,553,770...13,575,093
Ensembl chrNW_004955438:13,555,379...13,559,465 		JBrowse link
G R Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 6:125,865,205...125,895,674
Ensembl chr 6:120,135,436...120,166,089 		JBrowse link
G M Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457 		JBrowse link
G H GPR68 G protein-coupled receptor 68 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr14:91,232,532...91,270,790
Ensembl chr14:91,232,532...91,253,925 		JBrowse link
G N Klk4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004624832:3,828,676...3,832,025
Ensembl chrNW_004624832:3,828,679...3,831,767 		JBrowse link
G G KLK4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:43,921,920...43,935,224
Ensembl chr 6:43,922,052...43,934,253 		JBrowse link
G P KLK4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294 		JBrowse link
G S Klk4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936889:583,259...586,412
Ensembl chrNW_004936889:583,302...586,412 		JBrowse link
G D KLK4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 1:105,950,948...105,955,464
Ensembl chr 1:105,951,691...106,007,581 		JBrowse link
G B KLK4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr19:47,849,158...47,876,522
Ensembl chr19:56,764,073...56,768,169 		JBrowse link
G R Klk4 kallikrein-related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 1:94,344,195...94,349,425
Ensembl chr 1:94,344,195...94,349,424 		JBrowse link
G M Klk4 kallikrein related-peptidase 4 (prostase, enamel matrix, prostate) ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 7:43,530,584...43,535,228
Ensembl chr 7:43,530,584...43,535,228 		JBrowse link
G H KLK4 kallikrein related peptidase 4 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr19:50,906,351...50,911,395
Ensembl chr19:50,906,351...50,911,395 		JBrowse link
G N Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004624807:2,320,168...2,378,349 JBrowse link
G G LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684 		JBrowse link
G P LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		JBrowse link
G S Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954 		JBrowse link
G D LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474 		JBrowse link
G B LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 1:185,191,401...185,245,154
Ensembl chr 1:189,996,639...190,034,206 		JBrowse link
G C Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595 		JBrowse link
G R Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr13:107,362,514...107,404,081
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
G M Lamb3 laminin, beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186 		JBrowse link
G H LAMB3 laminin subunit beta 3 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G N Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624814:10,475,629...10,536,694
Ensembl chrNW_004624814:10,476,323...10,536,724 		JBrowse link
G G LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753 		JBrowse link
G P LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		JBrowse link
G S Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188 		JBrowse link
G D LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085 		JBrowse link
G B LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:158,697,084...158,763,209
Ensembl chr 1:162,862,785...162,921,864 		JBrowse link
G C Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942 		JBrowse link
G R Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:67,835,199...67,894,694
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
G M Lamc2 laminin, gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193 		JBrowse link
G H LAMC2 laminin subunit gamma 2 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127 		JBrowse link
G B LOC100993185 putative phosphoserine phosphatase-like protein ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr 7:56,351,434...56,376,714 JBrowse link
G G LOC103246914 FAM20C golgi associated secretory pathway kinase ISO Dental hypomineralization
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)		 OMIA
RGD		 PMID:22732358 PMID:25928877 PMID:27187611 PMID:27803843 RGD:11560487 RGD:11560491 NCBI chr28:21,299,235...21,371,603
Ensembl chr28:21,299,213...21,371,577 		JBrowse link
G N Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:35998423 NCBI chrNW_004624767:20,845,949...20,861,169
Ensembl chrNW_004624767:20,845,949...20,860,673 		JBrowse link
G G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:35998423 NCBI chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740 		JBrowse link
G P LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:35998423 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153 		JBrowse link
G S Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:35998423 NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471 		JBrowse link
G D LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:35998423 NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433 		JBrowse link
G B LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:35998423 NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802 		JBrowse link
G C Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:35998423 NCBI chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855 		JBrowse link
G R Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta		 CTD
ClinVar		 PMID:25669657 PMID:35998423 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G M Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta		 CTD
ClinVar		 PMID:25669657 PMID:35998423 NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G H LTBP3 latent transforming growth factor beta binding protein 3 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta		 CTD
ClinVar		 PMID:25669657 PMID:35998423 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G N Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chrNW_004624740:8,212,051...8,233,358
Ensembl chrNW_004624740:8,213,574...8,226,224 		JBrowse link
G G PSPH phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr21:2,728,490...2,761,805
Ensembl chr21:2,753,284...2,757,008 		JBrowse link
G P PSPH phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952 		JBrowse link
G S Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chrNW_004936543:7,900,319...7,922,529
Ensembl chrNW_004936543:7,900,283...7,922,541 		JBrowse link
G D PSPH phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089 		JBrowse link
G C Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025 		JBrowse link
G R Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr12:32,527,091...32,541,182
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G M Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513 		JBrowse link
G H PSPH phosphoserine phosphatase IAGP ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr 7:56,011,064...56,051,444
Ensembl chr 7:56,011,051...56,051,604 		JBrowse link
G N Relt RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chrNW_004624817:3,555,676...3,575,873
Ensembl chrNW_004624817:3,557,002...3,575,933 		JBrowse link
G G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr 1:64,620,843...64,641,180
Ensembl chr 1:64,633,421...64,640,019 		JBrowse link
G P RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr 9:7,833,387...7,852,469
Ensembl chr 9:7,833,419...7,854,496 		JBrowse link
G S Relt RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chrNW_004936498:2,577,389...2,596,690
Ensembl chrNW_004936498:2,589,291...2,595,207 		JBrowse link
G D RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr21:24,835,792...24,854,739
Ensembl chr21:24,836,858...24,854,023 		JBrowse link
G B RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr11:68,453,109...68,474,262
Ensembl chr11:71,673,955...71,695,103 		JBrowse link
G C Relt RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chrNW_004955414:18,074,487...18,104,972
Ensembl chrNW_004955414:18,075,448...18,093,548 		JBrowse link
G R Relt RELT, TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196 		JBrowse link
G M Relt RELT tumor necrosis factor receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653 		JBrowse link
G H RELT RELT TNF receptor IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr11:73,376,399...73,397,474
Ensembl chr11:73,376,399...73,397,474 		JBrowse link
G N Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004624734:8,911,376...9,069,054
Ensembl chrNW_004624734:8,911,455...9,063,063 		JBrowse link
G G SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr24:70,068,924...70,242,148
Ensembl chr24:70,179,850...70,239,517 		JBrowse link
G P SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 7:113,836,207...114,014,952
Ensembl chr 7:113,836,230...114,014,949 		JBrowse link
G S Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936733:515,546...639,699
Ensembl chrNW_004936733:515,510...639,705 		JBrowse link
G D SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 8:1,570,833...1,685,135
Ensembl chr 8:1,517,560...1,680,208 		JBrowse link
G B SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr14:72,956,230...73,128,851
Ensembl chr14:92,299,507...92,468,939 		JBrowse link
G C Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004955438:14,609,779...14,765,516
Ensembl chrNW_004955438:14,609,424...14,759,673 		JBrowse link
G R Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:127,044,470...127,184,684
Ensembl chr 6:121,280,031...121,414,949 		JBrowse link
G M Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350 		JBrowse link
G H SLC24A4 solute carrier family 24 member 4 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481 		JBrowse link
G N Sp6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chrNW_004624795:4,499,022...4,504,565
Ensembl chrNW_004624795:4,501,141...4,502,280 		JBrowse link
G G SP6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chr16:68,243,319...68,276,951
Ensembl chr16:68,247,695...68,248,825 		JBrowse link
G P SP6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chr12:24,100,769...24,106,828
Ensembl chr12:24,100,801...24,106,792 		JBrowse link
G S Sp6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chrNW_004936490:13,456,393...13,466,813
Ensembl chrNW_004936490:13,456,393...13,465,684 		JBrowse link
G D SP6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chr 9:24,175,979...24,183,245
Ensembl chr 9:24,178,438...24,179,568 		JBrowse link
G B SP6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chr17:9,673,572...9,692,382
Ensembl chr17:9,871,175...9,872,305 		JBrowse link
G C Sp6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chrNW_004955451:13,264,537...13,270,104
Ensembl chrNW_004955451:13,264,756...13,270,104 		JBrowse link
G R Sp6 Sp6 transcription factor IMP RGD PMID:22676574 RGD:10047189 NCBI chr10:82,501,957...82,506,138
Ensembl chr10:82,005,294...82,011,013 		JBrowse link
G M Sp6 trans-acting transcription factor 6 ISO RGD PMID:22676574 RGD:10047189 NCBI chr11:96,904,395...96,915,565
Ensembl chr11:96,904,220...96,915,560 		JBrowse link
G H SP6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chr17:47,844,908...47,876,311
Ensembl chr17:47,844,908...47,855,874 		JBrowse link
G N Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004624731:7,186,570...7,365,900
Ensembl chrNW_004624731:7,205,335...7,367,112 		JBrowse link
G G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754 		JBrowse link
G P WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286 		JBrowse link
G S Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415 		JBrowse link
G D WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874 		JBrowse link
G B WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853 		JBrowse link
G C Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004955409:1,451,506...1,631,976
Ensembl chrNW_004955409:1,467,732...1,674,042 		JBrowse link
G R Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:83,718,897...83,902,128
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
G M Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		JBrowse link
G H WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 OMIM
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chrNW_004624878:277,569...320,093
Ensembl chrNW_004624878:277,558...320,093 		JBrowse link
G G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 OMIM
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 1:93,946,136...93,997,656
Ensembl chr 1:93,947,582...93,996,815 		JBrowse link
G P MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 OMIM
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047 		JBrowse link
G S Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 OMIM
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chrNW_004936551:5,310,426...5,352,883
Ensembl chrNW_004936551:5,310,426...5,352,883 		JBrowse link
G D MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 OMIM
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 5:29,106,717...29,154,628
Ensembl chr 5:29,106,717...29,155,071 		JBrowse link
G B MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 OMIM
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr11:97,518,573...97,566,881
Ensembl chr11:101,011,084...101,059,322 		JBrowse link
G C Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 OMIM
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chrNW_004955412:5,815,450...5,869,016
Ensembl chrNW_004955412:5,815,450...5,869,016 		JBrowse link
G R Mmp20 matrix metallopeptidase 20 ISO
ISS		 ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
OMIM:612529
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 8:13,074,279...13,114,894
Ensembl chr 8:4,789,415...4,830,035 		JBrowse link
G M Mmp20 matrix metallopeptidase 20 (enamelysin) ISO
IAGP		 ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
CTD Direct Evidence: marker/mechanism
OMIM:612529		 OMIM
ClinVar
CTD
MouseDO		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980 		JBrowse link
G H MMP20 matrix metallopeptidase 20 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
OMIM:612529
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332 		JBrowse link
G H MMP20-AS1 MMP20 antisense RNA 1 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 ClinVar PMID:16246936 PMID:18096894 PMID:23355523 NCBI chr11:102,641,124...102,687,212
Ensembl chr11:102,681,310...102,683,913 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3 OMIM
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chrNW_004624731:7,186,570...7,365,900
Ensembl chrNW_004624731:7,205,335...7,367,112 		JBrowse link
G G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3 OMIM
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754 		JBrowse link
G P WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3 OMIM
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286 		JBrowse link
G S Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3 OMIM
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415 		JBrowse link
G D WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3 OMIM
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874 		JBrowse link
G B WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3 OMIM
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853 		JBrowse link
G C Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3 OMIM
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chrNW_004955409:1,451,506...1,631,976
Ensembl chrNW_004955409:1,467,732...1,674,042 		JBrowse link
G R Wdr72 WD repeat domain 72 ISO
ISS		 OMIM:613211
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3		 OMIM
MouseDO
CTD
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr 8:83,718,897...83,902,128
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
G M Wdr72 WD repeat domain 72 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3
OMIM:613211		 OMIM
CTD
ClinVar
MouseDO		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		JBrowse link
G H WDR72 WD repeat domain 72 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3
OMIM:613211
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chrNW_004624730:292,466...298,311 JBrowse link
G G ODAPH odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chr 7:24,062,924...24,073,371
Ensembl chr 7:24,063,695...24,072,500 		JBrowse link
G P ODAPH odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chr 8:71,215,091...71,225,787
Ensembl chr 8:71,215,152...71,226,319 		JBrowse link
G S Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chrNW_004936598:400,214...407,597 JBrowse link
G D ODAPH odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chr32:133,974...141,303
Ensembl chr32:133,816...140,958 		JBrowse link
G B ODAPH odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chr 4:48,640,355...48,649,546
Ensembl chr 4:54,471,278...54,484,548 		JBrowse link
G C Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chrNW_004955474:1,502,798...1,509,307
Ensembl chrNW_004955474:1,502,791...1,509,294 		JBrowse link
G R Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chr14:16,356,104...16,364,420
Ensembl chr14:16,073,058...16,080,129 		JBrowse link
G M Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chr 5:92,135,332...92,143,176
Ensembl chr 5:92,135,334...92,143,179 		JBrowse link
G H ODAPH odontogenesis associated phosphoprotein IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4		 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chr 4:75,556,066...75,565,893
Ensembl chr 4:75,556,048...75,565,871 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chrNW_004624734:8,911,376...9,069,054
Ensembl chrNW_004624734:8,911,455...9,063,063 		JBrowse link
G G SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr24:70,068,924...70,242,148
Ensembl chr24:70,179,850...70,239,517 		JBrowse link
G P SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr 7:113,836,207...114,014,952
Ensembl chr 7:113,836,230...114,014,949 		JBrowse link
G S Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chrNW_004936733:515,546...639,699
Ensembl chrNW_004936733:515,510...639,705 		JBrowse link
G D SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr 8:1,570,833...1,685,135
Ensembl chr 8:1,517,560...1,680,208 		JBrowse link
G B SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr14:72,956,230...73,128,851
Ensembl chr14:92,299,507...92,468,939 		JBrowse link
G C Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chrNW_004955438:14,609,779...14,765,516
Ensembl chrNW_004955438:14,609,424...14,759,673 		JBrowse link
G R Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr 6:127,044,470...127,184,684
Ensembl chr 6:121,280,031...121,414,949 		JBrowse link
G M Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350 		JBrowse link
G H SLC24A4 solute carrier family 24 member 4 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 ClinVar
OMIM		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481 		JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chrNW_004624831:3,145,445...3,190,498
Ensembl chrNW_004624831:3,146,527...3,185,396 		JBrowse link
G G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545 		JBrowse link
G P COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		JBrowse link
G S Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173 		JBrowse link
G D COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056 		JBrowse link
G B COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr10:100,630,959...100,685,715 JBrowse link
G C Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chrNW_004955485:6,568,178...6,616,972 JBrowse link
G R Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr 1:256,472,648...256,518,857
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
G M Col17a1 collagen, type XVII, alpha 1 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533 		JBrowse link
G H COL17A1 collagen type XVII alpha 1 chain IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA		 ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G N Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chrNW_004624807:2,320,168...2,378,349 JBrowse link
G G LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684 		JBrowse link
G P LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		JBrowse link
G S Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954 		JBrowse link
G D LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474 		JBrowse link
G B LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 1:185,191,401...185,245,154
Ensembl chr 1:189,996,639...190,034,206 		JBrowse link
G C Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595 		JBrowse link
G R Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:107,362,514...107,404,081
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
G M Lamb3 laminin, beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186 		JBrowse link
G H LAMB3 laminin subunit beta 3 IAGP
EXP		 ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA
ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G H LOC126805999 MED14-independent group 3 enhancer GRCh37_chr1:209825272-209826471 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:25741868 NCBI chr 1:209,651,927...209,653,126 JBrowse link
amelogenesis imperfecta type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chrNW_004624831:3,145,445...3,190,498
Ensembl chrNW_004624831:3,146,527...3,185,396 		JBrowse link
G G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545 		JBrowse link
G P COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		JBrowse link
G S Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173 		JBrowse link
G D COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056 		JBrowse link
G B COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chr10:100,630,959...100,685,715 JBrowse link
G C Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chrNW_004955485:6,568,178...6,616,972 JBrowse link
G R Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chr 1:256,472,648...256,518,857
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
G M Col17a1 collagen, type XVII, alpha 1 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533 		JBrowse link
G H COL17A1 collagen type XVII alpha 1 chain IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar PMID:25741868 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G N Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624795:6,014,044...6,018,819
Ensembl chrNW_004624795:6,015,523...6,018,684 		JBrowse link
G G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095 		JBrowse link
G P DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157 		JBrowse link
G S Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131 		JBrowse link
G D DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736 		JBrowse link
G B DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848 		JBrowse link
G C Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955451:11,635,027...11,640,091
Ensembl chrNW_004955451:11,635,025...11,640,094 		JBrowse link
G R Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr10:80,561,335...80,566,730
Ensembl chr10:80,064,489...80,069,872 		JBrowse link
G M Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G H DLX3 distal-less homeobox 3 IAGP ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224 		JBrowse link
G N Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B OMIM
ClinVar		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... NCBI chrNW_004624890:1,970,153...1,982,428
Ensembl chrNW_004624890:1,970,153...1,982,428 		JBrowse link
G G ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B OMIM
ClinVar		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... NCBI chr 7:19,138,789...19,158,136
Ensembl chr 7:19,141,116...19,156,759 		JBrowse link
G P ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B OMIM
ClinVar		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... NCBI chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086 		JBrowse link
G S Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B OMIM
ClinVar		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... NCBI chrNW_004936598:4,118,031...4,132,342
Ensembl chrNW_004936598:4,118,579...4,132,692 		JBrowse link
G D ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B OMIM
ClinVar		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949 		JBrowse link
G B ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B OMIM
ClinVar		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... NCBI chr 4:53,574,316...53,592,465
Ensembl chr 4:59,920,000...59,938,884 		JBrowse link
G C Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B OMIM
ClinVar		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... NCBI chrNW_004955447:2,331,251...2,345,459
Ensembl chrNW_004955447:2,331,251...2,346,110 		JBrowse link
G R Enam enamelin ISO
ISS		 ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B
OMIM:104500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... RGD:1598908 NCBI chr14:19,840,773...19,865,476
Ensembl chr14:19,556,729...19,581,425 		JBrowse link
G M Enam enamelin ISO
IAGP		 ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B
CTD Direct Evidence: marker/mechanism
OMIM:104500		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... RGD:1598908 NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908 		JBrowse link
G H ENAM enamelin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
OMIM:104500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 More... RGD:1598908 NCBI chr 4:70,628,744...70,646,824
Ensembl chr 4:70,628,744...70,646,824 		JBrowse link
amelogenesis imperfecta type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chrNW_004624890:1,970,153...1,982,428
Ensembl chrNW_004624890:1,970,153...1,982,428 		JBrowse link
G G ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr 7:19,138,789...19,158,136
Ensembl chr 7:19,141,116...19,156,759 		JBrowse link
G P ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086 		JBrowse link
G S Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chrNW_004936598:4,118,031...4,132,342
Ensembl chrNW_004936598:4,118,579...4,132,692 		JBrowse link
G D ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949 		JBrowse link
G B ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr 4:53,574,316...53,592,465
Ensembl chr 4:59,920,000...59,938,884 		JBrowse link
G C Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chrNW_004955447:2,331,251...2,345,459
Ensembl chrNW_004955447:2,331,251...2,346,110 		JBrowse link
G R Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr14:19,840,773...19,865,476
Ensembl chr14:19,556,729...19,581,425 		JBrowse link
G M Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908 		JBrowse link
G H ENAM enamelin IAGP
EXP		 ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C		 OMIM
ClinVar
CTD		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr 4:70,628,744...70,646,824
Ensembl chr 4:70,628,744...70,646,824 		JBrowse link
G N Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004624878:277,569...320,093
Ensembl chrNW_004624878:277,558...320,093 		JBrowse link
G G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 1:93,946,136...93,997,656
Ensembl chr 1:93,947,582...93,996,815 		JBrowse link
G P MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047 		JBrowse link
G S Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004936551:5,310,426...5,352,883
Ensembl chrNW_004936551:5,310,426...5,352,883 		JBrowse link
G D MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 5:29,106,717...29,154,628
Ensembl chr 5:29,106,717...29,155,071 		JBrowse link
G B MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr11:97,518,573...97,566,881
Ensembl chr11:101,011,084...101,059,322 		JBrowse link
G C Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004955412:5,815,450...5,869,016
Ensembl chrNW_004955412:5,815,450...5,869,016 		JBrowse link
G R Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 8:13,074,279...13,114,894
Ensembl chr 8:4,789,415...4,830,035 		JBrowse link
G M Mmp20 matrix metallopeptidase 20 (enamelysin) ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980 		JBrowse link
G H MMP20 matrix metallopeptidase 20 IAGP ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332 		JBrowse link
G N Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chrNW_004624731:7,186,570...7,365,900
Ensembl chrNW_004624731:7,205,335...7,367,112 		JBrowse link
G G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754 		JBrowse link
G P WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286 		JBrowse link
G S Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415 		JBrowse link
G D WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874 		JBrowse link
G B WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853 		JBrowse link
G C Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chrNW_004955409:1,451,506...1,631,976
Ensembl chrNW_004955409:1,467,732...1,674,042 		JBrowse link
G R Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 8:83,718,897...83,902,128
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
G M Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		JBrowse link
G H WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878 		JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Amelx amelogenin X-linked ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chrNW_004624882:3,072,970...3,083,832
Ensembl chrNW_004624882:3,072,313...3,082,505 		JBrowse link
G G AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:9,927,740...9,934,104
Ensembl chr  X:9,741,594...9,745,776
Ensembl chr  X:9,741,594...9,745,776 		JBrowse link
G P AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:8,055,246...8,063,457
Ensembl chr  X:8,055,782...8,063,449 		JBrowse link
G S Amelx amelogenin X-linked ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chrNW_004936470:1,169,906...1,174,166
Ensembl chrNW_004936470:1,169,906...1,179,604 		JBrowse link
G D AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:7,822,513...7,828,692
Ensembl chr  X:7,822,859...7,830,351 		JBrowse link
G B AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... Ensembl chr  X:11,214,103...11,221,443 JBrowse link
G C Amelx amelogenin X-linked ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chrNW_004955544:1,974,889...1,979,063
Ensembl chrNW_004955544:1,969,216...1,979,063 		JBrowse link
G R Amelx amelogenin, X-linked ISO
ISS		 ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth
OMIM:301200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:28,648,803...28,660,099
Ensembl chr  X:25,076,362...25,087,660 		JBrowse link
G M Amelx amelogenin, X-linked ISO
IAGP		 ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth
CTD Direct Evidence: marker/mechanism
OMIM:301200		 OMIM
ClinVar
CTD
MouseDO		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:167,959,110...167,970,205
Ensembl chr  X:167,959,110...167,970,196 		JBrowse link
G H AMELX amelogenin X-linked IAGP
ISS
EXP		 ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E
ClinVar Annotator: match by term: AMELX-related condition
OMIM:301200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth		 ClinVar
MouseDO
CTD
OMIM		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:11,293,413...11,309,588
Ensembl chr  X:11,293,413...11,300,761 		JBrowse link
G B AMELY amelogenin Y-linked ISO OMIM:301200 MouseDO NCBI chr  X:3,898,819...3,930,686
Ensembl chr  X:11,214,103...11,221,443 		JBrowse link
G N Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chrNW_004624882:2,706,827...3,211,600
Ensembl chrNW_004624882:2,708,089...3,211,766 		JBrowse link
G G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More...
G P ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:7,910,851...8,441,579
Ensembl chr  X:7,910,858...8,120,386 		JBrowse link
G S Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chrNW_004936470:1,048,145...1,501,970
Ensembl chrNW_004936470:1,049,461...1,500,877 		JBrowse link
G D ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:7,704,838...8,188,358
Ensembl chr  X:7,706,156...7,951,557 		JBrowse link
G B ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:3,767,259...4,291,738
Ensembl chr  X:11,058,207...11,582,115 		JBrowse link
G C Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chrNW_004955544:1,619,742...2,095,314
Ensembl chrNW_004955544:1,620,838...2,095,220 		JBrowse link
G R Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:28,525,912...29,062,344
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
G M Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431 		JBrowse link
G H ARHGAP6 Rho GTPase activating protein 6 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E
ClinVar Annotator: match by term: AMELX-related condition
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth		 ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:11,137,544...11,665,920
Ensembl chr  X:11,117,651...11,665,920 		JBrowse link
G H LOC130067939 ATAC-STARR-seq lymphoblastoid silent region 20658 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:23251683 NCBI chr  X:11,363,160...11,363,249 JBrowse link
G H MIR548AX microRNA 548ax IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:23251683 NCBI chr  X:11,318,614...11,318,686
Ensembl chr  X:11,318,614...11,318,686 		JBrowse link
amelogenesis imperfecta type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ambn ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chrNW_004624890:1,943,471...1,954,948
Ensembl chrNW_004624890:1,942,559...1,954,490 		JBrowse link
G G AMBN ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr 7:19,107,182...19,121,992
Ensembl chr 7:19,107,299...19,122,285 		JBrowse link
G P AMBN ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr 8:67,381,137...67,394,394
Ensembl chr 8:67,381,137...67,394,394 		JBrowse link
G S Ambn ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chrNW_004936598:4,154,801...4,166,565
Ensembl chrNW_004936598:4,155,061...4,167,497 		JBrowse link
G D AMBN ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr13:59,899,968...59,912,699
Ensembl chr13:59,899,960...59,912,655 		JBrowse link
G B AMBN ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr 4:53,616,553...53,631,566
Ensembl chr 4:59,961,939...59,976,750 		JBrowse link
G C Ambn ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chrNW_004955447:2,363,240...2,374,827
Ensembl chrNW_004955447:2,363,240...2,374,827 		JBrowse link
G R Ambn ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr14:19,885,802...19,898,422
Ensembl chr14:19,601,702...19,614,393 		JBrowse link
G M Ambn ameloblastin ISO ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr 5:88,603,850...88,616,390
Ensembl chr 5:88,603,850...88,616,390 		JBrowse link
G H AMBN ameloblastin IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F
ClinVar Annotator: match by term: AMBN-related condition
ClinVar Annotator: match by term: AMBN-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F		 ClinVar
OMIM		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288 		JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Fam20a FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chrNW_004624870:3,576,995...3,632,964
Ensembl chrNW_004624870:3,577,386...3,632,967 		JBrowse link
G G FAM20A FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr16:52,955,411...53,017,263
Ensembl chr16:52,955,714...53,016,909 		JBrowse link
G P FAM20A FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr12:11,606,469...11,663,086
Ensembl chr12:11,607,034...11,657,737 		JBrowse link
G S Fam20a FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chrNW_004936541:7,867,856...7,916,145
Ensembl chrNW_004936541:7,867,303...7,916,154 		JBrowse link
G D FAM20A FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr 9:15,205,887...15,218,873
Ensembl chr 9:15,207,300...15,230,447 		JBrowse link
G B FAM20A FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr17:62,474,317...62,537,800
Ensembl chr17:67,864,331...67,927,128 		JBrowse link
G C Fam20a FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chrNW_004955478:4,182,568...4,236,819
Ensembl chrNW_004955478:4,182,568...4,236,819 		JBrowse link
G R Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr10:95,136,799...95,197,176
Ensembl chr10:94,642,850...94,697,672 		JBrowse link
G M Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr11:109,563,752...109,613,989
Ensembl chr11:109,560,575...109,613,105 		JBrowse link
G H FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction		 ClinVar
OMIM		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G N Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chrNW_004624870:3,552,608...3,575,461
Ensembl chrNW_004624870:3,552,745...3,574,880 		JBrowse link
G G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493 		JBrowse link
G P PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373 		JBrowse link
G S Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709 		JBrowse link
G D PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683 		JBrowse link
G B PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943 		JBrowse link
G C Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087 		JBrowse link
G R Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G M Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		JBrowse link
G H PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction		 ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
amelogenesis imperfecta type 1H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chrNW_004624732:5,348,589...5,499,826
Ensembl chrNW_004624732:5,403,956...5,499,855 		JBrowse link
G G ITGB6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr10:45,506,355...45,650,979
Ensembl chr10:45,504,987...45,595,543 		JBrowse link
G P ITGB6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234 		JBrowse link
G S Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chrNW_004936469:18,581,855...18,650,109
Ensembl chrNW_004936469:18,581,840...18,650,123 		JBrowse link
G D ITGB6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr36:5,833,206...5,962,699
Ensembl chr36:5,834,638...5,962,633 		JBrowse link
G B ITGB6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr2B:47,386,913...47,496,491
Ensembl chr2B:164,764,251...164,867,426 		JBrowse link
G C Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chrNW_004955449:13,387,013...13,520,879
Ensembl chrNW_004955449:13,448,084...13,520,879 		JBrowse link
G R Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr 3:65,454,964...65,579,179
Ensembl chr 3:45,048,044...45,121,671 		JBrowse link
G M Itgb6 integrin beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr 2:60,428,636...60,553,005
Ensembl chr 2:60,428,636...60,552,987 		JBrowse link
G H ITGB6 integrin subunit beta 6 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H
ClinVar Annotator: match by term: ITGB6-related condition
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition		 OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
amelogenesis imperfecta type 1J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chrNW_004624832:3,896,782...3,901,312
Ensembl chrNW_004624832:3,897,819...3,901,293 		JBrowse link
G G ACP4 acid phosphatase 4 ISO ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chr 6:43,838,103...43,843,715
Ensembl chr 6:43,838,321...43,843,654 		JBrowse link
G P ACP4 acid phosphatase 4 ISO ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chr 6:55,535,406...55,541,929
Ensembl chr 6:55,536,904...55,541,968 		JBrowse link
G S Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chrNW_004936889:510,667...515,831
Ensembl chrNW_004936889:510,667...515,075 		JBrowse link
G D ACP4 acid phosphatase 4 ISO ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chr 1:106,051,901...106,056,137
Ensembl chr 1:106,051,901...106,056,137 		JBrowse link
G B ACP4 acid phosphatase 4 ISO ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chr19:47,754,780...47,760,294
Ensembl chr19:56,649,018...56,653,909 		JBrowse link
G C Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chrNW_004955559:481,953...488,464
Ensembl chrNW_004955559:483,071...486,592 		JBrowse link
G R Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chr 1:103,872,922...103,888,418
Ensembl chr 1:94,735,514...94,744,623 		JBrowse link
G M Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chr 7:43,901,427...43,910,814
Ensembl chr 7:43,901,572...43,906,802 		JBrowse link
G H ACP4 acid phosphatase 4 IAGP ClinVar Annotator: match by term: ACP4-related condition
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J		 OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28492532 PMID:28513613 NCBI chr19:50,790,415...50,795,219
Ensembl chr19:50,790,415...50,795,219 		JBrowse link
G H LOC130065006 ATAC-STARR-seq lymphoblastoid silent region 10977 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J ClinVar PMID:25741868 NCBI chr19:50,795,035...50,795,094 JBrowse link
amelogenesis imperfecta type 1K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Sp6 Sp6 transcription factor ISO OMIM NCBI chrNW_004624795:4,499,022...4,504,565
Ensembl chrNW_004624795:4,501,141...4,502,280 		JBrowse link
G G SP6 Sp6 transcription factor ISO OMIM NCBI chr16:68,243,319...68,276,951
Ensembl chr16:68,247,695...68,248,825 		JBrowse link
G P SP6 Sp6 transcription factor ISO OMIM NCBI chr12:24,100,769...24,106,828
Ensembl chr12:24,100,801...24,106,792 		JBrowse link
G S Sp6 Sp6 transcription factor ISO OMIM NCBI chrNW_004936490:13,456,393...13,466,813
Ensembl chrNW_004936490:13,456,393...13,465,684 		JBrowse link
G D SP6 Sp6 transcription factor ISO OMIM NCBI chr 9:24,175,979...24,183,245
Ensembl chr 9:24,178,438...24,179,568 		JBrowse link
G B SP6 Sp6 transcription factor ISO OMIM NCBI chr17:9,673,572...9,692,382
Ensembl chr17:9,871,175...9,872,305 		JBrowse link
G C Sp6 Sp6 transcription factor ISO OMIM NCBI chrNW_004955451:13,264,537...13,270,104
Ensembl chrNW_004955451:13,264,756...13,270,104 		JBrowse link
G R Sp6 Sp6 transcription factor ISO OMIM NCBI chr10:82,501,957...82,506,138
Ensembl chr10:82,005,294...82,011,013 		JBrowse link
G M Sp6 trans-acting transcription factor 6 ISO OMIM NCBI chr11:96,904,395...96,915,565
Ensembl chr11:96,904,220...96,915,560 		JBrowse link
G H SP6 Sp6 transcription factor IAGP OMIM NCBI chr17:47,844,908...47,876,311
Ensembl chr17:47,844,908...47,855,874 		JBrowse link
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Klk4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition OMIM
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chrNW_004624832:3,828,676...3,832,025
Ensembl chrNW_004624832:3,828,679...3,831,767 		JBrowse link
G G KLK4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition OMIM
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr 6:43,921,920...43,935,224
Ensembl chr 6:43,922,052...43,934,253 		JBrowse link
G P KLK4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition OMIM
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294 		JBrowse link
G S Klk4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition OMIM
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chrNW_004936889:583,259...586,412
Ensembl chrNW_004936889:583,302...586,412 		JBrowse link
G D KLK4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition OMIM
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr 1:105,950,948...105,955,464
Ensembl chr 1:105,951,691...106,007,581 		JBrowse link
G B KLK4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition OMIM
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr19:47,849,158...47,876,522
Ensembl chr19:56,764,073...56,768,169 		JBrowse link
G R Klk4 kallikrein-related peptidase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition		 OMIM
CTD
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr 1:94,344,195...94,349,425
Ensembl chr 1:94,344,195...94,349,424 		JBrowse link
G M Klk4 kallikrein related-peptidase 4 (prostase, enamel matrix, prostate) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition		 OMIM
CTD
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr 7:43,530,584...43,535,228
Ensembl chr 7:43,530,584...43,535,228 		JBrowse link
G H KLK4 kallikrein related peptidase 4 IAGP
EXP		 ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1
ClinVar Annotator: match by term: KLK4-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr19:50,906,351...50,911,395
Ensembl chr19:50,906,351...50,911,395 		JBrowse link
amelogenesis imperfecta type 2A6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chrNW_004624734:11,338,233...11,370,239
Ensembl chrNW_004624734:11,360,053...11,368,757 		JBrowse link
G G GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr24:68,998,721...69,027,237
Ensembl chr24:68,998,805...68,999,902 		JBrowse link
G P GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,904,246 		JBrowse link
G S Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chrNW_004936488:18,257,765...18,278,530
Ensembl chrNW_004936488:18,259,866...18,260,993 		JBrowse link
G D GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr 8:62,090,050...62,108,922
Ensembl chr 8:62,092,135...62,093,217 		JBrowse link
G B GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr14:71,859,025...71,891,126
Ensembl chr14:91,207,679...91,208,806 		JBrowse link
G C Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chrNW_004955438:13,553,770...13,575,093
Ensembl chrNW_004955438:13,555,379...13,559,465 		JBrowse link
G R Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr 6:125,865,205...125,895,674
Ensembl chr 6:120,135,436...120,166,089 		JBrowse link
G M Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457 		JBrowse link
G H GPR68 G protein-coupled receptor 68 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr14:91,232,532...91,270,790
Ensembl chr14:91,232,532...91,253,925 		JBrowse link
amelogenesis imperfecta type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chrNW_004624735:13,035,896...13,048,658
Ensembl chrNW_004624735:13,042,060...13,048,658 		JBrowse link
G G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394 		JBrowse link
G P FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517 		JBrowse link
G S Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chrNW_004936470:8,413,055...8,418,360
Ensembl chrNW_004936470:8,406,912...8,418,895 		JBrowse link
G D FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834 		JBrowse link
G B FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chr 8:140,476,051...140,492,613
Ensembl chr 8:143,491,945...143,496,919 		JBrowse link
G C Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chrNW_004955454:2,421,393...2,436,012
Ensembl chrNW_004955454:2,422,237...2,427,194 		JBrowse link
G R Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chr 7:109,597,129...109,605,317
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G M Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		JBrowse link
G H FAM83H family with sequence similarity 83 member H IAGP ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta ClinVar PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More... NCBI chr 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234 		JBrowse link
amelogenesis imperfecta type 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chrNW_004624735:13,035,896...13,048,658
Ensembl chrNW_004624735:13,042,060...13,048,658 		JBrowse link
G G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394 		JBrowse link
G P FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517 		JBrowse link
G S Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chrNW_004936470:8,413,055...8,418,360
Ensembl chrNW_004936470:8,406,912...8,418,895 		JBrowse link
G D FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834 		JBrowse link
G B FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr 8:140,476,051...140,492,613
Ensembl chr 8:143,491,945...143,496,919 		JBrowse link
G C Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chrNW_004955454:2,421,393...2,436,012
Ensembl chrNW_004955454:2,422,237...2,427,194 		JBrowse link
G R Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition		 OMIM
CTD
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr 7:109,597,129...109,605,317
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G M Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition		 OMIM
CTD
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		JBrowse link
G H FAM83H family with sequence similarity 83 member H IAGP
EXP		 ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: FAM83H-related condition
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A		 ClinVar
CTD
OMIM		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234 		JBrowse link
amelogenesis imperfecta type 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Amtn amelotin ISO ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004624890:1,875,456...1,936,427 JBrowse link
G G AMTN amelotin ISO ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 7:18,982,101...19,041,207 JBrowse link
G P AMTN amelotin ISO ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:67,312,108...67,327,775
Ensembl chr 8:67,312,972...67,326,730 		JBrowse link
G S Amtn amelotin ISO ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004936598:4,204,094...4,210,492
Ensembl chrNW_004936598:4,203,255...4,215,567 		JBrowse link
G D AMTN amelotin ISO ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr13:59,855,278...59,867,133
Ensembl chr13:59,852,490...59,867,516 		JBrowse link
G B AMTN amelotin ISO ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 4:53,691,674...53,705,831
Ensembl chr 4:60,036,818...60,050,965 		JBrowse link
G C Amtn amelotin ISO ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004955447:2,422,189...2,433,633
Ensembl chrNW_004955447:2,423,136...2,433,150 		JBrowse link
G R Amtn amelotin ISO ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181 		JBrowse link
G M Amtn amelotin ISO ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:88,523,967...88,533,775
Ensembl chr 5:88,523,967...88,533,775 		JBrowse link
G H AMTN amelotin IAGP ClinVar Annotator: match by term: AMTN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 4:70,518,569...70,532,743
Ensembl chr 4:70,518,569...70,532,743 		JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Relt RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition OMIM
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chrNW_004624817:3,555,676...3,575,873
Ensembl chrNW_004624817:3,557,002...3,575,933 		JBrowse link
G G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition OMIM
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 1:64,620,843...64,641,180
Ensembl chr 1:64,633,421...64,640,019 		JBrowse link
G P RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition OMIM
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 9:7,833,387...7,852,469
Ensembl chr 9:7,833,419...7,854,496 		JBrowse link
G S Relt RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition OMIM
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chrNW_004936498:2,577,389...2,596,690
Ensembl chrNW_004936498:2,589,291...2,595,207 		JBrowse link
G D RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition OMIM
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr21:24,835,792...24,854,739
Ensembl chr21:24,836,858...24,854,023 		JBrowse link
G B RELT RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition OMIM
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr11:68,453,109...68,474,262
Ensembl chr11:71,673,955...71,695,103 		JBrowse link
G C Relt RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition OMIM
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chrNW_004955414:18,074,487...18,104,972
Ensembl chrNW_004955414:18,075,448...18,093,548 		JBrowse link
G R Relt RELT, TNF receptor ISO
ISS		 OMIM:618386
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition		 OMIM
MouseDO
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196 		JBrowse link
G M Relt RELT tumor necrosis factor receptor ISO
IAGP		 ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition
OMIM:618386		 OMIM
ClinVar
MouseDO		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653 		JBrowse link
G H RELT RELT TNF receptor IAGP
ISS		 ClinVar Annotator: match by term: RELT-related condition
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C
OMIM:618386		 OMIM
ClinVar
MouseDO		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr11:73,376,399...73,397,474
Ensembl chr11:73,376,399...73,397,474 		JBrowse link
amelogenesis imperfecta type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition OMIM
ClinVar		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chrNW_004624795:6,014,044...6,018,819
Ensembl chrNW_004624795:6,015,523...6,018,684 		JBrowse link
G G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition OMIM
ClinVar		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095 		JBrowse link
G P DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition OMIM
ClinVar		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157 		JBrowse link
G S Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition OMIM
ClinVar		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chrNW_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131 		JBrowse link
G D DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition OMIM
ClinVar		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736 		JBrowse link
G B DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition OMIM
ClinVar		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848 		JBrowse link
G C Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition OMIM
ClinVar		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chrNW_004955451:11,635,027...11,640,091
Ensembl chrNW_004955451:11,635,025...11,640,094 		JBrowse link
G R Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr10:80,561,335...80,566,730
Ensembl chr10:80,064,489...80,069,872 		JBrowse link
G M Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G H DLX3 distal-less homeobox 3 IAGP
EXP		 ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224 		JBrowse link
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC121832793 Sharpr-MPRA regulatory region 4001 IAGP ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature ClinVar PMID:9536098 PMID:11790802 PMID:17576681 PMID:19344874 PMID:25669657 More... NCBI chr11:65,540,119...65,540,912 JBrowse link
G H LOC130006027 ATAC-STARR-seq lymphoblastoid silent region 3530 IAGP ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:9536098 PMID:11790802 PMID:17576681 PMID:19344874 PMID:25669657 More... NCBI chr11:65,539,869...65,540,068 JBrowse link
G H LOC130006028 ATAC-STARR-seq lymphoblastoid active region 4987 IAGP ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature ClinVar PMID:28492532 NCBI chr11:65,541,129...65,541,178 JBrowse link
G H LOC130006029 ATAC-STARR-seq lymphoblastoid silent region 3532 IAGP ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature		 ClinVar PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19344874 More... NCBI chr11:65,546,311...65,546,580 JBrowse link
G H LOC130006030 ATAC-STARR-seq lymphoblastoid silent region 3533 IAGP ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:9536098 PMID:11790802 PMID:17576681 PMID:19213025 PMID:19344874 More... NCBI chr11:65,546,591...65,546,890 JBrowse link
G H LOC130006032 ATAC-STARR-seq lymphoblastoid silent region 3535 IAGP ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:11790802 PMID:19344874 PMID:25669657 PMID:25741868 PMID:28492532 More... NCBI chr11:65,547,591...65,547,770 JBrowse link
G N Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chrNW_004624767:20,845,949...20,861,169
Ensembl chrNW_004624767:20,845,949...20,860,673 		JBrowse link
G G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740 		JBrowse link
G P LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153 		JBrowse link
G S Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471 		JBrowse link
G D LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433 		JBrowse link
G B LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802 		JBrowse link
G C Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855 		JBrowse link
G R Ltbp3 latent transforming growth factor beta binding protein 3 ISO
ISS		 ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6
OMIM:601216
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G M Ltbp3 latent transforming growth factor beta binding protein 3 ISO
IAGP		 ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6
CTD Direct Evidence: marker/mechanism
OMIM:601216		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G H LTBP3 latent transforming growth factor beta binding protein 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Tooth agenesis, selective, 6
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6
OMIM:601216
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G N Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624767:20,861,037...20,872,127
Ensembl chrNW_004624767:20,861,039...20,872,090 		JBrowse link
G G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:8,700,828...8,714,571
Ensembl chr 1:8,700,973...8,714,763 		JBrowse link
G P SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438 		JBrowse link
G S Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936599:3,918,325...3,928,415
Ensembl chrNW_004936599:3,918,469...3,928,421 		JBrowse link
G D SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090 		JBrowse link
G B SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413 		JBrowse link
G C Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:19,730,224...19,742,348
Ensembl chrNW_004955422:19,730,224...19,742,348 		JBrowse link
G R Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:212,475,198...212,489,285
Ensembl chr 1:203,045,741...203,059,533 		JBrowse link
G M Scyl1 SCY1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447 		JBrowse link
G H SCYL1 SCY1 like pseudokinase 1 IAGP ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chrNW_004624802:10,734,907...10,812,888
Ensembl chrNW_004624802:10,734,263...10,812,763 		JBrowse link
G G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr11:53,039,147...53,125,041
Ensembl chr11:53,039,364...53,125,776 		JBrowse link
G P LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr 5:22,435,636...22,519,276 JBrowse link
G S Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chrNW_004936646:1,326,900...1,407,236
Ensembl chrNW_004936646:1,327,374...1,406,456 		JBrowse link
G D LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271 		JBrowse link
G B LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979 		JBrowse link
G C Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chrNW_004955458:4,861,431...4,941,939
Ensembl chrNW_004955458:4,861,431...4,941,146 		JBrowse link
G R Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G M Lrp1 low density lipoprotein receptor-related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
G H LRP1 LDL receptor related protein 1 IAGP ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361 		JBrowse link
Cone Rod Dystrophy Amelogenesis Imperfecta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624749:2,666,884...2,701,693
Ensembl chrNW_004624749:2,666,927...2,701,642 		JBrowse link
G G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr14:1,095,514...1,137,937
Ensembl chr14:1,095,719...1,135,572 		JBrowse link
G P CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:56,814,823...56,858,460
Ensembl chr 3:56,814,832...56,858,453 		JBrowse link
G S Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835 		JBrowse link
G D CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr10:45,157,418...45,197,323
Ensembl chr10:45,138,538...45,197,244 		JBrowse link
G B CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:102,503,084...102,553,029
Ensembl chr2A:97,682,724...97,731,584 		JBrowse link
G C Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955470:4,131,348...4,177,172
Ensembl chrNW_004955470:4,131,348...4,177,172 		JBrowse link
G R Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:46,207,602...46,246,817
Ensembl chr 9:38,711,710...38,750,942 		JBrowse link
G M Cnnm4 cyclin M4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		JBrowse link
G H CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874 		JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004624809:724,032...746,944
Ensembl chrNW_004624809:735,399...746,723 		JBrowse link
G G GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr21:56,564,766...56,574,634
Ensembl chr21:56,565,360...56,574,161 		JBrowse link
G P GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 9:72,360,321...72,370,064
Ensembl chr 9:72,360,483...72,368,607 		JBrowse link
G S Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004936803:1,348,238...1,361,566 JBrowse link
G D GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr14:18,043,857...18,054,340
Ensembl chr14:18,043,671...18,052,979 		JBrowse link
G B GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 7:84,445,039...84,456,781 JBrowse link
G C Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004955432:9,389,020...9,398,791 JBrowse link
G R Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 4:31,462,251...31,473,827
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G M Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 5:3,689,961...3,697,936
Ensembl chr 5:3,682,932...3,707,185 		JBrowse link
G H GATAD1 GATA zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C		 ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 7:92,447,482...92,495,769
Ensembl chr 7:92,447,482...92,460,075 		JBrowse link
G H LOC129998796 ATAC-STARR-seq lymphoblastoid silent region 18372 IAGP ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
ClinVar Annotator: match by term: Heimler syndrome 1		 ClinVar PMID:9398847 PMID:16086329 PMID:16141001 PMID:21031596 PMID:25741868 More... NCBI chr 7:92,528,349...92,528,578 JBrowse link
G N Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chrNW_004624809:668,248...713,036
Ensembl chrNW_004624809:668,345...712,743 		JBrowse link
G G PEX1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr21:56,493,424...56,535,565
Ensembl chr21:56,493,435...56,535,154 		JBrowse link
G P PEX1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr 9:72,385,755...72,444,718
Ensembl chr 9:72,385,475...72,444,582 		JBrowse link
G S Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G D PEX1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr14:18,073,759...18,144,489
Ensembl chr14:18,073,758...18,143,152 		JBrowse link
G B PEX1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335 		JBrowse link
G C Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chrNW_004955432:9,418,480...9,461,507
Ensembl chrNW_004955432:9,418,678...9,461,419 		JBrowse link
G R Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr 4:31,474,670...31,513,621
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G M Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr 5:3,646,066...3,687,230
Ensembl chr 5:3,646,066...3,687,232 		JBrowse link
G H PEX1 peroxisomal biogenesis factor 1 IAGP
EXP		 ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G N Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624735:9,248,065...9,262,975
Ensembl chrNW_004624735:9,251,046...9,263,199 		JBrowse link
G P PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503 		JBrowse link
G S Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		JBrowse link
G D PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr27:45,675,537...45,688,026
Ensembl chr27:45,675,472...45,725,681 		JBrowse link
G B PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr22:1,507,601...1,535,859
Ensembl chr22:16,936,405...16,989,730 		JBrowse link
G C Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955454:6,097,251...6,115,430 JBrowse link
G R Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 4:156,085,967...156,099,096
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G M Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 6:121,160,176...121,175,796
Ensembl chr 6:121,160,626...121,175,796 		JBrowse link
G H PEX26 peroxisomal biogenesis factor 26 IAGP ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G N Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624754:16,510,980...16,534,695
Ensembl chrNW_004624754:16,510,795...16,527,859 		JBrowse link
G G PEX6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:29,180,427...29,198,747
Ensembl chr17:29,180,460...29,200,398 		JBrowse link
G P PEX6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369 		JBrowse link
G S Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		JBrowse link
G D PEX6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929 		JBrowse link
G B PEX6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:42,554,509...42,570,701
Ensembl chr 6:43,850,129...43,865,355 		JBrowse link
G C Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955437:8,945,842...8,964,870
Ensembl chrNW_004955437:8,947,002...8,960,371 		JBrowse link
G R Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G M Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467 		JBrowse link
G H PEX6 peroxisomal biogenesis factor 6 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
Jalili syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chrNW_004624749:2,666,884...2,701,693
Ensembl chrNW_004624749:2,666,927...2,701,642 		JBrowse link
G G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr14:1,095,514...1,137,937
Ensembl chr14:1,095,719...1,135,572 		JBrowse link
G P CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 3:56,814,823...56,858,460
Ensembl chr 3:56,814,832...56,858,453 		JBrowse link
G S Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835 		JBrowse link
G D CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr10:45,157,418...45,197,323
Ensembl chr10:45,138,538...45,197,244 		JBrowse link
G B CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr2A:102,503,084...102,553,029
Ensembl chr2A:97,682,724...97,731,584 		JBrowse link
G C Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chrNW_004955470:4,131,348...4,177,172
Ensembl chrNW_004955470:4,131,348...4,177,172 		JBrowse link
G R Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 9:46,207,602...46,246,817
Ensembl chr 9:38,711,710...38,750,942 		JBrowse link
G M Cnnm4 cyclin M4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		JBrowse link
G H CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP ClinVar Annotator: match by term: Jalili syndrome
ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome		 OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874 		JBrowse link
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M 4930562C15Rik RIKEN cDNA 4930562C15 gene ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,653,280...4,685,555
Ensembl chr16:4,653,280...4,685,550 		JBrowse link
G N Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,777,141...1,902,324
Ensembl chrNW_004624824:1,777,141...1,939,071 		JBrowse link
G G ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:3,641,359...3,796,697
Ensembl chr 5:3,641,349...3,796,198 		JBrowse link
G P ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:38,117,211...38,303,600
Ensembl chr 3:38,103,923...38,303,538 		JBrowse link
G S Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:336,269...449,490
Ensembl chrNW_004936694:336,269...452,943 		JBrowse link
G D ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,213,251...37,334,820
Ensembl chr 6:37,213,227...37,331,563 		JBrowse link
G B ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:2,882,687...3,034,275
Ensembl chr16:4,059,736...4,207,430 		JBrowse link
G C Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,310,289...13,433,816
Ensembl chrNW_004955442:13,310,289...13,434,971 		JBrowse link
G R Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,645,373...11,768,462
Ensembl chr10:11,139,446...11,262,066 		JBrowse link
G M Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,102,750...4,255,094
Ensembl chr16:4,105,393...4,238,362 		JBrowse link
G H ADCY9 adenylate cyclase 9 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,953,387...4,116,442
Ensembl chr16:3,953,387...4,116,442 		JBrowse link
G N Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,478,608...2,507,287
Ensembl chrNW_004624824:2,478,608...2,505,257 		JBrowse link
G G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,378,318...4,413,266
Ensembl chr 5:4,375,517...4,413,199 		JBrowse link
G P ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,664,182...37,689,502
Ensembl chr 3:37,650,256...37,689,500 		JBrowse link
G S Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,698,234...4,723,131
Ensembl chrNW_004936530:4,695,401...4,722,924 		JBrowse link
G D ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,678,916...36,711,096
Ensembl chr 6:36,669,590...36,710,807 		JBrowse link
G B ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,621,185...3,659,570
Ensembl chr16:4,788,093...4,820,760 		JBrowse link
G C Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,752,468...12,775,081
Ensembl chrNW_004955442:12,752,008...12,775,081 		JBrowse link
G R Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,121,504...11,142,261
Ensembl chr10:10,615,047...10,635,806 		JBrowse link
G M Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,759,290...4,783,362
Ensembl chr16:4,759,300...4,782,069 		JBrowse link
G H ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,696,511...4,734,271
Ensembl chr16:4,696,510...4,734,378 		JBrowse link
G R C10h16orf96 similar to human chromosome 16 open reading frame 96 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,213,789...11,257,180 JBrowse link
G H C16orf96 chromosome 16 open reading frame 96 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,538,601...4,600,758
Ensembl chr16:4,556,340...4,600,758 		JBrowse link
G B C18H16orf96 chromosome 18 C16orf96 homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,482,575...3,526,672
Ensembl chr16:4,650,245...4,693,964 		JBrowse link
G P C3H16orf96 chromosome 3 C16orf96 homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,765,914...37,801,366 JBrowse link
G D C6H16orf96 chromosome 6 C16orf96 homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,793,546...36,838,116
Ensembl chr 6:36,795,470...36,837,972 		JBrowse link
G N Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,317,562...2,338,983 JBrowse link
G G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,201,578...4,230,583
Ensembl chr 5:4,199,922...4,230,533 		JBrowse link
G P CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,815,259...37,839,266
Ensembl chr 3:37,815,710...37,839,009 		JBrowse link
G S Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,559,062...4,578,896
Ensembl chrNW_004936530:4,556,566...4,562,503 		JBrowse link
G D CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,854,124...36,880,231
Ensembl chr 6:36,854,141...36,880,230 		JBrowse link
G B CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,437,414...3,464,989
Ensembl chr16:4,604,954...4,632,724 		JBrowse link
G C Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,895,403...12,913,517
Ensembl chrNW_004955442:12,895,702...12,913,517 		JBrowse link
G R Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,278,213...11,303,415
Ensembl chr10:10,774,705...10,796,980 		JBrowse link
G M Cdip1 cell death inducing Trp53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,583,325...4,608,156
Ensembl chr16:4,568,212...4,608,156 		JBrowse link
G H CDIP1 cell death inducing p53 target 1 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,510,669...4,538,773
Ensembl chr16:4,510,669...4,538,828 		JBrowse link
G S Coro7 coronin 7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:96,107...152,075
Ensembl chrNW_004936694:96,110...152,133 		JBrowse link
G B CORO7 coronin 7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,281,481...3,342,937
Ensembl chr16:4,418,006...4,515,038 		JBrowse link
G C Coro7 coronin 7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,010,032...13,084,897
Ensembl chrNW_004955442:13,009,977...13,084,355 		JBrowse link
G R Coro7 coronin 7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,386,683...11,447,422
Ensembl chr10:10,885,196...10,941,001 		JBrowse link
G M Coro7 coronin 7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,444,748...4,497,584
Ensembl chr16:4,443,997...4,497,641 		JBrowse link
G H CORO7 coronin 7 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,354,542...4,416,596
Ensembl chr16:4,354,542...4,425,705 		JBrowse link
G H CORO7-PAM16 CORO7-PAM16 readthrough IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,340,251...4,416,596
Ensembl chr16:4,340,251...4,420,494 		JBrowse link
G N Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G P CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224 		JBrowse link
G S Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617 		JBrowse link
G D CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G B CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		JBrowse link
G C Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004 		JBrowse link
G R Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G M Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G H CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G N CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,354,149...2,399,147 JBrowse link
G G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,245,799...4,286,742 JBrowse link
G S CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,599,136...4,637,123 JBrowse link
G C CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,834,662...12,879,308
Ensembl chrNW_004955442:12,839,570...12,879,144 		JBrowse link
G N Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,507,454...2,518,610 JBrowse link
G G DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,413,292...4,427,925 JBrowse link
G P DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,652,535...37,665,497
Ensembl chr 3:37,652,539...37,665,474 		JBrowse link
G S Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,725,294...4,738,515
Ensembl chrNW_004936530:4,725,279...4,738,554 		JBrowse link
G D DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,665,193...36,678,860
Ensembl chr 6:36,665,455...36,678,680 		JBrowse link
G B DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,659,525...3,674,557
Ensembl chr16:4,825,030...4,840,117 		JBrowse link
G C Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,738,888...12,752,306 JBrowse link
G R Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,107,988...11,121,475
Ensembl chr10:10,600,734...10,614,891 		JBrowse link
G M Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,782,152...4,796,827
Ensembl chr16:4,782,090...4,796,826
Ensembl chr16:4,782,090...4,796,826 		JBrowse link
G H DNAAF8 dynein axonemal assembly factor 8 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,734,537...4,749,396
Ensembl chr16:4,734,344...4,749,396 		JBrowse link
G N Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,215,337...2,259,696
Ensembl chrNW_004624824:2,214,240...2,259,696 		JBrowse link
G G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,109,612...4,139,789 JBrowse link
G P DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,883,233...37,919,141
Ensembl chr 3:37,883,244...37,919,324 		JBrowse link
G S Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:43,898...74,939
Ensembl chrNW_004936694:44,635...74,958 		JBrowse link
G D DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,921,941...36,967,718
Ensembl chr 6:36,917,858...36,967,689 		JBrowse link
G B DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,351,825...3,381,914
Ensembl chr16:4,519,965...4,550,786 		JBrowse link
G C Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,971,031...13,002,605
Ensembl chrNW_004955442:12,967,438...13,010,943 		JBrowse link
G R Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,361,168...11,386,599
Ensembl chr10:10,854,732...10,880,161 		JBrowse link
G M Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,501,934...4,525,559
Ensembl chr16:4,457,853...4,525,559 		JBrowse link
G H DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,425,868...4,456,775
Ensembl chr16:4,425,805...4,456,775 		JBrowse link
G N Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,106,261...2,127,740
Ensembl chrNW_004624824:2,098,384...2,127,733 		JBrowse link
G G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:3,996,333...4,019,499
Ensembl chr 5:3,996,372...4,019,542 		JBrowse link
G P GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,998,072...38,018,726
Ensembl chr 3:37,998,078...38,009,024 		JBrowse link
G S Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:161,419...168,012
Ensembl chrNW_004936694:163,501...167,659 		JBrowse link
G D GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,048,380...37,069,740
Ensembl chr 6:37,048,367...37,088,880 		JBrowse link
G B GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,234,549...3,257,994
Ensembl chr16:4,418,524...4,425,631 		JBrowse link
G C Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,097,636...13,113,514
Ensembl chrNW_004955442:13,097,636...13,105,210 		JBrowse link
G R Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,457,594...11,484,948
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
G M Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,412,217...4,443,076
Ensembl chr16:4,412,577...4,442,788 		JBrowse link
G H GLIS2 GLIS family zinc finger 2 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,314,761...4,339,595
Ensembl chr16:4,314,761...4,339,597 		JBrowse link
G N Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,272,515...2,317,115 JBrowse link
G G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,157,402...4,201,223 JBrowse link
G P HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,829,044...37,868,163
Ensembl chr 3:37,831,439...37,868,128 		JBrowse link
G S Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,556,617...4,558,250
Ensembl chrNW_004936530:4,556,706...4,557,663 		JBrowse link
G D HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,881,073...36,898,062
Ensembl chr 6:36,881,506...36,898,042 		JBrowse link
G B HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,399,715...3,436,018
Ensembl chr16:4,567,828...4,604,596 		JBrowse link
G C Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,913,983...12,947,412
Ensembl chrNW_004955442:12,913,983...12,920,152 		JBrowse link
G R Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,303,512...11,337,640
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G M Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,544,225...4,584,606
Ensembl chr16:4,544,225...4,584,606 		JBrowse link
G H HMOX2 heme oxygenase 2 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,474,736...4,510,347
Ensembl chr16:4,474,690...4,510,347 		JBrowse link
G P LOC100513346 mitochondrial import inner membrane translocase subunit TIM16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,928,098...38,005,619
Ensembl chr 3:37,928,096...37,985,151 		JBrowse link
G D LOC102152446 coronin-7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,980,302...37,038,210 JBrowse link
G G LOC103227636 coronin-7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,034,282...4,098,554
Ensembl chr 5:4,020,116...4,098,328 		JBrowse link
G N Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,419,973...2,473,580
Ensembl chrNW_004624824:2,420,203...2,470,627 		JBrowse link
G G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,310,924...4,372,896
Ensembl chr 5:4,310,970...4,375,423 		JBrowse link
G P MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,694,798...37,748,106
Ensembl chr 3:37,694,808...37,748,067 		JBrowse link
G S Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,647,550...4,693,143
Ensembl chrNW_004936530:4,652,464...4,693,999 		JBrowse link
G D MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,716,071...36,775,893
Ensembl chr 6:36,716,343...36,769,417 		JBrowse link
G B MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,550,352...3,615,693
Ensembl chr16:4,740,763...4,782,638 		JBrowse link
G C Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,780,795...12,823,716
Ensembl chrNW_004955442:12,781,539...12,824,222 		JBrowse link
G R Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,142,626...11,194,773
Ensembl chr10:10,638,880...10,688,315 		JBrowse link
G M Mgrn1 mahogunin, ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,703,964...4,756,160
Ensembl chr16:4,704,113...4,756,160 		JBrowse link
G H MGRN1 mahogunin ring finger 1 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,624,826...4,690,972
Ensembl chr16:4,616,493...4,690,974 		JBrowse link
G N Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,243,184...2,272,379
Ensembl chrNW_004624824:2,262,961...2,272,376 		JBrowse link
G G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,142,965...4,164,217
Ensembl chr 5:4,143,051...4,163,391 		JBrowse link
G P NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,871,868...37,879,373
Ensembl chr 3:37,871,995...37,881,113 		JBrowse link
G S Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:33,738...40,716
Ensembl chrNW_004936694:35,903...44,926 		JBrowse link
G D NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,918,303...36,927,581
Ensembl chr 6:36,916,787...36,927,578 		JBrowse link
G B NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,386,842...3,399,729 JBrowse link
G C Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,960,559...12,967,186
Ensembl chrNW_004955442:12,959,931...12,967,282 		JBrowse link
G R Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,348,080...11,356,621
Ensembl chr10:10,841,799...10,850,192 		JBrowse link
G M Nmral1 NmrA-like family domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,529,181...4,537,220
Ensembl chr16:4,527,923...4,537,220 		JBrowse link
G H NMRAL1 NmrA like redox sensor 1 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,461,694...4,476,337
Ensembl chr16:4,461,691...4,495,763 		JBrowse link
G N Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,476,144...2,478,650 JBrowse link
G G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,372,989...4,377,679
Ensembl chr 5:4,375,517...4,377,032 		JBrowse link
G P NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,684,206...37,694,653
Ensembl chr 3:37,684,207...37,693,652 		JBrowse link
G D NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,711,351...36,713,931
Ensembl chr 6:36,711,671...36,713,896
Ensembl chr 6:36,711,671...36,713,896 		JBrowse link
G B NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,615,841...3,620,526
Ensembl chr16:4,785,358...4,786,775 		JBrowse link
G C Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,761,962...12,777,549
Ensembl chrNW_004955442:12,775,630...12,777,549 		JBrowse link
G R Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,142,626...11,144,542
Ensembl chr10:10,636,174...10,688,370 		JBrowse link
G M Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,756,975...4,758,892
Ensembl chr16:4,756,625...4,758,896 		JBrowse link
G H NUDT16L1 nudix hydrolase 16 like 1 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,693,562...4,695,859
Ensembl chr16:4,693,562...4,695,859 		JBrowse link
G N Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624746:18,235,774...18,237,603 JBrowse link
G G PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,020,116...4,031,233 JBrowse link
G S Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:153,958...161,635
Ensembl chrNW_004936694:153,959...161,635 		JBrowse link
G D PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,040,484...37,047,708 JBrowse link
G B PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,243,435...3,248,815
Ensembl chr16:4,418,006...4,515,038 		JBrowse link
G C Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,087,082...13,097,048
Ensembl chrNW_004955442:13,087,092...13,097,048 		JBrowse link
G R Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,449,316...11,457,071
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
G M Pam16 presequence translocase-asssociated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,434,330...4,442,810
Ensembl chr16:4,434,328...4,442,852 		JBrowse link
G H PAM16 presequence translocase associated motor 16 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G N Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome OMIM
ClinVar		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chrNW_004624824:2,649,694...2,655,728
Ensembl chrNW_004624824:2,650,116...2,655,716 		JBrowse link
G G ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome OMIM
ClinVar		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr 5:4,466,954...4,472,967
Ensembl chr 5:4,466,824...4,472,780 		JBrowse link
G P ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome OMIM
ClinVar		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr 3:37,592,982...37,600,004
Ensembl chr 3:37,591,815...37,602,112 		JBrowse link
G S Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome OMIM
ClinVar		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chrNW_004936530:4,756,069...4,761,484
Ensembl chrNW_004936530:4,753,751...4,761,695 		JBrowse link
G D ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome OMIM
ClinVar		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr 6:36,618,670...36,624,533
Ensembl chr 6:36,491,561...36,624,532 		JBrowse link
G B ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome OMIM
ClinVar		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr16:3,721,063...3,727,056
Ensembl chr16:4,887,051...4,892,607 		JBrowse link
G C Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome OMIM
ClinVar		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chrNW_004955442:12,694,197...12,700,181
Ensembl chrNW_004955442:12,694,197...12,700,181 		JBrowse link
G R Rogdi rogdi atypical leucine zipper ISO
ISS		 ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome
OMIM:226750
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr10:11,074,288...11,078,907
Ensembl chr10:10,567,834...10,572,452 		JBrowse link
G M Rogdi rogdi homolog ISO
IAGP		 ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome
OMIM:226750
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr16:4,826,593...4,831,438
Ensembl chr16:4,826,594...4,831,417 		JBrowse link
G H ROGDI rogdi atypical leucine zipper IAGP
ISS
EXP		 ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Kohlschutter's syndrome
OMIM:226750
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880 		JBrowse link
G P SEPT12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,604,669...37,617,336
Ensembl chr 3:37,606,716...37,627,196 		JBrowse link
G N Septin12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,633,025...2,645,557
Ensembl chrNW_004624824:2,633,154...2,644,880 		JBrowse link
G G SEPTIN12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,448,098...4,465,389 JBrowse link
G S Septin12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,744,772...4,750,495
Ensembl chrNW_004936530:4,744,818...4,750,521 		JBrowse link
G D SEPTIN12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,630,038...36,641,920
Ensembl chr 6:36,630,117...36,641,924 		JBrowse link
G B SEPTIN12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,701,796...3,713,170
Ensembl chr16:4,867,217...4,877,772 		JBrowse link
G C Septin12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,704,546...12,717,905
Ensembl chrNW_004955442:12,705,034...12,719,140 		JBrowse link
G R Septin12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,087,354...11,097,036
Ensembl chr10:10,581,008...10,590,581 		JBrowse link
G M Septin12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,804,722...4,815,716
Ensembl chr16:4,804,722...4,815,716 		JBrowse link
G H SEPTIN12 septin 12 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,777,606...4,791,828
Ensembl chr16:4,777,606...4,788,398 		JBrowse link
G N Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,645,488...2,649,428
Ensembl chrNW_004624824:2,648,641...2,649,427 		JBrowse link
G G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,465,215...4,466,550
Ensembl chr 5:4,465,603...4,466,738 		JBrowse link
G P SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,599,574...37,601,316
Ensembl chr 3:37,599,576...37,601,086 		JBrowse link
G S Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,754,946...4,755,830
Ensembl chrNW_004936530:4,755,222...4,755,817 		JBrowse link
G D SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,624,080...36,625,631
Ensembl chr 6:36,624,992...36,625,505 		JBrowse link
G B SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,719,356...3,720,380
Ensembl chr16:4,884,977...4,885,869 		JBrowse link
G C Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,700,461...12,701,283
Ensembl chrNW_004955442:12,700,461...12,701,283 		JBrowse link
G R Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,079,019...11,080,804 JBrowse link
G M Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,825,152...4,826,173
Ensembl chr16:4,825,152...4,826,173 		JBrowse link
G H SMIM22 small integral membrane protein 22 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,788,397...4,796,491
Ensembl chr16:4,788,397...4,796,491 		JBrowse link
G N Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,979,539...2,041,085
Ensembl chrNW_004624824:1,981,609...2,021,159 		JBrowse link
G G SRL sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:3,861,921...3,928,865 JBrowse link
G P SRL sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:38,073,379...38,111,936
Ensembl chr 3:38,073,562...38,111,932 		JBrowse link
G S Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:224,023...275,069 JBrowse link
G D SRL sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,113,398...37,163,133
Ensembl chr 6:37,124,499...37,160,955 		JBrowse link
G B SRL sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,107,619...3,161,180 JBrowse link
G C Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,200,237...13,242,816
Ensembl chrNW_004955442:13,200,440...13,238,227 		JBrowse link
G R Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,540,365...11,584,506
Ensembl chr10:11,034,035...11,078,101 		JBrowse link
G M Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,294,843...4,359,772
Ensembl chr16:4,298,080...4,359,680 		JBrowse link
G H SRL sarcalumenin IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,189,374...4,242,080
Ensembl chr16:4,189,374...4,242,080 		JBrowse link
G N Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,044,322...2,105,571
Ensembl chrNW_004624824:2,044,235...2,058,662 		JBrowse link
G G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:3,931,288...3,960,039
Ensembl chr 5:3,932,149...3,954,486 		JBrowse link
G P TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:38,043,735...38,060,820
Ensembl chr 3:38,050,308...38,060,817 		JBrowse link
G S Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:210,863...222,531
Ensembl chrNW_004936694:210,672...222,619 		JBrowse link
G D TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,075,462...37,111,039
Ensembl chr 6:37,097,786...37,111,072 		JBrowse link
G B TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,176,129...3,226,404
Ensembl chr16:4,348,929...4,368,525 		JBrowse link
G C Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,160,467...13,174,288
Ensembl chrNW_004955442:13,160,450...13,175,057 		JBrowse link
G R Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,507,242...11,525,794
Ensembl chr10:11,002,911...11,019,386 		JBrowse link
G M Tfap4 transcription factor AP4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,362,525...4,378,625
Ensembl chr16:4,362,525...4,377,718 		JBrowse link
G H TFAP4 transcription factor AP-4 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,257,186...4,273,023
Ensembl chr16:4,257,186...4,273,075 		JBrowse link
G N Ubald1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,409,845...2,415,211 JBrowse link
G G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,295,504...4,301,647
Ensembl chr 5:4,292,771...4,301,515 		JBrowse link
G P UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,753,262...37,758,872
Ensembl chr 3:37,753,280...37,758,870 		JBrowse link
G S Ubald1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,641,859...4,647,264
Ensembl chrNW_004936530:4,638,114...4,647,921 		JBrowse link
G D UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,783,875...36,794,526
Ensembl chr 6:36,786,762...36,787,452 		JBrowse link
G B UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,534,422...3,540,533 JBrowse link
G C Ubald1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,828,567...12,834,355
Ensembl chrNW_004955442:12,828,567...12,834,355 		JBrowse link
G R Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,202,197...11,206,962
Ensembl chr10:10,695,717...10,700,518 		JBrowse link
G M Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,692,641...4,698,190
Ensembl chr16:4,692,642...4,698,179 		JBrowse link
G H UBALD1 UBA like domain containing 1 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,608,884...4,614,888
Ensembl chr16:4,608,883...4,615,027 		JBrowse link
G N Vasn vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,154,646...2,164,796
Ensembl chrNW_004624824:2,155,589...2,164,796 		JBrowse link
G G VASN vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,052,239...4,063,884 JBrowse link
G P VASN vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,961,425...37,972,477
Ensembl chr 3:37,961,432...37,972,114 		JBrowse link
G S Vasn vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:128,398...138,954
Ensembl chrNW_004936694:128,273...138,954 		JBrowse link
G D VASN vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,014,704...37,025,734
Ensembl chr 6:37,015,333...37,017,351 		JBrowse link
G B VASN vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,298,836...3,310,548
Ensembl chr16:4,475,506...4,477,527 		JBrowse link
G C Vasn vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,060,923...13,071,303
Ensembl chrNW_004955442:13,060,923...13,071,303 		JBrowse link
G R Vasn vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,424,174...11,434,681
Ensembl chr10:10,917,605...10,928,357 		JBrowse link
G M Vasn vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,457,809...4,469,030
Ensembl chr16:4,457,805...4,468,666 		JBrowse link
G H VASN vasorin IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,371,848...4,383,538
Ensembl chr16:4,371,848...4,383,538 		JBrowse link
G G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 5:4,432,050...4,443,777
Ensembl chr 5:4,432,575...4,443,396 		JBrowse link
G P ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 3:37,642,424...37,652,378 JBrowse link
G D ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,646,310...36,663,266
Ensembl chr 6:36,654,503...36,663,280 		JBrowse link
G B ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,673,146...3,692,219
Ensembl chr16:4,839,112...4,857,595 		JBrowse link
G H ZNF500 zinc finger protein 500 IAGP ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,744,245...4,767,162
Ensembl chr16:4,748,239...4,767,624 		JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Slc10a7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chrNW_004624853:5,110,729...5,365,312
Ensembl chrNW_004624853:5,113,153...5,365,339 		JBrowse link
G G SLC10A7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chr 7:92,798,344...93,052,737 JBrowse link
G P SLC10A7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chr 8:82,115,057...82,355,660
Ensembl chr 8:82,115,056...82,355,655 		JBrowse link
G S Slc10a7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chrNW_004936535:2,792,576...3,038,504
Ensembl chrNW_004936535:2,792,293...3,038,512 		JBrowse link
G D SLC10A7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chr15:44,718,085...44,957,787
Ensembl chr15:44,720,629...44,957,495 		JBrowse link
G B SLC10A7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chr 4:138,592,266...138,857,833
Ensembl chr 4:150,251,966...150,510,812 		JBrowse link
G C Slc10a7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chrNW_004955428:1,999,341...2,250,201
Ensembl chrNW_004955428:1,999,280...2,250,234 		JBrowse link
G R Slc10a7 solute carrier family 10, member 7 ISO ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chr19:46,087,440...46,311,753
Ensembl chr19:29,183,155...29,407,464 		JBrowse link
G M Slc10a7 solute carrier family 10 (sodium/bile acid cotransporter family), member 7 ISO ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chr 8:79,235,957...79,460,641
Ensembl chr 8:79,235,975...79,460,632 		JBrowse link
G H SLC10A7 solute carrier family 10 member 7 IAGP ClinVar Annotator: match by term: SLC10A7-related condition
ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chrNW_004624735:13,035,896...13,048,658
Ensembl chrNW_004624735:13,042,060...13,048,658 		JBrowse link
G G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394 		JBrowse link
G P FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517 		JBrowse link
G S Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chrNW_004936470:8,413,055...8,418,360
Ensembl chrNW_004936470:8,406,912...8,418,895 		JBrowse link
G D FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834 		JBrowse link
G B FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr 8:140,476,051...140,492,613
Ensembl chr 8:143,491,945...143,496,919 		JBrowse link
G C Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chrNW_004955454:2,421,393...2,436,012
Ensembl chrNW_004955454:2,422,237...2,427,194 		JBrowse link
G R Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr 7:109,597,129...109,605,317
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G M Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		JBrowse link
G H FAM83H family with sequence similarity 83 member H IAGP ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Stomatognathic Diseases 16078
      tooth disease 5361
        teeth hard tissue disease 1484
          dental enamel hypoplasia 1097
            amelogenesis imperfecta 586
              Amelogenesis Imperfecta Hypomaturation Type + 60
              Cone Rod Dystrophy Amelogenesis Imperfecta 10
              Heimler syndrome 1 40
              Jalili syndrome 10
              Kohlschutter-Tonz syndrome 213
              Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 10
              X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 + 20
              amelogenesis imperfecta type 1A 21
              amelogenesis imperfecta type 1B 30
              amelogenesis imperfecta type 1C 30
              amelogenesis imperfecta type 1E 23
              amelogenesis imperfecta type 1F 10
              amelogenesis imperfecta type 1G 20
              amelogenesis imperfecta type 1H 10
              amelogenesis imperfecta type 1J 11
              amelogenesis imperfecta type 1K 10
              amelogenesis imperfecta type 3 + 30
              amelogenesis imperfecta type 4 10
              brachyolmia-amelogenesis imperfecta syndrome 26
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            mouth disease 12160
              tooth disease 5361
                Tooth Abnormalities 3287
                  dental enamel hypoplasia 1097
                    amelogenesis imperfecta 586
                      Amelogenesis Imperfecta Hypomaturation Type + 60
                      Cone Rod Dystrophy Amelogenesis Imperfecta 10
                      Heimler syndrome 1 40
                      Jalili syndrome 10
                      Kohlschutter-Tonz syndrome 213
                      Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 10
                      X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 + 20
                      amelogenesis imperfecta type 1A 21
                      amelogenesis imperfecta type 1B 30
                      amelogenesis imperfecta type 1C 30
                      amelogenesis imperfecta type 1E 23
                      amelogenesis imperfecta type 1F 10
                      amelogenesis imperfecta type 1G 20
                      amelogenesis imperfecta type 1H 10
                      amelogenesis imperfecta type 1J 11
                      amelogenesis imperfecta type 1K 10
                      amelogenesis imperfecta type 3 + 30
                      amelogenesis imperfecta type 4 10
                      brachyolmia-amelogenesis imperfecta syndrome 26
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