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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;   OMIM:PS104500;   ORDO:88661
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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 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 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 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 Bnc2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936771:747,487...1,036,546
Ensembl chrNW_004936771:747,496...1,036,122 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 OMIM
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chrNW_004936551:5,310,426...5,352,883
Ensembl chrNW_004936551:5,310,426...5,352,883 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3 OMIM
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 OMIM
ClinVar		 PMID:22901946 PMID:25741868 NCBI chrNW_004936598:400,214...407,597 JBrowse link
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chrNW_004936733:515,546...639,699
Ensembl chrNW_004936733:515,510...639,705 		JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta 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 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
amelogenesis imperfecta type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:28492532 NCBI chrNW_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131 		JBrowse link
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B OMIM
ClinVar		 PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 More... NCBI chrNW_004936598:4,118,031...4,132,342
Ensembl chrNW_004936598:4,118,579...4,132,692 		JBrowse link
amelogenesis imperfecta type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chrNW_004936598:4,118,031...4,132,342
Ensembl chrNW_004936598:4,118,579...4,132,692 		JBrowse link
G 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 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
amelogenesis imperfecta type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin X-linked ISO 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 Arhgap6 Rho GTPase activating protein 6 ISO 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
amelogenesis imperfecta type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambn ameloblastin ISO 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
amelogenesis imperfecta type 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chrNW_004936541:7,867,856...7,916,145
Ensembl chrNW_004936541:7,867,303...7,916,154 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709 		JBrowse link
amelogenesis imperfecta type 1H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H 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
amelogenesis imperfecta type 1J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28513613 NCBI chrNW_004936889:510,667...515,831
Ensembl chrNW_004936889:510,667...515,075 		JBrowse link
Amelogenesis Imperfecta Type 1K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk4 kallikrein related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 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
amelogenesis imperfecta type 2A6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chrNW_004936488:18,257,765...18,278,530
Ensembl chrNW_004936488:18,259,866...18,260,993 		JBrowse link
amelogenesis imperfecta type 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA 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
amelogenesis imperfecta type 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amtn amelotin ISO OMIM NCBI chrNW_004936598:4,204,094...4,210,492
Ensembl chrNW_004936598:4,203,255...4,215,567 		JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relt RELT TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c 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
amelogenesis imperfecta type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV OMIM
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
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471 		JBrowse link
G 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
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chrNW_004936646:1,326,900...1,407,236
Ensembl chrNW_004936646:1,327,374...1,406,456 		JBrowse link
Cone Rod Dystrophy Amelogenesis Imperfecta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 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
Heimler syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004936803:1,348,238...1,361,566 JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G 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 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
Jalili syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO 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
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:336,269...449,490
Ensembl chrNW_004936694:336,269...452,943 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,698,234...4,723,131
Ensembl chrNW_004936530:4,695,401...4,722,924 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:224,023...275,069 JBrowse link
G 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 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 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
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 Slc10a7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:29878199 PMID:30082715 NCBI chrNW_004936535:2,792,576...3,038,504
Ensembl chrNW_004936535:2,792,293...3,038,512 		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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Stomatognathic Diseases 1245
      tooth disease 408
        teeth hard tissue disease 111
          dental enamel hypoplasia 104
            amelogenesis imperfecta 56
              Amelogenesis Imperfecta Hypomaturation Type + 6
              Amelogenesis Imperfecta Type 1K 1
              Cone Rod Dystrophy Amelogenesis Imperfecta 1
              Heimler syndrome 1 4
              Jalili syndrome 1
              Kohlschutter-Tonz syndrome 20
              Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
              X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 + 2
              amelogenesis imperfecta type 1A 2
              amelogenesis imperfecta type 1B 2
              amelogenesis imperfecta type 1C 3
              amelogenesis imperfecta type 1E 2
              amelogenesis imperfecta type 1F 1
              amelogenesis imperfecta type 1G 2
              amelogenesis imperfecta type 1H 1
              amelogenesis imperfecta type 1J 1
              amelogenesis imperfecta type 3 + 3
              amelogenesis imperfecta type 4 1
              brachyolmia-amelogenesis imperfecta syndrome 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        Neurologic Manifestations 9046
          sensory system disease 6279
            mouth disease 930
              tooth disease 408
                Tooth Abnormalities 269
                  dental enamel hypoplasia 104
                    amelogenesis imperfecta 56
                      Amelogenesis Imperfecta Hypomaturation Type + 6
                      Amelogenesis Imperfecta Type 1K 1
                      Cone Rod Dystrophy Amelogenesis Imperfecta 1
                      Heimler syndrome 1 4
                      Jalili syndrome 1
                      Kohlschutter-Tonz syndrome 20
                      Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
                      X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 + 2
                      amelogenesis imperfecta type 1A 2
                      amelogenesis imperfecta type 1B 2
                      amelogenesis imperfecta type 1C 3
                      amelogenesis imperfecta type 1E 2
                      amelogenesis imperfecta type 1F 1
                      amelogenesis imperfecta type 1G 2
                      amelogenesis imperfecta type 1H 1
                      amelogenesis imperfecta type 1J 1
                      amelogenesis imperfecta type 3 + 3
                      amelogenesis imperfecta type 4 1
                      brachyolmia-amelogenesis imperfecta syndrome 2
paths to the root