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.
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Acp4
acid phosphatase 4
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
PMID:27843125
NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
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Amelx
amelogenin, X-linked
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar RGD
PMID:8406474
RGD:1300370
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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Arhgap6
Rho GTPase activating protein 6
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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Bnc2
basonuclin 2
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426
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Chchd2l3
coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 3
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
NCBI chr 9:94,500,439...94,501,110 NCBI chr 9:94,500,629...94,501,122
Ensembl chr 9:94,500,432...94,501,128
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Congenital enamel hypoplasia
ClinVar
PMID:25741868
NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Enam
enamelin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amelogenesis imperfecta
CTD ClinVar
PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532
NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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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 chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Fam83h
family with sequence similarity 83, member H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18484629 PMID:19407157
NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Gpr68
G protein-coupled receptor 68
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
PMID:27693231
NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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Ltbp3
latent transforming growth factor beta binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25669657
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Psph
phosphoserine phosphatase
ISO
ClinVar Annotator: match by term: Congenital enamel hypoplasia
ClinVar
PMID:28492532
NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
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Sp6
Sp6 transcription factor
IMP
RGD
PMID:22676574
RGD:10047189
NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013
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Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
PMID:24033266
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Mmp20
matrix metallopeptidase 20
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2
OMIM ClinVar
PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 PMID:22243262 PMID:23355523 PMID:23625376 PMID:25741868 PMID:26502894 PMID:28473773 PMID:28492532 PMID:28659819 More...
NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3
OMIM ClinVar
PMID:19853237 PMID:20938048 PMID:25741868 PMID:30028003
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Odaph
odontogenesis associated phosphoprotein
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4
OMIM ClinVar
PMID:22901946
NCBI chr14:16,071,835...16,084,210
Ensembl chr14:16,073,058...16,080,129
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Slc24a4
solute carrier family 24 member 4
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5
OMIM ClinVar
PMID:23375655 PMID:24621671
NCBI chr 6:121,278,746...121,419,811
Ensembl chr 6:121,280,031...121,414,949
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Lamb3
laminin subunit beta 3
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A
OMIM ClinVar
PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9205497 PMID:9242513 PMID:9767254 PMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:15311214 PMID:15538630 PMID:15663509 PMID:16439963 PMID:16473856 PMID:16674655 PMID:17476356 PMID:21801158 PMID:23632796 PMID:23958762 PMID:25708563 PMID:25741868 PMID:27062385 PMID:27375110 PMID:28492532 PMID:28830826 PMID:30544381 More...
NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant
ClinVar
PMID:28492532
NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Enam
enamelin
ISO
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
ClinVar OMIM RGD
PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:22414746 PMID:25741868 PMID:28334996 PMID:28492532 PMID:31478359 PMID:11487571 More...
RGD:1598908
NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Enam
enamelin
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C
OMIM ClinVar
PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:28492532 More...
NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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Mmp20
matrix metallopeptidase 20
ISO
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive
ClinVar
NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive
ClinVar
PMID:25741868
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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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 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 More...
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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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 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 More...
NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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Ambn
ameloblastin
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F
OMIM ClinVar
PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532
NCBI chr14:19,601,761...19,614,382
Ensembl chr14:19,601,702...19,614,393
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Fam20a
FAM20A, golgi associated secretory pathway pseudokinase
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
OMIM ClinVar
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 More...
NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G
ClinVar
PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 More...
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Itgb6
integrin subunit beta 6
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H
OMIM ClinVar
PMID:24305999 PMID:24319098 PMID:25741868
NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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Acp4
acid phosphatase 4
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J
OMIM ClinVar
PMID:27843125 PMID:28513613
NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
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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:28611678
NCBI chr 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424
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Gpr68
G protein-coupled receptor 68
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6
ClinVar OMIM
PMID:27693231
NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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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 PMID:25741868 PMID:28492532 PMID:33034243 More...
NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Amtn
amelotin
ISO
OMIM
NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181
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Relt
RELT, TNF receptor
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c
OMIM 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
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Ltbp3
latent transforming growth factor beta binding protein 3
ISO
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome
OMIM ClinVar
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 PMID:19344874 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025 PMID:30887145 More...
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Lrp1
LDL receptor related protein 1
ISO
ClinVar Annotator: match by term: Keratosis pilaris
ClinVar
PMID:25741868 PMID:26142438 PMID:28381441
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Il1b
interleukin 1 beta
ISO
DNA:SNP: :rs1143627C>T (human)
RGD
PMID:30803280
RGD:14975276
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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RT1-Bb
RT1 class II, locus Bb
ISO
RGD
PMID:29594988
RGD:14928324
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Cftr
CF transmembrane conductance regulator
IMP
RGD
PMID:31942562
RGD:126928119
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Cftrem1Ang
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang
IMP
RGD
PMID:31942562
RGD:126928119
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Cftrem2Ang
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang
IMP
RGD
PMID:31942562
RGD:126928119
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Dspp
dentin sialophosphoprotein
ISO ISS
mRNA:decreased expression:incisor, molar (mouse) ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN OMIM:125400 | OMIM:125420
ClinVar MouseDO RGD
PMID:25741868 PMID:28492532 PMID:11116156
RGD:734904
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Smoc2
SPARC related modular calcium binding 2
ISS
OMIM:125400 | OMIM:125420
MouseDO
NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
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Ssuh2
ssu-2 homolog
ISS
OMIM:125400 | OMIM:125420
MouseDO
NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
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Smoc2
SPARC related modular calcium binding 2
ISO
ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth
OMIM ClinVar
PMID:22152679 PMID:23317772 PMID:25741868
NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
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Dspp
dentin sialophosphoprotein
ISO
ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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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:12402331 PMID:16086329 PMID:16088892 PMID:16141001 PMID:19105186 PMID:21031596 PMID:25525159 PMID:25741868 PMID:26387595 PMID:26467025 PMID:27302843 PMID:28492532 PMID:30733538 PMID:31374812 PMID:31831025 More...
NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107
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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:9398847 PMID:9398848 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:19105186 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27302843 PMID:27872819 PMID:27882258 PMID:28454995 PMID:28468868 PMID:28492532 PMID:30362618 PMID:30733538 PMID:31374812 PMID:31831025 More...
NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar
PMID:28492532
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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Pex6
peroxisomal biogenesis factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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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 PMID:19200527 PMID:25741868 PMID:28492532 PMID:30718709 More...
NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
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Adcy9
adenylate cyclase 9
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
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Anks3
ankyrin repeat and sterile alpha motif domain containing 3
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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Cdip1
cell death-inducing p53 target 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980
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Coro7
coronin 7
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dnaaf8
dynein axonemal assembly factor 8
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891
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Dnaja3
DnaJ heat shock protein family (Hsp40) member A3
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161
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Glis2
GLIS family zinc finger 2
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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Hmox2
heme oxygenase 2
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
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LOC100361104
CG10869-like
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,707,529...10,750,893
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Mgrn1
mahogunin ring finger 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
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Nmral1
NmrA like redox sensor 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192
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Nudt16l1
nudix hydrolase 16 like 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370
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Pam16
presequence translocase associated motor 16
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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Rogdi
rogdi atypical leucine zipper
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
OMIM ClinVar
PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 PMID:16411202 PMID:17576681 PMID:22424600 PMID:22482807 PMID:23086778 PMID:24630287 PMID:25565929 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452
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Septin12
septin 12
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
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Smim22
small integral membrane protein 22
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,572,146...10,574,339
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Srl
sarcalumenin
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
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Tfap4
transcription factor AP-4
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
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Ubald1
UBA-like domain containing 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518
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Vasn
vasorin
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
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Gja1
gap junction protein, alpha 1
ISO
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
OMIM ClinVar
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14974090 PMID:14981729 PMID:15192806 PMID:15879313 PMID:16531323 PMID:16816024 PMID:17901047 PMID:18003637 PMID:18079109 PMID:18412120 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19615768 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:22699666 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:23951358 PMID:25388818 PMID:25398053 PMID:25741868 PMID:27226478 PMID:28492532 PMID:30653986 More...
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Tbc1d32
TBC1 domain family, member 32
ISO
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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Alb
albumin
susceptibility
ISO
RGD
PMID:17959907
RGD:11035291
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Tnf
tumor necrosis factor
IEP
RGD
PMID:22372265
RGD:13825431
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
IEP
RGD
PMID:22372265
RGD:13825431
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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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 chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:26833990 PMID:28166811 PMID:28319323 PMID:28492532 PMID:28606988 PMID:28716935 PMID:29018476 PMID:29270977 PMID:30219631 PMID:30564185 PMID:30707351 PMID:31898846 PMID:34185153 More...
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Ddx58
DEXD/H-box helicase 58
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 2
OMIM ClinVar
PMID:25620203 PMID:25741868 PMID:28166811 PMID:28492532
NCBI chr 5:55,321,229...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
OMIM ClinVar
PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 PMID:21520071 PMID:25741868 PMID:27924851 PMID:28492532 More...
NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Fam83h
family with sequence similarity 83, member H
ISO
ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
ClinVar
NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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